Absence gene deletion. Medical search. Frequent questions

The majority of classical LFS families harbour germline mutations of the p53 tumour suppressor gene. (bmj.com)
13 14 Although p16 INK4a is most frequently inactivated by homozygous deletion, point mutations or somatic methylation of 5′ regulatory regions are also important mechanisms of gene inactivation. (bmj.com)
To the our best of knowledge, this is the first study to report the existence of homozygous and heterozygous mutations at positions 554, 555 and 559 in exon 4 of SLC35A3 gene in Indian Holstein cattle. (researchgate.net)
Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. (cancerindex.org)
It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. (nih.gov)
Mutations in the recently identified MEN1 gene at chromosome 11q13 have been found in parathyroid tumors of nonfamilial pHPT. (lu.se)
Allelic loss at 11q13 was detected in 13 tumors, and 6 of them demonstrated previously unrecognized somatic missense and frameshift deletion mutations of the MEN1 gene. (lu.se)
Clinical and biochemical characteristics of HPT were apparently unrelated to the presence or absence of LOH and the MEN1 gene mutations. (lu.se)
However, the demonstration of LOH at 11q13 and MEN1 gene mutations in small parathyroid adenomas of patients with slight hypercalcemia and normal serum PTH levels suggest that altered MEN1 gene function may also be important for the development of mild sporadic pHPT. (lu.se)
A genetic interaction is inferred when mutations or deletions in separate genes, each of which alone causes a minimal phenotype, result in lethality when combined in the same cell under a given condition. (thebiogrid.org)
At least four mutations in the SMARCAD1 gene have been found to cause adermatoglyphia, which is the absence of dermatoglyphs on the hands and feet. (medlineplus.gov)
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)
This will detect point mutations, small deletions and small insertions. (nemours.org)
Other genes are known to be associated with FIH and this test will only detect mutations in GCM2. (nemours.org)
The majority of AS cases arise from deletions or mutations of UBE3A gene located on the chromosome 15q11-13. (usf.edu)
Mutations in the RBM8A gene cause thrombocytopenia-absent radius (TAR) syndrome. (medlineplus.gov)
A small number of affected individuals have mutations in both copies of the RBM8A gene in each cell and do not have a deletion on chromosome 1. (medlineplus.gov)
RBM8A gene mutations that cause TAR syndrome reduce the amount of RNA-binding motif protein 8A in cells. (medlineplus.gov)
People with either an RBM8A gene mutation and a chromosome 1 deletion or with two gene mutations have a decreased amount of RNA-binding motif protein 8A. (medlineplus.gov)
Some mutations are inherited on genes passed down from parents, while others occur during an individual's lifetime. (healthywomen.org)
HGF c Met signaling can induce paxillin phosphorylation at its tyrosine residue, which in turn promotes tumor progression by enhancing tumor cell migration and spread.ten Activating c Met mutations are already proven to increase paxillin phosphorylation in SCLC.5 Furthermore, paxillin has become proven to be very expressed, and its gene from time to time amplified or mutated in NSCLC 11. (hormonespathway.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)
[ 6 ] However, the gene mutations responsible for the different forms of CMT1 are clearly myelin genes. (medscape.com)
Mutations in genes concerned with production of enzymes for metabolism of tobacco products may lead to increased risk of carcinogenesis with respect to oral mucosa. (bvsalud.org)
mutations high frequency of IDH1/2 mutations in oligodendrogliomas, astrocytomas and in alteRations in the RB1 pathway in The TET2 gene encodes the -KG- secondary glioblastomas derived thereof low-gRade diffuse gliomas lacking dependent enzyme that catalyses suggests that these tumours share a common genetic alteRations the conversion of 5-methylcytosine to common progenitor cell population. (who.int)
Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency. (lu.se)
Diagnosis of Mutations in the dystrophin gene can cause Duchenne these disorders is based on clinical presentation, muscular dystrophy or Becker muscular dystrophy. (who.int)
90% of cases, mutations that from mutation in the dystrophin gene (located on short disrupt the reading frame (frame shift) lead to arm of X chromosome, Xp21). (who.int)

