• Mutations in the ATP1A2 and CACNA1A genes have been found to cause sporadic hemiplegic migraine. (medlineplus.gov)
  • Mutations in the ATP1A2 and CACNA1A genes disrupt the transport of ions in neurons, which is thought to impair the normal release and uptake of certain neurotransmitters in the brain. (medlineplus.gov)
  • Researchers believe that mutations in other genes are also involved in the condition, although these genes have not been identified. (medlineplus.gov)
  • There is little evidence that mutations in the CACNA1A and ATP1A2 genes play a role in common migraines, which affect millions of people each year. (medlineplus.gov)
  • APC gene mutations were identified in 64% (30/47) of cancers and 7% of these (2/30) had an additional mutation in another Wnt gene. (umn.edu)
  • Mutations in the fused in sarcoma (FUS) gene have recently been found to cause familial amyotrophic lateral sclerosis (FALS). (elsevierpure.com)
  • Among the 27 single nucleotide variants of mismatch repair genes, 12 were suggestive of nonfunctional SNPs and 15 may be colorectal cancer-related mutations. (ox.ac.uk)
  • Do Parents Pass Gene Mutations to Children? (kidshealth.org)
  • These are called sporadic, spontaneous, or new mutations. (kidshealth.org)
  • Do All Gene Mutations Cause Health Problems? (kidshealth.org)
  • Most gene mutations have no effect on health. (kidshealth.org)
  • Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. (nature.com)
  • We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. (nature.com)
  • Figure 2: Targeted sequencing highlights genes reaching significance for de novo mutations and private disruptive variant burden. (nature.com)
  • Recurrent de novo mutations implicate novel genes underlying simplex autism risk. (nature.com)
  • This is caused by mutations in either the SMARCB1 or LZTR1 genes. (uhhospitals.org)
  • Some children with this condition may have mutations in a gene called GNAQ. (uhhospitals.org)
  • Table 1 provides a summary of cancers and gene mutations. (frontiersin.org)
  • Hereditary breast cancers linked to germ-line mutations of BRCA1 and BRCA2 genes almost invariably show allelic imbalance (Al) at the respective loci. (lu.se)
  • ALL cancers have lots of additional changes, the so-called 'passenger' mutations, that may contribute to the cancer, but are not the main genes. (cancerquest.org)
  • Plasmid-mediated resistance genes are of particular concern because of their ability to spread between bacteria and their ability to promote chromosomal mutations conferring quinolone resistance, potentially resulting in rapid spread of fluoroquinolone resistance within or between populations of bacteria. (cdc.gov)
  • As with many neurodegenerative diseases, both rare autosomal-dominant forms of AD and more common sporadic forms with genetic risk factors without causative mutations exist. (medscape.com)
  • Both are caused by gene mutations leading to defective RecQ DNA helicases, which normally repair DNA. (msdmanuals.com)
  • NOLA1 gene mutations in acquired aplastic anemia. (cdc.gov)
  • TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. (cdc.gov)
  • DKC1 gene mutations in human sporadic cancer. (cdc.gov)
  • About 5% of cases may involve sporadic new mutations. (medscape.com)
  • A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype. (bmj.com)
  • Many people with sporadic hemiplegic migraine do not have a mutation in one of the known genes. (medlineplus.gov)
  • Most components have not been assessed for mutation in sporadic CRC. (umn.edu)
  • Overall, 70% (33/47) of CRCs had a somatic mutation in a Wnt pathway gene. (umn.edu)
  • Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease. (drugbank.com)
  • In this study, the authors performed mutation analysis of these three genes in 41 sporadic HSCR patients without any family history by using single-strand conformational polymorphism or denaturing gradient gel electrophoresis methods. (drugbank.com)
  • No mutation was detected in the EDN3 gene. (drugbank.com)
  • Mutation rates were 7.3% in the RET and 5% in the EDNRB gene. (drugbank.com)
  • However, the low mutation rate of susceptibility genes in sporadically occurring HSCR suggests that other genes or environmental factors are involved in the development of the disease. (drugbank.com)
  • NF1 gene alterations and their therapeutic targeting have been little studied in sporadic cancers because NF1 is a long gene with many pseudogenes and no mutation hot spot. (institutcochin.fr)
  • We looked for this mutation in 65 cases of sporadic PD in Taiwan Chinese patients but found none of these patients with this mutation. (tmu.edu.tw)
