Spondyloepiphyseal dysplasia congenitaSpondyloepiphyseal dysplasia congenita

A missense mutation in the mouse Col2a1 gene has been discovered, resulting in a mouse phenotype with similarities to human ... A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. ... Most cases result from new mutations in the gene and occur in people with no family history of the condition. Source: Genetic ... Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita. ...
more infohttp://www.diseaseinfosearch.org/Spondyloepiphyseal+dysplasia+congenita/6821

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: Two allelic ectodermal dysplasias caused by...Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: Two allelic ectodermal dysplasias caused by...

Two allelic ectodermal dysplasias caused by dominant mutations in KRT14 ... Mutation analysis has shown a missense mutation, G827R, in the highly conserved peptidase S1-S6 domain and marked skin ... Mutation analysis revealed a homozygous, deleterious mutation in the SAMD9 gene (K149SE), which was found to segregate with the ... A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. Article Abstract:. Homozygosity mapping ...
more infohttp://www.readabstracts.com/Biological-sciences/Naegeli-Franceschetti-Jadassohn-syndrome-and-dermatopathia-pigmentosa-reticularis-Two-allelic-ectode.html

What is missense mutation? | Reference.comWhat is missense mutation? | Reference.com

A missense mutation occurs when a gene is altered in a way that results in a different amino acid being substituted for the one ... A missense mutation occurs when a gene is altered in a way that results in a different amino acid being substituted for the one ... A missense mutation in the gene coding for the protein hemoglobin substitutes the base thymine for adenine. This results in the ... What is a silent mutation?. A: A silent mutation occurs when a DNA message changes but the message still codes for the same ...
more infohttps://www.reference.com/science/missense-mutation-179d25648fa1afe4

Molecular Mechanisms Underlying Pathogenic Missense MutationsMolecular Mechanisms Underlying Pathogenic Missense Mutations

Computational analysis of missense mutations causing Snyder-Robinson syndrome. Human Mutation 31(9): 1043-1049. ... 2013a) A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Human Molecular Genetics ... 2013) Cancer missense mutations alter binding properties of proteins and their interaction networks. PloS One 8(6): e66273. ... 2012) Molecular effect of a novel missense mutation, L266V, on function of ClC‐5 protein in a Japanese patient with Dents ...
more infohttp://www.els.net/WileyCDA/ElsArticle/refId-a0025698.html

Identification of Missense Mutation (I12T) in the BSND Gene and Bioinformatics AnalysisIdentification of Missense Mutation (I12T) in the BSND Gene and Bioinformatics Analysis

... Hina Iqbal,1 Tayyba Sarfaraz,2 Farida ... Hina Iqbal, Tayyba Sarfaraz, Farida Anjum, Zubair Anwar, and Asif Mir, "Identification of Missense Mutation (I12T) in the BSND ...
more infohttps://www.hindawi.com/journals/bmri/2011/304612/cta/

Identification of an inframe deletion and a missense mutation in ...: Ingenta ConnectIdentification of an inframe deletion and a missense mutation in ...: Ingenta Connect

Birben E, Öner C, Öner R, Altay Ç, Gürgey A. Identification of an inframe deletion and a missense mutation in the factor XIIIA ... The first alteration, a missense mutation Leu235Arg in exon 6 of FXIIIA gene, is located in the putative calcium-binding part ... Identification of an inframe deletion and a missense mutation in the factor XIIIA gene in two Turkish patients ... The second mutation is a 3-bp deletion in exon 14 of FXIIIA gene. This deletion is located in beta barrel 2 domain of the ...
more infohttps://www.ingentaconnect.com/content/mksg/ejh/2003/00000071/00000001/art00006

Mutation, Missense | Profiles RNSMutation, Missense | Profiles RNS

Missense" by people in this website by year, and whether "Mutation, Missense" was a major or minor topic of these publications ... "Mutation, Missense" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ... Below are the most recent publications written about "Mutation, Missense" by people in Profiles. ... Below are MeSH descriptors whose meaning is more general than "Mutation, Missense". ...
more infohttps://profiles.umassmed.edu/display/127716

Syndromic parkinsonism and dementia associated with OPA1 missense mutations.  - PubMed - NCBISyndromic parkinsonism and dementia associated with OPA1 missense mutations. - PubMed - NCBI

Syndromic parkinsonism and dementia associated with OPA1 missense mutations.. Carelli V1,2, Musumeci O3, Caporali L1, Zanna C2 ... We found 2 heterozygous OPA1 missense mutations affecting highly conserved amino acid positions (p.G488R, p.A495V) in the ... Twenty‐six control fibroblasts, 21 fibroblasts with the p.G488R mutation, and 34 with the p.A495V mutation were counted in ... Fibroblasts analyzed were from 3 control subjects, 3 subjects with the p.G488R mutation, and 2 with the p.A495V mutation. ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/25820230?dopt=Abstract

Missense mutation - WikipediaMissense mutation - Wikipedia

In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a ... Missense mutation or substitution refers to a change in one amino acid in a protein, arising from a point mutation in a single ... Missense mutations can render the resulting protein nonfunctional, and such mutations are responsible for human diseases such ... this would be a silent mutation (a type of synonymous substitution, which is not always silent) and not a missense mutation. ...
more infohttps://en.wikipedia.org/wiki/Missense_mutation

Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae | GeneticsFunctional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae | Genetics

Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. Alison E Gammie, Naz ... Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. Alison E Gammie, Naz ... Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. Alison E Gammie, Naz ... Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae Message Subject (Your Name ...
more infohttp://www.genetics.org/content/early/2007/08/24/genetics.107.071084

Functionally null RAD51D missense mutation associates strongly with ovarian carcinoma | Cancer ResearchFunctionally null RAD51D missense mutation associates strongly with ovarian carcinoma | Cancer Research

Functionally null RAD51D missense mutation associates strongly with ovarian carcinoma. Barbara Rivera, Massimo Di Iorio, ... Functionally null RAD51D missense mutation associates strongly with ovarian carcinoma. Barbara Rivera, Massimo Di Iorio, ... Functionally null RAD51D missense mutation associates strongly with ovarian carcinoma. Barbara Rivera, Massimo Di Iorio, ... Functionally null RAD51D missense mutation associates strongly with ovarian carcinoma Message Subject (Your Name) has forwarded ...
more infohttp://cancerres.aacrjournals.org/content/early/2017/06/23/0008-5472.CAN-17-0190

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus | Proceedings of the National Academy of SciencesMAFA missense mutation causes familial insulinomatosis and diabetes mellitus | Proceedings of the National Academy of Sciences

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus Message Subject (Your Name) has sent you a message ... MAFA missense mutation causes familial insulinomatosis and diabetes mellitus. Donato Iacovazzo, Sarah E. Flanagan, Emily Walker ... Strikingly, the missense p.Ser64Phe MAFA mutation was associated with either of two distinct phenotypes, multiple insulin- ... The human phenotypes associated with the p.Ser64Phe MAFA missense mutation reflect both the oncogenic capacity of MAFA and its ...
more infohttp://www.pnas.org/content/115/5/1027.short?rss=1

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7Myosin storage myopathy associated with a heterozygous missense mutation in MYH7

We identified a missense mutation, Arg1845Trp, in the rod region of slow/beta-cardiac MyHC in patients with a skeletal myopathy ... Numerous missense mutations in the globular head of slow/beta-cardiac MyHC are associated with familial hypertrophic ... Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. Tajsharghi, Homa Sahlgrenska University ...
more infohttp://umu.diva-portal.org/smash/record.jsf?pid=diva2:662153

PLOS Genetics: Missense Mutation in Exon 2 of SLC36A1 Responsible for Champagne Dilution in HorsesPLOS Genetics: Missense Mutation in Exon 2 of SLC36A1 Responsible for Champagne Dilution in Horses

Missense Mutation in Exon 2 of SLC36A1 Responsible for Champagne Dilution in Horses. Table 2. Genotyping Results for c.188(C/G ...
more infohttp://journals.plos.org/plosgenetics/article/figure?id=10.1371/journal.pgen.1000195.t002

Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. | Sigma-AldrichDestabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. | Sigma-Aldrich

... we describe a CHK2 missense mutation (R145W) in another LFS family. This mutation destabilizes the encoded protein, reducing ... Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.. [S B Lee, S H Kim, D W Bell, D C Wahrer, ... In a kindred with LFS without an inherited TP53 mutation, we have previously reported a truncating mutation (1100delC) in CHK2 ... Our observations support the functional significance of CHK2 mutations in rare cases of LFS and suggest that such mutations may ...
more infohttps://www.sigmaaldrich.com/catalog/papers/11719428

FARA - Selected missense mutations impair frataxin processing in Friedreich ataxiaFARA - Selected missense mutations impair frataxin processing in Friedreich ataxia

Selected missense mutations impair frataxin processing in Friedreich ataxia Details Written by Jen Farmer Category: Funded ... Typical patients carry GAA repeat expansions on both alleles, while a subgroup of patients carry a missense mutation on one ... The group found that FXNI154F and FXNG130V missense mutations decrease FXN 81-210 levels compared with FXNWT, FXNR165C, and ... This article reports that selected disease-related FXN missense mutations impair FXN localization, interaction with ...
more infohttp://curefa.org/scientific-news/funded-research/selected-missense-mutations-impair-frataxin-processing-in-friedreich-ataxia

Search: protein class:COSMIC Missense Mutations - The Human Protein AtlasSearch: protein class:COSMIC Missense Mutations - The Human Protein Atlas

annotations (the reliablity of the annotated protein expression using immunohistochemically (IH) stained on human tissues, the reliablity of the annotated protein expression in immunofluorescently (IF) stained human cell lines, tissue specificity (the distribution of antibody staining or protein expression in human cell types), cell line specificity (the distribution of RNA abundance in cell lines) and subcellular location (based on immunofluorescent staining of cell lines ...
more infohttps://www.proteinatlas.org/search/protein_class:COSMIC+Missense+Mutations

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.  - PubMed - NCBIMissense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. - PubMed - NCBI

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.. Davidson AE1, Millar ID ... Here, we describe four missense mutations in bestrophin-1, three that we believe are previously unreported, in patients ... Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa ... Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/19853238?dopt=Abstract

A missense mutation at Ile172--|Asn or Arg356--|Trp causes steroid 21-hydroxylase deficiency.A missense mutation at Ile172--|Asn or Arg356--|Trp causes steroid 21-hydroxylase deficiency.