In Phelan-McDermid syndrome there is a small piece of chromosome 22 missing (a deletion). (rug.nl)
This may be due to a pure deletion (which does not involve another chromosome), a translocation (which occurs with the loss of more material from another chromosome), or due to a ring form (the two ends of chromosome 22 have joined together). (rug.nl)
The pathogenic germline deletion of varying lengths of chromosomal material along the short arm of chromosome 11, including WT1 and PAX6 , is the underlying defect. (medscape.com)
Subject A has a large deletion on chromosome 11 that removes one copy of the BDNF gene. (medscape.com)
TRPS2 is due to the absence of genetic material (chromosomal deletions) on chromosome 8, which often includes the TRPS1 gene and EXT1 gene. (nih.gov)
PWS occurs due to abnormalities affecting certain genes in the proximal long arm of chromosome 15 when deleted from the father's chromosome 15 and hence referred to as a genomic imprinting disorder which depends on the sex of the parent donating the chromosome leading to the chromosome defect in the child. (rarediseases.org)
a gene located in a chromosome region suspected of being involved in a disease. (womenshealthsection.com)
Most people with TAR syndrome have a mutation in one copy of the RBM8A gene and a deletion of genetic material from chromosome 1 that includes the other copy of the RBM8A gene in each cell. (medlineplus.gov)
The deletions involved in TAR syndrome eliminate at least 200,000 DNA building blocks (200 kilobases, or 200 kb) from the long (q) arm of chromosome 1 in a region called 1q21.1. (medlineplus.gov)
The RBM8A gene is found on chromosome 1 . (medlineplus.gov)
Duchenne muscular dystrophy (DMD) is a genetic disease caused by a "frameshift" deletion or a nonsense mutation in the DMD1 gene found on the X chromosome coding for dystrophin [1-8]. (peertechzpublications.org)
The chromosomes hold 20,000 to 25,000 genes, meaning that each chromosome is densely packed with genes. (healthywomen.org)
Almost all humans have two copies of each chromosome and therefore have two copies of each gene, one inherited from the mother and the other from the father. (healthywomen.org)
A chromosome contains hundreds to thousands of genes. (msdmanuals.com)
A chromosome contains many genes. (msdmanuals.com)
The deletion of varying lengths of chromosomal material along the short arm of chromosome 11 is the underlying defect, and developmental abnormalities are related to the contiguous loss of neighboring genes. (medscape.com)

It is caused by a point mutation (G→T) at nucleotide position 559 of the gene, bovine solute carrier family 35 member 3 (SLC35A3). (researchgate.net)
A mutation in this gene results in amorph-type Rh-null disease. (nih.gov)
It occurs more frequently in male smokers, and the epidermal growth factor receptor ( EGFR ) gene is often mutation‑free. (spandidos-publications.com)
The pathological diagnosis was SMARCA4‑dNSCLC with an EGFR gene mutation. (spandidos-publications.com)
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)
Interestingly, none of the 16 animals genotyped for the deletion carried the mutation, which suggests a rather recent origin for the mutation. (biomedcentral.com)
If only one copy of a given gene has a mutation, you are a healthy carrier of the disorder. (healthywomen.org)
If both copies of a gene have a mutation, you will have the disease. (healthywomen.org)
Those who are diagnosed with a recessive disease have inherited two copies of a gene, both carrying a mutation. (healthywomen.org)
Therefore, since one of those copies came from the mother and the other from the father, both parents must have at least one copy of the gene with a mutation. (healthywomen.org)
If two carriers of the same disease-causing gene have children, each pregnancy has a 25 percent chance of having the disease (because of a 25 percent chance of inheriting both the mother's and the father's mutated copies of the gene), a 50 percent chance of being a carrier and a 25 percent chance of not inheriting the mutation at all. (healthywomen.org)
Some traits are caused by mutated genes that are inherited or that are the result of a new gene mutation. (msdmanuals.com)

