Humans mutants gene deletion. Medical search. Frequent questions

HPS-2 is caused by a mutation in the gene encoding the beta-3A subunit of the heterotetrameric AP3 complex (ADTB3A), which resides on chromosome 5. (medscape.com)
Second, there would have to be a mutation or deletion in this gene that already exists. (grantome.com)
In addition to these genes, we have begun to characterize the germline defects of a deletion mutation in the lpd-8 ortholog of C. elegans;this is a gene that, when mutated, causes Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1). (grantome.com)
We are currently using the CRISPR technology to introduce the orthologous mutation into C. elegans to mimic the mutations found in humans. (grantome.com)
A point mutation in the gene for TH has been shown to result in autosomal-recessive DRD. (medscape.com)
This mutation, at the Gln 381 Lys locus in the tyrosine gene, results in TH activity that is only 15% of normal,[7] with a resultant decrease in dopamine production. (medscape.com)
Many cases of GCH1 gene mutation negative have been discovered to harbor exon deletions in the GCH gene. (medscape.com)
Point mutation in the gene for SR has been detected in patients who have autosomal-recessive DRD. (medscape.com)
X-CGD is caused by a mutation in the CYBB gene which encodes a critical component (gp91-phox) of NADPH oxidase, a key enzyme for the anti-microbial activity of phagocytes. (maxcyte.com)
Mutation of this gene results in neuropathy and optic atrophy. (nih.gov)
Mutation of the X-linked oral-facial-digital syndrome type 1 (OFD1) gene is embryonic lethal in males and results in craniofacial malformations and adult onset polycystic kidney disease in females. (liveconscience.com)
A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report. (lu.se)
Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry. (lu.se)
To explore a mechanistic link between SH2B3 and hypertension, we targeted the SH2B3 gene for mutation on the Dahl salt-sensitive (SS) rat genetic background with zinc-finger nucleases. (mcw.edu)
The resulting mutation was a 6-bp, in-frame deletion within a highly conserved region of the Src homology 2 (SH2) domain of SH2B3. (mcw.edu)
SUMMARY A direct correlation between HIV infection and mutation in the chemokine receptor ( CCR5 ) gene has been established. (who.int)
HIV-1 is influenced by a mutation in the 1 infection with a typical delay of 2-4 years chemokine receptor ( CCR5 ) gene [ 3,4 ]. (who.int)
Lowe syndrome is caused by an inherited mutation in the OCRL gene, mapped to chromosome Xq 26.1, which encodes the OCRL1 protein. (medscape.com)
This disease, previously referred to as MCKD type 1, is due to a mutation in the variable-number tandem repeat region of the MUC1 (Mucin 1) gene. (medscape.com)

The finding that yeast Rab GAPs share homology with proteins in other species, such as Caenorhabditis elegans and human, suggests the existence of a conserved Rab GAP family. (embl.de)
The impaired function of specific organelles indicates that the causative genes encode proteins operative in the formation of lysosomes and vesicles. (medscape.com)
In the absence of effective gene therapy or stem cell therapy, drugs that target specific proteins may be beneficial to patients with such diseases. (grantome.com)
Open up in another window Physique 1 Phylogenetic romantic relationship of BIIE 0246 supplier human being SLC26 polypeptides generated with Jalview (http://www.jalview.org) using NCBI proteins sequences listed in Desk 1. (exposed-skin-care.net)
Built YchM deletion exhibited artificial lethality with multiple fatty acidity biosynthesis genes, as well as the YchM polypeptide bodily interacted numerous proteins from the fatty acidity biosynthetic pathway. (exposed-skin-care.net)
Collectively, these data demonstrate the need to characterize the functional interactions and molecular assemblies of complexes comprised of signaling receptors, domain-organizing proteins, and ciliary proteins, which when mutant, cause comparable disease phenotypes. (liveconscience.com)
We built and tested a detailed logical model (involving genes, proteins and metabolites) of the aromatic amino acid synthesis pathway. (aber.ac.uk)
Simultaneous deletion of the two genes encoding these proteins in the intestinal epithelium of mice induces rapidly growing adenomas containing high numbers of Paneth and LGR5+ stem cells. (knaw.nl)
Both genes are highly conserved, and their proteins are thought to have 2 functions: (1) formation of a bridge or scaffold between the DNA-binding transcription factors and the RNA polymerase II complex and (2) serving as histone acetyltransferases that open the chromatin structure, a process essential for gene expression. (medscape.com)