  • We conclude that mutation of G209A in the α-synuclein gene plays no role in sporadic PD among Taiwan Chinese. (tmu.edu.tw)
  • What Is a Gene Mutation? (kidshealth.org)
  • A gene mutation (myoo-TAY-shun) is a change in one or more genes. (kidshealth.org)
  • If a parent carries a gene mutation in their egg or sperm, it can pass to their child. (kidshealth.org)
  • Having a pathogenic mutation in one of these three genes virtually guarantees that one will develop early onset Alzheimer disease. (alzforum.org)
  • This is because most cases of TS are caused by a new gene change (mutation) and are not inherited. (uhhospitals.org)
  • controlled for UV-induced mutational load by comparing mutated genes-of-interest against a baseline level of intronic mutation. (frontiersin.org)
  • In conclusion, the high prevalence of Al at BRCA1 in BRCA2 mutation tumours and vice versa suggests that somatic events occurring at the other breast cancer susceptibility gene locus may be selected in the cancer development. (lu.se)
  • Progeria is caused by a sporadic mutation in the LMNA gene that codes for a protein (lamin A) that provides the molecular scaffolding of cell nuclei. (msdmanuals.com)
  • Cockayne syndrome is an autosomal recessive disorder caused by mutation in the ERCC8 gene, which is important in DNA excision repair. (msdmanuals.com)
  • Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita. (cdc.gov)
  • Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis. (nih.gov)
  • Although the aetiology of sporadic ALS (SALS) is largely unknown, familial and epidemiological data indicate that genetic factors may contribute to its pathogenesis. (bmj.com)
  • Sporadic inclusion body myositis (s-IBM) has been traditionally classified as one of the idiopathic inflammatory myopathies along with dermatomyositis (DM) and polymyositis (PM). However, the pathologic findings of sporadic inclusion body myositis (s-IBM) involve both inflammatory and degenerative characteristics, and the true primary pathogenesis of the disease remains a subject of significant debate. (medscape.com)
  • We show that genes that are relevant to the pathogenesis of hyperinsulinemia are expressed preferentially in insulinomas. (elsevierpure.com)
  • Our findings further highlight the importance of the T gene in the pathogenesis of both familial and sporadic chordoma and suggest a complex susceptibility related to T. (johnshopkins.edu)
  • In other words, expression of specific genes might have relevance to pathogenesis of diseases. (intechopen.com)
  • Researchers are searching for additional genetic changes that may underlie rare types of migraine, such as sporadic hemiplegic migraine, as well as the more common forms of migraine. (medlineplus.gov)
  • We have characterized genetic alterations in the NF1 gene in a cohort of non-small cell lung carcinomas (NSCLC) using a targeted NGS approach to confirm NF1 involvement and to characterize genotype/phenotype correlations. (institutcochin.fr)
  • Recently, a common genetic variant in T (rs2305089) was significantly associated with the risk of sporadic chordoma. (johnshopkins.edu)
  • Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis. (nih.gov)
  • [6] [13] About half of these genetic cases are due to disease-causing variants in one of four specific genes . (wikipedia.org)
  • Background Several studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact synergistically to increase disease risk or reduce the age of onset, but these studies have not been validated in large sporadic case series. (bmj.com)
  • Genetic variation in over 50 genes contributes to the risk of developing neurodegenerative diseases. (bmj.com)
  • As a genetic disorder, eFAD clearly is the consequence of the malfunctioning of the mutated genes, whereas late-onset disease is more likely due to a gradual accumulation of age-related malfunctions. (alzforum.org)
  • Germline variants in the succinate dehydrogenase ( SDH ) genes are the most common genetic cause of PGLs, occurring in up to 15% of all patients with PGL and half of all familiar cases. (medscape.com)
  • Genotyping possible polymorphic variants of human mismatch repair genes in healthy Korean individuals and sporadic colorectal cancer patients. (ox.ac.uk)
  • We examined 27 reported single-nucleotide variants, rarely or ambiguously verified in a population-based study, to identify single-nucleotide polymorphisms (SNPs), haplotypes, and the genotype-phenotype association in Korean populations of 330 healthy individuals, 107 sporadic colorectal cancer patients, and 107 of their first-degree relatives. (ox.ac.uk)
