Basic helix-loop-helix (bHLH) domain-containing proteins that contain intrinsic HISTONE ACETYLTRANSFERASE activity and play important roles in CIRCADIAN RHYTHM regulation. Clock proteins combine with Arntl proteins to form heterodimeric transcription factors that are specific for E-BOX ELEMENTS and stimulate the transcription of several E-box genes that are involved in cyclical regulation. This transcriptional activation also sets into motion a time-dependent feedback loop which in turn down-regulates the expression of clock proteins.
Biological mechanism that controls CIRCADIAN RHYTHM. Circadian clocks exist in the simplest form in cyanobacteria and as more complex systems in fungi, plants, and animals. In humans the system includes photoresponsive RETINAL GANGLION CELLS and the SUPRACHIASMATIC NUCLEUS that acts as the central oscillator.
In humans, one of the paired regions in the anterior portion of the THORAX. The breasts consist of the MAMMARY GLANDS, the SKIN, the MUSCLES, the ADIPOSE TISSUE, and the CONNECTIVE TISSUES.
The physiological mechanisms that govern the rhythmic occurrence of certain biochemical, physiological, and behavioral phenomena.
The regular recurrence, in cycles of about 24 hours, of biological processes or activities, such as sensitivity to drugs and stimuli, hormone secretion, sleeping, and feeding.
Circadian rhythm signaling proteins that influence circadian clock by interacting with other circadian regulatory proteins and transporting them into the CELL NUCLEUS.
Basic helix-loop-helix (bHLH) domain-containing proteins that play important roles in CIRCADIAN RHYTHM regulation. They combine with CLOCK PROTEINS to form heterodimeric transcription factors that are specific for E-BOX ELEMENTS and stimulate the transcription of several E-box genes that are involved in cyclical regulation.
Ion channels that specifically allow the passage of SODIUM ions. A variety of specific sodium channel subtypes are involved in serving specialized functions such as neuronal signaling, CARDIAC MUSCLE contraction, and KIDNEY function.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Monosaccharide transport proteins that function as active symporters. They utilize SODIUM or HYDROGEN IONS to transport GLUCOSE across CELL MEMBRANES.
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Integral membrane protein of Golgi and endoplasmic reticulum. Its homodimer is an essential component of the gamma-secretase complex that catalyzes the cleavage of membrane proteins such as NOTCH RECEPTORS and AMYLOID BETA-PEPTIDES precursors. PSEN1 mutations cause early-onset ALZHEIMER DISEASE type 3 that may occur as early as 30 years of age in humans.
A voltage-gated sodium channel subtype that mediates the sodium ion PERMEABILITY of CARDIOMYOCYTES. Defects in the SCN5A gene, which codes for the alpha subunit of this sodium channel, are associated with a variety of CARDIAC DISEASES that result from loss of sodium channel function.
The mechanisms by which the SEX of an individual's GONADS are fixed.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
Genetic mechanisms that allow GENES to be expressed at a similar level irrespective of their GENE DOSAGE. This term is usually used in discussing genes that lie on the SEX CHROMOSOMES. Because the sex chromosomes are only partially homologous, there is a different copy number, i.e., dosage, of these genes in males vs. females. In DROSOPHILA, dosage compensation is accomplished by hypertranscription of genes located on the X CHROMOSOME. In mammals, dosage compensation of X chromosome genes is accomplished by random X CHROMOSOME INACTIVATION of one of the two X chromosomes in the female.
Validation of the SEX of an individual by inspection of the GONADS and/or by genetic tests.
Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.
A bibliographic database that includes MEDLINE as its primary subset. It is produced by the National Center for Biotechnology Information (NCBI), part of the NATIONAL LIBRARY OF MEDICINE. PubMed, which is searchable through NLM's Web site, also includes access to additional citations to selected life sciences journals not in MEDLINE, and links to other resources such as the full-text of articles at participating publishers' Web sites, NCBI's molecular biology databases, and PubMed Central.
A publication issued at stated, more or less regular, intervals.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
Enzymes that catalyze the transfer of multiple ADP-RIBOSE groups from nicotinamide-adenine dinucleotide (NAD) onto protein targets, thus building up a linear or branched homopolymer of repeating ADP-ribose units i.e., POLY ADENOSINE DIPHOSPHATE RIBOSE.
The fraudulent misrepresentation of the diagnosis and treatment of disease.
Facilities or services which are especially devoted to providing palliative and supportive care to the patient with a terminal illness and to the patient's family.
Small double-stranded, non-protein coding RNAs (21-31 nucleotides) involved in GENE SILENCING functions, especially RNA INTERFERENCE (RNAi). Endogenously, siRNAs are generated from dsRNAs (RNA, DOUBLE-STRANDED) by the same ribonuclease, Dicer, that generates miRNAs (MICRORNAS). The perfect match of the siRNAs' antisense strand to their target RNAs mediates RNAi by siRNA-guided RNA cleavage. siRNAs fall into different classes including trans-acting siRNA (tasiRNA), repeat-associated RNA (rasiRNA), small-scan RNA (scnRNA), and Piwi protein-interacting RNA (piRNA) and have different specific gene silencing functions.
Criminal acts committed during, or in connection with, war, e.g., maltreatment of prisoners, willful killing of civilians, etc.
A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.
A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)
An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).
Small proteinaceous infectious particles which resist inactivation by procedures that modify NUCLEIC ACIDS and contain an abnormal isoform of a cellular protein which is a major and necessary component. The abnormal (scrapie) isoform is PrPSc (PRPSC PROTEINS) and the cellular isoform PrPC (PRPC PROTEINS). The primary amino acid sequence of the two isoforms is identical. Human diseases caused by prions include CREUTZFELDT-JAKOB SYNDROME; GERSTMANN-STRAUSSLER SYNDROME; and INSOMNIA, FATAL FAMILIAL.
Special hospitals which provide care for ill children.
Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions.
The type species of the genus INFLUENZAVIRUS A that causes influenza and other diseases in humans and animals. Antigenic variation occurs frequently between strains, allowing classification into subtypes and variants. Transmission is usually by aerosol (human and most non-aquatic hosts) or waterborne (ducks). Infected birds shed the virus in their saliva, nasal secretions, and feces.
Virus diseases caused by the ORTHOMYXOVIRIDAE.
An acute viral infection in humans involving the respiratory tract. It is marked by inflammation of the NASAL MUCOSA; the PHARYNX; and conjunctiva, and by headache and severe, often generalized, myalgia.
A subtype of INFLUENZA A VIRUS with the surface proteins hemagglutinin 1 and neuraminidase 1. The H1N1 subtype was responsible for the Spanish flu pandemic of 1918.
Vaccines used to prevent infection by viruses in the family ORTHOMYXOVIRIDAE. It includes both killed and attenuated vaccines. The composition of the vaccines is changed each year in response to antigenic shifts and changes in prevalence of influenza virus strains. The vaccine is usually bivalent or trivalent, containing one or two INFLUENZAVIRUS A strains and one INFLUENZAVIRUS B strain.
Membrane glycoproteins from influenza viruses which are involved in hemagglutination, virus attachment, and envelope fusion. Fourteen distinct subtypes of HA glycoproteins and nine of NA glycoproteins have been identified from INFLUENZA A VIRUS; no subtypes have been identified for Influenza B or Influenza C viruses.
A subtype of INFLUENZA A VIRUS comprised of the surface proteins hemagglutinin 5 and neuraminidase 1. The H5N1 subtype, frequently referred to as the bird flu virus, is endemic in wild birds and very contagious among both domestic (POULTRY) and wild birds. It does not usually infect humans, but some cases have been reported.
Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain.
A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures.
Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas (ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas (OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle. (From Escourolle et al., Manual of Basic Neuropathology, 2nd ed, p21)
Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.
Exclusive legal rights or privileges applied to inventions, plants, etc.
DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.
The legal authority or formal permission from authorities to carry on certain activities which by law or regulation require such permission. It may be applied to licensure of institutions as well as individuals.
Organic compounds containing a carbonyl group in the form -CHO.
A family of non-enveloped viruses infecting mammals (MASTADENOVIRUS) and birds (AVIADENOVIRUS) or both (ATADENOVIRUS). Infections may be asymptomatic or result in a variety of diseases.
The granting of a license to practice medicine.

Assaying potential carcinogens with Drosophila. (1/2288)

Drosophila offers many advantages for the detection of mutagenic activity of carcinogenic agents. It provides the quickest assay system for detecting mutations in animals today. Its generation time is short, and Drosophila is cheap and easy to breed in large numbers. The simple genetic testing methods give unequivocal answers about the whole spectrum of relevant genetic damage. A comparison of the detection capacity of assays sampling different kinds of genetic damage revealed that various substances are highly effective in inducing mutations but do not produce chromosome breakage effects at all, or only at much higher concentrations than those required for mutation induction. Of the different assay systems available, the classical sex-linked recessive lethal test deserves priority, in view of its superior capacity to detect mutagens. Of practical importance is also its high sensitivity, because a large number of loci in one fifth of the genome is tested for newly induced forward mutations, including small deletions. The recent findings that Drosophila is capable of carrying out the same metabolic activation reactions as the mammalian liver makes the organism eminently suitable for verifying results obtained in prescreening with fast microbial assay systems. An additional advantage in this respect is the capacity of Drosophila for detecting short-lived activation products, because intracellular metabolic activation appears to occur within the spermatids and spermatocytes.  (+info)

Early embryonic death of mice deficient in gamma-adaptin. (2/2288)

Intracellular protein transport and sorting by vesicles in the secretory and endocytic pathways requires the formation of a protein coat on the membrane. The heterotetrameric adaptor protein complex 1 (AP-1) promotes the formation of clathrin-coated vesicles at the trans-Golgi network. AP-1 interacts with various sorting signals in the cytoplasmic tails of cargo molecules, thus indicating a function in protein sorting. We generated mutants of the gamma-adaptin subunit of AP-1 in mice to investigate its role in post-Golgi vesicle transport and sorting processes. gamma-Adaptin-deficient embryos develop until day 3.5 post coitus and die during the prenidation period, revealing that AP-1 is essential for viability. In heterozygous mice the amount of AP-1 complexes is reduced to half of controls. Free beta1- or micro1 chains were not detectable, indicating that they are unstable unless they are part of AP-1 complexes. Heterozygous mice weigh less then their wild-type littermates and show impaired T cell development.  (+info)

Rac1 is required for the formation of three germ layers during gastrulation. (3/2288)

The Rac1, a member of the Rho family proteins, regulates actin organization of cytoskeleton and cell adhesion. We used genetic analysis to elucidate the role of Rac1 in mouse embryonic development. The rac1 deficient embryos showed numerous cell deaths in the space between the embryonic ectoderm and endoderm at the primitive streak stage. Investigation of the primary epiblast culture isolated from rac1 deficient embryos indicated that Rac1 is involved in lamellipodia formation, cell adhesion and cell migration in vivo. These results suggest that Rac1-mediated cell adhesion is essential for the formation of three germ layers during gastrulation.  (+info)

Embryological study of a T/t locus mutation (tw73) affecting trophectoderm development. (4/2288)

Mouse embryos homozygous for the recessive lethal mutation tw73 show specific defects in trophectoderm shortly after implantation. The trophectoderm and ectoplacental cone fail to form the usual close association with the uterine decidua, and proliferation is markedly reduced. The embryo proper ceases to develop beyond the two-layered stage and degenerates and dies within 5 days of implantation.  (+info)

Anterior organization of the Caenorhabditis elegans embryo by the labial-like Hox gene ceh-13. (5/2288)

The Caenorhabditis elegans lin-39, mab-5 and egl-5 Hox genes specify cell fates along the anterior-posterior body axis of the nematode during postembryonic development, but little is known about Hox gene functions during embryogenesis. Here, we show that the C. elegans labial-like gene ceh-13 is expressed in cells of many different tissues and lineages and that the rostral boundary of its expression domain is anterior to those of the other Hox genes. By transposon-mediated mutagenesis, we isolated a zygotic recessive ceh-13 loss-of-function allele, sw1, that exhibits an embryonic sublethal phenotype. Lineage analyses and immunostainings revealed defects in the organization of the anterior lateral epidermis and anterior body wall muscle cells. The epidermal and mesodermal identity of these cells, however, is correctly specified. ceh-13(sw1) mutant embryos also show fusion and adhesion defects in ectodermal cells. This suggests that ceh-13 plays a role in the anterior organization of the C. elegans embryo and is involved in the regulation of cell affinities.  (+info)

The Drosophila beta FTZ-F1 orphan nuclear receptor provides competence for stage-specific responses to the steroid hormone ecdysone. (6/2288)

The acquisition of competence is a key mechanism for refining global signals to distinct spatial and temporal responses. The molecular basis of competence, however, remains poorly understood. Here, we show that the beta FTZ-F1 orphan nuclear receptor functions as a competence factor for stage-specific responses to the steroid hormone ecdysone during Drosophila metamorphosis. beta FTZ-F1 mutants pupariate normally in response to the late larval pulse of ecdysone but display defects in stage-specific responses to the subsequent ecdysone pulse in prepupae. The ecdysone-triggered genetic hierarchy that directs these developmental responses is severely attenuated in beta FTZ-F1 mutants, although ecdysone receptor expression is unaffected. This study define beta FTZ-F1 as an essential competence factor for stage-specific responses to a steroid signal and implicates interplay among nuclear receptors as a mechanism for achieving hormonal competence.  (+info)

The Drosophila gene stand still encodes a germline chromatin-associated protein that controls the transcription of the ovarian tumor gene. (7/2288)

The Drosophila gene stand still (stil) encodes a novel protein required for survival, sexual identity and differentiation of female germ cells. Using specific antibodies, we show that the Stil protein accumulates in the nucleus of all female germ cells throughout development, and is transiently expressed during early stages of male germline differentiation. Changes of Stil subnuclear localization during oogenesis suggest an association with chromatin. Several mutant alleles, which are point mutations in the Stil N-terminal domain, encode proteins that no longer co-localized with chromatin. We find that Stil binds to many sites on polytene chromosomes with strong preference for decondensed chromatin. This localization is very similar to that of RNA polymerase II. We show that Stil is required for high levels of transcription of the ovarian tumor gene in germ cells. Expression of ovarian tumor in somatic cells can be induced by ectopic expression of Stil. Finally, we find that transient ubiquitous somatic expression of Stil results in lethality of the fly at all stages of development.  (+info)

The frequency and allelism of lethal chromosomes in isolated desert populations of Drosophila pseudoobscura. (8/2288)

Second-chromosome lethals were extracted from four populations of Drosophila pseudoobscura in Southern California. Two of the populations were from desert oases and two from the classic habitat on Mt. San Jacinto, previously studied by Dobzhansky. Allelism tests were made on the lethals within and between all locations. The frequency of lethal second-chromosomes in each location was 0.18, and this was not different from the results of other workers for samples throughout the species range. Interpopulational allelism rates were about 0.005, and not different from earlier results of Dobzhansky. Intrapopulational rates in this study were, with one exception, the same as the interpopulational rates, and significantly lower than Dobzhansky found using the third chromosome. This may be due to lethals being linked with heterotic third-chromosome inversions. The allelism rate of the exceptional population (about 0.03 and equal to Dobzhansky's intrapopulational results) may be due to heterotic lethals, or a founder effect. Two lethals were found in three populations each, possibly due to migration among these populations, which are up to 334 km apart.  (+info)