5] Syrzycka et al[6] demonstrated that the pink gene encodes the Drosophila ortholog of the human HPS5 gene. (medscape.com)
The phylogenetically ancient SLC26 gene family encodes multifunctional anion exchangers and anion channels transporting a wide selection of substrates, including Cl? (exposed-skin-care.net)
This gene encodes a mitochondrial solute carrier protein family member. (nih.gov)
The EP300 gene on band 22q13 encodes a protein, p300, that is highly similar to CREBBP. (medscape.com)

Some genes responsible for sensorineural hearing impairment have been cloned during the last several years, and the underlying mechanisms causing hearing impairment have begun to be clarified with the advent of recent developments in molecular genetics. (nih.gov)
His joint discovery of messenger RNA, and, in more recent years, his development of gene cloning, sequencing and manipulation techniques along with his work for the Human Genome Project have led to his standing as a pioneer in the field of genetics and molecular biology. (webofstories.com)
This enables us to identify candidate genes underlying glucosinolate diversity, trichome density, and study the genetics of biochemical variation for glucosinolate and saponins. (pacb.com)

12 Similar to patients, the dystrophin mutant mdx mice do not express dystrophin 13 and have been widely used as a model system to study DMD and to make important advances in understanding therapeutic strategies as well as the molecular processes and underlying causes of the disease. (nature.com)
Perfusion fixed brains from shiverer mutant (C3Fe.SWV Mbp^(shi)/Mbp^(shi)n = 6) and background control (C3HeB.FeJ, n = 6) mice were compared using contrast enhanced volumetric diffusion tensor magnetic resonance microscopy with a nominal isotropic spatial resolution of 80 mum. (caltech.edu)
Deletion of the Ofd1 gene (Ofd14-5/+-) in mice causes missing/supernumerary teeth, enamel hypoplasia, and polycystic kidney disease analogous to human oral-facial-digital syndrome type 1 [4]. (liveconscience.com)
ANGPT2 has previously been shown to influence lymphatic development in mice, but this is the first time when mutations in this gene were found to cause lymphedema in humans," noted Alitalo. (genengnews.com)
Many of these tissues and organs are known to be affected in mutant mice lacking CBP and in patients with Rubinstein-Taybi syndrome. (medscape.com)
Relevant of mutagenicity and clastogenici- angiosarcomas of the liver, which carcinogens discussed in this chap- ty, including the induction of sister are rare tumours, were identified in ter do not include pharmaceutical chromatid exchange (SCE), chro- humans, rats, and mice exposed to drugs classified in Group 1, which mosomal aberrations (CA), and mi- vinyl chloride. (who.int)
or each of these agents, carcinogenicity in rats and/or mice, els, differences in exposure con- there was sufficient evidence of car- for example for the liver (aflatoxins, ditions between studies in animals cinogenicity from studies in rats and/ trichloroethylene [TCE], and vinyl and in humans, or limitations in Part 1 · Chapter 1. (who.int)