  • The genotype distribution for all four SNPs showed no association with sporadic colorectal cancer. (ox.ac.uk)
  • Two haplotype patterns existed exclusively, but with rare frequency, in sporadic colorectal cancer patients. (ox.ac.uk)
  • This is in contrast with tumor suppressor genes which must BOTH be defective to lead to abnormal cell division. (cancerquest.org)
  • showed significant loss of heterozygosity of tumor suppressor genes in sporadic lesions 4 . (bvsalud.org)
  • To date, a number of modifier loci and associated genes have been implicated and several polymorphic variants have been proposed as risk factors for developing SALS. (bmj.com)
  • Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma. (johnshopkins.edu)
  • In addition, we identified three rare variants that were only observed among sporadic chordoma cases, all of which have potential functional relevance based on in silico predictions. (johnshopkins.edu)
  • The genotypic consequences of numerous single-nucleotide variants in human mismatch repair genes are mostly undetermined. (ox.ac.uk)
  • Further verification in other ethnic groups may provide the genotypic and phenotypic significance of single nucleotide variants found in mismatch repair genes. (ox.ac.uk)
  • Figure 3: Protein locations of private disruptive variants in new candidate NDD risk genes. (nature.com)
  • Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. (nih.gov)
  • About one third of patients with PGL have been reported to carry pathogenic germline variants in a growing list of susceptibility genes. (medscape.com)
  • BRCA1 promoter methylation in sporadic breast tumors: relationship to gene expression profiles. (hopkinsmedicine.org)
  • This study aims to investigate the correlations between the methylation level of the Parkinson's Disease (PD)-susceptibility α-synuclein gene (SNCA) intron region 1 and the PD incidences in Uighur and Han ethnic groups. (alliedacademies.org)
  • The Peripheral Blood Mononuclear Cells (PBMCs) of 40 patients (19 Uighur and 21 Han) with Early-Onset Parkinson's Disease (EOPD) and 40 normal people (19 Uighur and 21 Han, ≤ 50 y old) were isolated by density gradient centrifugation, and the methylation level of SNCA gene intron region 1 was then detected using the bisulfite Polymerase Chain Reaction (PCR) sequencing method. (alliedacademies.org)
  • A major breakthrough has been the discovery of a single gene defect in familial Parkinson's disease. (tmu.edu.tw)
  • Genomic defects in DNA mismatch repair (MMR) genes (MSH2, MLH1, PSM2 or MSH6) and consequent high-frequency microsatellite instability (MSI) characterize the HNPCC syndrome [ 1 , 2 ]. (oncotarget.com)
  • The study identified 2 genes known to contribute to tumor progression and 8 known to be present in tumor cells but which have unknown functions. (frontiersin.org)
  • This first category also includes genes that contribute to tumor growth by inhibiting cell death. (cancerquest.org)
  • The worldwide prevalence of sporadic hemiplegic migraine is unknown. (medlineplus.gov)
  • The prevalence of PMQR genes among all U.S. Shigella isolates is currently unknown. (cdc.gov)
  • Chromosome 10 and RET gene copy number alterations in hereditary and sporadic Medullary Thyroid Carcinoma. (unipi.it)
  • While ERRγ deletion did not fully recapitulate the transcriptional alterations observed in postmortem tissue, it caused reductions in genes involved in synaptic and mitochondrial function and autophagy. (nature.com)
  • Nowell, a tumor biologist in the pathology department at the University of Pennsylvania School of Medicine, was interested in the relationship between cancer and alterations in genes (although he had no proof there was one). (laskerfoundation.org)
  • An individualized genome-wide association study using 502,627 SNPs was performed in 1086 histopathologically verified AD cases and controls to determine the OR associated with genes predisposing to Alzheimer's disease. (psychiatrist.com)
  • Approximately 5% of cases of ALS are familial, with the remaining being sporadic. (bmj.com)
  • We sequenced all T exons in 24 familial cases and 54 unaffected family members from eight chordoma families (three with T duplications), 103 sporadic cases, and 160 unrelated controls. (johnshopkins.edu)
  • We also measured T copy number variation in all sporadic cases. (johnshopkins.edu)
  • Among sporadic cases, another common variant (rs3816300) was significantly associated with risk when jointly analyzed with rs2305089. (johnshopkins.edu)
  • A single base pair change at position 209 from G to A (G209A) in the fourth exon of the α-synuclein gene has been identified in cases of familial PD. (tmu.edu.tw)