Also, sometimes pieces of chromosomes become switched, or transposed, so that a gene ends up in a location where it is permanently and inappropriately turned on or off. (healthywomen.org)
The genes on the chromosomes are responsible for making proteins, which direct our biological development and the activity of about 100 trillion cells in our bodies. (healthywomen.org)
Chromosomes are structures within cells that contain a person's genes. (msdmanuals.com)
Genes are contained in chromosomes, which are in the cell nucleus. (msdmanuals.com)
Protein synthesis is controlled by genes, which are contained on chromosomes. (msdmanuals.com)

Contribution of xeroderma pigmentosum complementation group D gene polymorphisms in breast and ovarian cancer susceptibility: A protocol for systematic review and meta analysis. (cdc.gov)

Subsequent screening for structural variants in candidate genes located in the same regions identified a homozygous deletion that includes exons 17 to 23 of the integrin beta 4 ( ITGB4 ), a gene that was previously associated with the same defect in humans. (biomedcentral.com)
We narrowed the genetic disease interval and identified a 3,441-bp deletion in the Kcnn2 gene, one of the three candidate genes present in the interval. (pasteur.fr)

The hallmark of all BL tumours is the translocation between the MYC gene and one of the immunoglobulin (Ig) heavy or light chain loci. (bmj.com)
Primary humoral deficiencies vary from complete absence of B cells, serum immunoglobulin (Ig), or both to lacunar deficits that involve specific antibody responses to polysaccharides. (medscape.com)
[ 1 ] In 1993, Plebani et al described 2 siblings who appeared to be healthy and who did not have increased infections despite extensive deletion of immunoglobulin heavy chain locus. (medscape.com)

The total chromosomal content of a cell involves approximately 105 genes in a specialized macromolecule of deoxyribonucleic acid (DNA). (cdc.gov)
As the name suggests, a genetic test looks at your genes, which consist of DNA (deoxyribonucleic acid). (healthywomen.org)
Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic acid (RNA) molecules. (msdmanuals.com)
Genes consist of deoxyribonucleic acid (DNA). (msdmanuals.com)

SOX1 is a gene that encodes a transcription factor with a HMG-box (high mobility group) DNA-binding domain and functions primarily in neurogenesis. (wikipedia.org)
The SOX gene family encodes transcription factors. (wikipedia.org)
This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. (cancerindex.org)
The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. (nih.gov)

8 9 This lack of an absolute phenotype:genotype concordance could be attributed to incomplete screening of the p53 gene, inactivation of the p53 protein through interaction with other cellular proteins or viruses, or defects in other genes involved in p53 mediated cell cycle regulatory pathways. (bmj.com)
The affected fetuses have a severe phenotype with a lack of fetal movement resulting in four-limb arthrogryposis and absence of palmar and plantar creases, white hair, dystopia canthorum, and in one case cleft palate and in the other a cardiac malformation. (nih.gov)
Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. (acog.org)
We generated mice with combined inactivation of the genes coding for SOCS-3 and PTP-1B in brain cells, examined their sensitivity to hormone action, and analyzed the contribution of each gene to the resulting phenotype. (diabetesjournals.org)
Surprisingly, the Nestin-Cre mice used to mediate gene inactivation displayed a phenotype. (diabetesjournals.org)

Genomic deletion of a fms-intronic regulatory element (FIRE) in the Csf1r locus resulted in specific absence of resident homeostatic and antigen-presenting macrophages, without affecting the recruitment of monocyte-derived macrophages to the infarcted heart. (elifesciences.org)
The genes encoding the type II gonadotropin-releasing hormone receptor and the ribonucleoprotein RBM8A in humans overlap in two genomic loci. (medlineplus.gov)

Using microsatellite analysis for loss of heterozygosity (LOH) at 11q13 and DNA sequencing of coding exons, the MEN1 gene was studied in 49 parathyroid lesions of patients with divergent symptoms, operative findings, histopathological diagnosis, and biochemical signs of nonfamilial pHPT. (lu.se)