These mutants were found to have significant defects in fatty acid elongation and exhibited a marked reduction in intracellular growth. (biobender.com)
RESULTS Isolation of conditional mutants for non-redundant components of fatty acid elongation We have previously generated mutants with defects in individual ELO complexes by targeted deletion of the ELO gene KU-60019 locus by homologous recombination (Ramakrishnan ELO pathway hydroxyacyl-CoA dehydratase (DEH) and enoyl-CoA reductase (ECR). (biobender.com)
Polyglutamine-binding protein 1 ( PQBP1 ) is an RNA-splicing factor that, when mutated, in humans causes Renpenning syndrome, an X-linked intellectual disability disease characterized by severe cognitive impairment, but also by physical defects that suggest PQBP1 has broader functions in embryonic development. (xenbase.org)
Both genes are expressed in the nascent mesoderm and neurectoderm , and morpholino knockdown of either causes defects in differentiation and morphogenesis of the mesoderm and neural plate . (xenbase.org)
Studies in zebrafish demonstrated defects in cell migration, cell spreading, and primary cilia assembly in the presence of mutant OCRL1. (medscape.com)

one heterozygous de novo ANGPT2 whole-gene deletion and four heterozygous ANGPT2 missense mutations. (genengnews.com)
Several mutations in the OCRL gene have been described, including truncation mutations, missense mutations, and large deletions. (medscape.com)

Mutant S. cerevisiae with deletions in two ALD genes are unable to convert radiolabeled Trp to IAA, yet produce IAA in the absence of exogenous Trp and at levels higher than wild type. (nih.gov)
Examination of the phenotypic impact of network perturbation across 14 environmental conditions using deletion mutant data from the baker's yeast Saccharomyces cerevisiae suggests that fitness in diverse environments is impacted by orthologous gene neighborhood and connectivity. (biorxiv.org)
For example, our group has examined the genes regulated by the Zap1p transcription factor in S. cerevisiae using DNA microarrays and promoter motif analysis [ 1 ] (Figure 1 ). (biomedcentral.com)
Here we apply the system to the determination of gene function using deletion mutants of yeast (Saccharomyces cerevisiae) and auxotrophic growth experiments. (aber.ac.uk)

99 of the 104 mutant alleles are present in a heterozygous state and cause DRD in a dominant fashion with reduced penetrance. (medscape.com)
Lipolytic activity was absent in the null mutants, whereas the WT, heterozygous, and reconstructed mutants showed similar lipase production. (elsevierpure.com)

Most DMD patients display deletion mutations of one or more of the 79 exons in the DMD gene, leading to out-of-frame mutations and loss of dystrophin protein in their muscle fibers. (nature.com)
Here, we describe a complete knockout mouse model of the autism-associated Shank3 gene, with a deletion of exons 4-22 (Δe4-22). (duke.edu)
This gene in humans contains 6 exons, and various mutations (missense, frameshift, base insertions, base deletions) have been described. (medscape.com)
The OCRL gene is located on Xq25-q26 and consists of 24 exons occupying 52kb. (medscape.com)

Deletion of the GYP1 gene or overexpression of Gyp1p did not alter the growth rate of yeast. (embl.de)
We present a comprehensive gene coevolution network inferred from the examination of nearly three million orthologous gene pairs from 332 budding yeast species spanning ∼400 million years of eukaryotic evolution. (biorxiv.org)
The budding yeast coevolution network captures the hierarchy of eukaryotic cellular structure and function, provides a roadmap for genotype-to-phenotype discovery, and portrays the genome as an extensively linked ensemble of genes. (biorxiv.org)
Zap1p activates the transcription of its target genes in zinc-limited but not in zinc-replete yeast cells. (biomedcentral.com)
In a complementary study, Foury and Talibi [ 4 ] identified genes upregulated in a yfh1 mutant strain of yeast. (biomedcentral.com)

With genome or EST sequences in hand, microarrays or macroarrays can be constructed to analyze gene-expression profiles at the genome-wide level over a range of conditions. (biomedcentral.com)
See how the University of Washington used HiFi sequencing to uncover a key finding about ALS and the human genome. (pacb.com)
Next generation sequencing (NGS) is a new frontier in cancer and biomedical research, and these approaches are rapidly becoming the preferred method for human disease-based analysis due to vastly improved genome coverage and resolution [ 1 ]. (biomedcentral.com)
Using this technique, we deleted the lipase locus in the C. parapsilosis genome consisting of adjacent genes CpLIP1 and CpLIP2. (elsevierpure.com)
Her work often combines Gene and Genome studies. (research.com)
Human genome-wide association studies have linked SH2B adaptor protein 3 (SH2B3, LNK) to hypertension and renal disease, although little experimental investigation has been performed to verify a role for SH2B3 in these pathologies. (mcw.edu)

