Genomic genes immunoglobulin. Medical search. Frequent questions

Software Update: Interpreting Killer-cell Immunoglobulin-like Receptors from Whole Genome Sequence Data with PING. (cdc.gov)
DNA-based typing is used to identify killer cell immunoglobulin-like receptors (KIR) in individuals. (coronapathology.com)

[ 3 ] Loss of function mutations in this gene are implicated in pediatric retinoblastoma. (medscape.com)
Genes and genomes are stable, and except for rare, random mutations, are passed on unchanged to the next generation. (i-sis.org.uk)
Single-nucleotide substitutions account for 95% of the mutational events in the VH gene, with small deletions and duplications accounting for most of the remaining mutations. (lu.se)
Genomic instability, which increases the likelihood of acquiring mutations [ 3 ], is a hallmark of most cancers, including lung cancer [ 4 ], and is caused by factors such as smoking, air pollution, and radiation exposure. (biomedcentral.com)
Mutations and gene amplifications that confer drug resistance emerge frequently during chemotherapy, but their mechanism and timing are poorly understood. (babraham.ac.uk)
BML mutations thus result in defects in DNA repair and genomic instability in the somatic cells, predisposing the patients to cancer development. (medscape.com)
The BLM mutations can be found in compound heterozygous forms, homozygous forms, or as single gene mutation forms. (medscape.com)
Over 60 mutations of the BLM gene have been found in Bloom syndrome. (medscape.com)
Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. (nih.gov)
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
Mutations in the CTLA-4 gene have been associated with various autoimmune diseases, such as systemic lupus erythematosus, insulin-dependent diabetes mellitus, and other autoimmune diseases. (biolegend.com)
The researchers discovered that people with the unique form of HIES had mutations in a gene called DOCK8 that led to deletions in parts of the gene. (nih.gov)
The study of inherited disorders and the genetic alterations that are responsible for their complex array of disease symptoms has often resulted in the discovery of causative genes that play a role in cancer initiation," said NCI Director John E. Niederhuber, M.D. "The disease mutations found in this study in the DOCK8 gene exemplify that kind of important finding. (nih.gov)
More than 130 mutations in the DOCK8 gene have been found to cause DOCK8 immunodeficiency syndrome (also called autosomal recessive hyper-IgE syndrome or AR-HIES). (medlineplus.gov)
Most of the mutations involved in DOCK8 immunodeficiency syndrome delete regions of DNA from the DOCK8 gene. (medlineplus.gov)
These deletions and other DOCK8 gene mutations lead to production of an abnormally short protein or production of no protein. (medlineplus.gov)
2423}. Whole-genome sequencing has ing has shown that more than half of all shown that more than half of all cases cases of MDS-MLD carry mutations in of MDS-MLD carry mutations in genes genes that are also mutated in MDS with that are also mutated in MDS with excess excess blasts and acute myeloid leukae- blasts and acute myeloid leukaemia. (who.int)

The PD-1 gene is a CD28 family member that is a member of the immunoglobulin gene superfamily. (biomedcentral.com)
CD152, also known as Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4), is a 33 kD member of the immunoglobulin superfamily. (biolegend.com)

Jawed vertebrates (gnathostomes) generate a diverse repertoire of B and T cell antigen receptors through the rearrangement of immunoglobulin V, D, and J gene fragments, whereas jawless fish (agnathans) assemble diverse lymphocyte antigen receptor genes through the genomic rearrangement of leucine-rich repeat (LRR) - encoding molecules. (scielo.br)
IMGT/3Dstructure-DB and IMGT/DomainGapAlign: a database and a tool for immunoglobulins or antibodies, T cell receptors, MHC, IgSF and MhcSF. (uni-trier.de)

Oryctolagus cuniculus V-set and immunoglobulin domain containing 1 (VSIG1), mRNA. (genscript.com)

Originally, these individuals were thought to have a variant form of hyper-immunoglobulinema E syndrome (HIES), a disorder characterized by increased levels of a class of antibodies known as immunoglobulin E, superficial and systemic bacterial and fungal infections, and atopic dermatitis, also known as eczema. (nih.gov)
For unknown reasons, a reduction of DOCK8 protein results in higher-than-normal production of an immune system protein known as immunoglobulin E (IgE), which plays a role in allergic reactions. (medlineplus.gov)

