Mutations gene family encode. Medical search. Frequent questions

This gene encodes a member of the kinesin family of proteins. (antibodies-online.com)
The ROR2 protein is part of a family of proteins known as receptor tyrosine kinases (RTKs), which play a role in chemical signaling within cells. (medlineplus.gov)
This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. (caslab.com)
We study genes, proteins and signaling pathways that might be essential for RGC and optic nerve development, function, survival, and regeneration. (nih.gov)
We are particularly interested in genes encoding olfactomedin domain-containing proteins. (nih.gov)
The family of olfactomedin domain-containing proteins is one of the main areas of our research. (nih.gov)
Some family members, such as latrophilins and gliomedin, are membrane-bound proteins containing the olfactomedin domain in the extracellular N-terminal region, while the intracellular C-terminal domain of these proteins is essential for the transduction of extracellular signals to the intracellular signaling pathway. (nih.gov)
Several genes encoding olfactomedin domain-containing proteins are expressed in the eye. (nih.gov)
In humans, the AE family (also called the SLC4 family) is composed of 10 paralogous members, among which are the proteins that perform Na + -independent Cl-HCO 3 - exchange (e.g. (tcdb.org)
Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. (thermofisher.com)
The Popeye domain containing (POPDC) genes encode sarcolemma-localized cAMP effector proteins. (imperial.ac.uk)
virtually every tissue expresses at least one family member, consistent with a critical role for TEAD proteins in either cell proliferation or differentiation. (embl-heidelberg.de)
These mutations in MUC22 are technically termed 'missense' variants, DNA changes that result in different amino acids being encoded at particular positions in the resulting proteins. (indiatimes.com)

Two brothers from a German family affected with USH1G were found to be compound heterozygotes for a frameshift and a missense mutation. (nih.gov)
Sanger sequencing of the entire coding region and the intron-exon junctions of the HMGCL gene identified a recurrent missense mutation in exon 2. (academicjournals.org)
A single missense mutation allows AE1 to mediate both electrogenic SO 4 2- -Cl - exchange or electroneutral, H + -independent SO 4 2- -SO 4 2- exchange ( Alper 2006 ). (tcdb.org)
Nine families carried an identical alteration consisting of the insertion of arginine at position 113 of p16(INK4a), and one carried a missense mutation, in which the valine at position 115 was replaced with a glycine. (lu.se)

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. (nih.gov)
Mutations in HMG-CoA lyase cause HMG-CoA lyase deficiency (HMGCLD), which is an autosomal recessive congenital disorder of metabolism. (academicjournals.org)
Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes. (medscape.com)
At least 20 mutations in the ROR2 gene have been found to cause the autosomal recessive form of Robinow syndrome, a condition that affects the development of many parts of the body, particularly the bones. (medlineplus.gov)
Autosomal recessive inheritance means both copies of the gene in each cell have mutations. (medlineplus.gov)
Afzal AR, Jeffery S. One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. Hum Mutat. (medlineplus.gov)
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations. (medlineplus.gov)
Mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation. (antibodies-online.com)
We have recently mapped a gene for the autosomal recessive form of WMS to chromosome 19p13.3-p13.2, in a 12.4-cM interval. (nih.gov)
Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. (thermofisher.com)
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): Phenotype-genotype correlations in 13 Moroccan families. (mda.org)
OMIM 240300), is an autosomal recessive disorder caused by mutations causing loss of function of the autoimmune regulator (AIRE) protein 1 . (ersjournals.com)
Drs. Martignetti and Adel Shalata, of the Ziv Medical Center Safed, Israel, and their team analized a large Israeli Arab family affected by autosomal-recessive morbid obesity and identified a truncating mutation in the gene that recently was found to encode CEP19, a ciliary protein. (eurekalert.org)
Biallelic PARS2 or NARS2 mutations are reported to cause Alpers' syndrome, which is an autosomal recessive neurodegenerative disorder characterized by psychomotor regression and epilepsy with variable degree of liver involvement. (bvsalud.org)

This gene encodes a mitochondrial solute carrier protein family member. (nih.gov)
As noted above, the AE or solute carrier 4 (SLC4) family includes 10 members (SLC4A1-5, SLC4A7-11), which are expressed in multiple tissues in the human body. (tcdb.org)