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Identifying genetic variants that lead to discernible phenotypes is the core of Mendelian genetics. An approach that considers embryonic lethality as a bona fide Mendelian phenotype has the potential to reveal novel genetic causes, which will further our understanding of early human development at a molecular level. Consanguineous families in which embryonic lethality segregates as a recessive Mendelian phenotype offer a unique opportunity for high throughput novel gene discovery as has been established for other recessive postnatal phenotypes. We have studied 24 eligible families using autozygosity mapping and whole-exome sequencing. In addition to revealing mutations in genes previously linked to embryonic lethality in severe cases, our approach revealed seven novel candidate genes (THSD1, PIGC, UBN1, MYOM1, DNAH14, GALNT14, and FZD6). A founder mutation in one of these genes, THSD1, which has been linked to vascular permeability, accounted for embryonic lethality in three of the study families.
ccdB is a lethal gene that targets DNA gyrase. A strain of E. coli with a specific mutation in the gyrase (such as DB3.1, see E. coli genotypes) can be used to propagate ccdB. The lethal gene is useful for ensuring that the plasmid containing it cannot be propagated in standard E. coli strains (for cloning purposes). The ccdB positive-selection marker acts by killing the background of cells with no cloned DNA, only cells containing a recombinant DNA giving rise to viable clones (insertional inactivation of ccdB). ...
The present invention provides recombinant viral vectors carrying a vector construct which directs the expression of a gene product (e.g., HSVTK) that activates a compound with little or no cytotoxicity into a toxic product. Also provided are methods of destroying or inhibiting pathogenic agents in a warm blooded animal, comprising the step of administering to the animal a viral vector such as that described above, in order to inhibit or destroy the pathogenic agent.
Dominant lethal mutation assay was carried out on rats after being treated with graded doses of ethanol extract of the seeds of Mucuna urens. Male albino rats (Wistar strain) were caged in three groups labeled, groups II, III and IV and treated with three different dosages of the ethanol extract of the seeds of M. urens; 70, 140 and 210 mg/kg body weight (BW), respectively, for 14 days. The positive control animals (group I), were treated with distilled water for the entire period. At the end of the feeding period of two weeks, they were co-habited with virgin female albino rats at a ratio of 1:1 for 3 days. 14 days after mating, the females were sacrificed for the dominant lethal mutation assay. The results of the dominant lethal mutation assay showed that only female rats in group II had implants on the uterine horn, of all the treated groups. The rats in groups III and IV did not have any implants at all. Biological evaluations (pre-implantation losses) carried out showed 0, 76, 100 and 100%
Functionally interacting perturbations, such as synergistic drugs pairs or synthetic lethal gene pairs, are of key interest in both pharmacology and functional genomics. However, to find such pairs by traditional screening methods is both time consuming and costly. We present a novel computational-experimental framework for efficient identification of synergistic target pairs, applicable for screening of systems with sizes on the order of current drug, small RNA or SGA (Synthetic Genetic Array) libraries (|1000 targets). This framework exploits the fact that the response of a drug pair in a given system, or a pair of genes propensity to interact functionally, can be partly predicted by computational means from (i) a small set of experimentally determined target pairs, and (ii) pre-existing data (e.g. gene ontology, PPI) on the similarities between targets. Predictions are obtained by a novel matrix algebraic technique, based on cyclical projections onto convex sets. We demonstrate the efficiency of the
Abstract Background RNA interference coupled with videorecording of C. elegans embryos is a powerful method for identifying genes involved in cell division processes. Here we present a functional analysis of the gene B0511.9, previously identified as a candidate cell polarity gene in an RNAi videorecording screen of chromosome I embryonic lethal genes. Results Whereas weak RNAi inhibition of B0511.9 causes embryonic cell polarity defects, strong inhibition causes embryos to arrest in metaphase of meiosis I. The range of defects induced by RNAi of B0511.9 is strikingly similar to those displayed by mutants of anaphase-promoting complex/cyclosome (APC/C) components. Although similarity searches did not reveal any obvious homologue of B0511.9 in the non-redundant protein database, we found that the N-terminus shares a conserved sequence pattern with the N-terminus of the small budding yeast APC/C subunit Cdc26 and its orthologues from a variety of other organisms. Furthermore, we show that B0511.9 ...
Although this research uses mice, the findings are likely to be highly relevant to complications during human pregnancy and the study highlights the need for more work to be done on investigating development of the placenta during human pregnancies.. The placenta is vital for normal pregnancy progression and embryo development in most animals that give birth to live young, including humans. It provides a unique and highly specialised interface between the embryo and the mother, ensuring an adequate provision of nutrients and oxygen to the embryo. The placenta is also involved in waste disposal from the embryo and produces important hormones that help sustain pregnancy and promote fetal growth. Although previous research has highlighted the pivotal role of the placenta for a healthy pregnancy, its potential contribution to pregnancy complications and birth defects continues to be overlooked.. Scientists call mutations that cause death in the womb embryonic lethal. Mouse lethal genes are enriched ...
Although this research uses mice, the findings are likely to be highly relevant to complications during human pregnancy and the study highlights the need for more work to be done on investigating development of the placenta during human pregnancies.. The placenta is vital for normal pregnancy progression and embryo development in most animals that give birth to live young, including humans. It provides a unique and highly specialised interface between the embryo and the mother, ensuring an adequate provision of nutrients and oxygen to the embryo. The placenta is also involved in waste disposal from the embryo and produces important hormones that help sustain pregnancy and promote fetal growth. Although previous research has highlighted the pivotal role of the placenta for a healthy pregnancy, its potential contribution to pregnancy complications and birth defects continues to be overlooked.. Scientists call mutations that cause death in the womb embryonic lethal. Mouse lethal genes are enriched ...
Balanced lethal. letal equilibrado. A dominant or recessive gene when substituted for its normal allelomorph converts a viable to an inviable gamete or zygote; lethal gene. balanced polymorphism. polimorfismo equilibrado. A form of genetic stability in a population that is maintained by natural selection because the heterozygotes for particular alleles have a higher adaptive capacity than either homozygote. balausta. balausta. A dry, indehiscent, 41 barbellate many-seeded, many-loculed fruit with a leathery pericarp, as in the pomegranate (Punicaceae). Aromatic. aromático. A sweet smelling or fragrant plant; having an agreeable odor. around. rodear. Encircle. arrange. arreglar. disponer. Placed in a particular order. arrect. arecto. Brought into an upright position; stiffly upright. arrhenokaryon. arrenconcarion. arrenonúcleo. A nucleus having two separate sets of haploid chromosomes. arrhizal. arrizo. Having no roots; rootless. arrow-shaped. sagitado. Sagittate. arthro-. artro-. A Greek and ...
Background: Functional activation of oncogenic K-Ras signaling pathway plays an important role in the early events of colorectal carcinogenesis (CRC). K-Ras proto-oncogene is involved in 35-40% of CRC cases. Mutations in the Ras gene trigger the transduction of proliferative and anti-apoptotic signals, even in the absence of extra cellular stimuli. The objective of the current study was to use a gene-targeting approach to kill human CRC cells selectively harboring mutated K-Ras. Results: A recombinant adenovirus that carries a lethal gene, PUMA, under the control of a Ras responsive promoter (Ad-Py4-SV40-PUMA) was used selectively to target CRC cells (HCT116, SW480, DLD1 and RIE-Ras) that possess a hyperactive Ras pathway while using HT29 and RIE cells as a control that harbors wild type Ras and exhibit very low Ras activity. Control vector, without the Ras responsive promoter elements was used to assess the specificity of our gene therapy approach. Both adenoviral vectors were assed in vitro ...
I am responsible for teaching insect physiology and toxicology. My research started on the physiology of the insect circulatory system then switched to insect neurophysiological techniques aimed at describing the mode of action of neurotoxic insecticides. I briefly studied insecticide resistance in cotton pests coinciding with the introduction of synthetic pyrethroids, and then worked on the physiology of cotton pests, especially diapause in the pink bollworm, Pectinophora gossypiella (Saunders). I was asked by USDA-APHIS to explore strategies for improving the sterile insect technique for controlling pink bollworm by replacing radiation with conditional lethal genes. In the summer of 2004 we created our first transgenic pink bollworm with a functioning lethal RIDL gene supplied by Luke Alphey of Oxford University. Our collaborators in USDA-APHIS have applied for permits to field release these transgenic insect strains meant for population suppression. Work on insect transformation brought us in ...
These mosquitoes are genetically engineered to kill - their own children.. Researchers on Sunday reported initial signs of success from the first release into the environment of mosquitoes engineered to pass a lethal gene to their offspring, killing them before they reach adulthood.. The results, and other work elsewhere, could herald an age in which genetically modified insects will be used to help control agricultural pests and insect-borne diseases like dengue fever and malaria.. But the research is arousing concern about possible unintended effects on public health and the environment, because once genetically modified insects are released, they cannot be recalled.. Authorities in the Florida Keys, which in 2009 experienced its first cases of dengue fever in decades, hope to conduct an open-air test of the modified mosquitoes as early as December, pending approval from the Agriculture Department.. Its a more ecologically friendly way to control mosquitoes than spraying insecticides, said ...
These mosquitoes are genetically engineered to kill - their own children.. Researchers on Sunday reported initial signs of success from the first release into the environment of mosquitoes engineered to pass a lethal gene to their offspring, killing them before they reach adulthood.. The results, and other work elsewhere, could herald an age in which genetically modified insects will be used to help control agricultural pests and insect-borne diseases like dengue fever and malaria.. But the research is arousing concern about possible unintended effects on public health and the environment, because once genetically modified insects are released, they cannot be recalled.. Authorities in the Florida Keys, which in 2009 experienced its first cases of dengue fever in decades, hope to conduct an open-air test of the modified mosquitoes as early as December, pending approval from the Agriculture Department.. Its a more ecologically friendly way to control mosquitoes than spraying insecticides, said ...
and Biotechs experiment becomes our disaster. Action Alert!. In 2013, a British biotech company, Oxitec, unleased nearly half a million genetically modified mosquitoes in Brazil in an attempt to reduce mosquito-borne diseases. But the experiment has not gone to plan, according to a new paper: the experiment has resulted in the unintended contamination of the local mosquito population, despite the assurances from Oxitec that this would not happen. We must make sure similar experiments are not allowed to occur on American soil.. Oxitec developed a GM mosquito that has a dominant lethal gene that is supposed to result in infertile offspring. The goal of the GM mosquito experiment was to reduce the number of mosquitoes while not affecting the genetic integrity of the population. It appears, though, that a certain percentage of the offspring of the genetically modified mosquitoes are surviving.. This genetic intermingling could have far-reaching consequences. The mosquitoes in Brazil, as a result of ...
We would like to explain that the term LETHAL WHITE (discovered while doing research) is simply a term (not the lethal gene found in Paint horses with Overo Lethal White Syndrome in which the affected foal dies within 72 hours) referring to either a Blue Merle or Red Merle Aussie, born of a Merle-to-Merle breeding, who inherited 2 merle genes at birth. For a detailed explanation, please read this article The Trouble With Merle by C.A. Sharp. We chose to use this term in our campaign to identify these particular Aussies. We also hope to lessen the confusion between Lethals and Pattern Whites. Some people feel this term was created by breeders to justify culling (killing at birth) these white pups. Others feel it is derogatory to those wonderful white Aussies that exist and excel. We strongly believe it is a term beneficial to bring about awareness. Our use of the term Lethal White (also known as homozygous or double merle and considered more politically correct terms) represents the ...
Advances in molecular screening technology have enabled the identification of novel synthetic lethal gene combinations, enabling the development of lead candidates that leverage the aforementioned phenomenon to offer therapeutic benefit. Roots Analysis is pleased to announce the publication of its recent study, titled,
Utilising a bespoke paired guide CRISPR library to identify novel synthetically lethal gene targets in multiple cancer types. The project involves large-scale CRISPR screens in multiple cell lines for four cancer types: pancreas, non-small cell lung cancer (NSCLC), melanoma, and uveal melanoma.
Its a statistical certainty that we possess more lethal genes that activate in afterwards daily life than in early daily life. As a result, to extend lifetime, we should have the ability to avoid these genes from switching on, and we should always have the ability to accomplish that by determining improvements in the internal chemical atmosphere of the overall body that occur all through aging... and by simulating the superficial chemical Attributes of a younger physique.[ninety four ...
The organization of essential genes in the unc-22 region, defined by the deficiency sDf2 on linkage group IV, has been studied. Using the balancer nT1 (IV;V), which suppresses recombination over 49 map units, 294 lethal mutations on LGIV(right) and LGV(left) were recovered using EMS mutagenesis. Twenty-six of these mutations fell into the unc-22 region. Together with previously isolated lethal mutations, there is now a total of 63 lethal mutations which fall into 31 complementation groups. Mutations were positioned on the map using eight overlapping deficiencies in addition to sDf2. The lethal alleles and deficiencies in the unc-22 region were characterized with respect to their terminal phenotypes. Mapping of these lethal mutations shows that sDf2 deletes a minimum of 1.8 map units and a maximum of 2.5 map units. A minimum estimate of essential gene number for the region using a truncated Poisson calculation is 48. The data indicate a minimum estimate of approximately 3500 essential genes in ...
Sequencing of tumor genomes has shown that many loss-of-function alterations exist in cancer cells. Some of these alterations are a product of the cancerous progression of such cells, while others play a causative role. Unlike gain-of-function or overexpression alterations, these loss-of-function alterations are difficult to target directly, meaning that alternative approaches are necessary. In this case, such alterations can be specifically targeted through utilizing synthetic lethal interactions, whereby simultaneous inhibition of a particular interacting partner gene causes lethality in the context of a previously inactivated gene. Such a loss-of-function alteration occurs in the case of the EPHB6 receptor tyrosine kinase, which is downregulated in multiple cancer types. This downregulation of EPHB6, along with its inherent anti-malignant properties, make it a logical target for the synthetic lethal approach. In my thesis, I describe the use of a large-scale genome-wide screen of EPHB6 in ...
Thirty-four transgenic mouse strains, each carrying a single proviral insert, were generated by infection of preimplantation and postimplantation embryos with retroviruses. Animals homozygous for proviral integrations were derived for all strains with the exception of Mov 24, where the provirus is inserted on the Y chromosome, and Mov 34. Embryos homozygous at the Mov 34 locus develop normally to the blastocyst stage and die shortly after implantation, indicating that virus integration resulted in a recessive lethal mutation. The provirus and flanking sequences were cloned and the virus was mapped to the 5 side of an abundantly and ubiquitously transcribed gene. Similar to the previously derived Mov 13 mutation, proviral integration at the Mov 34 locus interferes with the expression of the adjacent gene. These and our previous results indicate that of a total of 48 proviral integrations in the germ line, two resulted in transgenic mouse strains with recessive lethal mutations.