FUMA analysis identified 3 independent, significant and lead SNPs, 2 genomic risk loci and 39 genes. (preprints.org)
The antigen receptor loci are the only loci in humans to undergo programmed somatic gene modification. (lu.se)
To characterize the types of by-products of somatic hypermutation, we analyzed aberrant rearrangements involving the immunoglobulin loci in a human B-cell line (Ramos) that performs Ig V gene hypermutation constitutively during culture. (lu.se)
It will explore the macroevolution of the IG loci, by gene duplication and gene loss, in different lineages, whether positions critical for antigen-binding show evidence of balancing (maintains diversity) or directional (one allele is favoured) selection, and whether SHM complements or replicates germline diversity. (mpg.de)
Organization and genomic complexity of sheep immunoglobulin light chain gene loci. (caas.cn)

The following VSIG1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). (genscript.com)
This record is derived from a genomic sequence (NC_013690.1) annotated using gene prediction method: Gnomon. (genscript.com)
The study highlighted several mechanisms underlying species diversification, including selection acting on existing standing variation, high rates of gene duplication, novel microRNAs and rapid sequence divergence in otherwise conserved non-coding elements. (biomedcentral.com)
CTLA-4 (CD152) is similar to CD28 in amino acid sequence, structure, and genomic organization. (biolegend.com)

The patient received intravenous immunoglobulin and vitamin A. The rash resolved after ≈8 days. (cdc.gov)

and an ectopic insertion into the VH from chromosome I. The results support the proposal that aberrant antibody hypermutation can lead to gross genomic alterations but indicate that such events are rare. (lu.se)
The gene is one of three related gene family members located on chromosome 1. (nih.gov)
This translocation involves the immunoglobulin heavy-chain gene on chromosome 14 and the BCL1 locus on chromosome 11. (medscape.com)
Microarray oligonucleotide comparative genomic hybridization (aCGH) (Agilent, Santa Clara, CA, USA) was performed in all patients to identify size and location of chromosome 18 deletion. (nih.gov)
For example, the TP53 gene, located on chromosome 17, encodes a 53-kd nuclear protein that functions as a cell cycle checkpoint. (medscape.com)
The human PD-1 gene is located on chromosome 2 at band q37, and the full length PD-1 cDNA is 2,106 nucleotides long and encodes a predicted protein of 288 amino acid residues. (biomedcentral.com)

The extracellular sequences of RON contain several domains including an N-terminal semaphorin (sema) domain, followed by the plexin, semaphorin, integrin (PSI) domain, and four immunoglobulin, plexin, transcription factor (IPT) domains. (spandidos-publications.com)

Subsequent gene rearrangement within the duplicated cluster likely resulted in the presence of the germline VDJ and the deletion of intervening V, D and J segments. (aminer.cn)
In order to determine whether this high production rate is related to a clonal B cell expansion, the rearrangement of the Ig genes was investigated by Southern blot analysis of genomic DNA extracted from the peripheral blood lymphocytes of four NCG patients. (aai.org)

In addition, these alterations affect 3 principal categories of genes, as follows: proto-oncogenes, tumor suppressor genes, and DNA repair genes. (medscape.com)
These abnormalities result in significant alterations in gene expression related to cell proliferation, apoptosis, migration and immune signaling pathways. (spandidos-publications.com)
Furthermore, we discuss recent findings on EBV associated gastric carcinogenesis by focusing on the roles of latent genes, epigenetic abnormalities, genomic alterations, and post-transcriptional regulation by cellular and viral microRNAs (miRNAs). (spandidos-publications.com)
The chromosomal localization of genes was improved, and Human Genome Variation Society (HGVS) notation was used throughout for translocations, insertions, and other gene alterations. (who.int)

Acquired characters are not inherited, as germline genes are not influenced by the environment. (i-sis.org.uk)
Until recently, the naïve repertoire generated from germline genes was seen to simply provide scaffolds on which SHM could operate to generate a successful immune response. (mpg.de)