Mutation of FUL1 could partially restore inflorescence-branching phenotypes caused by high STM3 expression in ST024. (nature.com)
These mutant phenotypes correlate with markedly reduced expression of the early zygotic genes serendipity alpha , fushi tarazu and huckebein , which are essential for cellularization and embryonic patterning (Tang, 2001). (sdbonline.org)
Scherer and his colleagues noted that about 60 percent of these 61 autism-risk genes were associated with syndromes or phenotypes, typically related to intellectual disability, in the Online Mendelian Inheritance in Man database. (genomeweb.com)
Moreover, it is known that NARS2 mutations cause various clinical phenotypes, including non-syndromic hearing loss, Leigh syndrome, intellectual disability with epilepsy and severe myopathy. (bvsalud.org)
Finally, it seems appropriate to consider the "sodium channel syndrome" (mutations in the gene of the α subunit of the sodium channel, SCN5A gene) as a single clinical entity that may manifest in a wide range of phenotypes, to thus have a better insight on these cardiac syndromes and potential outcomes for their clinical treatment. (bvsalud.org)

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. Braunisch MC, et al . (nih.gov)
Because these genetic changes prevent any functional ROR2 protein from being made, they are described as "loss-of-function" mutations. (medlineplus.gov)
By focusing on the X chromosomes of affected males, the researchers noted an additional seven genes with multiple loss-of-function mutations. (genomeweb.com)

Probable ATP-dependent RNA helicase DDX41 is an enzyme that in humans is encoded by the DDX41 gene. (wikipedia.org)
In humans, mutations affecting the genes of this family are associated with specific diseases. (sdbonline.org)
Loss of neuronal function due to diabetes is reversed in rats and humans using a novel gene therapy approach. (hum-molgen.org)
Calpain-3 is a protein that in humans is encoded by the CAPN3 gene . (wikidoc.org)
This gene is shown to be present not only in humans and mice but also in the simplest known single-cell animal. (eurekalert.org)
New research shows that inactivating mutations in ANGPT2 are associated with primary lymphedema in humans. (genengnews.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)

They found that 15 of these harbored heterozygous H3.3 mutations (either K27M, G34R or G34V) and 14 had a mutation in ATRX that was associated with a lack of detectable ATRX protein. (genengnews.com)
Two of the samples displayed heterozygous mutations in DAXX, which codes for a protein that heterodimerizes with ATRX and is involved in H3.3 recruitment to DNA. (genengnews.com)
one heterozygous de novo ANGPT2 whole-gene deletion and four heterozygous ANGPT2 missense mutations. (genengnews.com)
The mother was heterozygous for this mutation. (bvsalud.org)
All of the parents were heterozygous carriers of this mutation. (who.int)

In two consanguineous USH1G-affected families, we detected two different frameshift mutations in the SANS gene. (nih.gov)
These consequences can range from benign (e.g. synonymous mutations) to catastrophic (e.g. frameshift mutations), with regard to protein production, composition, and function. (genengnews.com)

Researchers for the St. Jude Children's Research Hospital-Washington University Pediatric Cancer Genome Project simultaneously reported data from exon sequencing studies demonstrating that 78% of DIPGs and 22% of nonbrainstem pediatric glioblastomas (non-BS-PGs) harbor somatic mutations in H3F3A or in the related gene HIST1H3B, which encodes H3.1. (genengnews.com)
Complete ophthalmic examinations were conducted on two boys and two girls from two related Hutterite families diagnosed with Usher syndrome type I. DNA from patients and their parents was first evaluated for a mutation in exon 10 of the protocadherin-related 15 ( PCDH15 ) gene (c.1471delG), previously reported in southern Alberta Hutterite patients with Usher syndrome (USH1F). (molvis.org)
Here, we describe two Hutterite families from northern Alberta with Usher syndrome type I who did not carry a mutation in exon 10 of PCDH15 but did carry a mutation in exon 3 of the myosin VIIA ( MYO7 A) gene, providing evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I. (molvis.org)
METHODS: : The entire CDKN2A coding region and exon 2 of the CDK4 gene of an affected member of each of 52 families from southern Sweden with at least two cases of melanoma in first- or second-degree relatives were screened for mutations by use of polymerase chain reaction-single-strand conformation polymorphism analysis. (lu.se)
We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp (155-166 del) deletion within the tubulin-specific chaperone E ( TBCE gene) in exon 3 at 1q42-43. (who.int)
All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. (who.int)
Exons 2 (first coding exon), 3 (second cod- and Kuwait: the incidence in Saudi Ara- ing exon) and 12 of the TBCE gene were bia varies from 1:40 000 to 1:100 000 live chosen for the initial screening as they were births [ 6 ]. (who.int)

