• I would like to create a list (probably .vcf format would be good) of all known pathogenic missense mutations in a human gene of interest and then add other variants that could lead to the same pathogenic amino acid substitutions. (stackexchange.com)
  • however, the treatment is currently accessible only to patients presenting confirmed biallelic mutations that severely impair hRPE65 function, and many reported hRPE65 missense mutations lack sufficient evidences for proving their pathogenicity. (unipi.it)
  • In 5-10%, the variants are inherited (typically missense mutations), and the considered diagnosis is thus part of the genetic epilepsy with febrile seizures-plus (GEFS+) spectrum. (hindawi.com)
  • T). Of the five mutations, three were truncated mutations, and the other two were missense mutations. (molvis.org)
  • A recent study shows that more than 1% of the population carry pathogenic mutations in these genes and are at increased risk of common diseases, regardless of their family history. (cdc.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)
  • As corneal keratins naturally occur as obligate K3/K12 heterodimers, gene mutations altering the encoded protein of either KRT3 or KRT12 are expected to negatively impact the K3/K12 heterodimer complex. (molvis.org)
  • [ 6 ] However, the gene mutations responsible for the different forms of CMT1 are clearly myelin genes. (medscape.com)
  • Advances in sequencing technologies may allow for more efficient diagnosis of disease by combining analyses of phenotypes and gene mutations. (molvis.org)
  • How do I create a VCF file of all known pathogenic mutations in a gene of interest? (stackexchange.com)
  • Interestingly these mutations in Protein Kinases display a tendency to avoid structurally relevant positions, what represents a significant difference with respect to the average distribution of pathogenic mutations in other protein families. (irb.hr)
  • Conclusions: Disease-associated mutations display sound differences with respect to neutral mutations: several amino acids are specific of each mutation type, different structural properties characterize each class and the distribution of pathogenic mutations within the consensus structure of the Protein Kinase domain is substantially different to that for non-pathogenic mutations. (irb.hr)
  • Background Mutations in GLI2 have been associated with holoprosencephaly (HPE), a neuroanatomic anomaly resulting from incomplete cleavage of the developing forebrain, and an HPE-like phenotype involving pituitary anomalies and polydactyly. (bmj.com)
  • A common facial phenotype was seen in individuals (with midface hypoplasia, cleft lip/palate and hypotelorism) with truncating mutations. (bmj.com)
  • Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. (wikipedia.org)
  • To identify mutations in COL2A1 and COL11A1 genes and to examine the genotype-phenotype correlation in a cohort of Chinese patients with Stickler syndrome. (molvis.org)
  • Analysis of the genotype-phenotype correlation showed that the early onset of high myopia with vitreous abnormalities may serve as a key indicator of Stickler syndrome, while the existence of mandibular protrusion in pediatric patients may be an efficient indicator for the absence of mutations in COL2A1 and COL11A1 . (molvis.org)
  • To contribute to the study of the relation between kinases and disease we compared pathogenic mutations to neutral mutations as an extension to our previous analysis of cancer somatic mutations. (irb.hr)
  • Somatic mutations in the mitochondrial genome occur in numerous tumor types including brain tumors. (biomedcentral.com)
  • None of the mutations were considered pathogenic, indicating that mtDNA somatic mutations do not likely contribute to the initiation or progression of these diverse mouse brain tumors. (biomedcentral.com)
  • found that the majority of mtDNA somatic mutations in medulloblastomas existed in regions of mononucleotide repeats, rather than in genes encoding proteins for the respiratory chain complexes [ 35 ]. (biomedcentral.com)
  • We and others previously showed that certain mitochondrial DNA (mtDNA) somatic mutations or single nucleotide variants (SNVs) enhanced the invasion and metastasis of mouse and human cell lines, e.g. (biomedcentral.com)
  • If I have data from a full genome sequence, how can I search for a known pathogenic variant of a known gene? (stackexchange.com)
  • The protocol evaluates how mutations may affect folding and conformation stability of this protein region, potentially helping clinicians to evaluate the eligibility for gene therapy of patients diagnosed with this type of hRPE65 variant of uncertain significance. (unipi.it)