Nakauchi, H., Isolation and characterization of the gene for the murine T cell differentiation antigen and immunoglobulin-related molecule, Lyt-2. (riken.jp)

Two structurally-related genomic clusters of catfish immunoglobulin heavy chain gene segments are known. (aminer.cn)

The molecular consequence of translocation is overexpression of the protein cyclin D1 (coded by the PRAD1 gene located close to the breakpoint). (medscape.com)
However, the impact of molecular features associated with genomic instability on the tumor microenvironment (TME) has not been well characterized. (biomedcentral.com)
Abnormalities in transcriptional and post-transcriptional regulation are related to genomic instability, suggesting the potential of molecular markers as a quantitative measure of genomic instability [ 7 ]. (biomedcentral.com)
Nakauchi, H., Molecular cloning of Lyt-2, a membrane glycoprotein marking a subset of mouse T lymphocytes: molecular homology to its human counterpart, Leu-2/T8, and to immunoglobulin variable regions. (riken.jp)
Genomic or molecular detection confirms the presence of viral DNA. (limelightexperience.com)

Recent advances in both germline inference and genomic long-read sequencing of immunoglobulins (IG) have revealed extensive variability of germline variable (V), diversity (D), joining (J), and constant (C) genes between individuals, populations and species. (mpg.de)
Within an individual, these genes are the substrate for the generation of diversity by V(D)J recombination and by gene conversion, and for the rapid adaptive processes mediated by somatic hypermutation (SHM) that drive affinity maturation. (mpg.de)

Over 89% of patients presented with at list one type of immunoglobulin (IgA, IgM, IgG, IgE, and IgG 1-4 ) deficiency and eight of 25 (32%) had abnormalities in at least two major immunoglobulin (IgG, IgA, IgM) measurements (CVID-like phenotype). (nih.gov)

Structural organization of the immunoglobulin heavy chain locus in the channel catfish: the IgH locus represents a composite of two gene clusters. (aminer.cn)
In addition, the possibility of aberrant gene rearrangements was supported by noting the alteration of the c-myc gene locus in genomic DNA from peripheral blood leukocytes of VI and CH. Northern blot analysis of RNA isolated from peripheral blood B cells of VI and CH demonstrated aberrant transcripts of the c-myc gene, showing an active role of the altered c-myc locus. (aai.org)
The findings of this study highlight further ethnic variation at the FCGR gene locus, in particular for FCGR2C, a gene with increasingly recognized clinical significance. (cusabio.com)

Bloom syndrome (congenital telangiectatic erythema) is caused by a mutation in both alleles of the gene designated BLM, traced to band 15q26.1. (medscape.com)

Shimeld, S.M. (2022): Hmx gene conservation identifies the origin of vertebrate cranial ganglia. (uibk.ac.at)

analyzed the gene expression profiles of 48 breast cancer specimens and identified 12 genes characterized by genomic instability [ 8 ]. (biomedcentral.com)
This article briefly discusses tumor suppressor genes and then focuses on the role of proto-oncogenes in childhood cancer. (medscape.com)
gene fusions are found at a lower frequency in radiation-associated papillary thyroid cancer (14.5%)43 in adult patients and papillary thyroid cancer (26%)35 and Spitzoid tumours (16%)16 in paediatric or adolescent patients. (researchtoactionforum.org)

Its progression is characterized by genomic instability. (biomedcentral.com)
In turn, the level of genomic instability affects the prognosis and immune status of patients with LUAD. (biomedcentral.com)
In addition, the effect of the genes related to genomic instability in LUAD on individualized treatment of LUAD is unknown. (biomedcentral.com)
A genetic signature associated with genomic instability (GSAGI) was constructed by univariate Cox regression, Lasso regression, and multivariate Cox regression analysis. (biomedcentral.com)
This study confirms that genes related to genomic instability can affect the prognosis and immune status of LUAD patients. (biomedcentral.com)
established a gene tag of seven genes associated with genomic instability that could predict the prognosis of patients with LUAD [ 9 ]. (biomedcentral.com)
The genomic instability is crucial for the occurrence and development of lung adenocarcinoma. (biomedcentral.com)
It is necessary to explore further the effects of genes derived from genomic instability on the progression of LUAD. (biomedcentral.com)
Owing to the genomic instability present in this disease, patients with Bloom syndrome show a much higher incidence of malignant neoplasms, which is the major cause of death in such patients. (medscape.com)
The overall result of the genomic instability in the proliferating cells is a high risk of malignancy, reduced fertility or infertility, B- and T-cell immunodeficiencies, and cutaneous manifestations, including photosensitivity, poikiloderma, and telangiectatic erythema. (medscape.com)