With regard to BH4 deficiencies, more than 190 different mutant alleles or molecular lesions have been identified, including in the genes for guanosine triphosphate cyclohydrolase (GCH), 6-pyruvoyl-tetrahydropterin synthase (PTPS), sepiapterin reductase (SR), carbinolamine-4a-dehydratase (PCD), and dihydropteridine reductase (DHPR). (medscape.com)
This is not surprising given the strong evidence for interaction between myelin and axon gene expression in development and after experimental nerve lesions. (medscape.com)

The phenotypes of the above genes range from embryonic and larval lethality to slow development and sterility. (grantome.com)
There are three main stages of mammary gland development both in rodents and humans: embryonic, pubertal and adult. (biologists.com)

The full-length isoform is active (expressed) in multiple tissues, where it regulates the activity of a wide variety of genes involved in maintaining the stability of cells' genetic information. (medlineplus.gov)
These genetic changes prevent the production of any functional skin-specific isoform from one copy of the gene, which reduces the total amount of this protein in skin cells. (medlineplus.gov)
Loss of Treg identity via genetic or transient BMI1 depletion perturbs the epigenome and converts Tregs into Th1/Th17-like proinflammatory cells, a transition relevant to human Crohn's disease associated CD4+ T cells. (jci.org)
If these criteria are met, genetic suppressor and enhancer screens could be performed to identify interacting factors that function with any given gene and the biological process in which it functions. (grantome.com)
There are temperature-sensitive missense alleles of these genes, making them ideal for genetic suppression screens. (grantome.com)
We are carrying out straightforward genetic suppression screens with these mutants. (grantome.com)
The manuscript has been extensively revised for clarity, especially with respect to the key similarities and differences that we observe between the orthologous gene coevolution network of budding yeasts vs. the genetic interaction networks constructed in single organisms. (biorxiv.org)
It is notable that both zrt3 and zrc1 mutants grow normally under zinc-replete or zinc-limiting conditions and, thus, would have been very difficult to identify using classical genetic approaches. (biomedcentral.com)
The research in Jiang’s lab is directed at understanding genetic and epigenetic basis of human diseases with a focus on genomic imprinting disorders of Angelman and Prader-Willi syndrome as well as autism spectrum disorders. (duke.edu)
Genetic deletion of individual ELO complexes had little effect on the intracellular growth of tachyzoites in host cells suggesting functional redundancy between these complexes and/or that other fatty acid biosynthetic or salvage mechanisms compensate for the loss of individual SLC7A7 ELO complexes. (biobender.com)

Both the game and the television series take place in a postpandemic world, in which most humans have been either transformed into zombies by a human-adapted, mind-controlling fungal species of Cordyceps or killed by zombies, rogue humans, or the totalitarian state. (cdc.gov)
In humans, the importance of fungal infections has been increasing because of the increase in susceptible populations, in particular immunocompromised persons of varying immunologic deficits, ranging from transplant patients to persons with diabetes mellitus (which is known to predispose persons to severe mucormycosis) ( 10 ). (cdc.gov)
Selective pressures might account for emergence of novel fungal pathogens, as in the case of C. auris , the concurrent worldwide appearance of which might be a consequence of global warming, enabling fungal species to adapt to higher temperatures and subsequently to human body temperature, a major obstacle to the development of nonsuperficial fungal infections in humans ( 2 , 12 ). (cdc.gov)
Human practices also induce fungal reemergence, as with the appearance of resistant Aspergillus species because of the extensive, uncontrolled use of fungicides in agriculture ( 13 ). (cdc.gov)
This efficient system for targeted gene deletion holds great promise for rapidly enhancing our knowledge of the biology and virulence of this increasingly common invasive fungal pathogen. (elsevierpure.com)