  • A pathogenic variant was identified (c.6468_6469delTC in a BRCA2 gene mutation). (frontiersin.org)
  • Germline BRCA mutation analysis of the two daughters detected the same pathogenic variant in one of them. (frontiersin.org)
  • For women older than 65, better estimates of the remaining lifetime risk of breast cancer linked with having a pathogenic variant in a predisposition gene are needed. (cancer.org)
  • A variant that is pathogenic for one disease, is not necessarily pathogenic for a different disease. (medlineplus.gov)
  • abstract = "Mutations involving gains of glycosylation have been considered rare, and the pathogenic role of the new carbohydrate chains has never been formally established. (wustl.edu)
  • To report potentially pathogenic mutations in the keratin 3 ( KRT3 ) and keratin 12 ( KRT12 ) genes in two individuals with clinically diagnosed Meesmann corneal dystrophy (MECD). (molvis.org)
  • Potentially pathogenic variants were screened for in 200 control chromosomes. (molvis.org)
  • Few studies have evaluated mtDNA mutations in brain cancer. (biomedcentral.com)
  • It is not yet clear if mtDNA mutations contribute to brain tumor progression. (biomedcentral.com)
  • Furthermore, the frequency of predicted pathogenic mtDNA mutations was significantly correlated with distant metastasis in patients with non-small cell lung carcinoma (NSCLC) and colon cancers [ 2 ]. (biomedcentral.com)
  • Furthermore, a knock-in mouse model confirmed that heterozygous or homozygous mutations within Zfp513 (p.R250W) or Kif3c (p.R412H) alone do not led to clear phenotypes with gingival fibromatosis, whereas the double mutations led to gingival hyperplasia phenotypes. (nature.com)
  • When this syndrome is suspected, investigation of germline BRCA mutations based on specific risk factors is required ( 2 ). (frontiersin.org)
  • Current clinical understanding of germline SDHA mutation carriers is limited. (medscape.com)
  • Germline SDHA mutations are relatively common (7.6%) in patients with genetically unexplained PGL. (medscape.com)
  • [ 15 , 16 ] In this study, we performed a nationwide evaluation of germline SDHA analyses undertaken in patients with PGL and characterized the clinical manifestations and disease penetrance in 30 index SDHA mutation carriers and their relatives. (medscape.com)
  • Objective To characterise the genotypic and phenotypic findings in individuals with GLI2 variants and clarify clinical findings in individuals with loss-of-function mutations. (bmj.com)
  • Heterozygous loss-of-function mutations in LMX1B cause nail-patella syndrome. (medscape.com)
  • Mitochondrial DNA (mtDNA) carrying certain pathogenic mutations or single nucleotide variants (SNVs) enhances the invasion and metastasis of tumor cells, and some of these mutations are homoplasmic in tumor cells and even in tumor tissues. (biomedcentral.com)
  • Researchers, publishing in the journal Nature, have reported on a study which used mitochondrial donation therapy to replace pathogenic mitochondrial DNA mutations in human ooctyes with mitochondrial DNA from healthy donor eggs. (sciencemediacentre.org)
  • We have recently reported that point mutations in the tRNA(Leu) (UUR) and tRNA(Lys) genes cause a defect in the normal modification at the first nucleotide of the anticodon. (elsevierpure.com)
  • As part of a systematic analysis of pathogenic mutant mitochondrial tRNAs, we purified tRNA(Ile) with a point mutation at nucleotide 4269 to determine its nucleotide sequence, including modified nucleotides. (elsevierpure.com)
  • RESULTS: Twenty-six specimens were analyzed for common point mutations in the 21-hydroxlase genes at the nucleotide positions 659, 1004 and 1688. (aku.edu)
  • Index case No. 1, 4 and 7 showed homozygosity for splice mutations at nucleotide position 659, intron 2 with a sequence change of A to G, while the index case No. 2 and 6 showed heterozygosity for the same mutation. (aku.edu)
  • No mutation was found at 659, 1004 or 1688 in index case No. 3 and 4 at the analyzed nucleotide position. (aku.edu)
  • CONCLUSION: Our results demonstrated the A to G transition at nucleotide 659 causing aberrant splicing, reported for some other populations as the most commonly identified point mutations. (aku.edu)
  • We detected 195 pathogenic/likely pathogenic variants in 59 known POI-causative genes, accounting for 193 (18.7%) cases. (cdc.gov)
  • In humans, prion disease can occur in individuals who inherited mutations in the prion protein gene. (nih.gov)