1975). "[The primary structure of a monoclonal IgM-immunoglobulin (macroglobulin Gal. (wikipedia.org)
Aberrant immunoglobulin and c-myc gene rearrangements in patients with nonmalignant monoclonal cryoglobulinemia. (aai.org)
The status of the immunoglobulin (Ig) genes was investigated in patients with idiopathic nonmalignant monoclonal IgG cryoglobulinemia (NCG). (aai.org)

Although aberrant V(D)J integration and class switch recombination can both give rise to chromosomal translocations, a role for somatic hypermutation in such genomic rearrangements has been suggested but is less clearly established. (lu.se)

Background: Immunoglobulin A nephropathy (IgAN) is a complex autoimmune disease, and the exact pathogenesis remains to be elucidated. (preprints.org)
Results: Using the CAGE eQTL data, our SMR analysis identified 32 probes tagging 25 unique genes that were pleiotropically/potentially causally associated with IgAN, with the top three probes being ILMN_2150787 (tagging HLA-C, PSMR=2.10×10-18), ILMN_1682717 (tagging IER3, PSMR=1.07×10-16) and ILMN_1661439 (tagging FLOT1, PSMR=1.16×10-14). (preprints.org)
A hallmark of immunoglobulin A nephropathy (IgAN) is episodes of gross hematuria coinciding with mucosal infections that can represent the disease-triggering event. (uniba.it)
Here we performed a whole genomic screen of IgAN patients during gross hematuria to clarify the link between mucosal antigens and glomerular hematuria. (uniba.it)

We discuss associated epigenetic and genome conformation changes elicited by the lamin A R482W mutation at the gene level. (frontiersin.org)
This effect is accompanied by epigenetic changes involving histone post-translational modifications at the mineralocorticoid receptor (MR) gene and decreased MR expression in the hippocampus. (nature.com)
These findings highlight the beneficial impact that early adverse experiences can have in adulthood, and the implication of epigenetic modes of gene regulation. (nature.com)
This is accompanied by epigenetic changes at the mineralocorticoid receptor (MR) gene and decreased MR expression, that can be mimicked in vivo by pharmacological blockade of MR. These findings highlight the potential adaptive benefit of adverse experiences in early life, and implicate a stress hormone receptor and its epigenetic regulation. (nature.com)
Global CpG island hypermethylation, which induces epigenetic silencing of tumor suppressor genes, is also a unique feature of EBVaGC and is considered to be crucial for its carcinogenesis. (spandidos-publications.com)

Tumor suppressor genes encode proteins that normally provide negative control of cell proliferation. (medscape.com)
As the proteins catalyze all the biochemical reactions in our body, the implication is that the genes ultimately control and determine all the characteristics of the organism. (i-sis.org.uk)
Like Rb protein, many of the proteins encoded by tumor suppressor genes act at specific points in the cell cycle. (medscape.com)
DNA-dependent protein kinase catalytic subunit (DNA-PKcs), encoded by PRKDC gene, is a member of the phosphatidylinositol 3-kinase-related kinase (PIKK) family, which also includes the two DNA damage repair proteins, ataxia telangiectasia mutated (ATM) and ATM and Rad3-related protein (ATR). (molcells.org)
The gene encoding these proteins is FANCM . (medscape.com)
The DOCK8 gene provides instructions for making a member of the DOCK family of proteins. (medlineplus.gov)

In three of four (VI, BR, and CH) clonal expansion of B cells was detected using probes specific for the c kappa, JH, c gamma 4 genes (in accordance with detecting IgG kappa cryoproteins in these patients). (aai.org)
Receptor for the Fc region of complexed immunoglobulins gamma. (cusabio.com)
IMGT/GeneInfo: T cell receptor gamma TRG and delta TRD genes in database give access to all TR potential V(D)J recombinations. (uni-trier.de)