We have determined that many of these candidates satisfy all of the above criteria- there are mutations in these genes and they reveal very penetrant and scorable phenotypes. (grantome.com)
We are currently focusing on two type IV collagen genes, emb-9 and let-2, whose mutant phenotypes were previously characterized by Dr. James Kramer at Northwestern University. (grantome.com)
For each of these genes, mutations in them appear to reveal recessive, highly penetrant phenotypes. (grantome.com)
The uba-1 mutant has a number of distinct phenotypes and thus we will need to score our suppressors for their ability to suppress each of these phenotypes. (grantome.com)
Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)

Point mutations and small deletions or insertions of the CBP and EP300 genes 3,18,19, as well as deletions and duplications 41000 bp in length to megabases, have been shown to lead to Rubinstein-Taybi syndrome. (medscape.com)

In this variant, a 16-base pair frame shift duplication occurs at exon 15 of the HPS1 gene. (medscape.com)
Less pronounced severity of immunodeficiency can be due to a novel 2 bp-deletion (c.3222_3223delTG) in the final exon of AP3B1, causing a frameshift and thus a prolonged altered HPS2 protein. (medscape.com)

We observed that IAA also induced hyphal growth in the human pathogen Candida albicans and thus may function as a secondary metabolite signal that regulates virulence traits such as hyphal transition in pathogenic fungi. (nih.gov)
Aft1p regulates genes involved in iron metabolism, and Mac1p regulates genes involved in copper homeostasis. (biomedcentral.com)

It is also known as Malta fever, one of the neglected diseases that can cause infection in both animals and humans. (bvsalud.org)
For human autosomal recessive diseases in which the responsible gene is known, we are using C. elegans to study the function of that gene and to genetically identify other factors that act in the same pathway. (grantome.com)
Towards this end, we are using CRISPR technology to generate mutant alleles analogous to those found in human diseases. (grantome.com)
Mutations in the human type IV collagens cause a number of diseases. (grantome.com)
Jacobs, Russell E. Year: 2006 DOI: 10.1016/j.neuroimage.2005.08.037 PMCID: PMC3376084 Shiverer is an important model of central nervous system dysmyelination characterized by a deletion in the gene encoding myelin basic protein with relevance to human dysmyelinating and demyelinating diseases. (caltech.edu)

DMD is an X-chromosome linked recessive disorder caused by a loss of function of the dystrophin gene of 2.3 million base pairs, which results in progressive weakness and atrophy of the skeletal and cardiac muscles. (nature.com)

These sporadic cases may be explained by either incomplete penetrance/expression of GCH1 gene mutations or by de novo mutations or deletions in the gene. (medscape.com)

The locus of Rubinstein-Taybi syndrome is located on band 16p13.3, which includes a gene encoding a binding protein for cyclic adenosine monophosphate-response element binding protein (CBP) ( CREBBP or CBP gene) that is responsible for the phenotype of Rubinstein-Taybi syndrome. (medscape.com)
The locus at chromosome 1q21 was identified by linkage mapping in 1998, but the gene has only recently been discovered due to difficulty with sequencing this highly repetitive region and was previously missed using next-generation sequencing. (medscape.com)

Nousbeck J, Sarig O, Magal L, Warshauer E, Burger B, Itin P, Sprecher E. Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes. (medlineplus.gov)
The gene for GCH has been cloned to 14q 22.1-22.2 and is the gene responsible for autosomal-dominant DRD/HPD. (medscape.com)
10] More than 50% of patients with autosomal-dominant inherited DRD have mutations in the GCH1 gene. (medscape.com)
Systemic manifestations of OFD1 mutations include polycystic kidneys that resemble those caused by mutations in the PKD1 or PKD2 genes associated with autosomal dominating polycystic kidney disease (ADPKD) [1], [2]. (liveconscience.com)