  • The pathogenic mutation T182A converts the prion protein into a molten globule-like conformation whose misfolding to oligomers but not to fibrils is drastically accelerated. (ncbs.res.in)
  • Delineation of the effects of pathogenic mutations linked with familial prion diseases, on the structure and misfolding of prion protein (PrP), will be useful in understanding the molecular mechanism of PrP misfolding. (ncbs.res.in)
  • Here, it has been shown that the pathogenic mutation T182A causes a drastic reduction in the apparent cooperativity and enthalpy of unfolding of the mouse prion protein (moPrP) under misfolding-prone conditions by converting the protein into a molten globule (MG)-like conformation. (ncbs.res.in)
  • Hydrogen-deuterium exchange studies in conjunction with mass spectrometry indicate that the T182A mutation disrupts the core of the protein, thereby increasing overall structural dynamics. (ncbs.res.in)
  • We compared the clinical and molecular features of individuals with truncating mutations to individuals with variants of unknown significance (defined as not resulting in protein truncation, reported in normal controls and/or deemed unlikely to be pathogenic by functional prediction software). (bmj.com)
  • This approach is sufficiently sensitive to capture the effect of different mutations, and our results clearly indicate that the pathogenic mutation in GLUT1, G91D, situated at the highly conserved RXGRR motif between helices 2 and 3, has a strong impact on channel function, as it blocks the protein from sampling both conformational states. (vu.nl)
  • Conclusions: Using our approach, we can explain the pathogenicity of the mutation G91D when we observe the configurations of the transmembrane helices, suggesting that their relative position is crucial for the correct functioning of the GLUT1 protein. (vu.nl)
  • Results: Pathogenic Protein Kinase mutations perturb essential aspects of protein function, including disruption of substrate binding and/or effector recognition at family-specific positions. (irb.hr)
  • A 2007 study on genetic variations between different species of Drosophila suggested that, if a mutation changes a protein produced by a gene, the result is likely to be harmful, with an estimated 70% of amino acid polymorphisms that have damaging effects, and the remainder being either neutral or marginally beneficial. (wikipedia.org)
  • The human retinal pigment epithelium-specific 65-kDa protein (hRPE65) plays a crucial role within the retinoid visual cycle and several mutations affecting either its expression level or its enzymatic function are associated with inherited retinal diseases such as Retinitis Pigmentosa. (unipi.it)
  • In this context, we developed a computational approach aimed at evaluating the potential pathogenic effect of hRPE65 missense variants located on the dimerisation domain of the protein. (unipi.it)
  • It is caused by pathogenic variants in the WRN gene, which encodes a multifunctional nuclear protein with exonuclease and helicase activities. (amrita.edu)
  • A small number of sporadic human cases of A(H5N1) have been identified since 2022, despite the panzootic of highly pathogenic avian influenza (HPAI) A(H5N1) viruses in wild birds and poultry. (cdc.gov)
  • The causative agent behind this outbreak was identified as H5N1 highly pathogenic avian influenza virus (HPAIV). (nature.com)
  • Recent evidence indicates that at least some species of migratory birds are now directly carrying highly pathogenic H5N1 viruses to new areas located along migratory flyways. (who.int)
  • The episode in the second quarter of 2005, when more than 6000 wild waterfowl died at a nature reserve in central China of influenza due to highly pathogenic H5N1 virus, was highly unusual and probably historically unprecedented. (who.int)
  • For the first time, researchers estimate the prevalence of pathogenic variants of breast cancer predisposition genes beyond BRCA1/2 in older women. (cancer.org)
  • The purpose of our study was to evaluate the prevalence of inherited BRCA1/2 pathogenic variants in a large, clinically representative breast cancer cohort and to estimate the proportion of BRCA1/2 carriers not detected by selectively screening individuals with the highest probability of being carriers according to current clinical guidelines. (lu.se)
  • NGS is fast, scalable, reliable and could reveal putative pathogenic variants. (sun.ac.za)
  • Putative pathogenic mutations of the COL11A1 gene were absent in this cohort of patients. (molvis.org)