Smoking-related tumors featured TP53 mutations, CDKN2A inactivation, and frequent copy number alterations. (cancer.gov)
Recent research has classified lung adenocarcinoma patients with KRAS mutation into three subtypes by co-occurring genetic events in TP53 (KP subgroup), STK11/LKB1 (KL subgroup) and CDKN2A/B inactivation plus TTF-1 low expression (KC subgroup). (cancerindex.org)
Five out of eight cases (63%) displayed cyclin-dependent kinase inhibitor 2A (CDKN2A) abnormalities, either copy number loss (n = 4) or truncating mutations (n = 1). (lu.se)
All four cases with loss of the CDKN2A locus (encoding p16 and p14arf) also exhibited loss of the neighboring CDKN2B gene (encoding p15ink4b), and displayed reduced CDKN2A/2B mRNA levels. (lu.se)
BACKGROUND: : Inherited mutations in the CDKN2A tumor suppressor gene, which encodes the p16(INK4a) protein, and in the cyclin-dependent kinase 4 (CDK4) gene confer susceptibility to cutaneous malignant melanoma. (lu.se)
We analyzed families with two or more cases of melanoma for germline mutations in CDKN2A and CDK4 to elucidate the contribution of these gene defects to familial malignant melanoma and to the occurrence of other cancer types. (lu.se)
RESULTS: : CDKN2A mutations were found in 10 (19%) of the 52 families. (lu.se)
0001). Families with breast cancer also had a propensity for multiple melanomas in females, suggesting that a sex-dependent factor may modify the phenotypic expression of CDKN2A alterations. (lu.se)
CONCLUSIONS: : Our findings confirm that the majority of CDKN2A-associated melanoma families in Sweden are due to a single founder mutation. (lu.se)
They also show that families with the CDKN2A 113insArg mutation have an increased risk not only of multiple melanomas and pancreatic carcinoma but also of breast cancer. (lu.se)

Based on studies in Drosophila, the abstrakt gene is widely required during post-transcriptional gene expression. (wikipedia.org)
Over the past several years, we have developed approaches, including high-throughput genomic sequencing, serial analysis of gene expression (SAGE), and a novel method called digital karyotyping, to elucidate the genetic and gene expression differences important in neoplasia. (pewtrusts.org)
Involvement of nutrients and nutritional mediators in mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase gene expression. (genscript.com)
Almost half of the genes expressed in adults showed reduced expression, supporting a broad role for the three tested genes in steady-state transcript abundance. (sdbonline.org)
Genes showing reduced expression due to these RNAi treatments were short and enriched for genes encoding metabolic or enzymatic functions. (sdbonline.org)
Hundreds of genes were observed with sex-biased differential expression following treatment. (sdbonline.org)
Olfactomedin 1 (Olfm1) and the closely related genes Olfactomedin 2 (Olfm2) and Olfactomedin 3 (Olfm3) show overlapping expression patterns demonstrating preferential expression in the developing and adult neuronal tissues. (nih.gov)
SLC4 family members differ in their substrate dependence, charge transport stoichiometry, and tissue expression. (tcdb.org)
In melanocytic cells CAPN3 gene expression may be regulated by MITF . (wikidoc.org)
Hes genes also display an oscillatory expression pattern and control the timing of biological events, such as somite segmentation. (biologists.com)
This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. (thermofisher.com)
In addition, gene expression data implicating the oestrogen-metabolising enzyme CYP1B1 suggests a detrimental role of oestrogens or oestrogen metabolites. (ersjournals.com)
Scope includes mutations and abnormal protein expression. (cancerindex.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)
Regulation of gene expression at the beginning of mammalian development and the TEAD family of transcription factors. (embl-heidelberg.de)
Thus, the onset of zygotic gene expression (ZGE) is regulated at the level of both transcription and translation. (embl-heidelberg.de)
PARN is an extensively characterized exonuclease with deadenylation activity that controls mRNA stability in part and therefore regulates expression of a large number of genes. (jci.org)
Lentiviral (LV) vectors of the Retroviridae family show interesting properties for monogenic gene therapy, since they integrate into the host genome and allow long-lasting gene expression 22 . (nature.com)
Transient expression studies of subcellular localization in COS-7 cells showed that compared to the wild-type protein, the transport of the mutant protein into the nucleus was inhibited, thus confirming K209N as a molecular lesion in this family. (bvsalud.org)
Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP. (lu.se)
If expression of a trait requires only one copy of a gene (one allele). (msdmanuals.com)
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)

Here, we generated cardiomyocytes from iPSCs derived from patients in a DCM family carrying a point mutation (R173W) in the gene encoding sarcomeric protein cardiac troponin T. Compared to control healthy individuals in the same family cohort, cardiomyocytes derived from iPSCs from DCM patients exhibited altered regulation of calcium ion (Ca(2+)), decreased contractility, and abnormal distribution of sarcomeric alpha-actinin. (ca.gov)