A missense mutation at Ile172--,Asn or Arg356--,Trp causes steroid 21-hydroxylase deficiency.. Chiou S.-H., Hu M.-C., Chung B.- ... Both mutations are present in the CYP21A1P pseudogene, suggesting that they may be transferred from CYP21A1P by gene conversion ... Many forms of CAH exist resulting from various mutations of the CYP21B gene. We sequenced CYP21B cDNA from a normal person and ... Mutants corresponding to Asn172 or Trp356 mutation were constructed by site-directed mutagenesis of the normal c21 cDNA clone. ...
more infohttps://www.uniprot.org/citations/2303461

P4HB recurrent missense mutation causing Cole-Carpenter syndrome | Journal of Medical GeneticsP4HB recurrent missense mutation causing Cole-Carpenter syndrome | Journal of Medical Genetics

P4HB recurrent missense mutation causing Cole-Carpenter syndrome Message subject: (Your Name) has forwarded a page to you from ...
more infohttp://jmg.bmj.com/content/early/2017/12/19/jmedgenet-2017-104899.share

P4HB recurrent missense mutation causing Cole-Carpenter syndrome | Journal of Medical GeneticsP4HB recurrent missense mutation causing Cole-Carpenter syndrome | Journal of Medical Genetics

P4HB recurrent missense mutation causing Cole-Carpenter syndrome. Journal of Medical Genetics Published Online First: 20 ...
more infohttp://jmg.bmj.com/content/early/2017/12/19/jmedgenet-2017-104899.info

A Missense Mutation in CD38 Associated with Autism Spectrum Disorder in Three Pedigrees | IntechOpenA Missense Mutation in CD38 Associated with Autism Spectrum Disorder in Three Pedigrees | IntechOpen

A Missense Mutation in CD38 Associated with Autism Spectrum Disorder in Three Pedigrees , IntechOpen, Published on: 2011-08-17 ... A Missense Mutation in CD38 Associated with Autism Spectrum Disorder in Three Pedigrees. Haruhiro Higashida1, 2, Toshio Munesue ... A Missense Mutation in CD38 Associated with Autism Spectrum Disorder in Three Pedigrees. By Haruhiro Higashida, Toshio Munesue ... 1998 A missense mutation in the CD38 gene, a novel factor for insulin secretion: association with Type II diabetes mellitus in ...
more infohttps://www.intechopen.com/books/autism-a-neurodevelopmental-journey-from-genes-to-behaviour/a-missense-mutation-in-cd38-associated-with-autism-spectrum-disorder-in-three-pedigrees/

A novel missense mutation in the mouse growth hormone gene causes semidominant dwarfism, hyperghrelinemia, and obesity.  -...A novel missense mutation in the mouse growth hormone gene causes semidominant dwarfism, hyperghrelinemia, and obesity. -...

A novel missense mutation in the mouse growth hormone gene causes semidominant dwarfism, hyperghrelinemia, and obesity.. Meyer ... The SMA1-mouse is a novel ethyl-nitroso-urea (ENU)-induced mouse mutant that carries an a--,g missense mutation in exon 5 of ... Mice carrying the mutation are characterized by dwarfism, predominantly due to the reduction (sma1/+) or absence (sma1/sma1) of ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/14726450?dopt=Abstract

A Rare Y Chromosome Missense Mutation in Exon 25 of Human USP9Y Revealed by Pyrosequencing | SpringerLinkA Rare Y Chromosome Missense Mutation in Exon 25 of Human USP9Y Revealed by Pyrosequencing | SpringerLink

A Rare Y Chromosome Missense Mutation in Exon 25 of Human USP9Y Revealed by Pyrosequencing. ... The mutation is in close linkage (four bases distant) from a silent mutation, referred to as M222 (p.E1212E, c.3636G→A). In our ... Nonetheless, mutations in this gene could result in the over- or under-abundance of proteins involved in the regulation of ... This new mutation is expected to represent a new haplogroup, (R1b1c10a); therefore, within our population of individuals from ...
more infohttps://link.springer.com/article/10.1007%2Fs10528-007-9139-1

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes | Nature GeneticsA mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes | Nature Genetics

Enhancers can be disrupted by single nonsense, missense and translationally silent point mutations, without recognition of an ... Some nonsense mutations cause skipping of one or more exons, presumably during pre-mRNA splicing in the nucleus; this ... which may in turn cause phenotypic variability and variable penetrance of mutations elsewhere in a gene. ... Point mutations can generate defective and sometimes harmful proteins. The nonsense-mediated mRNA decay (NMD) pathway minimizes ...
more infohttps://www.nature.com/articles/ng0101_55?error=cookies_not_supported&code=1cf919b3-4826-49ce-bbe8-338bc7586e7f