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Cancer is a leading cause of death throughout the World. A limitation of many current chemotherapeutic approaches is that their cytotoxic effects are not restricted to cancer cells, and adverse side effects can occur within normal tissues. Consequently, novel strategies are urgently needed to better target cancer cells. As we approach the era of personalized medicine, targeting the specific molecular defect(s) within a given patients tumor will become a more effective treatment strategy than traditional approaches that often target a given cancer type or sub-type. Synthetic genetic interactions are now being examined for their therapeutic potential and are designed to target the specific genetic and epigenetic phenomena associated with tumor formation, and thus are predicted to be highly selective. In general, two complementary approaches have been employed, including synthetic lethality and synthetic dosage lethality, to target aberrant expression and/or function associated with tumor suppressor genes
Sulahian R, Kwon JJ, Walsh KH, et al. Synthetic Lethal Interaction of SHOC2 Depletion with MEK Inhibition in RAS-Driven Cancers. Cell Rep. 2019;29(1):118-134.e8. doi:10.1016/j.celrep.2019.08.090. ...
K Records magnate Calvin Johnson (of Beat Happening, Dub Narcotic Sound System et al) has a few East Coast/Midwest dates this week, including a show on Wednesday (5/22) at Ran Tea House with labelmate Ian Svenonius Chain & the Gang, and Arrington de Dionysos Malaikat dan Singa, and t ...
Two genes are synthetic lethal if mutation of either alone is compatible with viability but mutation of both leads to death. So, targeting a gene that is synthetic lethal to a cancer-relevant mutation should kill only cancer cells and spare normal cells. Synthetic lethality therefore provides a conc …
Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting from knockouts of these genes in mice have provided tremendous insight into gene function and congenital disorders. As part of the International Mouse Phenotyping Consortium effort to generate and phenotypically characterize 5,000 knockout mouse lines, here we identify 410 lethal genes during the production of the first 1,751 unique gene knockouts. Using a standardized phenotyping platform that incorporates high-resolution 3D imaging, we identify phenotypes at multiple time points for previously uncharacterized genes and additional phenotypes for genes with previously reported mutant phenotypes. Unexpectedly, our analysis reveals that incomplete penetrance and variable expressivity are common even on a defined genetic background. In addition, we show that human disease genes are enriched for essential genes, thus providing a dataset that facilitates the prioritization and validation of mutations identified in
b) lethal gene. 7. Write a short notes on the following:. a) Twin study.. b) Recombinant DNA technology.. 8. What do you mean by genetic screening? Explain the importance of genetic screening coupled with genetic counselling in treating hereditary diseases with examples.. 9. Explain the relevance of race as a criterion in modern society.. 10. What do you understand by the term nutritional stress? Explain any two major diseases associated with vitamin deficiencies.. 11. Define ecological anthropology. Explain various bio cultural adaptations of man in response to high altitude climate.. 12. What is a genetic marker? Explain the various anthropological variation of Rh Blood group as a genetic marker.. 13. What is the difference between growth and development? Explain different stages of growth after birth.. 14. Define ageing and senescence. What are the various theories explaining ageing in an individual?. 15. Write short notes on the following ...
Limited comparative data in mice indicate that chemical mutagens that induce dominant lethal mutations in males are not necessarily effective in females, but those which are effective in females are generally equally or more effective in males. Recently, however, a few chemicals have been identified that are female-specific with respect to induction of dominant lethal mutations. The antitumor antibiotic adriamycin is among them. Another antitumor antibiotic, bleomycin was examined for its ability to induce dominant lethal mutations in the reproductive cells of male and female mice. No dominant lethal or cytotoxic effects were observed in males treated with bleomycin, even at a maximum tolerated dose. In females, on the other hand, a dose nearly 1/4 of that used in males induced not only a high level of dominant lethal mutations but also killed oocytes in certain stages of follicular development. The effectiveness of bleomycin in inducing dominant lethal mutations in mouse oocytes makes it a ...
Ubiquitin regulates a myriad of important cellular processes through covalent attachment to its substrates. A classic role for ubiquitin is to flag proteins for destruction by the proteasome. Recent studies indicate that ubiquitin-binding proteins (e.g. Rad23, Dsk2, Rpn10) play a pivotal role in transferring ubiquitylated proteins to the proteasome. However, the specific role of these ubiquitin receptors remains poorly defined. A key to unraveling the functions of these ubiquitin receptors is to identify their cellular substrates and biological circuits they are involved in. Although many strategies have been developed for substrate isolation, the identification of physiological targets of proteolytic pathways has proven to be quite challenging. Using a genome-wide functional screen, we have identified 11 yeast genes that cause slower growth upon their overexpression in cells lacking two ubiquitin-binding proteins Rad23 and Dsk2. Our results suggest that proper functioning of Rad23 and Dsk2 is required
Twenty-one X-linked recessive lethal and sterile mutations balanced by an unlinked X-chromosome duplication have been identified following EMS treatment of the small nematode, Caenorhabditis elegans. The mutations have been assigned by complementation analysis to 14 genes, four of which have more than one mutant allele. Four mutants, all alleles, are temperature-sensitive embryonic lethals. Twelve mutants, in ten genes, are early larval lethals. TWO mutants are late larval lethals, and the expression of one of these is influenced by the number of X chromosomes in the genotype. Two mutants are maternal-effect lethals; for both, oocytes made by mutant hermaphrodites are rescuable by wild-type sperm. One of the maternal-effect lethals and two larval lethals are allelic. One mutant makes defective sperm. The lethals and steriles have been mapped by recombination and by complementation testing against 19 deficiencies identified after X-ray treatment. The deficiencies divide the region, about 15% of ...
We have generated several hundred lines of zebrafish (Danio rerio), each heterozygous for a recessive embryonic lethal mutation. Since many tumor suppressor genes are recessive lethals, we screened our colony for lines that display early mortality and/or gross evidence of tumors. We identified 12 li …
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I began my research career in the laboratory of Dr. Sarah Bray at the University of Cambridge. There, I studied the direct transcriptional outputs of Notch signaling and crosstalk with the EGFR pathway using Drosophila as a model system. From this work, I gained valuable experience working with transcriptomics datasets and developed an appreciation of the network-like organization of signaling pathways. In addition, I realized the advantages of using model organisms such as Drosophila to tease apart the mechanisms of complex systems relevant to mammalian models and humans.. For my postdoctoral work, I joined Dr. Norbert Perrimons laboratory at Harvard Medical School. Here, my interest in signaling networks led me to develop combinatorial screening methods to identify synthetic lethal interactions in a high-throughput manner. A synthetic lethal interaction is a relationship between two genes where simultaneous disruption of both is lethal but disruption of either gene alone is not. Knowledge of ...
Supplementary MaterialsData_Sheet_1. and KDM5C attenuation affected DNA harm response and improved DNA double-strand breaks (DSBs), and reduced advancement of UV-irradiated embryos. Results from this research exposed that both KDM5B and KDM5C are essential regulators of early advancement in porcine embryos as their attenuation modified H3K4 and H3K9 methylation patterns, perturbed embryo genome activation, and reduced DNA damage restoration capability. Maturation (IVM) Ovaries of prepubertal gilts had been collected at an area slaughterhouse (Olymel S.E.C./L.P., Saint-Esprit, QC, Canada) and transferred to the lab at 32C in saline option including penicillin (100 UI/ml) and streptomycin (10 mg/ml). Cumulus-oocyte complexes (COCs) had been aspirated from 3 to 6 mm follicles utilizing a 10 mL syringe and 20-measure needle in TMP 269 distributor support of COCs having at the least three cumulus cells levels and a homogeneous granulated cytoplasm had been chosen for IVM. Sets of 30 COCs had been ...
We wanted to assess whether B-cell and/or T-cell reactions to collagen and thereby the course of collagen-induced arthritis could be suppressed by regulatory mechanisms associated with oral tolerance to an unrelated protein. splenocyte secretion of IFN- and IL-10 in response to BCII. Our results demonstrate that OVA-specific regulatory occasions induced by nourishing OVA, i.e. bystander suppression, decreased the severe nature of arthritis in animals immunized with OVA and BCII. Anti-BCII particular antibody replies and cytokine secretion by types 1 and 2 T helper cells had been also reduced. Keywords: bystander suppression, collagen-induced joint disease, mice, dental tolerance, Th1/Th2 cells Launch It is today more developed that intestinal contact with antigen decreases T-cell-mediated swelling and BILN 2061 specific B-cell reactions to the antigen in question. This ability of the intestinal immune system has been shown, for example, with respect to antigens such as food proteins [1] and ...
Signs of Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality including medical signs and symptoms of Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality, symptoms, misdiagnosis, tests, common medical issues, duration, and the correct diagnosis for Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality signs or Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality symptoms.
TY - JOUR. T1 - Genome-scale gene/reaction essentiality and synthetic lethality analysis. AU - Suthers, Patrick F.. AU - Zomorrodi, Alireza. AU - Maranas, Costas D.. PY - 2009/1/20. Y1 - 2009/1/20. N2 - Synthetic lethals are to pairs of non-essential genes whose simultaneous deletion prohibits growth. One can extend the concept of synthetic lethality by considering gene groups of increasing size where only the simultaneous elimination of all genes is lethal, whereas individual gene deletions are not. We developed optimization-based procedures for the exhaustive and targeted enumeration of multi-gene (and by extension multi-reaction) lethals for genome-scale metabolic models. Specifically, these approaches are applied to iAF1260, the latest model of Escherichia coli, leading to the complete identification of all double and triple gene and reaction synthetic lethals as well as the targeted identification of quadruples and some higher-order ones. Graph representations of these synthetic lethals ...
One of the major challenges of developmental biology is understanding the inductive and morphogenetic processes that shape the vertebrate embryo. In a large-scale genetic screen for zygotic effect, embryonic lethal mutations in zebrafish we have identified 25 mutations that affect specification of cell fates and/or cellular rearrangements during gastrulation. These mutations define at least 14 complementation groups, four of which correspond to previously identified genes. Phenotypic analysis of the ten novel loci revealed three groups of mutations causing distinct effects on cell fates in the gastrula. One group comprises mutations that lead to deficiencies in dorsal mesodermal fates and affect central nervous system patterning. Mutations from the second group affect formation of ventroposterior embryonic structures. We suggest that mutations in these two groups identify genes necessary for the formation, maintenance or function of the dorsal organizer and the ventral signaling pathway, ...
Here, we demonstrated the feasibility of a chemical synthetic lethality screen in cultured MEFs using a double-label fluorescence system. The major challenge in the present work has been to identify a replicon that can stably replicate in MEFs while under selection and decay spontaneously at a reasonable rate on removal of selection pressure. Our initial attempt, which employed polyoma virus replicons, failed. These replicons, containing wild-type or mutated enhancer/origin of DNA replication and encoding polyoma large T antigen, were shown previously to be capable of replicating in either somatic mouse cells (16) or pluripotent embryonal mouse cells such as EC cells (17, 18) or mouse ES cells (19), respectively. However, we found out that these polyoma-based replicons could not replicate in MEFs, which are late embryonal mouse cells. In contrast, employment of the EBV-based episomal survival plasmid, previously used in human cells (13), turned out to be suitable for synthetic lethality ...
Causes of Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality including triggers, hidden medical causes of Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality, risk factors, and what causes Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality.
Global fitness analysis makes use of a genomic library of tagged deletion strains. We used this approach to study the effect of chitosan, which causes plasma membrane stress. The data were analyzed using T-profiler, which was based on determining the sensitivities of groups of deletion strains to chitosan, as defined by Gene Ontology (GO) and by genomic synthetic lethality screens, in combination with t statistics. The chitosan-hypersensitive groups included a group of deletion strains characterized by a defective HOG (high-osmolarity glycerol) signaling pathway, indicating that the HOG pathway is required for counteracting chitosan-induced stress. Consistent with this, activation of this pathway in wild-type cells by hypertonic conditions offered partial protection against chitosan, whereas hypotonic conditions sensitized the cells to chitosan. Other chitosan-hypersensitive groups were defective in RNA synthesis and processing, actin cytoskeleton organization, protein N-glycosylation, ...
Triple-negative breast cancers (TNBC) are the most aggressive subtype of breast cancer and account for roughly 15% of human breast cancers. No effective targeted therapies are currently available against these tumors, at least in part due to their genetic and epigenetic heterogeneity. Yet, TNBCs are commonly enriched for cells arrested in a progenitor-like state. We therefore performed a genome-wide siRNA lethality screen to identify selective TNBC dependencies associated with this particular phenotype in vitro. These studies led to the identification of several spliceosome genes, including the core splicing factor SF3B1, as selectively and recurrently essential for progenitor-like (or basal-A) TNBC cell lines. On this basis, we examined the antitumor effect of E7107, a clinically tested SF3B1 inhibitor, on multiple TNBC cell lines. In vitro, treatment with E7107 for 24-48 hr selectively killed basal-A cell lines relative to differentiated luminal cell lines, decreasing viability by ≈40% or ...
This abstract is being presented as a short talk in the scientific program. A full abstract is printed in the Proffered Abstracts section (PR07) of the Conference Proceedings.. Citation Format: Samuel Sidi. Synthetic lethal screens in zebrafish. [abstract]. In: Proceedings of the AACR Precision Medicine Series: Synthetic Lethal Approaches to Cancer Vulnerabilities; May 17-20, 2013; Bellevue, WA. Philadelphia (PA): AACR; Mol Cancer Ther 2013;12(5 Suppl):Abstract nr A11.. ...
VANCOUVER, April 3, 2017- Sierra Oncology Collaborator ICR Reports Preclinical Synthetic Lethality Data for Chk1 Inhibitor SRA737 at AACR.
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3.4 Morgan's small Mendelian genes in Drosophila, 1912. *3.5 Muller's balanced lethal explanation of Oenothera "mutations", ... The different forms existed in a stable polymorphism controlled by 2 Mendelian factors (genes). The alleles of these genes were ... Morgan's small Mendelian genes in Drosophila, 1912[edit]. Thomas Hunt Morgan's work on Drosophila melanogaster found many small ... Muller's balanced lethal explanation of Oenothera "mutations", 1918[edit]. De Vries's mutationism was dealt a serious if not ...
Lethal or damaging genes[change , change source]. Some gene alleles (versions of a gene) can damage the baby. ... Many genetic disorders are caused by mutations (or changes) in gene alleles. Mutations can cause development to go wrong, or a ...
Gene 609638 epidermolysis bullosa, lethal acantholytic 6p24 DSP Epidermolysis bullosa acquisita[edit]. Main article: ... There are 54 known keratin genes-of which 28 belong to the type I intermediate filament genes and 26 to type II-which work as ... If the balance of production could be shifted away from the mutated, dysfunctional keratin gene toward an intact keratin gene, ... EB is due to a mutation in at least one of 18 different genes.[1] Some types are autosomal dominant while others are autosomal ...
Foals with Lethal white syndrome (LWS) have two copies of the Frame overo gene and are born with white or nearly white coats ... The KIT gene itself seems prone to mutation, and so new alleles of W could occur in virtually any breed. The KIT gene encodes a ... A gene is a unit of heredity which encodes the instructions to make molecules. An allele is a specific version of a gene. ... The W locus was mapped to the KIT gene in 2007. The terms "Kit oncogene" and "dominant spotting" gene, symbolized by KIT and W ...
These are sex-lethal, sisterless, and deadpan. Deadpan is an autosomal gene which inhibits sex-lethal, while sisterless is ... The y gene is an ideal gene to study as it is visibly clear when an organisim has this gene, making it easier to understand the ... However, an AAXX cell will produce enough sisterless to inhibit the action of deadpan, allowing the sex-lethal gene to be ... Later, control by deadpan and sisterless disappears and what becomes important is the form of the sex-lethal gene. A secondary ...