The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. (thermofisher.com)
Mutations in genes encoding aminoacyl-tRNA synthetases cause gene-specific mitochondrial disorders. (bvsalud.org)

Wolach B, Scharf Y, Gavrieli R, de Boer M, Roos D. Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB. (medscape.com)
An international consortium led by researchers at McGill University sequenced the exomes of 48 pediatric GBM samples and found somatic mutations in the H3.3-ATRX-DAXX chromatin remodeling pathway in 44% of tumors and recurrent H3F3A mutations in 31% of tumors. (genengnews.com)
Both teams suggest their respective works are the first to identify somatic mutations in histone H3. (genengnews.com)

The underlying genetic mutations are known in ~40% of cases and are found within genes associated with telomere maintenance and function. (jci.org)
Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)

Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease. (medscape.com)

HMGCL gene, 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMG-CoA lyase) deficiency, homozygous mutation, protein stability. (academicjournals.org)

The study is published in Science Translational Medicine in an article titled, " Characterization of ANGPT2 mutations associated with primary lymphedema . (genengnews.com)
Characterization of acute myeloid leukemia with PTPN11 mutation: the mutation is closely associated with NPM1 mutation but inversely related to FLT3/ITD. (lu.se)
Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease. (lu.se)

The human genome contains several non-transcribed pseudogenes of this gene. (origene.com)

Seven genetic loci (USH1A-G) have been implicated in this disease to date, and four of the corresponding genes have been identified: USH1B, C, D and F. We carried out fine mapping of USH1G (chromosome 17q24-25), restricting the location of this gene to an interval of 2.6 Mb and then screened genes present within this interval for mutations. (nih.gov)
This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. (caslab.com)
In particular, they analyzed a region of chromosome 6 known as the major histocompatibility complex (MHC), a polymorphic DNA segment with some 130 genes that encode many of the molecules involved in innate and acquired immune responses. (indiatimes.com)
Mutations of the PTPN11 gene in therapy-related MDS and AML with rare balanced chromosome translocations. (lu.se)
In the hypokalemic form, 70% of affected people have a mutation in the alpha-subunit of the voltage-sensitive muscle calcium channel gene on chromosome 1q (HypoPP type I). In some families, the mutation is in the alpha-subunit of the sodium channel gene on chromosome 17 (HypoPP type II). (msdmanuals.com)
disorder usually caused by mutations to the KCNJ2 gene located on chromosome 17q24.3 or, rarely, to the KCNJ5 gene. (msdmanuals.com)
Their cur- features including deep-set eyes, mi- linked to the TBCE gene on chromosome rent mean age is 5 years (range 11 crognathia, depressed nasal bridge, 1q42-43 which encodes for the tubulin- months-10 years). (who.int)
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)
Lateral gene transfers resulted in different linkages between the ospC gene and loci of the chromosome or other plasmids. (cdc.gov)

Such mechanisms may indicate how the bacterium adapts to the host, a prerequisite for an enhanced accumulation of genomic mutations associated with resistance. (cdc.gov)

Specific point mutations in human anion exchanger 1 (AE1) convert this electroneutral anion exchanger into a monovalent cation conductance. (tcdb.org)
Point mutations have a variety of effects on the downstream protein product consequences that are moderately predictable based upon the specifics of the mutation. (genengnews.com)

Genes Chromosomes Cancer 2008(1): 26-33 [ PubMed abstract ]. (lu.se)
Genes Chromosomes Cancer 2007(6): 517-21 [ PubMed abstract ]. (lu.se)
Genes Chromosomes Cancer 2006(6): 583-91 [ PubMed abstract ]. (lu.se)
ABSTRACT We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. (who.int)

Multiple transcript variants encoding different isoforms have been found for this gene. (origene.com)
Alternatively spliced transcript variants encoding different isoforms have been found for this gene. (genscript.com)
Alternative splicing results in multiple transcript variants encoding different isoforms. (caslab.com)
Two transcript variants encoding the same protein have been identified for this gene. (thermofisher.com)
Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. (wikidoc.org)
In this translational study, rare sequence variants in MKRN3 , DLK1 , KISS1 , and KISS1R genes were investigated in patients with CPP. (frontiersin.org)
In the latter analysis, the status of variants in genes known to be related with pubertal timing was compared with an in-house Cypriot control cohort (n = 43). (frontiersin.org)
Three previously described pathogenic MKRN3 variants located in the coding region of the gene were identified in 12 index girls with CPP. (frontiersin.org)
Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. (cancerindex.org)
The first was that the frequency of variants of the gene MUC22 was twice as high in the mild Covid-19 group as in severe patients, and higher still in resilient super-agers. (indiatimes.com)
The collapsing form of FSGS has long been considered a distinct entity, but in the past few decades, we have identified more than 60 genes that are of monogenetic causes, not including disease modifiers and other gene noncoding variants that might affect progression of disease. (medscape.com)