L1 is a transmembrane adhesion molecule with extracellular immunoglobulin and fibronection III-like domains ( Schachner, 1991 ). (jneurosci.org)

GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
5. Qin T, Zhu H*, Wang D, Hao H & Du W. Genomic organization and expression of immunoglobulin genes in the chinese hamster (Cricetulus griseus). (caas.cn)
This nucleoplasmic lamin A environment tends to be euchromatic, suggesting distinct roles of lamin A in the regulation of gene expression in peripheral and more central regions of the nucleus. (frontiersin.org)
TP53 activates the expression of genes involved in apoptosis, cell cycle regulation (p21), and MDM2. (medscape.com)
Selumetinib causes long-term G1 arrest accompanied by reduced expression of DNA replication and repair genes, but cells stochastically re-enter the cell cycle during treatment despite continued repression of pERK1/2. (babraham.ac.uk)
Furthermore, post-transcriptional gene expression regulation by cellular and/or EBV-derived microRNAs has attracted considerable attention. (spandidos-publications.com)
How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)

There are two kinds of tests necessary for a complete picture of your COVID-19 coronavirus infection status: genetic and immunoglobulin. (hdkino.org)

IMGT/GENE-DB: a comprehensive database for human and mouse immunoglobulin and T cell receptor genes. (jax.org)

We detected all 3 genomic targets: the nucleoprotein, hemagglutinin, and large protein genes. (cdc.gov)

Additionally, they did not depend on viral deoxyribonucleic acid (DNA)-sensing pathways, including the cyclic GMP-AMP synthase- -stimulator of interferon genes (cGAS-STING) pathway that detects the presence of viral cytosolic double-stranded DNA (dsDNA). (worldmedicinefoundation.com)

To predict the most promising candidate genes, we used the ENDEAVOUR-a free web resource for gene prioritization. (nih.gov)
Using pre-clinical models and the most advanced technologies for genomic analysis, Casola's team has recently identified about a hundred novel candidate genes implicated in the development of lymphomas. (armeniseharvard.org)

Germline V, D, and J genes serve as the foundation for the establishment of a diverse B cell receptor repertoire that is critical to the adaptive immune response. (mpg.de)
H. What are key gene regulatory networks that define specific cell types and stages of differentiation during the primary B cell response? (mpg.de)
This finding suggested the presence of additional nonsecretory B cell clones and/or disruption of the gene segments spanned by and detected with the probes. (aai.org)
Inactivation of tumor suppressor genes, whose products normally provide negative control of cell proliferation, contributes to malignant transformation in various cell types. (medscape.com)
Another important class of tumor suppressor genes involved in cell cycle control and in the generation of human cancers is the cyclin-dependent kinase (CDK) inhibitors. (medscape.com)
Our findings demonstrate that acquisition of MEK inhibitor resistance often occurs through gene amplification and can be suppressed by impeding cell cycle entry in drug. (babraham.ac.uk)
This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. (nih.gov)
Such findings, combined with ongoing investigations on the role of the immunoglobulin receptor in cancerous B cells, are expected to improve diagnostics and prognostics of human B cell malignancies. (armeniseharvard.org)

Using a technique called comparative genomic hybridization, a process by which large amounts of DNA are fixed to a computer chip and analyzed for changes in the genes, scientists examined the genes in the tissue samples from five different groups: the 11 individuals with the unknown immunodeficiencies, people with the variant form of HIES, people with classic HIES, those with other immunological diseases, and healthy individuals. (nih.gov)

MV quantitative reverse transcription PCR detected all 3 genomic targets. (cdc.gov)

This gene encodes a protein that plays an important role in the immune response. (nih.gov)

Modulated genes showed a clear involvement of the intracellular interferon signaling, antigen-presenting pathway, and the immunoproteasome. (uniba.it)

A high frequency of gene fusions have been identified in mammary analogue secretory carcinomas (90%C100%)11 and secretory breast carcinomas ( 90%)12 in adult patients, and in infantile fibrosarcomas (91%C100%),34 other mesenchymal tumours (100%)41 and congenital mesoblastic nephromas (83%)42 in paediatric patients. (researchtoactionforum.org)