The SMARCAD1 gene provides instructions for making two versions (isoforms) of the SMARCAD1 protein: a full-length isoform and a shorter, skin-specific isoform. (medlineplus.gov)
The place of the deletion is at the very C-terminal's end, preventing a complete loss of the HPS2 protein. (medscape.com)
The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. (cancerindex.org)
What does this gene/protein do? (cancerindex.org)
The polycystins have pivotal EGFR functions in calcium dependent signaling to multiple pathways and loss of signaling rules when the protein are mutant is usually thought to cause epithelial cell transdifferentiation and contribute to renal cyst development [2]. (liveconscience.com)

Conditional deletion of BMI1 in murine FOXP3+ cells led to systemic inflammation. (jci.org)
Here we report the isolation of two conditional mutants lacking nonredundant enzymes of the ELO pathway hydroxyacyl-CoA dehydratase and enoyl-CoA reductase. (biobender.com)

A tetracycline promoter along with a selectable marker was targeted just upstream of the initiation codon of the gene by homologous recombination using suitable 5? (biobender.com)

Mutant huntingtin expression in the hypothalamus promotes ventral striatal neuropathology. (lu.se)

The patient's own cells are harvested, the mutated gene corrected using CRISPR-mediated gene editing, and the cells returned to the patient. (maxcyte.com)
In these studies, CD34+ hematopoietic stem cells (HSPCs) were isolated from X-CGD patients and electroporated with CRISPR-Cas9, guide RNA and the gene-correcting, oligo template using the MaxCyte GTx. (maxcyte.com)

We have developed an efficient gene deletion system for C. parapsilosis based on the repeated use of the dominant nourseothricin resistance marker (caSAT1) and its subsequent deletion by FLP-mediated, site-specific recombination. (elsevierpure.com)

[ 6 ] However, the gene mutations responsible for the different forms of CMT1 are clearly myelin genes. (medscape.com)

The knockout mutants were more efficiently ingested and killed by J774.16 and RAW 264.7 macrophage-like cells. (elsevierpure.com)

Angelman syndrome and Prader-Willi syndrome are two best examples of genomic imprinting disorders caused by the defect of an imprinting domain in the human chromosome 15q11-q13 region. (duke.edu)

Figure 4: Therapeutic CCR5 Gene Disruption. (maxcyte.com)
These studies represent what we believe to be the first targeted disruption of a gene in C. parapsilosis and show that C. parapsilosis-secreted lipase is involved in disease pathogenesis. (elsevierpure.com)
Disruption of the human CBP gene, either by gross chromosomal rearrangements or by point mutations, leads to Rubinstein-Taybi syndrome. (medscape.com)

About 148,000 types have been characterized, a few hundred of which are pathogenic for humans ( 2 ). (cdc.gov)
In today's study we utilized a lizard parasitic protozoan that's not pathogenic to human beings could elicit a protecting immune system response against infectious problem. (bioxorio.com)

The phase 1/2 trials showed that CD4 cells with a disrupted CCR5 gene could be engrafted, were safe and persisted, but toxicity related to the adenoviral vector precluded the trials from progressing. (maxcyte.com)
The CCR5 gene is located rently living with HIV/AIDS [ 1 ]. (who.int)
2002, while the estimated number could be deletion in the CCR5 gene [ 5,6 ]. (who.int)

Biofilm formation was inhibited with lipase-negative mutants and their growth was significantly reduced in lipid-rich media. (elsevierpure.com)
As a postdoctoral researcher in Dianne Newman 's lab at the California Institute of Technology, Dar developed a way to track gene activity across the entire biofilm with submicrometer resolution. (the-scientist.com)

In the HEK293T human cancer cell line, expression of RNF43 blocks Wnt responses and targets surface-expressed frizzled receptors to lysosomes. (knaw.nl)

Candida parapsilosis is a major cause of human disease, yet little is known about the pathogen's virulence. (elsevierpure.com)

Although the product of IE gene 1, Vmw110, is not absolutely essential for virus growth in tissue culture, transfection experiments have demonstrated that Vmw110 can activate gene expression both by itself and in a synergistic manner with the product of IE gene 3, Vmw175. (microbiologyresearch.org)
The mutant viruses were then studied in single-step growth curve experiments, by assaying for plaques in a variety of cell types and by analysis of viral polypeptide synthesis during productive infection at high and low multiplicities. (microbiologyresearch.org)