One of the more predominant mutational signatures was intimately coupled to the activity of Apolipoprotein B mRNA-editing enzyme, the catalytic polypeptide-like (APOBEC) family of cytidine deaminases implied in kataegis, a focal hypermutation phenotype, which was observed in 4/8 (50%) cases. (lu.se)

Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome. (lu.se)

Independent researchers have identified mutations in the histone H3.3-coding gene H3F3A in a large proportion of pediatric cases of gliobastoma multiforme (GBM) and diffuse intrinsic pontine glioma (DIPG), an aggressive brainstem astrocytic tumor that occurs almost exclusively in children. (genengnews.com)
This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. (cancerindex.org)

Germ line DDX41 mutations define a unique subtype of myeloid neoplasms. (wikipedia.org)
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)

The 2019 Nobel Prize in Physiology or Medicine is being awarded jointly to William G. Kaelin Jr., Sir Peter J. Ratcliffe and Gregg L. Semenza for identifying molecular machinery that regulates the activity of genes in response to varying levels of oxygen. (sciencedaily.com)
They identified molecular machinery that regulates the activity of genes in response to varying levels of oxygen. (sciencedaily.com)
A number of these novel genes were uncovered in multiple families: mutations in PHF3, which encodes a PHD finger protein that regulates transcription, were found in four families, while MED13 was mutated in three families. (genomeweb.com)

SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy. (nih.gov)
The pathogenesis of PPH is not clear but recently it has been put in a novel perspective by the demonstration of mutations in BMPR‐II (bone morphogenic protein receptor II) in a proportion of patients 5 - 7 . (ersjournals.com)
A recent study demonstrated an absence of mutations in BMPR‐II in patients with PPH and connective tissue disease, thus suggesting that PPH associated with immune deregulation may have a different pathogenesis from the familial form 13 . (ersjournals.com)
Biopsy material of patients carrying mutations in BVES were immunostained with POPDC antibodies. (imperial.ac.uk)
To this end they sequenced the H3F3A gene in 784 glioma samples of different grades and histological diagnoses and from patients of all ages. (genengnews.com)
K27M-H3.3 mutations occurred mainly in younger patients (median age 11 years, range 5-29) and thalamic GBM, whereas G34R- or G34V-H3.3 mutations occurred in older patients (median age 20 years, range 9-42). (genengnews.com)
Heart failure due to genetic mutation is one of the most common ailment and is a major contributor to the large number of patients on the heart transplant. (ca.gov)
Earlier studies have found that this disease is caused by mutation in a cardiac muscle gene call troponin T. In this study a special stem cell was generated from the skin cell of a family of patients with this mutation as well as their non-diseased sibling. (ca.gov)
Researchers collected samples from patients (and family members) suffering from primary lymphedema. (genengnews.com)
The mutations that resulted in primary lymphedema in patients provided investigators important insights into the function of the ANGPT2 protein and mechanisms that lead to lymphedema. (genengnews.com)
Collectively, these results identify a role for PARN in telomere maintenance and demonstrate that it is a disease-causing gene in a subset of patients with severe DC. (jci.org)
OBJECTIVE: To reveal a molecular lesion in the ZC4H2 gene in a Japanese family with arthrogryposis multiplex congenita (AMC) and intellectual disability (ID), and to characterize clinical features of patients with ZC4H2 gene mutations through a literature review. (bvsalud.org)
Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing. (lu.se)
Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members. (lu.se)
7 that can present with hypocalcaemia had brain imaging and skeletal survey, Parental consanguinity was reported and dysmorphic features, genetic testing and 3 patients had an ophthalmologi- in al 7 families. (who.int)
Three patients had any child presenting with hypocalcaemia diagnosed biochemically to have hy- a positive family history of the same and deep-set eyes. (who.int)
All of testing at 11 weeks of pregnancy and prenatal diagnosis of Sanjad Sakati syn- the patients were put on vitamin D the mother had undergone a selective drome in high-risk families. (who.int)

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. Nat Genet. (medlineplus.gov)