Lobo I (January 2008). "Mendelian Ratios and Lethal Genes". Nature Education. 1 (1): 138. Pevsner J (2009). "Pairwise Sequence ... If a point mutation occurs within an expressed region of a gene, an exon, then this will change the codon specifying a ... Campbell NA, Reece JB, Meyers N, Urry LA, Cain ML, Wasserman SA, Minorsky PV, Jackson RB (2009). "From Gene to Protein". ... In particular, silent mutations are not point accepted mutations, nor are mutations which are lethal or which are rejected by ...
Lobo, Ingrid (2008). "Mendelian Ratios and Lethal Genes". Nature. Retrieved 19 October 2013. CS1 maint: discouraged parameter ( ... BLOSUM scores was used to predict and understand the surface gene variants among hepatitis B virus carriers and T-cell epitopes ... Campbell NA; Reece JB; Meyers N; Urry LA; Cain ML; Wasserman SA; Minorsky PV; Jackson RB (2009). "From Gene to Protein". ... Roque-Afonso AM, Ferey MP, Ly TD (2007). "Viral and clinical factors associated with surface gene variants among hepatitis B ...
ISBN 0-8069-6460-X. Gill, Victoria (July 23, 2015). "Boa constrictors' lethal secret revealed". BBC News. Montgomery, G. Gene; ...
General Trsp gene deletion is lethal to the embryo. The results of this research was used as a model for Kashin-Beck disease. ... General gene knock out of the TGF-β resulted in death. Conditional inactivation of TGF-βr2 of osteochondroprogenitor cells in ... Sox9 blocked osteochondroprogenitor cells were found to express osteoblast marker genes, reprogramming the cells into the ... The disease has symptoms similar to those resulting from Trsp gene knockout.[12] ...
... "overo gene" is what "causes" lethal white syndrome.[1] The frame allele is associated with lethal white, but the other genetics ... The frame overo gene can be masked by other white patterns, particularly tobiano, which is a dominant gene and epistatic to ... It is created by a different gene from any of the overo patterns and is a dominant gene. All tobianos must have at least one ... Although the condition lethal white syndrome is also sometimes called "overo lethal white", that term is somewhat a misnomer. ...
He gained widespread notice for writing the screenplays for Lethal Weapon 2 and later for Lethal Weapon 3. Indiana Jones and ... Siskel, Gene (June 12, 1988). "Chevy Chase gets serious - about movie making at least". St. Petersburg Times. p. 3F. Maslin, ... Lethal Weapon 2 (1989) Lethal Weapon 3 (with Robert Mark Kamen, 1992) The Witches of Eastwick (with Michael Cristofer and ... Lethal Weapon was written by Shane Black, and was released in the spring of 1987. A buddy-cop story, it starred Mel Gibson as ...
... and Its Autonomous Cell-Lethal Genes". American Zoologist. 18 (2): 195-206. doi:10.1093/icb/18.2.195.. ... The genes responsible for neoteny in laboratory animals may have been identified; however, they are not linked in wild ... Axolotls are used in heart defect studies due to the presence of a mutant gene that causes heart failure in embryos. Since the ... Identification of Genes Involved in Limb Regeneration in the Axolotl Ambystoma mexicanum ...
The gene 5 protein is then displaced by the gene 8 coat protein as the nascent phage is extruded across the bacterial plasma ... Genetic studies on M13 using conditional lethal mutants, initiated by David Pratt and colleagues, led to description of phage ... These proteins are the products of phage genes 3 and 6 at one end of the phage, and phage genes 7 and 9 at the other end. The ... Gene 1, coding for an ATPase, is a conserved marker gene that (along with three additional genetic features) was used to ...
... since two genes, gene 2 and gene 1, have internal in-frame translation starts, generating two additional proteins, p10 and p11 ... Pratt D, Tzagoloff H, Beaudoin J (September 1969). "Conditional lethal mutants of the small filamentous coliphage M13. II. Two ... The gene encoding p1 has been used as a conserved marker gene, along with three other features specific for inovirus genomes, ... Rapoza MP, Webster RE (May 1995). "The products of gene I and the overlapping in-frame gene XI are required for filamentous ...
There are different degrees of folding, and more genes may be involved in the expression of the Fd gene. This gene is ... This is not always in the best interests of the cat, as many of these mutations are harmful; some are even lethal in their ... X-rays can determine the structure of the extra toes and whether the cat has the gene for RH. Cats with the gene for RH should ... Cu = American Curl gene (dominant). Cats with this gene have ears that start out normal, but gradually curl backwards. So far, ...
Gene[edit]. The human TNF gene (TNFA) was cloned in 1985.[22] It maps to chromosome 6p21.3, spans about 3 kilobases and ... They then identified TNF as a mediator of lethal endotoxin poisoning.[19] Kevin J. Tracey and Cerami discovered the key ... Gene ontology. Molecular function. • transcription regulatory region DNA binding. • protein binding. • protease binding. • ... negative regulation of gene expression. • protein localization to plasma membrane. • positive regulation of protein catabolic ...
Pratt, D. (1969). "Conditional lethal mutants of the small filamentous coliphage M13: II. Two genes for coat proteins". ...
... (MKS) is an autosomal recessive lethal malformation. Recently, two MKS genes, MKS1 and MKS3, have been ... encoded by these genes. The malfunction of this protein production is mainly responsible for this lethal disorder.[citation ... The disease is lethal. Most infants that are not stillborn with Meckel syndrome die within hours to days of birth. The longest ... The MKS1 gene has been identified as being associated with a ciliopathy. Dysplastic kidneys are prevalent in over 95% of all ...
Pines, Maya (2008). "Stalking a Lethal Gene:Discovering the Gene for Cystic Fibrosis". Howard Hughes Medical Institute. ... The gene was identified in June 1989, and the results were published in the journal Science on September 8, 1989. This ... Before joining NHGRI, he earned a reputation as a gene hunter at the University of Michigan. He has been elected to the ... His gene-hunting approach, which he named "positional cloning", developed into a powerful component of modern molecular ...
Mutations to essential genes are generally lethal and hence temperature-sensitive mutants enable researchers to induce the ... Thus genes employed in the repair of DNA damages were identified, as well as genes affecting genetic recombination. For example ... resulting in the identification of twenty-three essential genes. In the 1970s, several temperature-sensitive mutant genes were ... Conditional lethal mutants able to grow at high temperatures, but unable to grow at low temperatures, were also isolated in ...
Toxin-antitoxin genes are often inherited through horizontal gene transfer and are associated with pathogenic bacteria, having ... Torres B, Jaenecke S, Timmis KN, García JL, Díaz E (December 2003). "A dual lethal system to enhance containment of recombinant ... The gene of interest is then targeted to recombine into the ccdB locus, inactivating the transcription of the toxic protein. ... In the case of the well-characterised hok/sok system, in addition to the hok toxin and sok antitoxin, there is a third gene, ...
... (MKS) is an autosomal recessive lethal malformation. Recently, two MKS genes, MKS1 and MKS3, have been ... encoded by these genes.[4] The malfunction of this protein production is mainly responsible for this lethal disorder. ... The disease is lethal. Most infants that are not stillborn with Meckel syndrome die within hours to days of birth.[8] The ... Meckel-Gruber syndrome is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic dysplasia, central ...
Other genes[edit]. A family with recessive osteogenesis imperfecta has been reported to have a mutation in the TMEM38B gene on ... severe and usually lethal in the perinatal period. COL1A1, COL1A2,. 166210 (IIA), 610854 (IIB). autosomal dominant, ~100% de ... With Type VI this gene is a mutation of the SERPINF1 gene, and can result in an autosomal recessive pattern.[14] ... severe to lethal, associated with the protein leprecan. LEPRE1, P3H1. 610915. autosomal recessive ...
The genes in these regions are thought to be lethal when deleted. Proximal 18q- "OMIM Entry - # 601808 - CHROMOSOME 18q ... Some of those with IQ scores on the lower end of the spectrum probably actually had deletions encompassing the TCF4 gene. An ... TCF4 - In 2007, deletions of or point mutations in this gene were identified as the cause of Pitt-Hopkins syndrome. This is the ... If a deletion includes the TCF4 gene (located at 55,222,331-55,664,787), features of Pitt-Hopkins may be present, including ...
Homozygous deletions of the SNAP-25 gene are lethal. An additional study indicated that incorporation of a SNAP-25 transgene ... Gosso MF, de Geus EJ, van Belzen MJ, Polderman TJ, Heutink P, Boomsma DI, Posthuma D (September 2006). "The SNAP-25 gene is ... A single nucleotide polymorphism in the SNAP-25 gene promoter has been shown to influence the expression levels of the SNAP-25b ... Zhao N, Hashida H, Takahashi N, Sakaki Y (August 1994). "Cloning and sequence analysis of the human SNAP25 cDNA". Gene. 145 (2 ...
Lethal(2) giant larvae protein homolog 1 is a protein that in humans is encoded by the LLGL1 gene. This gene encodes a protein ... "Entrez Gene: LLGL1 lethal giant larvae homolog 1 (Drosophila)". Campbell HD, Fountain S, Young IG, et al. (1997). "Genomic ... 2002). "Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of ... The gene is located within the Smith-Magenis syndrome region on chromosome 17. ENSG00000131899 GRCh38: Ensembl release 89: ...
Most non-lethal mutants that have a non-wild type phenotype exhibit some activity, but significantly less than wild type. In C ... The human gene responsible for encoding ChAT is CHAT. Mutations in CHAT have been linked to congenital myasthenic syndrome, a ... This gene splicing mechanism which leads to cChAT and pChAT differences has been observed in various species, including both ... Strauss WL, Kemper RR, Jayakar P, Kong CF, Hersh LB, Hilt DC, Rabin M (1991). "Human choline acetyltransferase gene maps to ...
Winslow, Ron (8 December 2015). "New Gene Therapy Shows Promise for Lethal Blood Disease". The Wall Street Journal. Retrieved ... Beta thalassemia is caused by mutations to or deletions of the HBB gene leading to reduced or absent synthesis of the beta ... Gene therapy "Zynteglo dispersion for infusion - Summary of Product Characteristics (SmPC)". (emc). 12 May 2020. Retrieved 3 ... LentiGlobin BB305 is a lentiviral vector which inserts a functioning version of the HBB gene into a patient's blood-producing ...
It is hypothesized that there are genes in these regions that are lethal when deleted. ... Holoprosencephaly has been reported in some people with ring 18.[4] This is due to the deletion of the TGIF gene on the short ... TCF4 - In 2007, deletions of or point mutations in this gene, which is located on 18q, were identified as the cause of Pitt- ... TSHZ1 - Point mutations and deletions of this gene, located on 18q, are linked with congenital aural atresia [6] Individuals ...
"Lethal Influenza Virus Infection in Macaques Is Associated with Early Dysregulation of Inflammatory Related Genes". PLOS ... If two genes were the same, they were presumed to be the original gene.[59] ... and contractions of gene families. "The goal is to reconstruct the history of every gene in the human genome," said Evan ... immune response genes are under positive selection, and genes of T cell-mediated immunity, signal transduction, cell adhesion, ...
Lethal genes are usually recessive: an individual will die only if both parents carry the gene. Source for information on ... a gene that, under certain conditions, causes the death of the individual carrying it. ... lethal gene (lee-thăl) n. a gene that, under certain conditions, causes the death of the individual carrying it. Lethal genes ... Regulator Gene , regulatory gene In the operon theory of gene regulation, a gene that is involved in switching on or off the ...
lethal gene synonyms, lethal gene pronunciation, lethal gene translation, English dictionary definition of lethal gene. n. a ... gene that under certain conditions causes the death of an organism. Also called le′thal fac`tor, le′thal muta′tion. Noun 1. ... le′thal gene′. n. a gene that under certain conditions causes the death of an organism. Also called le′thal fac`tor, le′thal ... Lethal gene - definition of lethal gene by The Free Dictionary https://www.thefreedictionary.com/lethal+gene ...
... and now a gene associated with the body clock seems to makes its spread more likely in mice ... which codes for a protein that binds to and controls the activity of other genes within a cell. The team then used gene-editing ... Loss of a gene related to Arnt12 does seem to be associated with an increase in lung cancer, an effect that is enhanced when ... A recent study suggested that Arntl2 can raise the activity of a set of genes associated with metastasis and a poor prognosis ...
Red Tide is a Lethal Replikins Gene Disorder - read this article along with other careers information, tips and advice on ... lethal gene structural conservation, mutations, and rapid replication. Joint work* on advance detection provides time and gene ... Red Tide is a Lethal Replikins Gene Disorder. Published: Dec 03, 2018 ... 0.001 in 2016 and 2017 to contain two years pre-outbreak increasing highest concentration range of lethal Gene Replikin ...
A case in point is the mouse sodium channel modifier 1 (SCNM1), a gene that can turn a chronic disorder into a lethal disease. ... In the C57BL/6 background, a mutation in the sodium channel gene 8a (Scn8a) is lethal, and pups die after a month. In the ... Some diseases, such as familial Alzheimers disease (FAD), arise from a mutation in a single gene. In sporadic AD, however, ... complex interactions among multiple genes underlie the phenotype, and under these circumstances genetic background may strongly ...
When the scientists mapped the animals genomes, they discovered aberrant expression of a gene known as Grm1. The gene was not ... Researchers report that they have identified a gene that causes melanoma in mice. In humans, the same gene is involved in a ... "It is only in a melanocyte skin cell when the expression of this particular gene is turned on that it leads to the development ... more specific drug to target that gene or the protein it expresses." ...
Those whose leukemia cells carried mutations in a nefarious cancer gene called TP53 consistently achieved remission after ... Patients with the most lethal form of acute myeloid leukemia (AML) -- based on genetic profiles of their cancers -- typically ... In highly lethal type of leukemia, cancer gene predicts treatment response Patients whose cancer cells carry TP53 mutations ... In Highly Lethal Type of Leukemia, Cancer Gene Predicts Treatment Response (IMAGE) view more ...
By staining mutant embryos for myosin and actin we have recognized five distinct classes of genes: mutations in four genes ... we have identified 13 genes required for muscle assembly and function and discovered a new lethal class of alleles for three ... Mutations in another three genes also disrupt thick and thin filament assembly, but allow proper polarization of lattice ... By taking advantage of a lethal phenotype characteristic of Caenorhabditis elegans embryos that fail to move, ...
Regulates dosage compensation in females by suppressing hyperactivation of X-linked genes. Expression of the embryo-specific ... acts as a translational repressor for male-specific lethal-2 (MSL-2) and prevents male-less (MLE), MSL-1 and MSL-3 proteins ... "Drosophila Sister-of-Sex-lethal reinforces a male-specific gene expression pattern by controlling Sex-lethal alternative ... "Drosophila Sister-of-Sex-lethal reinforces a male-specific gene expression pattern by controlling Sex-lethal alternative ...
They found that the gene shares 75 percent of its sequence with a human gene called ANG2 (Another New Gene 2), and also shares ... Lethal Gene Mutation Key to Blocking Cholesterol Processing Uncovered. By Thomas Jefferson University Hospital, Apr 20, 2006 - ... The gene is well conserved across species and no one has discovered its function as yet, which makes it very exciting. The gene ... A number of genes that regulate lipid metabolism have yet to be determined, and there s much to learn about how animals process ...
... long-lasting reductions in bilirubin levels in a mouse model of CNS1 and is described in an Open Access article in Human Gene ... A new gene therapy approach to correcting this metabolic error achieved significant, ... Excessive and often lethal blood levels of bilirubin can result from mutations in a single gene that are the cause of the ... IMAGE: Human Gene Therapy, the Official Journal of the European Society of Gene and Cell Therapy, British Society for Gene and ...
Thus the gene identified by the embryo-defective lethal insertion mutation encodes an RPS16 homolog and has been designated the ... A transposon insertion in the Arabidopsis SSR16 gene causes an embryo-defective lethal mutation.. Tsugeki R1, Kochieva EZ, ... The SSR16 gene of Arabidopsis has been identified as a gene encoding a ribosomal protein S16 homolog through analysis of a ... The insertion mutation is lethal, arresting embryonic development at approximately the transition from the globular to the ...
The Sex-lethal gene of Drosophila: DNA alterations associated with sex-specific lethal mutations.. Maine EM, Salz HK, Cline TW ... Genomic DNA encoding Sex-lethal, a developmental switch gene in Drosophila melanogaster that regulates sex determination and ... DNA lesions associated with 12 of these mutations delimit an 11 kb DNA region that is necessary for proper Sex-lethal function ... Wild-type DNA sequence organization of the gene has been compared at the restriction level with those of 17 female-specific, ...