65% of the characterized by pathological evidence of ongoing pathogenic changes are large partial deletions. (who.int)

The identification of the gene responsible for Wilms tumor did not occur until 1990, when 3 groups independently identified the WT1 gene on band 11p13. (medscape.com)
Deletion of the PAX6 gene as part of the band 11p13 deletion in patients with AGR or WAGR syndrome results in aniridia. (medscape.com)
[ 6 ] Wilms tumor occurs in more than 30% of patients with 11p13 deletions. (medscape.com)

The induction of this neuroectoderm occurs upon expression of the SOX1 gene. (wikipedia.org)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
The results were validated both by gene expression analysis and immunohistochemistry study in an independent 55 clinical samples from Fudan University Shanghai Cancer Center. (cancerindex.org)
In addition, such studies could facilitate targeted expression of potentially therapeutic genes to the vestibular system epithelium. (nih.gov)
The genetic structure includes 4 zinc-finger regions, which suggest that WT1 may be important in controlling the expression of other genes. (medscape.com)
Microarray analysis of ATRA treated WT cells revealed differential expression of many genes involved in extracellular matrix formation and osteogenic, neuronal or muscle differentiation. (uni-wuerzburg.de)
In vitro testing of primary tumor cultures provided clear evidence of a potential utility of retinoids in Wilms tumor treatment based on the analysis of gene expression, proliferation, differentiation and apoptosis. (uni-wuerzburg.de)
In addition, we found that isolated islets from Chop -/- mice displayed increased expression of UPR and oxidative stress response genes and reduced levels of oxidative damage. (jci.org)
It has been known for many years that the fundamental transforming event in BL is the translocation of the MYC gene, and the events that bring about this translocation and those that allow cells to survive with the constitutive expression of MYC have been the subject of intense investigation. (bmj.com)
Murcott), We have discovered that the Murcott mandarin Cstps1 gene expression is severely reduced. (biomedcentral.com)
There was a clear relationship between presence or absence of the valencene synthase gene ( Cstps1 ) expression, and presence or absence of valencene among randomly selected mandarin hybrids. (biomedcentral.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)
Whether and how a gene is expressed is determined by a complex interaction of multiple factors including genotype, gene expression, environmental factors (including illnesses and diet), and other factors, some of which are unknown. (msdmanuals.com)
Therefore variations in the expression of these genes due to heritable genetic polymorphisms might modulate the process of carcinogenesis by altering the exposure levels of tobacco derived carcinogens. (bvsalud.org)
Alteration of the pattern of gene expression by oxidants may function in the stimulation of the initiated cell during tumor promotion. (bvsalud.org)
Defective MHC class II expression in an MHC class II deficiency patient is caused by a novel deletion of a splice donor site in the MHC class II transactivator gene. (lu.se)
Absence of MHC class II gene expression in a patient with a single amino acid substitution in the class II transactivator protein CIITA. (lu.se)
How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)

Deletion of histidine-rich protein genes pfhrp2/3 in Plasmodium falciparum causes infections to go undetected by HRP2-based malaria rapid diagnostic tests. (cdc.gov)

Gene sequences from normal and carrier animals were compared using the software, codon code Aligner 4.0.4. (researchgate.net)
By contrast, targeted deletion of genes such as Math1 (a mouse homolog of Drosophila proneural gene atonal ) or sequences encoding BRN 3.1 and BDNF produces congenital sensorineural anomalies of the inner ear. (nih.gov)
For example, the identification of regulatory sequences of genes expressed specifically in the vestibular system will allow the targeted introduction of foreign genes into the vestibular system of transgenic mice. (nih.gov)
[ 2 ] The product of the WT1 gene has zinc finger arrays that bind to specific DNA sequences, whereas the amino terminus appears to regulate transcription. (medscape.com)
The bla gene originates from the cloning vector PUC18 and is not expressed in maize, but has bacterial regulatory sequences that would allow it to become functional were it to be transferred back into bacteria. (gmwatch.org)
However, in the absence of homologous sequences in the recipient cells the transformation dropped by at least about 108 fold in P. stutzeri and 109 fold in Acinetobacter, below the detection limit. (gmwatch.org)
a collection of DNA sequences that code for genes. (womenshealthsection.com)