It has been shown that DDX41 germ-line mutations are associated with myelodysplastic syndrome and acute myeloid leukemia. (wikipedia.org)

This is the most frequent mutation found in the HMGCL gene in Saudi population and might have occurred due to a founder effect. (academicjournals.org)
Moreover, to determine the protein stability upon change in amino acid various tools including SDM, I-Mutant, mCSM and DUET were used and found that the mutation, identified in this family, is protein destabilizing. (academicjournals.org)
The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. (origene.com)
In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. (antibodies-online.com)
Myocilin (MYOC) was the first gene in which identified mutations were found to cause glaucoma. (nih.gov)
Characterized protein members of the AE family are found in animals, plants and yeast. (tcdb.org)
Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. (abnova.com)
Conversely, since the majority of mutations in BMPR‐II were found in familial cases of PPH, it is not clear if defects in the BMPR‐II signalling pathway are present in all cases of the disease or just in the subset showing familial aggregation 9 . (ersjournals.com)
Sir Peter Ratcliffe also studied O 2 -dependent regulation of the EPO gene, and both research groups found that the oxygen sensing mechanism was present in virtually all tissues, not only in the kidney cells where EPO is normally produced. (sciencedaily.com)
In functional analyses, they found that 80 percent of the risk genes were connected to gene networks often involved in synaptic transmission, transcriptional regulation, and RNA processing. (genomeweb.com)
All children found negative ( n = 44) for the MKRN3 gene were further investigated by whole exome sequencing (WES). (frontiersin.org)
p.Q18X) in the myosin VIIA ( MYO7A ) gene was found in the homozygous state in the affected siblings. (molvis.org)
We found that the distributions and frequencies of types of OspC genes differed between populations of B. burgdorferi in the Northeast, the Midwest, and California. (cdc.gov)

Members of both the SLC4 and SLC26 mammalian gene families encode Na + -independent Cl - -HCO3 - exchangers. (tcdb.org)
The mammalian Hes basic helix-loop-helix repressor genes play central roles in these processes by maintaining progenitor cells in an undifferentiated state and by regulating binary cell fate decisions. (biologists.com)

Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with total globozoospermia. (nih.gov)
Using these approaches, we have begun to systematically examine the colorectal cancer genome, starting with gene families involved in signal transduction. (pewtrusts.org)
Because the three genes weren't sequenced as part of the 600-gene The Cancer Genome Atlas (TCGA) Glioblastoma project, and mutations in H3F3A, ATRX, or DAXX weren't identified in another adult GBM sequencing study, the researchers wanted to see whether H3F3A mutations were indeed specific to GBM and/or pediatric cases. (genengnews.com)
As they reported today in Nature Neuroscience , Scherer and his colleagues conducted whole-genome sequencing using two different platforms on 5,205 individuals from autism-affected families. (genomeweb.com)

Analysis of the mut genes in 55 representative W-Beijing isolates suggests a sequential acquisition of the mutations, elucidating a plausible pathway of the molecular evolution of this clonal family. (cdc.gov)

HPV-negative tumors contained novel co-amplifications of 11q13 and 11q22, an event that likely promotes the interaction of BIRC2 and FADD , genes that together work to inhibit cell death. (cancer.gov)
Mutations that activate K + channels can lower cellular excitability, whereas those that inhibit K + channels may increase excitability. (jneurosci.org)
These mutations inhibit the deadenylation activity of PARN, resulting in the downregulation of 4 genes involved in telomere maintenance and shortened telomeres. (jci.org)

Some of these mutations change single protein building blocks (amino acids) in the ROR2 protein, while others lead to the production of an abnormally short, nonfunctional version of the protein. (medlineplus.gov)
Both mutations are sited at or very near the amino-terminal tail of the protein, which undergoes post-translational modifications associated with either transcriptional repression (K27) or activation (K36), the team states. (genengnews.com)
Among the identified mutations, one deletes one copy of the entire gene, whereas the four other ones are amino acid substitutions. (genengnews.com)

Here, using whole exome sequencing (WES), we have identified biallelic mutations in the gene encoding poly(A)-specific ribonuclease (PARN) in 3 families with individuals exhibiting severe DC. (jci.org)

These pathways control the activity of genes needed at specific times, and they regulate the interactions between cells as organs and tissues are forming. (medlineplus.gov)

Clinical and molecular genetic analysis of a Saudi family with five individuals affected with HMGCLD was performed by GC-MS, tandem MS and sequencing. (academicjournals.org)
Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox). (medscape.com)
Mutations in MYOC are among the most common causes of inherited eye disease with a known molecular basis. (nih.gov)
Arribas-González E, de Juan-Sanz J, Aragón C, López-Corcuera B (2015) Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia. (springer.com)