Five were lethal, 6 were lethal only in synthetic medium 13 were temperature-sensitive lethal and 2 had no discernible ... Conditional-lethal mutations of the single calmodulin gene in Saccharomyces cerevisiae have been very difficult to isolate by ... Structure-based systematic isolation of conditional-lethal mutations in the single yeast calmodulin gene.. Y Ohya and D ... Structure-based systematic isolation of conditional-lethal mutations in the single yeast calmodulin gene.. Y Ohya and D ...
To find the gene or genes that enabled the virus to invade the lungs, Kawaoka and his group blended genetic elements from the ... One exception, however, included a complex of three genes that, acting in concert with another key gene, allowed the virus to ... That gene makes hemagglutinin, a protein found on the surface of the virus and that confers on viral particles the ability to ... Using the relic genes, Kawaokas group was able to generate viruses that carry different combinations of the 1918 virus and ...
Gene expression databases. Bgee dataBase for Gene Expression Evolution. More...Bgeei. WBGene00003209 Expressed in 5 organ(s), ... based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.,p>,a href=/help/gene_centric_isoform_ ... Gene expression databases. Bgeei. WBGene00003209 Expressed in 5 organ(s), highest expression level in adult organism. ... This includes gene knockout and knockdown, provided experiments have been performed in the context of a whole organism or a ...
Disease-causing genes spread easily in emerging lethal fungus infection. February 13, 2017. by Gady Goldsobel ... Home » Infections » Disease-causing genes spread easily in emerging lethal fungus infection ... Joseph Heitman, MD, PhD from Duke University, said: "That the fungus can easily pass on the genes that make it more dangerous ... How common gut bacteria trigger a lethal autoimmune disease. *Chagas disease, caused by a parasite, has spread outside of Latin ...
... fragment encoding the first 22 residues of SMR2 with the ble gene. The in-frame fusion between the mat− gene and the ble gene ... Co-expression of the Mating-Type Genes Involved in Internuclear Recognition Is Lethal in Podospora anserina. Evelyne Coppin and ... Co-expression of the Mating-Type Genes Involved in Internuclear Recognition Is Lethal in Podospora anserina. Evelyne Coppin and ... Co-expression of the Mating-Type Genes Involved in Internuclear Recognition Is Lethal in Podospora anserina. Evelyne Coppin and ...
A synthetic lethal siRNA screen identifying genes mediating sensitivity to a PARP inhibitor.. [Nicholas C Turner, Christopher J ... Inhibitors of poly (ADP-ribose)-polymerase-1 (PARP) are highly lethal to cells with deficiencies in BRCA1, BRCA2 or other ... To discover new determinants of sensitivity to these drugs, we performed a PARP-inhibitor synthetic lethal short interfering ... These results highlight the potential of synthetic lethal siRNA screens with chemical inhibitors to define new determinants of ...
CHOP researchers have taken a significant step forward in developing gene therapy against Batten disease, a fatal ... Gene Therapy Makes Advances against a Lethal Childhood Disorder. CHOP researchers have taken a significant step forward in ... Single gene therapy treatment improved quality of life. "One treatment of gene therapy gave these dogs a remarkable improvement ... Effects of gene mutations in Batten disease. In most children with the late infantile form of Batten disease and the affected ...
... PLoS Pathog. ... Importantly, the 1918 virus up-regulated key components of the inflammasome, NLRP3 and IL-1beta, whereas these genes were down- ... To this end, we compared pathology and global gene expression profiles in bronchial tissue from macaques infected with either ... Global transcriptional profiles revealed that specific groups of genes associated with inflammation and cell death were up- ...
... to induce a lethal cytokine storm, and peptides that prevent this binding can suppress superantigen lethality. ... of Superantigen Toxins into the CD28 Homodimer Interface Is Essential for Induction of Cytokine Genes That Mediate Lethal Shock ...
... Brain InjuryAggressive, Lethal Brain Cancer Tied To Gene ... "Although each gene plays a specific role in the cell, sometimes errors in the DNA cause two ordinary genes to fuse into a ... looking specifically for gene fusions. The most common fusion they observed involved the genes FGFR (fibroblast growth factor ... "But we may be able to discover a number of other gene fusions, each accounting for a small percentage of tumors, and each with ...
Use of a synthetic lethal screen to identify genes related to TIF51A in Saccharomyces cerevisiae. ... Genes Letais/gen tica. Muta o/gen tica. Fatores de Inicia o de Pept deos/gen tica. Prote nas de Liga o a RNA/gen tica. Prote ... to identify factors that functionally interact with eIF5A and revealed the essential gene YPT1. This gene encodes a small ... A screen for synthetic lethal mutations was carried out with one of the temperature-sensitive alleles of TIF51A (tif51A-3) ...
... gene,therapy,to,correct,a,lethal,metabolic,disorder,biological,biology news articles,biology news today,latest biology news, ... CNS1 is an outstanding model for in vivo gene therapy with easily mea...,Long-term,treatment,success,using, ... New Rochelle NY October 9 2014-Excessive and often lethal blo...In a target _blank href http://online.liebertpub.com/doi/full/ ... In "Life-Long Correction of Hyperbilirubinemia with a Neonatal Liver-Specific AAV-Mediated Gene Transfer in a Lethal Mouse ...
... construct which directs the expression of a gene product (e.g., HSVTK) that activates a compound with little or no cytotoxicity ... said gene being expressed in said metastaticcarcinoma, said gene encoding a conditionally lethal gene product which activates a ... Thus, conditionally lethal genes from transcriptional promoter elements responsive to these viral "immediate early" gene ... Alternatively, a singlevector which directs the expression of both a cytotoxic gene or gene product, and a gene which encodes ...
Minor-HAg mismatch is found to promote lethal CMV disease in absence of a detectable GvH response to an immunodominant minor- ... Minor-HAg mismatch is found to promote lethal CMV disease in absence of a detectable GvH response to an immunodominant minor- ... HCT with C57BL/6 donors and MHC-congenic BALB.B recipients that only differ in polymorphic autosomal background genes, ... control of cytopathogenic infection is restored when viral antigen presentation is enhanced by deletion of immune evasion genes ...
... and CSR gene sets captured more than 1/5 of the genes in the highly prognostic SPC gene set. Based on gene expression patterns ... cortex gene set) and the glomerulus (glomerulus gene set), and a gene set expressed after serum stimulation of quiescent ... We explored the relationship of this gene list to a set of genes expressed in different anatomical segments of the normal ... they were not independent of the SPC gene list. Our findings suggest that critical biological features of lethal ccRCC include ...
Home / Research at NHGRI / DIR News Features / 2012 News Feature: Rare lethal disorder traced to variant of the PIGA gene on ... 2012 News Feature: Rare lethal disorder traced to variant of the PIGA gene on the X chromosome ... Rare lethal disorder traced to variant of the PIGA gene on the X chromosome. Next generation sequencing plays key role in ... 2012 News Feature: Rare lethal disorder traced to variant of the PIGA gene on the X chromosome. #query {background:#565656; ...
This study examined gene expression profiles of prostate tissue to identify biological processes differentially expressed by ... Gene expression profiling of prostate tissue identifies chromatin regulation as a potential link between obesity and lethal ... Pathway scores were computed by averaging the signal intensities of member genes. Odds ratios (ORs) for lethal prostate cancer ... Men were followed for metastases or prostate cancer-specific death (lethal disease) through 2011. Gene Ontology biological ...
  • A new automated quantitative method has been developed to survey, in advance of outbreak, lethal gene structural conservation, mutations, and rapid replication. (biospace.com)
  • But surprisingly, AML patients whose leukemia cells carried mutations in a nefarious cancer gene called TP53 consistently achieved remission after treatment with decitabine. (eurekalert.org)
  • By staining mutant embryos for myosin and actin we have recognized five distinct classes of genes: mutations in four genes disrupt the assembly of thick and thin filaments into the myofilamerit lattice as well as the polarized location of these components to the sarcolemma. (psu.edu)
  • Mutations in another three genes also disrupt thick and thin filament assembly, but allow proper polarization of lattice components based on the myosin heavy chain isoform that we analyzed. (psu.edu)
  • New Rochelle, NY, October 9, 2014--Excessive and often lethal blood levels of bilirubin can result from mutations in a single gene that are the cause of the metabolic disease known as Crigler-Najjar syndrome type 1 (CNS1). (eurekalert.org)
  • The Sex-lethal gene of Drosophila: DNA alterations associated with sex-specific lethal mutations. (nih.gov)
  • DNA lesions associated with 12 of these mutations delimit an 11 kb DNA region that is necessary for proper Sex-lethal function in females. (nih.gov)
  • Structure-based systematic isolation of conditional-lethal mutations in the single yeast calmodulin gene. (genetics.org)
  • Conditional-lethal mutations of the single calmodulin gene in Saccharomyces cerevisiae have been very difficult to isolate by random and systematic methods, despite the fact that deletions cause recessive lethality. (genetics.org)
  • Indirect arguments mainly based on epistatic relationships between mutations in mat genes (S. A rnaise , personal communication) suggest that SMR1 acts downstream of IR genes for initial development of the ascogenous hyphae after nuclear pairing. (genetics.org)
  • In most children with the late infantile form of Batten disease and the affected dogs, mutations in the TPP1 gene disable the body's ability to produce the enzyme tripeptidyl peptidase 1 (TPP1), which normally allows brain cells to recycle cellular waste. (chop.edu)
  • A screen for synthetic lethal mutations was carried out with one of the temperature-sensitive alleles of TIF51A (tif51A-3) to identify factors that functionally interact with eIF5A and revealed the essential gene YPT1. (bireme.br)
  • Working with the Indiana serotype of VSV, we employed a reverse genetic approach to produce fully authentic recombinant viral particles bearing lethal mutations in the G gene. (harvard.edu)
  • Propagation of viruses bearing those lethal mutations in G completely depended on complementation by expression of the glycoprotein from the heterologous New Jersey serotype of VSV. (harvard.edu)
  • Our work provides a set of authentic recombinant VSV particles bearing lethal mutations in G, confirms that the hydrophobic fusion loops of VSV G protein are critical for membrane fusion, and underscores the importance of the sequence elements surrounding the hydrophobic tips of the fusion loops in driving fusion. (harvard.edu)
  • These observations suggest that the basis for the synthetic lethal interaction between hpr1 Δ and acc1 may lie in a functional overlap of the two mutations in nuclear poly(A) + RNA production and export that results in an altered structure of the nucleolus. (asm.org)
  • Hpr1p has two regions of homology to topoisomerase I, Top1p ( 3 , 40 ), and hpr1 Δ mutants display synthetic lethality with mutations in all three DNA topoisomerase genes, TOP1 , TOP2 , and TOP3 ( 3 ). (asm.org)
  • In hpr1 Δ null mutants, transcription of many physiologically unrelated genes is affected ( 44 ) and the temperature-sensitive growth phenotype of hpr1 Δ mutants is suppressed by mutations in components of the general transcription machinery ( 12 , 27 , 41 ). (asm.org)
  • Menkes disease is a lethal infantile neurodegenerative disorder of copper metabolism caused by mutations in a P-type ATPase, ATP7A. (uzh.ch)
  • A lethal, genetic disorder characterized by severe deformation of elastic arteries, was linked to novel mutations in the FBLN4 gene. (biomedcentral.com)
  • The disorder is transmitted as an autosomal dominanttrait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. (malacards.org)
  • As cancer cells exhibit a large number of mutations, the identification of these mutated genes' SL partners may provide specific anti-cancer drug candidates, with minor perturbations to the healthy cells. (biomedcentral.com)
  • Platyspondylic lethal skeletal dysplasia, Torrance type is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. (medlineplus.gov)
  • All of the COL2A1 mutations that have been found to cause platyspondylic lethal skeletal dysplasia, Torrance type occur in a region of the protein called the C-propeptide domain. (medlineplus.gov)
  • In many cases, loss-of-function mutations can be used to reveal essential genes, provided they lead to recessive lethality so that they can be maintained in heterozygous diploids ( 12 , 13 ). (pnas.org)
  • BackgroundEmbryonic lethality is a recognized phenotypic expression of individual gene mutations in model organisms. (semanticscholar.org)
  • It is caused by mutations in the IRF6 gene, which codes for interferon regulatory factor 6. (ctgt.net)
  • This form is caused by mutations in the RIPK4 gene, which codes for receptor-interacting serine/threonine-protein kinase 4. (ctgt.net)
  • MIM 253290) is caused by mutations in the CHRNA1, CHRND and CHRNG genes, which code for acetylcholine receptor subunit alpha, delta and gamma, respectively. (ctgt.net)
  • Many genetic disorders are caused by mutations (or changes) in gene alleles . (wikipedia.org)
  • In lab populations of genetically engineered mosquitoes, mutations arose that blocked the gene drive's spread and restored female fertility. (the-scientist.com)
  • Read all about your inherited traits, DNA and genes as well as fascinating articles on mutations and mutated chromosomes. (brighthub.com)
  • Do you know the possible gene mutations that cause cancer? (brighthub.com)
  • This article describes this interesting gene, what it does in the human body, and the ribonuclease-1 gene mutations and the genetic studies that have helped biologists characterize its molecular function. (brighthub.com)
  • But what are the causes of gene and chromosome mutations? (brighthub.com)
  • Does Spontaneous Self Correction of Gene Mutations Happen? (brighthub.com)
  • Is spontaneous self-correction of gene mutations possible? (brighthub.com)
  • When testing finds lethal gene mutations, surgery may be an early option. (bostonglobe.com)
  • NEW YORK (GenomeWeb) - Investigators at Rutgers Cancer Institute of New Jersey have developed a statistical method called the loss of heterozygosity-germline inference calculator (LOHGIC), which they claim is able to classify mutations in tumor suppressor genes as somatic or germline and predict gene loss in cancer cells using data from tumor-only deep-sequencing assays. (genomeweb.com)
  • Dystrophic epidermolysis bullosa is caused by genetic defects (or mutations ) within the human COL7A1 gene encoding the protein type VII collagen (collagen VII). (wikipedia.org)
  • Moreover, in the hemagglutinin gene of a strain showing strongly reduced hemadsorption, 20 clustered A to G mutations, resulting in 16 amino acid changes, were detected. (elsevier.com)
  • Though through the years there have been many gene mutations, the Pla gene is considered to be the genetic source that allowed this bacteria to evolve into a pathogen able to cause severe respiratory illness. (smore.com)
  • The acquisition of the Pla gene and its later mutations manifested into new and fast emerging strains of the plague. (smore.com)
  • Related conditions occur in humans and rodents in which mutations in the endothelin receptor B (EDNRB) gene are responsible. (biomedsearch.com)
  • Mutations in the Ras gene trigger the transduction of proliferative and anti-apoptotic signals, even in the absence of extra cellular stimuli. (osti.gov)
  • Despite their highly malignant characteristics, most MRTs develop due to mutations that cause loss of a protein called SMARCB1, a member of the SWI/SNF protein complex that is responsible for proper DNA packaging and organization, and regulation of gene expression. (atlasofscience.org)
  • Our analysis identified genetic mutations, gene expression patterns and chemical modifications of DNA (DNA methylation) and of DNA-associating histone proteins, which regulate gene expression. (atlasofscience.org)
  • Some diseases, such as familial Alzheimer's disease (FAD), arise from a mutation in a single gene. (alzforum.org)
  • In the C57BL/6 background, a mutation in the sodium channel gene 8a (Scn8a) is lethal, and pups die after a month. (alzforum.org)
  • A change in only one base one letter in the DNA code results in the lethal mutation in zebrafish. (rxpgnews.com)
  • A transposon insertion in the Arabidopsis SSR16 gene causes an embryo-defective lethal mutation. (nih.gov)
  • The SSR16 gene of Arabidopsis has been identified as a gene encoding a ribosomal protein S16 homolog through analysis of a transposon insertion mutation. (nih.gov)
  • The insertion mutation is lethal, arresting embryonic development at approximately the transition from the globular to the heart stage of embryonic development. (nih.gov)
  • Thus the gene identified by the embryo-defective lethal insertion mutation encodes an RPS16 homolog and has been designated the SSR16 gene. (nih.gov)
  • This newly recognized disease is caused by a mutation in a gene that was previously only associated with a rare blood system disorder," said Leslie G. Biesecker, M.D., senior author and chief of NHGRI's Genetic Disease Research Branch. (genome.gov)
  • When the newly discovered PIGA gene mutation passes from parents through the lone X chromosome of a male child, all of the boy's cells are affected. (genome.gov)
  • Sequencing of the elastin, fibulin-4 and fibulin-5 genes revealed a homozygous missense mutation (p.Cys267Tyr) in the fibulin-4 gene in the patient. (uzh.ch)
  • We describe a syndrome of lethal arteriopathy associated with a novel,identical mutation in the fibulin 4 gene ( FBLN4 ) in a unique cohort of infants from South India. (biomedcentral.com)