The patterns and amounts of viral polypeptide synthesis during high multiplicity infections with mutant and wild-type viruses were similar in all cell types. (microbiologyresearch.org)
comprehensive lipidomic analyses of these mutants showed a selective defect in synthesis of unsaturated long and very long chain fatty acids (LCFAs and VLCFAs) and depletion of phosphatidylinositol and phosphatidylethanolamine species containing unsaturated LCFAs and VLCFAs. (biobender.com)

Modules within the network provide insight into cellular and genomic structure and function, such as genes functioning in distinct cellular compartments and DNA replication. (biorxiv.org)

Desk 1 The SLC26 Multifunctional Anion Exchanger /Anion Route gene Family includes a one SulP polypeptide, YchM. (exposed-skin-care.net)

Orthologous gene coevolution-which refers to gene pairs whose evolutionary rates covary across speciation events-is often observed among functionally related genes. (biorxiv.org)
Corinne Cruaud combines Evolutionary biology and Gene in her research. (research.com)

Targeted gene deletion mutants hold promise for future vaccines, because specific bacterial functions can be removed that may improve safety and allow differentiation from field strains. (altmetric.com)
These strains have a decreased ability for gut and tissue colonization and are unable to survive in egg white, the latter preventing transmission of the vaccine strains to humans. (altmetric.com)

Thus, there is usually an urgent need to clarify how the OFD1 gene product might cross-talk with the pathways regulated by the PKD1 and PKD2 genes to result in a common disease phenotype. (liveconscience.com)

And in fact by some very tortuous reasoning which of course clarified the moment one said it, I said that, 'What would it be like if there were not only base substitutions but base additions and deletions? (webofstories.com)
Among the identified mutations, one deletes one copy of the entire gene, whereas the four other ones are amino acid substitutions. (genengnews.com)

The polycomb repressive complexes play a role in FOXP3 target gene regulation, but deeper mechanistic insight is incomplete. (jci.org)
We have now specifically identified the polycomb-repressive complex 1 (PRC1) family member, BMI1 in the regulation of a proinflammatory enhancer network in both human and murine Tregs. (jci.org)
The regulation of transcription of viral and cellular genes by herpesvirus immediate-early gene products. (microbiologyresearch.org)
This gene thus plays a role in both cell-cycle and epigenetic regulation. (cancerindex.org)

Microarray profiling of hypothalamic gene expression changes in Huntington's disease mouse models. (lu.se)

Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. (lu.se)
This resulted in 3.1 mil- for primary human immunodeficiency vi- lion deaths in 2002. (who.int)

As pretreatment of iΔECR parasites with ATC for 48 hr results in parasite death labeling studies in this mutant were initiated. (biobender.com)

Promoter sequence and cell type can dramatically affect the efficiency of transcriptional activation induced by herpes simplex virus type 1 and its immediate-early gene products Vmw175 and Vmw110. (microbiologyresearch.org)

For a more thorough review of the role of phosphatidylinositol and the cellular and physiological functions of OCRL1 please refer to the following 2 reviews: (1) McCrea HJ, De Camilli P. Mutations in phosphoinositide metabolizing enzymes and human disease. (medscape.com)

Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)

Additionally, the lipase-negative mutants were significantly less virulent in infection models that involve inoculation of reconstituted human oral epithelium or murine intraperitoneal challenge. (elsevierpure.com)

Many fish have variants prolactin A and prolactin B. Most vertebrates, including humans, also have the closely related somatolactin. (wikipedia.org)
In humans, three smaller (4, 16, and 23 kDa) and several larger (so-called big and big-big) variants exist. (wikipedia.org)
UMOD risk variants identified in the above-mentioned GWAS are located in the promoter region of the gene, leading to a theory that they altered UMOD expression. (medscape.com)

