Sentences with word «missense»

The whole - genome sequencing data yielded a strong association between SSS and a rare missense mutation in MYH6 that could not be accounted for by any other sequence variation.

However, not every mutation carries the same weight: about 13 % of missense de novo mutations, or 1 in 7, were thought to cause ASD in the group under study.

In November 2014 the team published their discovery in A Novel Missense Mutation in ADAMTS10 in Norwegian Elkhound Primary Glaucoma (PLoS ONE 9 (11): e111941).

Research projects: «Synergistic effect of EP4 receptor agonista and rituximab on chronic lymphocytic leucemia» and «Classic galactosemia: characterization and stabilization of GALT missense mutants R231C and R231H

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.

A single base missense mutation in the PFK gene results in truncation and instability of the enzyme.

They took the 10 T2D GWAS loci with the strongest support in their study, and looked for low - frequency missense variants within 2.5 million base pairs of the common index SNV.

For this purpose, the researchers used the computational tool IMPACT, developed in the Tan lab, to sort functional from missense mutations and to cross-reference candidate mutations with those previously reported in other cancer types.

Resequencing of PRDM16 in a cohort of 75 non-syndromic individuals with LVNC detected 3 mutations, including 1 truncation mutant, 1 frameshift null mutation, and a single missense mutant.

We excluded large genomic rearrangements from this analysis as those mutations span multiple bins and also undertook a subset analysis with and without missense mutations.

Upon binding of both X4 - ZFNs, the FokI nuclease cleavage domains dimerize and then generate a double strand break that can subsequently be repaired by error - prone NHEJ resulting in mutations targeted to the cleavage site that can include missense mutations, deletions and insertions (Figure 1).

It has been observed in this pathway that a single - base missense transversion causes the replacement of valine with glutamic acid at amino acid residue 600 in BRAF that is detected in about 85 % of nevi and melanoma [32, 33].

Next, representative missense mutants KMT2D (V5486M) and EP300 (H1377R), as well as WT KMT2D and EP300, were established and transfected into Jurkat cells.

They identified 3 homozygous variants in ATP6V1B: a frameshift mutation (p.Ile386Hisfs * 56), a nucleotide substitution in exon 10 (p.Pro346Arg), and a new splicing mutation in intron 5 and, 2 variants in ATP6V0A4: a homozygous variant (p.Arg743Trp) and a known missense mutations (p.Asp411Tyr).

In five patients, clinical phenotype could be explained by the additional causative missense mutation and for the p.G224T variant further splicing studies are necessary to determine its pathogenicity.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Fifteen patients had predicted missense mutations, including five identical p. (Asn842Ser) substitutions and two p. (Gly717Arg) substitutions.

Structure ‐ energy ‐ based predictions and network modelling of RASopathy and cancer missense mutations

They indicated that «since some affected dogs are heterozygous for the mutant allele, and some are homozygous for the wild - type allele, this putative PDC missense mutation, if it is indeed a disease causing mutation, it does not account entirely for the genetics of inherited retinal degeneration in the miniature schnauzer breed.»

Tsuboi M, Watanabe M, Nibe K, Yoshimi N, Kato A, Sakaguchi M, et al. (2017) Identification of the PLA2G6 c. 1579G > A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis.

Citation: Rinz CJ, Levine J, Minor KM, Humphries HD, Lara R, Starr - Moss AN, et al. (2014) A COLQ Missense Mutation in Labrador Retrievers Having Congenital Myasthenic Syndrome.

A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: A community - based approach to understanding the impact.

A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family.

Two novel missense mutations associated with hemophilia A in a family of Boxers, and a German Shepherd dog.

Whole - exome sequencing of 238 African American subjects identified 6 rare missense variants within the EOAD genes, which were observed in AD cases but never among controls.

In these analyses, we identify and subsequently analyze a set of 107 autosomal genes with a false discovery rate (FDR) of < 30 %; in total, this larger set of genes harbor de novo loss of function (LoF) mutations in 5 % of cases, and numerous de novo missense and inherited LoF mutations in additional cases.