The current data support previous findings and recapitulate transcriptional regulatory alterations in genes involved in sleep, auditory function, and pain. (frontiersin.org)

The J segments flanking MYC translocated breakpoints typically exhibit deletions and/or additions of base pairs characteristic of normal Ig V(D)J segment rearrangement. (bmj.com)

The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. (nih.gov)
In addition to studying genes, genetic testing in a broader sense includes biochemical tests for the presence or absence of key proteins that signal aberrant gene function. (healthywomen.org)

The involvement of viral DNA-binding proteins in the regulation of virulence genes, transcription, DNA replication, and repair make them significant targets. (mdpi.com)
Genes vary in size, depending on the sizes of the proteins or RNA for which they code. (msdmanuals.com)

It will not detect a partial or whole gene deletion or duplication. (nemours.org)

Both the GU abnormalities and the development of a Wilms tumor in patients with WAGR syndrome are related to the loss of WT1 gene function. (medscape.com)

p66Shc is encoded by the ShcA gene locus that is expressed as three isoforms of about 46, 52, and 66 kDa in mammals. (nature.com)
Therefore, homozygous deletions of large portions of the Ig heavy-chain locus result in individuals with complete absence of 3 or more Ig classes (IgG2, IgG4, IgA1, occasionally IgE). (medscape.com)

Humans have about 20,000 to 23,000 genes. (msdmanuals.com)

As a result of our study, angiotensin converting enzyme gene I/D polymorphism DD genotype could be a genetic marker in ankylosing spondylitis in a Turkish study population. (molvis.org)
The prevalence of the "null" genotype of the GSTM1 and GSTT1 genes was determined by using a multiplex polymerase chain reaction methodology in a group of 233 healthy individuals. (wayne.edu)
The genotype (or genome) is a person's unique combination of genes or genetic makeup. (msdmanuals.com)

Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. (cancerindex.org)
Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. (nih.gov)
Osteogenesis imperfecta (OI) type VI is an extremely rare form of OI caused by biallelic variants in the SERPINF1 gene, which codes for the pigment-epithelium derived factor (PEDF). (bvsalud.org)

The polymorphic genes have subtle effect on cancer risk at individual level but may have a large population impact because the relevant polymorphism may be highly prevalent in a population. (bvsalud.org)

Polymorphisms in XPC and XPD genes modulate DNA damage in pesticide-exposed agricultural workers of Punjab, North-West India. (cdc.gov)

In view of the comparable biological and phenotypic features of p53 and p16 INK4a inactivation, we proposed that germline inactivation of the p16 INK4a gene could account for the predisposition to cancer development in a proportion of LFS families that harboured wild type p53 . (bmj.com)
26-29 Where available, samples from more than one family member were examined to determine whether a germline gene alteration occurred de novo or was inherited. (bmj.com)
Both p53 wild type and p53 mutant samples were included in the p16 INK4a analysis to determine whether germline alterations of one gene precluded the occurrence of alterations of the other. (bmj.com)

Biallelic genetic alterations for two Waardenburg genes, PAX3 and MITF have been previously recognized. (nih.gov)
Herein, we report biallelic deletions in SOX10, a gene associated with Waardenburg syndromes type II and IV. (nih.gov)

Our results show that one out of 60 bulls tested exhibited polymorphism (G→T) at position 559 in exon 4 of SLC35A3 gene. (researchgate.net)
exon 4 of SLC35A3 gene. (researchgate.net)
554, 555 and 559 in exon 4 of SLC35A3 gene in Indian Holstein cattle. (researchgate.net)