  • Most cases of CJD are sporadic. (healthline.com)
  • Most cases of ALS (about 90% to 95%) have no known cause , and are known as sporadic ALS . (wikipedia.org)
  • There are also cases of eFAD that cannot be linked to one of these three genes. (alzforum.org)
  • PMQR genes have also been identified in sporadic cases of Shigella sonnei . (cdc.gov)
  • Sporadic AD accounts for the vast majority of AD cases. (medscape.com)
  • A multiplex ligation-dependent probe amplification method was used to compare differences in copy number in 39 common tumor-associated genes among 7 patients with parathyroid carcinoma and 14 age- and sex-matched subjects with parathyroid adenoma. (nih.gov)
  • The methylation level of the SNCA gene intron region 1 might not be associated with the EOPD incidence in Uighur and Han patients. (alliedacademies.org)
  • Cluster analysis revealed 2 groups of patients with insulinoma and with distinct patterns of gene expression. (elsevierpure.com)
  • In addition, patients with a distinct and common pattern of gene expression had significantly higher stimulated insulin secretion levels. (elsevierpure.com)
  • Previous analyses of dopaminergic (DAergic) neurons from patients with Lewy-body pathology revealed a deficiency in nuclear-encoded genes for mitochondrial respiration, many of which are targets for the transcription factor estrogen-related receptor gamma ( Esrrg /ERRγ). (nature.com)
  • Laser-captured microdissected (LCM) DAergic neurons from postmortem tissue of patients with Lewy-pathology revealed a deficiency in expression for nuclear-encoded genes involved in mitochondrial respiration and function 12 . (nature.com)
  • ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes. (nih.gov)
  • Ironically, eFAD patients often have been excluded from drug studies because of their young age, even though studies of these families have contributed to some of the most important findings about Alzheimer disease, including its very discovery (see 'How Early Onset Dementia Led to a Historic Discovery' ) and, later, discovery of the genes causing it. (alzforum.org)
  • Our data have provided evidence for a comparable prediction of clinical outcome in CMF-treated breast cancer patients using conventional clinical variables and gene expression based markers. (lu.se)
  • Most index patients presented with apparently sporadic PGL. (medscape.com)
  • Sporadic inclusion body myositis (s-IBM) and hereditary inclusion body myopathies (h-IBM) encompass a group of disorders sharing the common pathological finding of vacuoles and filamentous inclusions. (medscape.com)
  • In sporadic MTC, RET CNA were represented by chromosome 10 aneuploidy while in hereditary MTC by RET amplification. (unipi.it)
  • Combined allelic loss of both BRCA1 and BRCA2 gene was seen in 12 of the 17 (71%) informative hereditary tumours, whereas copy number losses of both BRCA genes was seen in only 4/14 (29%) sporadic control tumours studied by FISH. (lu.se)
  • The hereditary form is caused by one of three genes, CCM1, CCM2 and CCM3. (chop.edu)
  • Sporadic hemiplegic migraine is a rare form of migraine headache. (medlineplus.gov)
  • In sporadic hemiplegic migraine and some other types of migraine, a pattern of neurological symptoms called an aura occurs before onset of the headache. (medlineplus.gov)
  • In people with sporadic hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). (medlineplus.gov)
  • Some people with sporadic hemiplegic migraine experience unusually severe migraine episodes. (medlineplus.gov)
  • Although most people with sporadic hemiplegic migraine recover completely between episodes, neurological symptoms such as memory loss and problems with attention can last for weeks or months. (medlineplus.gov)
  • Mild to severe intellectual disability has been reported in some people with sporadic hemiplegic migraine. (medlineplus.gov)
  • Studies suggest that in Denmark about 1 in 10,000 people have hemiplegic migraine and that the condition occurs equally in families with multiple affected individuals (a condition known as familial hemiplegic migraine ) and in individuals with no family history of the condition (sporadic hemiplegic migraine). (medlineplus.gov)
  • The resulting abnormal signaling may lead to the severe headaches and auras characteristic of sporadic hemiplegic migraine. (medlineplus.gov)
  • Although family members of an affected individual do not have sporadic hemiplegic migraine, some experience migraine headaches without hemiparesis. (medlineplus.gov)