Unlike the mutations that cause Robinow syndrome (described above), the ROR2 gene mutations that cause brachydactyly type B1 are described as "gain-of-function" because they appear to cause the ROR2 protein to be continuously active. (medlineplus.gov)
Mutations in this gene result in Cornelia de Lange syndrome. (caslab.com)
Charcot-Marie-Tooth disease and sleep apnoea syndrome: A family study. (mda.org)
Beerepoot P, Lam VM, Salahpour A (2016) Pharmacological chaperones of the dopamine transporter rescue dopamine transporter deficiency syndrome mutations in heterologous cells. (springer.com)
The finding of a MYO7A mutation in two related Hutterite families from northern Alberta provides evidence of genetic heterogeneity in Hutterites affected by Usher syndrome type I. (molvis.org)
Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations. (lu.se)
Acquisition of JAK2, PTPN11, and RAS mutations during disease progression in primary myelodysplastic syndrome. (lu.se)
Il s'agit de la première série de cas du syndrome de Sanjad-Sakati confirmés génétiquement en Jordanie. (who.int)
Alport syndrome is a nephritic syndrome caused by a mutation in the COL4A3 , COL4A4 , and COL4A5 genes that encode the alpha-5 chain of type IV collagen and results in altered type IV collagen strands. (msdmanuals.com)
Mutation analysis of the TBCE gene of this syndrome was shown to be due to Polymerase chain reaction/single-strand mutations in the TBCE gene in chromosom- conformation polymorphism analysis and al area 1q42-q43 [ 4,5 ]. (who.int)

Loss of FMR2 gene transcription causes mental retardation. (sdbonline.org)
This gene encodes a member of the paired box family of transcription factors. (thermofisher.com)
All four of the samples also harbored mutations in ATRX, which encodes part of the transcription/chromatin remodeling complex involved in binding H3.3 to DNA. (genengnews.com)
The most effective enhancer in cleavage stage mouse embryos depends on DNA binding sites for TEF-1, the prototype for a family of transcription factors that share the same TEA DNA binding domain. (embl-heidelberg.de)

Mutations in established ATC-related genes were observed, including TP53, BRAF, ARID1A, and RB1, and overrepresentation of mutations were also noted in 13 additional cancer genes. (lu.se)

lilli mutations disrupt the transvection-dependent dpp phenotype and are also dominant maternal enhancers of recessive embryonic lethal alleles of dpp and screw . (sdbonline.org)

2) lilli mutation strongly suppresses the rough eye phenotype of ectopically expressed phyllopod (Tang, 2001), and (3) lilli was identified in a screen for genes that enhance the embryonic lethal phenotype of dpp alleles (Su, 2001). (sdbonline.org)
lilli zygotic mutant embryos exhibit a partially ventralized phenotype similar to dpp embryonic lethal mutations (Su, 2001). (sdbonline.org)

Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. (wikipedia.org)

Since 2020, researchers in several countries, including Brazil, have been looking for genes that confer protection against the novel coronavirus, either preventing infection or avoiding progression to severe disease, in the hope that this knowledge will make a vital contribution to the development of vaccines and treatments for viral diseases. (indiatimes.com)
In this episode, Tom Vulliamy and Hemanth Tummala discuss their work, which identifies biallelic mutations in the gene encoding poly(A)-specific ribonuclease ( PARN ) in three families with severe dyskeratosis congenita. (jci.org)

This study was designed to detect mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase ( HMGCL ) gene in a Saudi family segregating HMG-CoA lyase deficiency (HMGCLD). (academicjournals.org)
Mutations in this gene are associated with HMG-CoA synthase deficiency. (genscript.com)
Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. (origene.com)
We alter the deficiency by infecting the SFTPB deficient iPSCs with a lentivirus carrying the wild type SFTPB gene. (nature.com)