  • Here, based on a family pedigree with 26 members, including nine patients with HGF, we identified double heterozygous pathogenic mutations in the ZNF513 (c.C748T, p.R250W) and KIF3C (c.G1229A, p.R410H) genes within the GINGF3 locus related to HGF. (nature.com)
  • Heterozygous mutations encoding abnormal forms of the death receptor Fas dominantly interfere with Fas-induced lymphocyte apoptosis in human autoimmune lymphoproliferative syndrome. (duke.edu)
  • Characterization of pathogenic mutations in 21-hydroxylase gene of Pakistani patients with congenital adrenal hyperplasia and their family members--a preliminary report. (aku.edu)
  • Dive into the research topics of 'Characterization of pathogenic mutations in 21-hydroxylase gene of Pakistani patients with congenital adrenal hyperplasia and their family members--a preliminary report. (aku.edu)
  • In this study, we generated genome sequence data from five additional Magnaporthales fungi including non-pathogenic species, and performed comparative genome analysis of a total of 13 fungal species in the class Sordariomycetes to understand the evolutionary history of the Magnaporthales and of fungal pathogenesis. (nature.com)
  • In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. (wikipedia.org)
  • This higher mutation rate may be due in part to a lack of protective histones, reduced fidelity of polymerase γ, or to the localization of the mitochondrial genome to the inner mitochondrial membrane near damaging reactive oxygen species [ 5 - 9 ]. (biomedcentral.com)
  • The American College of Medical Genetics and Genomics (ACMG) has published an updated panel of 59 genes with clinically actionable mutations that they recommend be returned to people undergoing genome sequencing studies. (cdc.gov)
  • Point mutations in mitochondrial tRNA genes are responsible for individual subgroups of mitochondrial encephalomyopathies. (elsevierpure.com)
  • It is also possible that genetic mutations interact with environmental factors to cause PD onset and its progression. (sun.ac.za)
  • But even before such a project leads to new discoveries, we already know that many people have genetic mutations that make them more likely to get cancer, heart disease, and other conditions. (cdc.gov)
  • Moreover, specific mutations of MCT8 located in transmembrane helix 2 (del230F, V235M, and ins236V) increased the capacity of MCT8 variants to dimerize. (endocrinology-journals.org)
  • OBJECTIVE: To characterize specific mutations within the 21-hydroxylase gene (CYP21-B) using ARMS-PCR assay in patients with congenital adrenal hyperplasia (CAH) and to compare it with that reported in other populations. (aku.edu)
  • An additional 10 patients with optic atrophy and cerebellar atrophy, which were negative for mtDNA and OPA1 variants, were tested for pathogenic mutations in the SLC25A46 gene. (eur.nl)
  • The present study focused on identifying pathogenic mutations in Black South African and Nigerian PD patients. (sun.ac.za)
  • The study also implemented targeted next-generation sequencing (NGS) to screen the 751 genes known to harbour pathogenic mutations in patients with neurological diseases using the AmpliSeqTM Neurological Disease panel and the Ion Torrent sequencing platform. (sun.ac.za)
  • Around 80% of affected patients with DS carry a mutation in the alpha-1 subunit of the sodium channel of the SCN1A gene localized in 2q24.3, encoding a voltage-gated sodium channel essential for the excitability of neurons. (hindawi.com)
  • A minority of DS patients might have pathogenic variants in other genes such as PCDH19 , SCN1B , SCN8A , HCN1 , GABRA1 , and GABRG2 [ 5 ], and other pathologies close to DS might then be considered as differential diagnosis. (hindawi.com)
  • We will highlight and focus the symptoms, the mutations of the diagnosed patients, and the treatment to be given. (hindawi.com)
  • This is the first study in a cohort of Chinese patients with Stickler syndrome, and the results expand the mutation spectrum of the COL2A1 gene. (molvis.org)
  • It is estimated that these two genes are responsible for more than 95% of the mutations in patients with Stickler syndrome ( HGMD , last updated in March 2015). (molvis.org)
  • Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)
  • We found that, instead of causing a defect in the post-transcriptional modification, a pathogenic point mutation in the mitochondrial tRNA(Ile) reduced the stability of the mutant tRNA molecule, resulting in a low steady-state level of aminoacyl-tRNA. (elsevierpure.com)
  • Somatic BRCA1/2 mutation analysis was performed by next-generation sequencing on the DNA extracted from a formalin-fixed, paraffin-embedded CCA biopsy specimen of their mother. (frontiersin.org)