  • Asp203Ala) mutation in exon 7 of the FBLN4 gene in all 22 patients, homozygous in 21, and compound heterozygous in one patient with a p. (biomedcentral.com)
  • Arg227Cys mutation in the same conserved cbEGF sequence.Homozygosity was lethal (17/21 died, median age 4 months). (biomedcentral.com)
  • Two genes are called synthetic lethal (SL) if mutation of either alone is not lethal, but mutation of both leads to death or a significant decrease in organism's fitness. (biomedcentral.com)
  • As a consequence, cancer cells which have lost essential genes by a mutation are eliminated from the tumor population. (biomedcentral.com)
  • In Arabidopsis thaliana , for example, only 2% of the genes identified by genomic sequencing can be assigned a genetic function on the basis of mutation. (pnas.org)
  • Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. (semanticscholar.org)
  • A novel mutation in the SUCLG1 gene was identified. (nih.gov)
  • Malate dehydrogenase is an important element of the metabolic pathway in the human body, and MDH gene mutation can prove disastrous. (brighthub.com)
  • Therefore, elastase 2 gene mutation can result in severely impaired immunity. (brighthub.com)
  • Prothrombin gene mutation, or PT gene mutation, is one cause of a condition called thrombophilia. (brighthub.com)
  • This article discusses the link between ALK gene mutation and cancer treatment. (brighthub.com)
  • Have you been wondering about the different gene mutation types? (brighthub.com)
  • MTP gene mutation may lead to a rare disease called abetalipoproteinemia. (brighthub.com)
  • A University of Pennsylvania Medical team has used CRISPR gene editing to thwart a lethal lung disease, in an animal model, in which a harmful mutation causes death within hours after birth. (aau.edu)
  • Both carried a rare gene mutation that can cause an aggressive form of cancer, and Walsh's four surviving siblings had little choice but to find out if they carried it, too. (bostonglobe.com)
  • The most commonly known are removal of the breasts, ovaries, and uterus for women who carry a gene mutation that can lead to cancers in those organs. (bostonglobe.com)
  • Following actress Angelina Jolie's announcement in May that she had had a prophylactic double mastectomy because she carries a gene mutation that sharply increases her risk of breast and ovarian cancer, the Walsh siblings decided to share their own cautionary tale. (bostonglobe.com)
  • But the hereditary diffuse cancer is rare: Approximately 150 families worldwide have been identified as carrying the gene mutation, though there are countless families that haven't been tested, according to the nonprofit organization that Lambert helps lead, No Stomach for Cancer (www.nostomachforcancer.org). (bostonglobe.com)
  • A mutation in the middle of the endothelin receptor type B (EDNRB) gene causes lethal white syndrome when homozygous. (wikipedia.org)
  • A mutation in the middle of the EDNRB gene, Ile118Lys, causes lethal white syndrome. (wikipedia.org)
  • EB is due to a mutation in at least one of 18 different genes. (wikipedia.org)
  • Through what researchers identify was a single gene mutation, this relatively harmless Yersinia pestis bacteria turned into a deadly one. (smore.com)
  • Did One Gene Mutation Launch the Black Death? (smore.com)
  • Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. (biomedsearch.com)
  • The spontaneous mouse grey-lethal (gl) mutation is responsible for a coat color defect and for the development of the most severe autosomal recessive form of osteopetrosis. (biomedsearch.com)
  • Mutation in the human GL gene leads to severe recessive osteopetrosis. (biomedsearch.com)
  • C57BL/6J Ay/a) mice, possessing a mutation (Ay) in the agouti gene locus, exhibit progressive obesity, reproductive dysfunction, and altered metabolic regulation similar to women with PCOS. (biomedcentral.com)
  • Mice heterozygous for the Lethal Yellow (LY) mutation at the agouti locus exhibit distinct characteristics including yellow coat color, adult onset obesity, and accelerated reproductive senescence [ 12 ]. (biomedcentral.com)
  • In sporadic AD, however, complex interactions among multiple genes underlie the phenotype, and under these circumstances genetic background may strongly influence the manifestation or progression of the disease in ways that largely still stump scientists. (alzforum.org)
  • By taking advantage of a lethal phenotype characteristic of Caenorhabditis elegans embryos that fail to move, we have identified 13 genes required for muscle assembly and function and discovered a new lethal class of alleles for three previously known muscle-affecting genes. (psu.edu)
  • Overexpression of some of the mutant genes restored the phenotype to nearly wild type. (genetics.org)
  • This information allows systematic analysis of genotype-phenotype connections and provides clues on homologous gene functions in species where large-scale loss-of-function analysis cannot be readily applied. (plantcell.org)
  • which result in many genes not exhibiting a phenotype under controlled conditions. (plantcell.org)
  • The synthetic lethal phenotype of the acc1 cs hpr1 Δ double mutant was only partially complemented by exogenous fatty acids. (asm.org)
  • dominant gene one that produces an effect (the phenotype) in the organism regardless of the state of the corresponding allele. (thefreedictionary.com)
  • major gene a gene whose effect on the phenotype is always evident, regardless of how this effect is modified by other genes. (thefreedictionary.com)
  • The conditional-lethal phenotype of the recombinant virus was shown by plaque assay (Fig. 1 ), in which the formation of plaques from vtetOI7L is dependent on the presence of TET, while the wild-type virus is unaffected by either the presence or absence of TET. (biomedcentral.com)
  • Oxitec's approach involves the insertion of a lethal gene into insect embryos using molecular genetic engineering techniques. (thefreedictionary.com)
  • With our understanding of at least one genetic factor in melanoma," Chen says, "we may now have the ability to design a new, more specific drug to target that gene or the protein it expresses. (scientificamerican.com)
  • Patients with the most lethal form of acute myeloid leukemia (AML) - based on genetic profiles of their cancers - typically survive for only four to six months after diagnosis, even with aggressive chemotherapy. (eurekalert.org)
  • To find the gene or genes that enabled the virus to invade the lungs, Kawaoka and his group blended genetic elements from the 1918 flu virus with those of a currently circulating avian influenza virus and tested the variants on ferrets, an animal that mimics human flu infection. (infectioncontroltoday.com)
  • In the current study, the CUMC researchers conducted genetic analyses of glioblastomas from nine patients, looking specifically for gene fusions. (tbilaw.com)
  • Project: Identification and cloning, by the use of a mouse molecular genetic approach, of new genes protecting against lethal inflammation and cardiovascular shock. (ugent.be)
  • operator gene one serving as a starting point for reading the genetic code, and which, through interaction with a repressor, controls the activity of structural genes associated with it in the operon. (thefreedictionary.com)
  • Homology searches can be used to indicate likely functions in many of the remaining genes, but the phenotypic role of individual gene family members is usually obscure without assessing gene function by genetic analysis. (pnas.org)
  • The aim of this study was to identify the causative genetic lesion in two apparently unrelated newborns having lethal lactic acidosis, multi-organ failure and congenital malformations including interrupted aortic arch, who exhibited mild methylmalonic aciduria, combined mitochondrial respiratory chain deficiency, and marked muscle mitochondrial DNA depletion. (nih.gov)
  • A novel technique for carrying out gene-expression profiling is set to challenge the market dominance of the current, widely used methodology, reports Genetic Engineering & Biotechnology News ( GEN ) . (news-medical.net)
  • the term "X-linked" is sometimes used synonymously with "sex-linked," since no genetic disorders have as yet been associated with genes on the Y chromosome. (thefreedictionary.com)
  • Lethal white syndrome (LWS), also called overo lethal white syndrome (OLWS), lethal white overo (LWO), and overo lethal white foal syndrome (OLWFS), is an autosomal genetic disorder most prevalent in the American Paint Horse. (wikipedia.org)
  • Genetic conditions which affect more than one physical trait-in the case of lethal white syndrome, both pigment cells and enteric nerve cells-are termed pleiotropic. (wikipedia.org)
  • One small tweak to genetic material of an organism can propel a mild mannered bacteria into a lethal pandemic causing pathogen (Dallas, 2015). (smore.com)
  • More patients are being recruited for an even larger project, which will look for more genes linked to anorexia nervosa and also investigate the genetic basis of bulimia and binge eating disorder. (abc.net.au)
  • UC Davis has identified the one gene responsible for this genetic defect, so lets examine what they have to say about it. (angelfire.com)
  • A gene drive is a natural process and technology of genetic engineering that propagates a particular suite of genes throughout a population by altering the probability that a specific allele will be transmitted to offspring (instead of the Mendelian 50% probability). (wikipedia.org)
  • Gene drives can be built from many naturally occurring selfish genetic elements that use a variety of molecular mechanisms. (wikipedia.org)
  • Genomic DNA encoding Sex-lethal, a developmental switch gene in Drosophila melanogaster that regulates sex determination and dosage compensation has been isolated. (nih.gov)
  • Wingless (wg) is a segment-polarity gene in Drosophila which is related to the murine proto-oncogene int1. (biologists.org)
  • Drosophila switch gene Sex-lethal can bypass its switch-gene target transformer to regulate aspects of female behavior. (escholarship.org)
  • The switch gene Sex-lethal (Sxl) was thought to elicit all aspects of Drosophila female somatic differentiation other than size dimorphism by controlling only the switch gene transformer (tra). (escholarship.org)
  • The Drosophila Female-Specific Sex-Determination Gene, Sex-Lethal, Has" by Helen K. Salz, Eleanor M. Maine et al. (syr.edu)
  • Wild-type DNA sequence organization of the gene has been compared at the restriction level with those of 17 female-specific, loss-of-function and five male-specific, gain-of-function mutant alleles. (nih.gov)
  • In contrast, all five gain-of-function alleles are associated with DNA insertions that are clustered within a 1 kb portion of the Sxl gene region. (nih.gov)
  • Some gene alleles (versions of a gene) can damage the baby. (wikipedia.org)
  • In sexually-reproducing species, most genes are present in two copies (which can be the same or different alleles), either one of which has a 50% chance of passing to a descendant. (wikipedia.org)
  • Lethal genes are usually recessive: an individual will die only if both parents carry the gene. (encyclopedia.com)
  • This situation is similar to the condition that natural selection acts against a recessive lethal gene and elimination of recessive homozygous is complete with no heterozygous advantage or disadvantage (Falconer and Mackay 1996). (thefreedictionary.com)
  • Bone Dysplasia, Lethal, Holmgren Type, is also known as autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type . (malacards.org)
  • recessive gene one that produces an effect in the organism only when it is transmitted by both parents, i.e., only when the individual is homozygous. (thefreedictionary.com)
  • An autosomal recessive form of PPS, popliteal pterygium syndrome, lethal type (MIM 263650) also known as Bartsocas-Papas syndrome, is more severe than the autosomal dominant form. (ctgt.net)
  • Five were lethal, 6 were lethal only in synthetic medium 13 were temperature-sensitive lethal and 2 had no discernible phenotypic consequences. (genetics.org)
  • A synthetic lethal siRNA screen identifying genes mediating sensitivity to a PARP inhibitor. (sigmaaldrich.com)
  • To discover new determinants of sensitivity to these drugs, we performed a PARP-inhibitor synthetic lethal short interfering RNA (siRNA) screen. (sigmaaldrich.com)
  • These results highlight the potential of synthetic lethal siRNA screens with chemical inhibitors to define new determinants of sensitivity and potential therapeutic targets. (sigmaaldrich.com)
  • In a screen for mutants that display synthetic lethal interaction with hpr1 Δ, a hyperrecombination mutant of Saccharomyces cerevisiae , we have isolated a novel cold-sensitive allele of the acetyl coenzyme A (CoA) carboxylase gene, acc1 cs , encoding the rate-limiting enzyme of fatty acid synthesis. (asm.org)
  • A fourth synthetic lethal interaction has been found between hpr1 Δ and a mutant carrying a deletion of one copy of the histone H3-H4 genes ( 10 ). (asm.org)
  • To better understand the in vivo function of Hpr1p, a screen was initiated to isolate additional mutants that exhibit synthetic lethal interaction with hpr1 Δ. (asm.org)
  • 7] J. Vieira and J. Messing, "The pUC Plasmids, an M13mp7Derived System for Insertion Mutagenesis and Sequencing with Synthetic Universal Primers," Gene, Vol. 19, No. 3, 1982, pp. 259-268. (scirp.org)
  • By biasing the inheritance of particular altered genes, synthetic gene drives could spread alterations through a population. (wikipedia.org)
  • Platyspondylic Lethal Skeletal Dysplasia, Torrance Type, is also known as platyspondylic lethal skeletal dysplasia torrance type . (malacards.org)
  • An important gene associated with Platyspondylic Lethal Skeletal Dysplasia, Torrance Type is COL2A1 (Collagen Type II Alpha 1 Chain). (malacards.org)
  • 25 Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. (malacards.org)
  • 75 Platyspondylic lethal skeletal dysplasia Torrance type: Platyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous group of chondrodysplasias characterized by severe platyspondyly and limb shortening. (malacards.org)
  • Infants born with platyspondylic lethal skeletal dysplasia, Torrance type usually die at birth or shortly thereafter from respiratory failure. (medlineplus.gov)
  • These changes disrupt the normal development of bones and other connective tissues, leading to the skeletal abnormalities characteristic of platyspondylic lethal skeletal dysplasia, Torrance type. (medlineplus.gov)
  • Shift workers are more prone to cancer, and now a study in mice has found that changes to a gene that regulates the circadian clock seem to increase the likelihood of breast cancer spreading and becoming deadly. (newscientist.com)
  • Previous studies hinted that genetics might influence an individual's risk of a cancer spreading, so to try to identify specific genes involved, Hunter and his team interbred mice predisposed to develop a particularly aggressive form of metastatic breast cancer with those at low risk of metastasis. (newscientist.com)
  • The team then used gene-editing to alter its activity in cancer cells, and injected these into cancer-free mice. (newscientist.com)
  • Loss of a gene related to Arnt12 does seem to be associated with an increase in lung cancer , an effect that is enhanced when lung cancer mice are put on a sleep schedule resembling jet lag, says Chi Van Dang , director of the Abramson Cancer Centre in Pennsylvania. (newscientist.com)
  • Researchers report that they have identified a gene that causes melanoma in mice. (scientificamerican.com)
  • In 2004, Kawaoka and his team identified another key gene from the 1918 virus that enhanced the pathogen's virulence in mice. (infectioncontroltoday.com)
  • COLUMBUS, Ohio - Reversing a protein deficiency through gene therapy can correct motor function, restore nerve signals and improve survival in mice that serve as a model for the lethal childhood disorder spinal muscular atrophy , new research shows. (osu.edu)
  • Greater than 64% of the Pcca -/- mice were rescued after AAV8-mediated gene transfer and survived until day of life 16 or beyond. (elsevier.com)
  • Western analysis of liver extracts showed that PCC was completely absent from Pcca -/- mice but was restored to greater than wild-type levels after AAV gene therapy. (elsevier.com)
  • The treated Pcca -/- mice also exhibited markedly reduced plasma levels of 2-methylcitrate compared with the untreated Pcca -/- mice, which indicates significant PCC enzymatic activity was provided by gene transfer. (elsevier.com)
  • In summary, AAV gene delivery of PCCA effectively rescues Pcca -/- mice from neonatal lethality and substantially ameliorates metabolic markers of the disease. (elsevier.com)
  • To elucidate the regulation of obese (ob) gene expression in obesity and diabetes, we examined ob gene expression in KK mice and congenic lethal yellow obese KKA(y) mice. (elsevier.com)
  • Expression of the ob gene was augmented in the mesenteric and subcutaneous WAT but was unchanged in the epididymal WAT in KKA(y) mice at 12 wk of age, when KKA(y) mice developed marked obesity with hyperglycemia, hyperlipidemia, and hyperinsulinemia. (elsevier.com)
  • The ob gene expression was also examined during fasting in 12-wk-old KK and KKA(y) mice. (elsevier.com)
  • The present study demonstrates that adipose tissue expression of the ob gene is regulated depending on the nutritional status in KK and KKA(y) mice. (elsevier.com)
  • The current study was designed to test the hypothesis that prolonged treatment of aging LY mice with the TZD, pioglitazone, alters the ovarian expression of genes that may impact reproduction. (biomedcentral.com)
  • For most altered genes, pioglitazone changed levels of expression to those seen in untreated C57BL/6J(a/a) non-mutant lean mice. (biomedcentral.com)
  • Doing this pinpointed a circadian rhythm gene, Arntl2 , which codes for a protein that binds to and controls the activity of other genes within a cell. (newscientist.com)
  • The next step is to try to understand mechanistically how the protein functions and what other genes it works with. (rxpgnews.com)