  • A related condition, familial hemiplegic migraine , has signs and symptoms identical to those in sporadic hemiplegic migraine but occurs in multiple members of a family. (medlineplus.gov)
  • CACNA1A gene have been identified in people with familial hemiplegic migraine type 1 (FHM1). (nih.gov)
  • identified 189 frequently mutated genes associated with these cancers, most of which were not previously known. (frontiersin.org)
  • A diagram showing the major cancer genes for some cancers. (cancerquest.org)
  • For comparison, 14 sporadic breast tumours were also studied. (lu.se)
  • 53% of these tumours showed a copy number loss of the BRCA2 gene by FISH. (lu.se)
  • Half of the tumours (4/8) showed a physical deletion of the BRCA1 gene by FISH. (lu.se)
  • These whole-genome association studies show great promise to identify additional genes that contribute to the risk of AD. (psychiatrist.com)
  • There may be additional genes waiting to be discovered, if only researchers could connect with more eFAD families. (alzforum.org)
  • The expression of MMR genes (MSH2, MLH1, MSH6 and PSM2) and co-stimulatory molecule CD80 was assessed by tissue microarray immunohistochemistry. (oncotarget.com)
  • We studied gene expression profiles from insulinomas and determined associations between these changes and preoperative peak serum insulin levels. (elsevierpure.com)
  • Cluster analysis of gene expression and analysis of expression ratios was performed. (elsevierpure.com)
  • We demonstrate that deletion of ERRγ from DAergic neurons in adult mice was sufficient to cause a levodopa-responsive PD-like phenotype with reductions in mitochondrial gene expression and number, that partial deficiency of ERRγ hastens synuclein-mediated toxicity, and that ERRγ overexpression reduces inclusion load and delays synuclein-mediated cell loss. (nature.com)
  • Further evidence suggests that during PD progression, transcriptional programs for the expression of genes involved in mitochondrial structure and function are disrupted 11 . (nature.com)
  • Altered expression of genes for Kir ion channels in dilated cardiomyopathy. (nih.gov)
  • Predicting Features of Breast Cancer with Gene Expression Patterns. (hopkinsmedicine.org)
  • Gene expression must be appropriately maintained to regulate development, differentiation, and proliferation of cells. (intechopen.com)
  • Imbalances or disturbances in gene expression are sometimes deleterious for living things. (intechopen.com)
  • For example, steroid and thyroid hormones directly bind to nuclear receptors, which induce expression of specific genes. (intechopen.com)
  • MiR-124 synergism with ELAVL3 enhances target gene expression to promote neuronal maturity. (nih.gov)
  • How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)
  • Genetics researchers studied eFAD families to discover the three known genes that cause familial AD: amyloid precursor protein (APP), presenilin-1 (PS1), and presenilin-2 (PS2). (alzforum.org)
  • The proteins produced from these genes transport charged atoms (ions) across cell membranes. (medlineplus.gov)
  • NF1 is a major tumor suppressor gene encoding neurofibromin, a RAS-GAP (GTPase activating protein) that acts as an inhibitor of the RAS-MAPK pathway by allowing RAS proteins to return to inactive confirmation. (institutcochin.fr)
  • We have learned that genes in mammalian cells are transcribed into messenger RNAs (mRNAs), which are to be translated into polypeptides (proteins). (intechopen.com)
  • Note that by convention gene names are italicized and the proteins they make are not. (cancerquest.org)
  • This study provides empirical support for the suggestion that the APOE locus is the major susceptibility gene for late-onset AD in the human genome, with an OR significantly greater than any other locus in the human genome. (psychiatrist.com)
  • Synaptic, transcriptional and chromatin genes disrupted in autism. (nature.com)
  • in fact, these genes are targets of the transcriptional coactivator and master regulator of transcription of mitochondrial genes peroxisome proliferator-activated receptor gamma coactivator-1 alpha (PGC-1α) 12 . (nature.com)
  • Direct regulators of nuclear-encoded mitochondrial genes are members of the estrogen-related receptor (ERR) family, encoded by Esrra , Esrrb and Esrrg . (nature.com)
  • 1 Despite this, no single gene has been definitively shown to cause SALS as attempts to replicate positive findings in different populations have often failed. (bmj.com)
  • Breast cancer susceptibility genes BRCA1 and BRCA2 are tumour suppressor genes the alleles of which have to be inactivated before tumour development occurs. (lu.se)