E ditor -The Li-Fraumeni syndrome (LFS) is a rare familial cancer syndrome that predisposes gene carriers to the development of diverse early onset malignancies, including soft tissue sarcomas, osteosarcomas, adrenocortical carcinomas, brain tumours, breast carcinomas, and leukaemia, 1-3 with other cancer types occurring less frequently. (bmj.com)
Phelan-McDermid syndrome (also known as 22q13.3 deletion syndrome) is one of the most common microdeletion syndromes with more than 600 cases worldwide. (rug.nl)
The deletion means that there is less SHANK3 protein present in the brains of patients with Phelan-McDermid syndrome. (rug.nl)
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome). (rug.nl)
The brain-derived neurotrophic factor ( BDNF ) gene is also located in the region of chromosomal loss associated with WAGR syndrome. (medscape.com)
[ 4 ] Loss of function of the BDNF gene in some patients with WAGR syndrome may produce obesity and hyperphagia. (medscape.com)
We report a case of a 10-year-old boy with ID and GDD who was diagnosed with Cabezas syndrome, a rare genetic disorder caused by a deletion of the CUL4B gene. (bvsalud.org)
Functional polymorphisms of DNA repair genes in Latin America reinforces the heterogeneity of Myelodysplastic Syndrome. (cdc.gov)

SOX1 has shown clinical significance in its direct regulation of gamma-crystallin genes, which is vital for lens development in mice. (wikipedia.org)
MHC class II deficiency: a disease of gene regulation. (lu.se)

The scientific presentations emphasized developmental processes, encompassing such areas as: 1) the role of homeobox genes and growth factors in inner ear development and plasticity, 2) effects of altered gravitational loading on the development of the inner ear gravity receptor, 3) effects of altered gravitational loading on developing and mature neuromuscular systems and 4) molecular mechanisms that determine muscle fiber diversity and hypertrophic responses. (nih.gov)

Homologous recombination is employed to inactivate genes, particularly genes associated with MHC antigens. (justia.com)

This non systematic review summarizes current data available on the role of environment gene interaction in form of GSTM1 null polymorphism and oral carcinogenesis. (bvsalud.org)
Relationship between GSTM1 null polymorphism in oral cancer needs to be established to confirm the role of environment gene interaction in oral carcinogenesis. (bvsalud.org)

Burger B, Fuchs D, Sprecher E, Itin P. The immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges. (medlineplus.gov)

If B-cell development arrest leads to clinically significant decreases in or an absence of all Ig production, the result is agammaglobulinemia or hypogammaglobulinemia (see Agammaglobulinemia ). (medscape.com)

SOX1, SOX2 and SOX3, members of the SOX gene family (specifically the SOXB1 group), contain transcription factors related to SRY, the testis-determining factor. (wikipedia.org)

To our knowledge, angiotensin converting enzyme ( ACE ) gene I/D polymorphisms have not yet been investigated in AS patients in Turkish population.This study was conducted in Turkish patients with AS to determine the frequency of I/D polymorphism genotypes of angiotensin converting enzyme gene. (molvis.org)
A homozygous inherited deletion of either gene leads to absence of enzyme activity in affected individuals, and those lacking more than one detoxifying gene are at the highest risk for diseases caused by environmental factors. (wayne.edu)
The enzyme flavohemoglobin, coded by the hmp gene, is involved in protecting bacterial cells from the toxic effects of NO and represents a potentially interesting target for development of novel treatment concepts against resistant uropathogenic bacteria. (biomedcentral.com)

Notable exceptions are the tilted and tilted head mouse mutants, having only one identified phenotypic defect, the absence of otoconia, and 100% penetrance. (nih.gov)

In addition, synergistic effects were observed for body length and weight, suggesting possible compensatory mechanisms for the absence of either inhibitor. (diabetesjournals.org)

This group of SOX genes regulate neural progenitor identity. (wikipedia.org)

Moreover, the breakpoint in the Ig gene to which MYC is transferred in eBL occurs at the V(D)J region, suggesting that translocation occurs during V(D)J recombination. (bmj.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)