  • Mutant calmodulin protein was detected at normal levels in extracts of most of the lethal mutant cells, suggesting that the deleterious phenotypes were due to loss of the calmodulin function and not protein instability. (genetics.org)
  • One exception, however, included a complex of three genes that, acting in concert with another key gene, allowed the virus to efficiently colonize lung cells and make RNA polymerase, a protein necessary for the virus to reproduce. (infectioncontroltoday.com)
  • That gene makes hemagglutinin, a protein found on the surface of the virus and that confers on viral particles the ability to attach to host cells. (infectioncontroltoday.com)
  • After all, there are 3 billion base pairs in the human DNA code and about 21,000 protein-coding genes that genomic researchers must sift through to find the error that causes a particular disease. (genome.gov)
  • This reduced protein in motor neurons specifically - rather than in other cells throughout the body that contain the protein - is caused by the absence of a single gene. (osu.edu)
  • In addition, a single gene therapy treatment appears to reverse the disease, as opposed to drug treatments under investigation that might elevate SMN protein levels but would require a lifetime of taking medication. (osu.edu)
  • This gene provides instructions for making a protein that forms type II collagen. (medlineplus.gov)
  • To determine whether these differences in whole-organism thermal tolerance were reflected in differences in either the sequence or regulation of the heat shock protein genes ( hsps ) we obtained complete cDNA sequences for hsc70 , hsp70-1 and hsp70-2 , and partial sequences of hsp90 α and hsp90 β. (biologists.org)
  • 12] D. F. Gruber, V. A. Pieribone, B. Porton and H. T. Kao, "Strict Regulation of Gene Expression from a High-Copy Plasmid Utilizing a Dual Vector System," Protein Expression and Purification, Vol. 60, No. 1, 2008, pp. 53-57. (scirp.org)
  • We have previously shown through trans processing assays that the I7L gene product is capable of cleaving the core protein precursors p4a, p4b, and p25K at conserved AG/X sites and have used reverse genetics to identify active site residues [ 3 , 4 ]. (biomedcentral.com)
  • The ALK gene codes for a protein which, when mutated, has the potential to cause certain types of cancer. (brighthub.com)
  • The protein encoded by the MTP gene is involved in the assembly of lipoproteins. (brighthub.com)
  • LeTx, the major virulence factor contributing to anthrax, contains the effector moiety lethal factor (LF), a zinc-dependent metalloprotease specific for targeting mitogen-activated protein kinase kinases. (mdpi.com)
  • The gl gene is predicted to encode a 338-amino acid type I transmembrane protein that localizes to the intracellular compartment. (biomedsearch.com)
  • Variation in the susceptibility to the lethal effects of Alzheimer's Amyloid Precursor Protein (APP) transgene exists among various mouse strains. (carroll.edu)
  • These HOX genes were also associated with depletion of particular histone protein changes that normally caused gene repression. (atlasofscience.org)
  • Notably, lethality is prevented and control of cytopathogenic infection is restored when viral antigen presentation is enhanced by deletion of immune evasion genes from the infecting virus. (frontiersin.org)
  • RePub, Erasmus University Repository: Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an α1(I)-like collagen. (eur.nl)
  • Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an α1(I)-like collagen. (eur.nl)
  • By means of recombinant DNA technology a 300 base pair deletion in an alpha 1(I)-like collagen gene was detected in six patients and four complete parent-child groups including patients with this disease. (eur.nl)
  • We find that OGT mutagenesis requires a strategy that retains an intact OGT gene as accomplished by using Cre-loxP recombination, because a deletion in the OGT gene results in loss of embryonic stem cell viability. (pnas.org)
  • Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated. (ctgt.net)
  • LWO in its homozygous form (two copies of the gene-one from each parent) produces an all white foal that always dies (Lethal White. (angelfire.com)
  • Human Gene Therapy presents reports on the transfer and expression of genes in mammals, including humans. (eurekalert.org)
  • a gene that under certain conditions causes the death of an organism. (thefreedictionary.com)
  • In reverse genetics, in contrast, researchers knock down/out a known gene and watch what effect it has on an organism. (rxpgnews.com)
  • lethal gene one whose presence brings about the death of the organism or permits survival only under certain conditions. (thefreedictionary.com)
  • As a result, the gene drive insertion in the genome will re-occur in each organism that inherits one copy of the modification and one copy of the wild-type gene. (wikipedia.org)
  • A case in point is the mouse sodium channel modifier 1 (SCNM1), a gene that can turn a chronic disorder into a lethal disease. (alzforum.org)
  • and University of Trieste (Trieste, Italy) and Charles University (Prague, Czech Republic), present details of the adeno-associated virus (AAV)-mediated gene therapy approach they used to correct the metabolic disorder that causes hyperbilirubinemia in CNS1. (eurekalert.org)
  • A team of clinical and bench researchers, including colleagues at the Johns Hopkins University and Children's National Medical Center, used next generation genomic sequencing, in addition to classic biology, to find a variant in a gene that causes a devastating and rare disorder in newborns. (genome.gov)
  • The PIGA gene is familiar to many who have studied medicine or genetics because of its association with a rare mosaic blood disorder known as paroxysmal nocturnal hemoglobinuria (PNH), according to Dr. Biesecker. (genome.gov)
  • which means one copy of the altered gene in each cell is sufficient to cause the disorder. (medlineplus.gov)
  • These experiments demonstrate a gene transfer approach using AAV8 that might be used as a treatment for PA, a devastating and often lethal disorder desperately in need of new therapeutic options. (elsevier.com)
  • Harlequin ichthyosis is an inherited skin disorder that is often lethal and always very debilitating. (brighthub.com)
  • A major international study has for the first time identified eight genes associated with an increased risk of developing the eating disorder anorexia nervosa. (abc.net.au)
  • 11] S. A. Yazynin, S. M. Deyev, M. Jucovic and R. W. Hartley, "A Plasmid Vector with Positive Selection and Directional Cloning Based on a Conditionally Lethal Gene," Gene, Vol. 169, No. 1, 1996, pp. 131-132. (scirp.org)
  • 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85166Disease definitionPlatyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. (malacards.org)
  • In those diseases, individual genes increase a person's risk by 10 to 25 percent, whereas the KITLG gene is associated with a 300 percent increase in risk for testicular cancer. (news-medical.net)
  • Persistent measles viruses (MVs) causing lethal human brain diseases are defective, and the structure of several mutated matrix genes has been elucidated previously. (elsevier.com)
  • Research published in Science Translational Medicine s hows promise for developing new therapies for treating lethal lung diseases. (chop.edu)
  • The Arabidopsis genome comprises ≈120 Mb of DNA that encodes roughly 20,000 genes. (pnas.org)
  • The maize genome is a segmental allotetraploid, so all unique genes have been duplicated at some time in the distant past ( 14 ). (pnas.org)
  • A group of Dutch researchers compared deep sequencing-based gene-expression analysis using the Illumina whole genome sequencer to five microarray-based platforms. (news-medical.net)
  • A single copy of the OGT gene is present in the male genome and resides on the X chromosome near the centromere in region D in the mouse spanning markers DxMit41 and DxMit95 , and in humans at Xq13, a region associated with neurologic disease. (pnas.org)
  • Combined transcription and genome data from multiple tissues in hundreds of human donors reveal links between genotype and gene expression across the body. (the-scientist.com)
  • For several decades, it has been possible to insert genes into plants, using genome engineering methods. (mpg.de)
  • A disadvantage of these techniques is that it cannot be controlled where exactly in the genome the new genes get inserted. (mpg.de)
  • Using genome engineering methods one can also precisely replace genes of one species with genes of other varieties or close relatives - which is one goal of conventional breeding as well. (mpg.de)
  • acts as a translational repressor for male-specific lethal-2 (MSL-2) and prevents male-less (MLE), MSL-1 and MSL-3 proteins from associating with the female X chromosome. (uniprot.org)
  • Two brothers inherited a faulty version of the gene on the X chromosome that makes a molecule called phosphatidylinositol glycan class A, or PIGA. (genome.gov)
  • holandric g's genes located on the Y chromosome and appearing only in male offspring. (thefreedictionary.com)
  • Meiotic breakpoint analysis (concordance analysis) based on shared regions of the founder X chromosome was successful in localizing the X-linked arthrogryposis gene to Xp11.3-q11.2. (elsevier.com)
  • At the molecular level, an endonuclease gene drive works by cutting a chromosome at a specific site that does not encode the drive, inducing the cell to repair the damage by copying the drive sequence onto the damaged chromosome. (wikipedia.org)
  • We can try to find associated genes, proteins and other partners that are involved in this complex, as well as some of the mechanisms involved. (rxpgnews.com)
  • But one did infect the lungs, and it carried the RNA polymerase genes from the 1918 virus that allowed the virus to make the key step of synthesizing its proteins. (infectioncontroltoday.com)
  • He nd his colleagues suspected that glioblastomas might be addicted to proteins produced by gene fusions. (tbilaw.com)
  • For example, the genes control the synthesis of structural proteins and also the enzymes that regulate various chemical reactions that take place in a cell. (thefreedictionary.com)
  • This "O-GlcNAcylation" of intracellular proteins can occur on phosphorylation sites, and has been implicated in controlling gene transcription, neurofilament assembly, and the emergence of diabetes and neurologic disease. (pnas.org)
  • Following this seminal discovery by Smith and Keppie, it has been determined that anthrax toxin is composed of three proteins that when combined in pairwise fashion form two binary toxins: protective antigen (PA), edema factor (EF), and lethal factor (LF) [ 2 ]. (mdpi.com)
  • This lethality is suppressed by the expression of SMR1 , confirming that SMR1 operates downstream of the other mat genes. (genetics.org)
  • Essential genes represent critical cellular components whose disruption results in lethality. (plantcell.org)
  • hpr1 Δ was also synthetically lethal with a previously isolated, temperature-sensitive allele of ACC1 , mtr7 (mRNA transport), indicating that the lethality of the acc1 cs hpr1 Δ double mutant was not allele specific. (asm.org)
  • In this study, we conducted biochemical measurements (RT-qPCR of select genes and targeted, quantitative metabolomic profiling) on N. triangulifer mature larvae reared at temperatures associated with excellent survival and fitness (22-24°C), compromised survival and fitness (28°C), and chronic lethality (30°C -larvae survived for a few weeks but failed to emerge to adulthood). (stroudcenter.org)
  • Lethal doses of dietary AgNPs caused developmental delays and profound lethality in developing animals and young adults. (nature.com)
  • The results show that wg is involved in the development of the adult, as well as the embryo, but that the imaginal discs do not express this segment-polarity gene in an identical pattern to the embryonic segments. (biologists.org)
  • Insertional mutagenesis in zebrafish identifies two novel genes, pescadillo and dead eye, essential for embryonic development. (semanticscholar.org)
  • To study OGT function in vivo , we have used gene-targeting approaches in male embryonic stem cells. (pnas.org)
  • These studies illustrate the necessity of conditional gene-targeting approaches in the mutagenesis and study of essential sex-linked genes, and indicate that OGT participation in intracellular glycosylation is essential for embryonic stem cell viability and for mouse ontogeny. (pnas.org)
  • DNA methylation differences between age-associated subgroups were particularly pronounced in known "tumor suppressor" genes and in HOX genes, which are important regulators of embryonic development. (atlasofscience.org)
  • Although each gene plays a specific role in the cell, sometimes errors in the DNA cause two ordinary genes to fuse into a single entity, with novel characteristics that can lead to a tumor," said co-senior author Raul Rabadan, assistant professor in the department of Biomedical Informatics and the Center for Computational Biology and Bioinformatics, Columbia Initiative in Systems Biology. (tbilaw.com)
  • Gene expression profiling was performed on tumor (n = 402) and adjacent normal (n = 200) prostate tissue from participants in 2 prospective cohorts who had been diagnosed with prostate cancer from 1982 to 2005. (urotoday.com)
  • Some gene expression tests improve upon clinical factors for prediction of outcomes, but additional tools for accurate prediction of tumor aggressiveness are needed.Methods: Based on a previously published panel of 23 gene transcripts that distinguished patients with metastatic progression, we constructed a prediction model using independent training and testing datasets. (edu.au)
  • In this project, we want to identify and clone the genes responsible for resistance against Tumor Necrosis Factor (TNF)-induced lethal inflammation. (ugent.be)
  • Transposon and T-DNA [portion of the Ti (tumor-inducing) plasmid that is transferred to plant cells] insertions offer the additional advantage of tagging the target gene molecularly and in many cases genetically via reporter and selectable marker genes carried by the insertion ( 6 - 10 ). (pnas.org)
  • In an exploratory analysis, age-adjusted gene set enrichment analysis identified statin-associated pathways enriched in tumor and adjacent normal prostate tissue. (aacrjournals.org)
  • Prior to EF or LF translocation to the cytosol, PA must first bind to one of two identified cell surface anthrax toxin receptors, tumor endothelial marker-8 (TEM8) and capillary morphogenesis gene-2 (CMG2)[ 6 , 7 ]. (mdpi.com)
  • Now that we know something about the genetics, we hope to now build a better model of who is at risk by looking at gene-environment interactions. (news-medical.net)
  • Affected individuals exhibited a lethal microcephaly syndrome linked to inadequate uptake of LPC lipids. (nature.com)
  • The multiple pterygium syndrome, lethal type NGS panel consists of three genes: CHRNA1, CHRND and CHRNG. (ctgt.net)
  • Copy number variation (CNV) analysis of the multiple pterygium syndrome, lethal type genes is also offered as a panel. (ctgt.net)
  • Unlike some coat color dilution lethals, which may result in premature births, stillborn, or weak foals, foals born with lethal white syndrome appear to be fully formed and normal. (wikipedia.org)
  • The painful and inevitable death that follows usually prompts veterinarians and owners to euthanize foals suspected of having lethal white syndrome. (wikipedia.org)
  • Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses. (biomedsearch.com)
  • Overo lethal white syndrome (OLWS) is an inherited syndrome of foals born to American Paint Horse parents of the overo coat-pattern lineage. (biomedsearch.com)
  • UC Davis has identified the ONE and ONLY gene responsible for producing the lethal white syndrome. (angelfire.com)
  • Orpha Number: 1842 Definition Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. (malacards.org)
  • CNS1 is an outstanding model for in vivo gene therapy with easily measured and clinically relevant metabolic endpoints," says James M. Wilson, MD, PhD, Editor-in-Chief of Human Gene Therapy , and Director of the Gene Therapy Program, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia. (eurekalert.org)
  • CNS1 is an outstanding model for in vivo gene therapy with easily mea. (bio-medicine.org)
  • Adenovirus-Mediated Transfer of a Rcombinant .alpha.1-Antitrypsin Gene to the Lung Epithelium in Vivo," Science 252: 431-434, 1991. (patentgenius.com)
  • To determine the role that the I7L proteinase plays in the VV replication cycle, we report here the construction and in vivo analysis of a VV mutant in which the expression of the I7L gene can be conditionally regulated. (biomedcentral.com)
  • While Dr. Ho, assistant professor of biochemistry and molecular biology at Jefferson Medical College of Thomas Jefferson University and Jefferson s Kimmel Cancer Center in Philadelphia, and former Jefferson colleague Steven Farber, Ph.D., and Michael Pack, Ph.D., reported the findings in Science in 2001, one huge obstacle remained: identifying a gene behind the condition. (rxpgnews.com)
  • One treatment of gene therapy gave these dogs a remarkable improvement in their quality of life," said Beverly L. Davidson, PhD, director of the Raymond G. Perelman Center for Cellular and Molecular Therapeutics at The Children's Hospital of Philadelphia . (chop.edu)
  • Cloning of the Complete Gene for Carcinoembryonic Antigen: Analysis of Its Promotor Indicates a Region Conveying Cell Type-Specific Expression," Molecular and Cellular Biology 10(6): 2738-2748, 1990. (patentgenius.com)
  • In light of the advances in molecular and cellular biology since then, a succinct modern view of the question states: how do genes encode geometry? (biologists.org)
  • Essential genes in A. thaliana are often single copy or derived from older duplications, highly and broadly expressed, slow evolving, and highly connected within molecular networks compared with genes with nonlethal mutant phenotypes. (plantcell.org)
  • We prospectively examined statins and lethal prostate cancer risk in the Health Professionals Follow-up Study (HPFS), tested associations with molecular subtypes, and integrated gene expression profiling to identify putative mechanisms. (aacrjournals.org)