  • 14 ). It is important to identify the transcription factors involved in regulation of these genes to reveal potential avenues for modulating transcriptional programs that could be dysfunctional in PD. (nature.com)
  • Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. (nature.com)
  • Both the TRS and Eurasian swine viruses caused sporadic infections in humans, but failed to spread from person-to-person, unlike the pH1N1 virus. (cdc.gov)
  • Of the 30,000 or so genes that are currently thought to exist in the human genome , there is a small subset that seems to be particularly important in the prevention, development, and progression of cancer. (cancerquest.org)
  • Shigella isolates without a quinolone resistance gene typically have a ciprofloxacin MIC of ≤0.015 μg/mL. (cdc.gov)
  • Fluoroquinolone resistance is of particular concern given that data from the National Antimicrobial Resistance Monitoring System indicate that many Shigella isolates with a quinolone resistance gene also are resistant to many other commonly used treatment agents, such as azithromycin, trimethoprim-sulfamethoxazole, amoxicillin-clavulanic acid, and ampicillin. (cdc.gov)
  • Rising fluoroquinolone MIC values among Shigella isolates may be related to the emergence of plasmid-mediated quinolone resistance (PMQR) genes in Shigella species in the United States. (cdc.gov)
  • Shigella strains harboring PMQR genes were identified earlier this year following whole genome sequencing of isolates from a multistate outbreak of multidrug-resistant Shigella flexneri infections predominantly affecting adult men, many of whom identify as men who have sex with men, according to epidemiologic data collected by CDC's Shigella program as part of outbreak response. (cdc.gov)
  • Recent global analyses of gene transcripts revealed that specific transcription factors (TFs) and their networking systems physiologically correspond to the onset of human diseases, including cancer. (intechopen.com)
  • Rowley had identified the first "translocation" in cancer, providing clear evidence that the cause of CML could be related to the fact that by moving from one chromosome to another, the aberrant segment of chromosome 22 was no longer sitting next to genes that controlled its behavior. (laskerfoundation.org)
  • The larger the gene name, the more frequently that gene is defective in that cancer type. (cancerquest.org)
  • These genes have been found to be either malfunctioning or non-functioning in many different kinds of cancer. (cancerquest.org)
  • Genes also play a role in a person's risk for some diseases and health conditions. (kidshealth.org)
  • Further, mutational screening of other Wnt pathway genes is warranted. (umn.edu)
  • Sporadic CCMs occur in people with no family history of the disorder. (chop.edu)
  • Autosomal-dominant forms of AD tend to be more severe and occur at a younger age than sporadic AD, but these are relatively rare. (medscape.com)
  • The neuropathologic changes of autosomal-dominant and sporadic AD are largely the same. (medscape.com)
  • This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. (nih.gov)
  • HER2/neu (also called ERB B2 ) is the gene that encodes the human epidermal growth factor receptor type 2. (cancerquest.org)
  • Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita. (cdc.gov)
  • Exon 2, 3, 5, 6, 12, 13, 15, and 17 of the RET gene, 7 exons of the EDNRB gene, and the region of the EDN3 gene including sequences corresponding to proteolytic cleavage sites and mature endothelin-3 were analysed. (drugbank.com)
  • Finally, we did not observe T duplication in any sporadic chordoma case. (johnshopkins.edu)
  • Genes whose protein products stimulate or enhance the division and viability of cells. (cancerquest.org)
  • Genes whose protein products can directly or indirectly prevent cell division or lead to cell death. (cancerquest.org)
  • As an example TP 53 refers to the gene and p53 refers to the protein. (cancerquest.org)
  • This gene, which codes for a sulfate transporter protein, has been mapped to distal end of chromosome bands 5q31-q34. (medscape.com)
  • We found that the Eurasian-origin gene segments contributed to efficient RD transmission of the pH1N1 virus likely by modulating the release of influenza viral RNA-containing particles into the air. (cdc.gov)
  • In this SDHA series, the largest assembled so far, we found the lowest penetrance of all major PGL predisposition genes. (medscape.com)
  • Sporadic means that the condition occurs in individuals with no history of the disorder in their family. (medlineplus.gov)