  • Because germinal DNA from the index case was unavailable, somatic BRCA1/2 mutation analysis was performed on the DNA extracted from the formalin-fixed, paraffin-embedded CCA biopsy material. (frontiersin.org)
  • Mutation analysis was performed with the Oncomine BRCA1-2 Assay (Thermo Fisher Scientific, Carlsbad, CA, USA). (frontiersin.org)
  • It remains unclear whether metastasis-enhancing pathogenic mutant mtDNA in tumor cells is intercellularly transferred between tumor cells and stromal cells. (biomedcentral.com)
  • Furthermore, the structural and functional effects of new mutations on ARSA were analyzed using SIFT (sorting intolerant from tolerant), I-Mutant 2, and PolyPhen bioinformatics software. (um.edu.my)
  • Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses. (bvsalud.org)
  • About 1/3 of individuals with LDS have an affected parent, while 2/3 of cases are caused by new or de novo pathogenic gene variants (mutations). (rarediseases.org)
  • A heteroplasmic mutation in the 16srRNA gene was detected in a spontaneous metastatic VM brain tumor. (biomedcentral.com)
  • In this study, we investigated whether mtDNA with the NADH dehydrogenase subunit 6 ( ND6 ) G13997A pathogenic mutation in highly metastatic cells can be horizontally transferred to low-metastatic cells and stromal cells in the tumor microenvironment. (biomedcentral.com)
  • Mutation of the p53 tumor suppressor gene is considered to be one of the steps leading to the neoplastic state. (cdc.gov)
  • Conclusions Individuals with truncating mutations in GLI2 typically present with pituitary anomalies, polydactyly and subtle facial features rather than HPE. (bmj.com)
  • These individuals were more likely to have recognised penetrance (polydactyly or pituitary anomalies or both) than those without truncating mutations (p=0.0036 by Fisher's exact test). (bmj.com)
  • To estimate the contribution of SDHA mutations in PGL and to assess clinical manifestations and age-related penetrance. (medscape.com)
  • SDHA mutation detection yield, clinical manifestations, and SDHA related disease penetrance. (medscape.com)
  • The estimated penetrance of any SDHA-related manifestation was 10% at age 70 years (95% confidence interval, 0% to 21%) in nonindex mutation carriers. (medscape.com)
  • Gait Abnormalities and Aberrant D2 Receptor Expression and Signaling in Mice Carrying the Human Pathogenic Mutation DRD2I212F. (ohsu.edu)
  • Methods Through the National Institutes of Health and collaborating centres, ∼400 individuals with HPE spectrum disorders, endocrine disorders or craniofacial anomalies were screened for GLI2 mutations. (bmj.com)
  • WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects. (amrita.edu)
  • Fourteen pathogenic variants of MCT8 were investigated in vitro with respect to their capacity to form oligomers. (endocrinology-journals.org)
  • NleG homologues constitute the largest family of Type 3 effectors delivered by pathogenic E. coli, with fourteen members in the enterohaemorrhagic (EHEC) O157:H7 strain alone. (rcsb.org)
  • Here we have studied the effects of two of these mutations and show that they influence the properties of the prions that can be formed. (nih.gov)
  • Secondly, mutations were characterized according to their potential structural effects and finally, we assessed the location of the different classes of polymorphisms with respect to kinase relevant positions in terms of subfamily specificity, conservation, accessibility and functional sites. (irb.hr)
  • Due to the damaging effects that mutations can have on genes, organisms have mechanisms such as DNA repair to prevent or correct mutations by reverting the mutated sequence back to its original state. (wikipedia.org)
  • Their pathogenic effects may be a direct consequence of the addition of N-linked carbohydrate. (wustl.edu)
  • While numerous studies have described the pathogenic and carcinogenic effects of nickel compounds, little has been done on the biological effects of metallic nickel. (cdc.gov)
  • Observed mutation rates in humans appear higher in male than female gametes and often increase with paternal age. (ox.ac.uk)
  • This virus was highly pathogenic in chickens and humans and posed a significant threat to public health. (nature.com)
  • Direct-sequence analysis and RT-PCR were performed to identify the causative mutation using genomic DNA and total RNA samples collected from affected, carrier and normal cats. (vin.com)
  • Several pathogenic mutations are reported in the glucose transporter subfamily SLC2, causing Glut1-deficiency syndrome (GLUT1DS1, GLUT1DS2), epilepsy (EIG2) and cryohydrocytosis with neurological defects (Dystonia-9). (vu.nl)