  • An understanding of the biology underlying this lethal subset of prostate cancer is urgently needed, to identify an objective molecular signature and specific treatments that improve the outcome of afflicted men. (aacrjournals.org)
  • and ( 3 ) its lethal interaction with the specific molecular target in the cell. (springer.com)
  • This gene encodes a small GTPase, a member of the rab family involved with secretion, acting in the vesicular trafficking between endoplasmatic reticulum and the Golgi. (bireme.br)
  • The acetyl-CoA carboxylase gene, ACC1 , encodes a biotin-containing enzyme that synthesizes malonyl-CoA from acetyl-CoA and bicarbonate, with the hydrolysis of ATP ( 4 ). (asm.org)
  • New Rochelle NY October 9 2014-Excessive and often lethal blo. (bio-medicine.org)
  • Two strategies for using transposons to assess gene function are outlined here: First, the PCR can be used to identify plants that carry insertions into specific genes from among pools of heavily mutagenized individuals (site-selected transposon mutagenesis). (pnas.org)
  • The problem has been - do we know what the specific genes are … and that's what's taken us so long. (abc.net.au)
  • Prediction models from A. thaliana could also be applied to predict Oryza sativa and Saccharomyces cerevisiae essential genes. (plantcell.org)
  • A murine model of PA (Pcca -/- ) of animals that uniformly die within the first 48hr of life was used to determine the efficacy of adeno-associated viral (AAV) gene transfer as a potential therapy for PA. (elsevier.com)
  • We also demonstrate that expression of the I7L gene from its native promoter appears to be important for optimal viral assembly and replication. (biomedcentral.com)
  • To investigate the role of the I7L proteinase in the viral life cycle, an inducible mutant virus was constructed in which the expression of the I7L gene could be regulated by the presence or absence of TET using the components of the bacterial tetracycline operon [ 6 , 7 ]. (biomedcentral.com)
  • This conditional-lethal expression system has recently been used to show that the enzymatic activity of the VV G1L metalloproteinase is essential for viral replication [ 9 ]. (biomedcentral.com)
  • To confirm that expression of the I7L gene was essential for viral replication, TREx-293 cells were infected with vtetOI7L at a multiplicity of infection (MOI) of 0.1, 0.5, 5, or 10 in the presence or absence of TET, harvested 24 h later, and the titer of the virus infected cell lysates determined on BSC 40 cells. (biomedcentral.com)
  • To further explore the link between IFN-I induced by viral pathways and autoimmunity, we generated a new transgenic mouse line containing multiple copies of Ifih1 , a gene encoding the cytoplasmic dsRNA sensor MDA5 with proven linkage to diabetes and lupus. (jimmunol.org)
  • We show that MDA5 overexpression led to a chronic IFN-I state characterized by resistance to a lethal viral infection through rapid clearance of virus in the absence of a CD8 + or Ab response. (jimmunol.org)
  • These viral gene drives can propagate a modification into the population of viruses, and aim to reduce the infectivity of the virus. (wikipedia.org)
  • A lethal white overo foal lacks black pigment in the skin. (angelfire.com)
  • The gene responsible for the lethal white foals has been named "Lethal White Overo" (LWO). (angelfire.com)
  • 10] P. Kast, "pKSS-A Second-Generation General Purpose Cloning Vector for Efficient Positive Selection of Recombinant Clones," Gene, Vol. 138, No. 1-2, 1994, 109-114. (scirp.org)
  • A conditional-lethal recombinant virus was constructed in which the expression of the vaccinia virus I7L gene is under the control of the tetracycline operator/repressor system. (biomedcentral.com)
  • A commercially available cell line, T-Rex-293 (Invitrogen), expressing the TetR was used to regulate the expression of the I7L gene from the infecting recombinant virus. (biomedcentral.com)
  • Results: A recombinant adenovirus that carries a lethal gene, PUMA, under the control of a Ras responsive promoter (Ad-Py4-SV40-PUMA) was used selectively to target CRC cells (HCT116, SW480, DLD1 and RIE-Ras) that possess a hyperactive Ras pathway while using HT29 and RIE cells as a control that harbors wild type Ras and exhibit very low Ras activity. (osti.gov)
  • This screen yielded a novel cold-sensitive allele of the acetyl coenzyme A (CoA) carboxylase gene, acc1-200 cs , hereafter referred to as acc1 cs ( 14 ). (asm.org)
  • allelic gene allele . (thefreedictionary.com)
  • Whether a gene drive will ultimately become fixed in a population and at which speed depends on its effect on individual fitness, on the rate of allele conversion, and on the population structure. (wikipedia.org)
  • By mixing and matching a contemporary flu virus with the "Spanish flu" - a virus that killed between 20 and 50 million people 90 years ago in history's most devastating outbreak of infectious disease - researchers have identified a set of three genes that helped underpin the extraordinary virulence of the 1918 virus. (infectioncontroltoday.com)
  • Researchers have taken a significant step forward in developing gene therapy against a fatal neurodegenerative disease that strikes children. (chop.edu)
  • Researchers at the University of Pennsylvania School of Medicine have uncovered variation around two genes that are associated with an increased risk of testicular cancer. (news-medical.net)
  • While researchers suspect environmental exposures may play a part in the growing incidence, they now know that an individual's genes also play a major role in disease susceptibility. (news-medical.net)
  • Thus, the ability to effectively prioritize gene selection by predicting mutant phenotypes would represent an important step toward streamlining intensive and costly phenotypic analysis in plants. (plantcell.org)
  • It is associated with horses that carry the overo paint gene. (angelfire.com)
  • Overo is much more complex genetically than the tobiano coloring gene. (angelfire.com)
  • There are many different genes that can combine to produce an overo foal. (angelfire.com)
  • Just ONE of these overo genes is responsible for lethal whites. (angelfire.com)
  • The spotting pattern in horses with the LWO gene generally corresponds to the frame overo pattern, with white markings on the head and sides of the body, not necessarily on the legs, the belly or the dorsal midline. (angelfire.com)
  • It is linked to a gene that CAN cause an overo spotting pattern in a horse that would have otherwise been solid colored, but does not always do so. (angelfire.com)
  • Overo is so complex genetically, that no one is exactly sure why the gene does not consistently produce spots. (angelfire.com)
  • Physical mapping and systematic sequencing have revealed that most genes reside in ≈105 Mb of "euchromatic" DNA, with ≈15 Mb of highly repeated sequences comprising centromeric satellite, nucleolar organizers, and other highly reiterated regions ( 1 ). (pnas.org)
  • The scientists predict that with the continuously increasing number of reads at reduced costs, RNASeq, a.k.a. whole transcriptome shotgun sequencing, will become affordable for standard differential gene-expression analysis. (news-medical.net)
  • This study examined gene expression profiles of prostate tissue to identify biological processes differentially expressed by obesity status and lethal prostate cancer. (urotoday.com)
  • Men were followed for metastases or prostate cancer-specific death (lethal disease) through 2011. (urotoday.com)
  • Odds ratios (ORs) for lethal prostate cancer were estimated with logistic regression. (urotoday.com)
  • pAUC = 0.002), and it improved risk stratification in subgroups defined by a combination of clinicopathological features (ie, Cancer of the Prostate Risk Assessment-Surgery).Conclusion: Our validated 4GT score has prognostic value for metastatic-lethal progression in men treated for localized PCa and warrants further evaluation for its clinical utility. (edu.au)
  • Statins are associated with lower risk of aggressive prostate cancer, but lethal prostate cancer is understudied and contributing mechanisms are unclear. (aacrjournals.org)
  • During 24 years of follow-up, 6,305 prostate cancers were diagnosed and 801 (13%) were lethal (metastatic at diagnosis or metastatic/fatal during follow-up). (aacrjournals.org)
  • Small-cell prostate carcinoma (SCPC) is a lethal variant of prostate cancer. (aacrjournals.org)
  • We characterized unique human prostate cancer xenografts from patients with advanced castration-resistant prostate carcinomas (CRPC) and found significant upregulation of mitotic phase genes, including UBE2C (an anaphase promoting complex-specific E2 conjugating enzyme), and loss of retinoblastoma, cyclin D1, and androgen receptor expression in the SCPC xenografts when compared with xenografts with conventional adenocarcinoma morphology. (aacrjournals.org)
  • Most gene drives have been developed in insects, notably mosquitoes, as a way to control insect-borne pathogens. (wikipedia.org)
  • TZD are ligands for the peroxisome proliferator-activated receptor γ (PPARγ), which enhances transcription of a variety of genes that collectively promote glucose disposal. (biomedcentral.com)
  • These gene features allowed the application of machine learning methods that predicted known lethal genes as well as an additional 1970 likely essential genes without documented phenotypes. (plantcell.org)
  • Our findings show that essential genes can be distinguished from genes with nonlethal phenotypes using features that are similar across kingdoms and indicate the possibility for translational application of our approach to species without extensive functional genomic and phenomic resources. (plantcell.org)
  • Important to note, essential genes cannot be down-regulated in this way because suppression would lead to dominant lethal phenotypes that cannot be maintained. (pnas.org)
  • This can lead to loss-of-function, and occasionally gain-of-function, phenotypes that reflect the function of the target gene in its normal chromosomal context. (pnas.org)
  • Minor-HAg mismatch is found to promote lethal CMV disease in absence of a detectable GvH response to an immunodominant minor-HAg, the H60 locus-encoded antigenic peptide LYL8. (frontiersin.org)
  • Gene Ontology biological processes differentially expressed by BMI were identified using gene set enrichment analysis. (urotoday.com)
  • Dysregulated neural crest development in MRTs was further suggested by differentially expressed genes that regulated neural crest development stages. (atlasofscience.org)
  • Additional development-regulating processes (such as WNT- and BMP-signaling pathways) and cancer-related processes (such as cell invasion and migration) also included differentially expressed genes in MRTs compared to normal cells. (atlasofscience.org)
  • Genomic DNA sequence of Rhesus (M. mulatta) cystic fibrosis (CFTR) gene. (biomedsearch.com)
  • complementary g's two independent pairs of nonallelic genes, neither of which will produce its effect in the absence of the other. (thefreedictionary.com)
  • Our findings suggest that the severity of disease in 1918 virus-infected macaques is a consequence of the early up-regulation of cell death and inflammatory related genes, in which additive or synergistic effects likely dictate the severity of tissue damage. (nih.gov)
  • Hormonal Regulation of Chimeric Genes Containing the Phosphoenolpyruvate Carboxykinase Promoter Regulatory Region in Hepatoma Cells Infected by Murine Retroviruses," Journal of Biological Chemistry 263(33): 17798-17808, 1988. (patentgenius.com)
  • Expression of the ACC1 gene is under coordinate transcriptional regulation by the phospholipid precursors inositol and choline ( 15 ). (asm.org)
  • The gene encoding OGT has been isolated recently from Caenorhabditis elegans , rat, and human genomes ( 23 , 24 ) and is highly conserved among these organisms, sharing over 65% amino acid identity. (pnas.org)
  • Additionally, primers for genes associated with energy: INSULIN RECEPTOR (IR), mechanistic TARGET OF RAPAMYCIN (mTOR) and TREHALOSE 6 PHOSPHATE SYNTHASE (T6PS) were developed for this study. (stroudcenter.org)
  • Additionally, men with two copies of the common version of variants next to another gene, sprouty 4 (SPRY4), have a 1.48-fold higher risk than men with two copies of the less common version of the gene. (news-medical.net)
  • Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. (ctgt.net)
  • A few lethal white foals have been shown to be deaf. (wikipedia.org)
  • Mitochondrial DNA is normally inherited from only one parent but the team show that this particular strain of fungus can get mitochondrial genes from both parents. (healthcanal.com)
  • a href='/help/gene_ontology' target='_top'>More. (uniprot.org)
  • In the present work, we use phylogenetic analysis and database manipulation (BioGRID for interactions, Ensembl and NCBI for homology, Gene Ontology for GO attributes) in order to reconstruct the phylogenetically-inferred SL gene network for human. (biomedcentral.com)
  • Several common single-gene alterations have been observed in glioblastomas. (tbilaw.com)
  • Inhibitors of poly (ADP-ribose)-polymerase-1 (PARP) are highly lethal to cells with deficiencies in BRCA1, BRCA2 or other components of the homologous recombination pathway. (sigmaaldrich.com)
  • Human Gene Therapy , the Official Journal of the European Society of Gene and Cell Therapy, British Society for Gene and Cell Therapy, French Society of Cell and Gene Therapy, German. (eurekalert.org)
  • A new gene therapy approach to correcting this metabolic error achieved significant, long-lasting reductions in bilirubin levels in a mouse model of CNS1 and is described in an Open Access article in Human Gene Therapy , a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. (eurekalert.org)
  • Human Gene Therapy , the Official Journal of the European Society of Gene and Cell Therapy, British Society for Gene and Cell Therapy, French Society of Cell and Gene Therapy, German Society of Gene Therapy, and five other gene therapy societies, is an authoritative peer-reviewed journal published monthly in print and online. (eurekalert.org)
  • Its sister journals, Human Gene Therapy Methods, published bimonthly, focuses on the application of gene therapy to product testing and development, and Human Gene Therapy Clinical Development, published quarterly, features data relevant to the regulatory review and commercial development of cell and gene therapy products. (eurekalert.org)
  • If this gene therapy approach can achieve comparable results in children, said Davidson, it would greatly improve their quality of life. (chop.edu)
  • But we may be able to discover a number of other gene fusions, each accounting for a small percentage of tumors, and each with its own specific therapy. (tbilaw.com)
  • The article is available on the Human Gene Therapy website at http://online.liebertpub.com/doi/full/10.1089/hum.2013.233 . (bio-medicine.org)
  • Our findings provide the first definitive evidence that gene therapy may have clinical utility in the treatment of Menkes disease. (uzh.ch)
  • The detection of SL gene pairs constitutes a promising alternative for anti-cancer therapy. (biomedcentral.com)
  • In addition, available data on cancer mutated genes (COSMIC and Cancer Gene Census databases) as well as on existent approved drugs (DrugBank database) supports our selection of cancer-therapy candidates. (biomedcentral.com)
  • Under this perspective, targeting essential genes in anti-cancer therapy could kill malignant cells, but might result to be lethal for healthy cells too. (biomedcentral.com)
  • Despite optimal dietary and cofactor therapy, PA patients still suffer from lethal metabolic instability and experience multisystemic complications. (elsevier.com)
  • Human Gene Therapy , 22 (4), 477-481. (elsevier.com)
  • Spark Therapeutics's Luxturna would be the first approved therapy in the U.S. that replaces or repairs a defective gene inherited from one's parents. (the-scientist.com)
  • Control vector, without the Ras responsive promoter elements was used to assess the specificity of our 'gene therapy' approach. (osti.gov)
  • Intragenic cis-acting art gene-responsive sequences of the human immunodeficiency virus," Proc. (patentgenius.com)
  • In an effort to obtain information associated with reproduction in P. vannamei, transcriptomic data from female gonads was generated, and partial sequences of a transcript were identified as Sex-lethal (Sxl). (deepdyve.com)
  • The tree was constructed from a codon-based alignment (6,234 positions) of the new chimpanzee-derived sequence identified in the Kanyawara chimpanzee community, Uganda, 2013 (indicated by the asterisk and chimpanzee silhouette), and all human-derived RV-C complete polyprotein gene sequences available in GenBank as of December 18, 2016, with rhinoviruses A and B from the RefSeq database included as outgroups. (cdc.gov)
  • additional sequences can be introduced in the gene drive to encode new functions. (wikipedia.org)
  • Cadherin-related family member 3, a childhood asthma susceptibility gene product, mediates rhinovirus C binding and replication. (cdc.gov)
  • The goal of this study was to establish a linkage to genes affecting susceptibility to the APP transgene. (carroll.edu)
  • By engineering transposons to carry reporter genes and regulatory signals, the expression of target genes can be monitored and to some extent manipulated. (pnas.org)
  • For instance, patients with systemic lupus erythematosus (SLE) display elevated levels of transcripts for IFN-I target genes in their circulation ( 7 ). (jimmunol.org)
  • To prove this point further, let's look at what these two different genes do to a horse in their single and double forms. (angelfire.com)
  • We report here the isolation of numerous conditional-lethal mutants that were recovered by systematically altering phenylalanine residues. (genetics.org)
  • Its characterization indicated that, differently from other penaeids in which this gene has been isolated, there are six isoforms of the Sxl transcript in P. vannamei (PvanSxl 1-6). (deepdyve.com)