It is now known that type II relates to a mutation in a different gene, the gene for the leukemia inhibitory factor receptor ( LIFR ). (medscape.com)
Mutations in this gene are associated with an infertility disorder, spermatogenic failure type 9 (SPGF9). (nih.gov)
W-Beijing genotype strains displayed unique missense alterations in three putative mut genes, including two of the mutT type (Rv3908 and mutT2 ) and ogt . (cdc.gov)
The acquisition of mut genes may explain in part the ability of the isolates of W-Beijing type to rapidly adapt to their environment. (cdc.gov)
More than 10 mutations in the ROR2 gene have been identified in people with a disorder called brachydactyly type B1. (medlineplus.gov)
Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V. (mda.org)
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. (mda.org)
KRT18 encodes the type I intermediate filament chain keratin 18. (abnova.com)
Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. (wikidoc.org)
Familial pulmonary arterial hypertension (FPAH) is caused, in 80% of families, by autosomal dominant mutations in the gene encoding bone morphogenetic protein receptor type 2 ( BMPR2 ). (ersjournals.com)
Functional analyses revealed three missense mutations that resulted in decreased ANGPT2 secretion and inhibited the secretion of wild-type (WT)-ANGPT2, suggesting to the authors that these mutations "have a dominant-negative effect on ANGPT2 signaling. (genengnews.com)
The individuals with PARS2 and NARS2 mutations, we have reported here demonstrate similar neurological features as those previously reported, with diversity in clinical presentation such as hearing loss and seizure type. (bvsalud.org)
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)

Individuals with biallelic PARN mutations and PARN -depleted cells exhibited reduced RNA levels for several key genes that are associated with telomere biology, specifically TERC , DKC1 , RTEL1 , and TERF1 . (jci.org)

The following HMGCS2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). (genscript.com)

The literature reviews revealed postprandial hypoglycemia as a new clinical feature that should be considered in ZC4H2 gene-mutation disorders. (bvsalud.org)
Autosomal Dominant Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)

Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia. (lu.se)

By combining the data they generated with information from other large-scale studies, the researchers uncovered 54 putative autism risk genes. (genomeweb.com)

Acquisitions of OspC genes that are novel for the region confer to recipients unique identities to host immune systems and, presumably, selective advantage when immunity to existing types is widespread among hosts. (cdc.gov)

This gene encodes a protein related to the Lon protease protein family. (antibodies-online.com)
Here, we report null mutations in a member of the extracellular matrix protease family, the gene encoding ADAMTS10, a disintegrin and metalloprotease with thrombospondin motifs. (nih.gov)

One of the few antigens against which mammals develop protective immunity is the highly polymorphic OspC protein, encoded by the ospC gene on the cp26 plasmid. (cdc.gov)

Multiple in silico software predicted this mutation as disease-causing. (academicjournals.org)

The genes screened included the orthologue of the Sans gene, which is defective in the Jackson shaker deaf mutant and maps to the syntenic region in mice. (nih.gov)
By using gene-modified mice, specific DNA segments located next to the EPO gene were shown to mediate the response to hypoxia. (sciencedaily.com)
When the investigators deleted the Cep19 gene in mice, the animals became obese and diabetic and had increased appetites, decreased energy expenditure, and impaired fat metabolism. (eurekalert.org)
Mice contain at least four, and perhaps five, genes with the same TEA DNA binding domain (mTEAD genes). (embl-heidelberg.de)
Some genetic causes of primary lymphedema are known and previous studies have shown that dominant-negative mutations in angiopoietin 2 (ANGPT2) promote lymphangiogenesis in mice. (genengnews.com)

Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. (antibodies-online.com)

Several pseudogenes have been associated with this gene. (thermofisher.com)

This family contains 13 members in mammals that segregate into seven subfamilies. (nih.gov)

Anatomy15

Organisms20

Diseases8

Chemicals and Drugs61

Analytical, Diagnostic and Therapeutic Techniques and Equipment31

Phenomena and Processes123

Disciplines and Occupations3

Technology, Industry, Agriculture3

Information Science5

Named Groups2

Health Care5

Proteins13

Missense mutation4

Autosomal recessive14

Solute carrier2

Phenotypes5

Loss-of-function mutati3

Humans7

Heterozygous5

Frameshift mutations2

Exon7

CDKN2A10

Expression23

Carrying a point mutation1

Mitochondrial2

Somatic3

Genetic mutations2

Novel mutations1

Homozygous mutation1

Characterization3

Human genome1

Chromosome9

Genomic1

Point mutations2

Abstract4

Variants11

MRNA1

Germline1

Tumor2

Neoplasms2

Regulates3

Patients17

Tyrosine kinase1

Acute Myeloid1

Found13

Mammalian2

Genome4

Pathway1

Inhibit3

Amino3

Whole exome1

Activity of genes1

Molecular4

Syndrome10

Transcription4

TP531

Recessive1

Embryonic2

Spermatogenesis1

Severe2

Deficiency4

Type13

Biallelic1

NCBI1

Disorders2

KRAS1

Putative1

Confer1

Protease2

Polymorphic1

Silico1

Mice5

Intracellular1

Pseudogenes1

Subfamilies1