Such DNA constructs, when electroporated in fertilised eggs, produce transiently transgenic embryos and allow rapid gene functional and gene regulatory analyses , in precisely identifyable tissue precursors, from earliest embryonic stages in vivo . (uibk.ac.at)

The first gene cluster contains DH and JH segments, as well as the C region exons encoding the functional Cμ. (aminer.cn)
The second gene cluster contains multiple VH gene segments representing different VH families, a germline-joined VDJ, a single JH segment, and at least two pseudogene Cμ exons. (aminer.cn)
The PD-1 gene is encoded by five exons (EX1-EX5). (biomedcentral.com)

The human PD-1 and mPD-1 genes share 70% homology at the nucleotide level and 60% homology at the amino acid level. (biomedcentral.com)

Genes and genomes cannot be changed directly in response to the environment. (i-sis.org.uk)
Here, we identified RON genes from 14 vertebrate genomes and found that RON exists in all types of vertebrates including fish, amphibians, birds and mammals. (spandidos-publications.com)

The fully sequenced genome, since compact and unduplicated, gives acces to regulatory DNA segments, isolated for reporter gene essays in vivo . (uibk.ac.at)
It was not known whether these gene clusters were linked, nor was the organization or the location of VH segments associated within the first gene cluster known. (aminer.cn)
however, no VH gene segments that hybridized with the VH specific probes were detected downstream of the functional Cμ. (aminer.cn)

Although carcinogenic roles for the INK4B, INK4C, INK4D, CIP1, KIP1, and KIP2 genes appear to be limited, INK4A is among the most commonly mutated genes in human tumors. (medscape.com)

RB1 encodes the protein pRB and was the first tumor suppressor gene to be molecularly defined. (medscape.com)
[ 1 ] His prediction was subsequently supported by the cloning of the retinoblastoma tumor suppressor gene ( RB1 ) and by functional studies of the retinoblastoma protein, Rb. (medscape.com)

1993). "Disulfide bond assignment in human J chain and its covalent pairing with immunoglobulin M.". Biochemistry. (wikipedia.org)
The human RON gene was originally cloned from keratinocytes ( 1 ). (spandidos-publications.com)
Conserved transcription factor-binding sites within promoter regions of human RON genes were then searched. (spandidos-publications.com)
Finally, it will discuss human therapeutic opportunities arising from non-conventional IG genes of non-human species. (mpg.de)
Human immunoglobulin C(mu) and C(delta) heavy chain genes (constant regions). (lu.se)

We observed biased matrix-gene hypermutation consistent with persistent measles virus central nervous system infection. (cdc.gov)

We also find that duplicated regions show enrichment for genes associated with "antigen processing and presentation" and other immune related categories. (biomedcentral.com)
Bloom syndrome patients also demonstrate impairment in lymphocytic proliferation, deficient immunoglobulin synthesis, and lowered response to mitogen stimulation, resulting in impairment of both cellular and humoral immune responses. (medscape.com)

Anatomy18

Organisms10

Diseases23

Chemicals and Drugs85

Analytical, Diagnostic and Therapeutic Techniques and Equipment36

Phenomena and Processes92

Disciplines and Occupations2

Information Science6

Health Care4

Killer-cell Immunoglobulin-like Receptors2

Mutations17

Member of the immunoglobulin2

Receptors2

MRNA1

Known as immunoglobulin2

Loci5

Sequence4

Intravenous immunoglobulin1

Chromosome6

Sequences1

Rearrangement2

Alterations4

Germline genes2

Characterization1

Heavy-chain gene1

Molecular5

Diversity2

Abnormalities1

Locus3

Alleles1

20221

Cancer3

Instability10

Monoclonal3

Somatic1

IgAN4

Epigenetic5

Proteins6

Gamma3

Extracellular1

Expression7

Genetic1

IMGT1

Protein genes1

Viral1

Candidate genes2

Cell8

Comparative1

Quantitative1

Encodes a protein1

Pathway1

Fusions1

Tissue1

Exons3

Amino1

Genomes2

Segments3

Commonly1

Tumor supp2

Human5

Hypermutation1

Immune2