In this poster, we present a GMP-compliant, scalable electroporation-based technology for engineering primary human cells, stem cells and cell lines with high efficiency while maintaining high cell viability. (maxcyte.com)

Four years later, he and John Paul (Beatson Institute for Cancer Research, Glasgow) reported that infants with this disorder lack α globin genes. (laskerfoundation.org)
To our knowledge, this is the first study in the literature to examine the mRNA expression of CDK2AP1 in human breast cancer over a long-term follow-up period. (cancerindex.org)
In the RNF43-mutant colorectal cancer cell line HCT116, reconstitution of RNF43 expression removes its response to exogenous Wnt. (knaw.nl)
Aberrant GLYAT expression is associated with human cancers, yet its role in cancer remains unknown. (sdbonline.org)

Twenty genes form the basis of a bacterial CCM. (elifesciences.org)
However utilization of bacterial or viral recombinant vectors as candidate vaccines in humans is hampered due to problems of either preexisting immunity or inefficient antigen delivery and safety issues. (bioxorio.com)

In biological experiments that automatically reconstruct parts of this model, we show that an intelligent experiment selection strategy is competitive with human performance and significantly outperforms, with a cost decrease of 3-fold and 100-fold (respectively), both cheapest and random-experiment selection. (aber.ac.uk)
Also, infiltration of leukocytes into the kidneys, a key mediator of Dahl SS pathology, was significantly blunted in the Sh2b3(em1Mcwi) mutant rats. (mcw.edu)

Effects of mutant huntingtin in oxytocin neurons on non-motor features of Huntington's disease. (lu.se)

At low multiplicity, mutations in Vmw110 reduced viral gene expression in the least permissive cell type. (microbiologyresearch.org)
its inactivity leads to the failure to express viral genes so that the virus does not enter the lytic cycle. (microbiologyresearch.org)

In clinical trials in humans whole killed vaccines with BCG as an adjuvant failed to confer protection against cutaneous leishmaniasis (42 58 or visceral leishmaniasis (33). (bioxorio.com)

Human neuroimaging studies suggest that aberrant neural connectivity underlies behavioural deficits in autism spectrum disorders (ASDs), but the molecular and neural circuit mechanisms underlying ASDs remain elusive. (duke.edu)
Next Generation Sequencing (NGS) methods are rapidly providing remarkable advances in our ability to study the molecular profiles of human cancers. (biomedcentral.com)
At the molecular level, knockdown of PQBP1 in Xenopus animal cap explants inhibits target gene induction by FGF but not by BMP, Nodal or Wnt ligands, and knockdown of either PQBP1 or WBP11 in embryos inhibits expression of fgf4 and FGF4 -responsive cdx4 genes. (xenbase.org)

Anatomy21

Organisms18

Diseases10

Chemicals and Drugs55

Analytical, Diagnostic and Therapeutic Techniques and Equipment41

Psychiatry and Psychology1

Phenomena and Processes119

Disciplines and Occupations3

Technology, Industry, Agriculture1

Information Science4

Health Care1

Mutation19

Proteins9

Encodes4

Genetics3

Mice7

Defects5

Missense mutations2

Cerevisiae4

Heterozygous2

Exons4

Yeast5

Genome6

Lesions2

Embryonic2

Genetic10

Fungal5

Phenotypes5

Insertions1

Exon2

Regulates2

Diseases5

Recessive1

Novo1

Locus2

Autosomal4

Protein5

Conditional2

Homologous1

Hypothalamus1

CRISPR2

Dominant1

Myelin1

Knockout1

Chromosome1

Disruption3

Pathogenic2

CCR53

Biofilm2

Lysosomes1

Candida1

Growth2

Synthesis2

Genomic1

Polypeptide1

Evolutionary2

Strains2

Pathways1

Substitutions2

Regulation4

Microarray1

Immunodeficiency2

Parasite1

Sequence1

Enzymes1

DataSets1

Murine1

Variants3

Stem cells1

Cancer4

Bacterial2

Significantly2

Neurons1

Viral2

Vaccines1

Molecular3