E. coli strain DH5a was the test micro-organism for horizontal gene transfer. (gmwatch.org)
Deletion of protein-U resulted in a mutant strain that expressed a much-reduced amount of dimeric LH1-RC, implying key roles for protein-U in stabilization of the dimeric form of LH1-RC complex 6 . (nature.com)
Furthermore, there is an absence of transcription for mitochondrial-encoded COX genes and the fivefold deletion strain cannot utilize nonfermentable carbon source such as glycerol. (uni-tuebingen.de)

sub.2 -microglobulin gene is inactivated for reducing or eliminating Class I MHC antigens. (justia.com)

Duchenne disease is caused by a deletion of the gene coding for dystrophin. (peertechzpublications.org)
The absence of dystrophin would cause progressive damage to myofibers with each muscle contraction [16]. (peertechzpublications.org)

Insect-resistant maize line CG00526-176 contains three bacterial genes: the cry1A(b) specific to lepidopterans, the bar gene conferring tolerance to glufosinate, and a bla gene encoding TEM-1 b-lactamase (ampicillin resistance). (gmwatch.org)

Subject B has a smaller deletion that does not remove BDNF. (medscape.com)

Genes deregulated in high risk tumors showed opposite changes upon treatment suggesting a positive effect of retinoids. (uni-wuerzburg.de)

The deficiency of valencene production in some mandarins is probably due to a 12-nucleotide deletion in the promoter region of the Cstps1 , which could be a crucial switch of Cstps1 transcription. (biomedcentral.com)
This disorder is characterized by the absence of a bone called the radius in each forearm and a shortage (deficiency) of blood cells involved in clotting (platelets). (medlineplus.gov)

Testing is performed by sequencing the entire coding region of the GCM2 gene. (nemours.org)
Despite normal results from previous testing, exome sequencing with copy number variation analysis led to the identification of the deletion. (bvsalud.org)

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)

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)

In 80-85% of cases the deletion is new ( de novo ). (rug.nl)

Unlike classical lung adenocarcinoma, the primary driver genes implicated in SMARCA4-dNSCLC, as revealed by molecular detection tests, primarily involve SMARCA4, TP53, KRAS and STK11 , while the more commonly associated driver genes like EGFR, ALK and ROS1 show no marked association ( 1 ). (spandidos-publications.com)

Using state-of-the-art fate-mapping models and genetic and pharmacological targeting approaches, the authors provide solid evidence that the absence of resident macrophages do not influence infarct size but instead alter the immune cell crosstalk in response to injury. (elifesciences.org)
The evidence for horizontal gene transfer is accumulating. (gmwatch.org)
XPC as breast cancer susceptibility gene: evidence from genetic profiling, statistical inferences and protein structural analysis. (cdc.gov)

Ku stabilizes replication forks in the absence of Brc1. (thebiogrid.org)

Anatomy19

Organisms14

Diseases25

Chemicals and Drugs62

Analytical, Diagnostic and Therapeutic Techniques and Equipment37

Psychiatry and Psychology1

Phenomena and Processes111

Disciplines and Occupations3

Technology, Industry, Agriculture1

Information Science4

Health Care1

Mutations28

Chromosome16

Mutation13

Chromosomes5

Breast and ovarian cancer susceptibility1

Candidate genes2

Immunoglobulin3

Deoxyribonucleic acid4

Encodes4

Phenotype5

Genomic2

Diagnosis1

Pathogenic1

11p133

Expression18

Protein genes1

Sequences7

Regulatory1

Breakpoints1

Presence or absence2

Proteins2

Partial1

Abnormalities1

Locus2

20,0001

Genotype3

Variants3

Polymorphic1

Modulate1

Germline3

Biallelic2

Exon3

Syndrome8

Regulation2

Developmental1

Homologous1

GSTM12

Epidermal1

Significant1

Transcription factors1

Enzyme3

Mutants1

Mechanisms1

Progenitor1

Occurs1

Isoforms1

Strain3

Antigens1

Dystrophin2

Bacterial1

BDNF1

Tumors1

Deficiency2

Sequencing2

Copy of the gene1

Regulates1

Novo1

Adenocarcinoma1

Evidence3

Replication1