  • 16 Among these loci, "son of sevenless homologue 1" ( SOS1 , OMIM 182530) and "RE1 silencing transcription factor" ( REST , OMIM 600571), which are HGF-related pathogenic genes, have been identified as associated with GINGF1 and GINGF5, respectively. (nature.com)
  • Types 1 and 2 are caused by mutations in the COL2A1 (OMIM 120140 ) and COL11A1 (OMIM 120280 ) genes, respectively. (molvis.org)
  • In summary, these results demonstrate ZNF513 + KIF3C as an important genetic combination in HGF manifestation and suggest that ZNF513 mutation may be a major risk factor for HGF. (nature.com)
  • Results 112 individuals with variants in GLI2 were identified, with 43 having truncating mutations. (bmj.com)
  • Thus, these mutations appear to limit the formation of aggregated PrP(Sc), giving rise to the accumulation of a relatively soluble, protease sensitive, prion species that is highly neurotoxic. (nih.gov)
  • Given that these mutations lie next to the glycine-rich region of PrP that can abrogate prion infection, these findings provide further support for small, protease-sensitive prion species having a significant role in the progression of prion disease and that the hydrophobic domain is an important determinant of PrP conversion. (nih.gov)
  • The Pietras Lab is interested in identifying new drugs that can target the abnormal features of stem cells that gain DNA mutations, well before they evolve into cancer. (lls.org)
  • Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. (wikipedia.org)
  • Scholars@Duke publication: Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations. (duke.edu)
  • Several mutations in the beta amyloid precursor gene cause autosomal dominant Alzheimer's Disease in a number of kindreds. (anaspec.com)
  • When MitoTracker Deep Red-labeled high-metastatic Lewis lung carcinoma A11 cells carrying the ND6 G13997A mtDNA mutation were cocultured with CellLight mitochondria-GFP-labeled low-metastatic P29 cells harboring wild-type mtDNA, bidirectional transfer of red- and green-colored vesicles, probably mitochondria-related EVs, was observed in a time-dependent manner. (biomedcentral.com)
  • To improve our ability to eradicate these stem cells, we have closely studied the life history of AML from the earliest stages, when blood stem cells acquire their first mutation, through a malignant condition called myelodysplastic syndrome, in which disease-causing MDS stem cells (MDS-SC) often eventually give rise to AML. (lls.org)
  • Familial forms of human prion disease include those associated with the mutations G114V and A117V, which lie in the hydrophobic domain of PrP. (nih.gov)
  • GM1 gangliosidosis is a fatal, progressive, neurodegenerative lysosomal storage disease caused by mutations in the β-galactosidase ( GLB1 ) gene. (vin.com)
  • The mutations in these genes provide new opportunities to understand the disease by suggesting biological pathways that could be involved in PD pathogenesis. (sun.ac.za)
  • Familial cases of Parkinson's disease can be caused by variants (also called mutations) in the LRRK2 , PARK7 , PINK1 , PRKN , or SNCA gene, or by alterations in genes that have not been identified. (medlineplus.gov)
  • We identified three children with mendelian susceptibility to mycobacterial disease who were homozygous with respect to a missense mutation in IFNGR2 creating a new N-glycosylation site in the IFNγR2 chain. (wustl.edu)
  • Thus, an unexpectedly high proportion of mutations that cause human genetic disease might lead to the creation of new N-glycosylation sites. (wustl.edu)
  • Just because a gene is associated with a disease, does not mean that all variants in that gene are pathogenic. (medlineplus.gov)
  • [ 4 ] } More than 400 disease-causing mutations have been reported to date. (medscape.com)
  • A strategy, based on ARMS-PCR (Amplified Refractory Mutation System) was employed for the detection of mutations in 21-hydroxylase gene. (aku.edu)
  • My lab is focused on understanding the pathogenic interplay between oncogenic mutations, chronic inflammation and aberrant metabolism as a driver of the evolutionary processes that culminate in lethal myeloid malignancies. (lls.org)
  • is there an option to download a vcf file with all HGMD mutations within my gene? (stackexchange.com)
  • add additional mutations (which may not be present in HGMD) which could lead to the same substitution. (stackexchange.com)
  • I'm not sure how to generate the additional mutations, but I would say that HGMD is not the way to find all the pathogenic variants. (stackexchange.com)