FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1736183920> ?p ?o ?g. }

• W1736183920 abstract "The genetic diversity of loci and mutations underlying hereditary hearing loss is an active area of investigation. To identify loci associated with predominantly non-syndromic sensorineural hearing loss, we performed exome sequencing of families and of single probands, as well as copy number variation (CNV) mapping in a case–control cohort. Analysis of three distinct families revealed several candidate loci in two families and a single strong candidate gene, MYH7B, for hearing loss in one family. MYH7B encodes a Type II myosin, consistent with a role for cytoskeletal proteins in hearing. High-resolution genome-wide CNV analysis of 150 cases and 157 controls revealed deletions in genes known to be involved in hearing (e.g. GJB6, OTOA, and STRC, encoding connexin 30, otoancorin, and stereocilin, respectively), supporting CNV contributions to hearing loss phenotypes. Additionally, a novel region on chromosome 16 containing part of the PDXDC1 gene was found to be frequently deleted in hearing loss patients (OR = 3.91, 95% CI: 1.62-9.40, p = 1.45 × 10-7). We conclude that many known as well as novel loci and distinct types of mutations not typically tested in clinical settings can contribute to the etiology of hearing loss. Our study also demonstrates the challenges of exome sequencing and genome-wide CNV mapping for direct clinical application, and illustrates the need for functional and clinical follow-up as well as curated open-access databases." @default.
• W1736183920 created "2016-06-24" @default.
• W1736183920 creator A5003860054 @default.
• W1736183920 creator A5016944923 @default.
• W1736183920 creator A5023456850 @default.
• W1736183920 creator A5024120181 @default.
• W1736183920 creator A5028760615 @default.
• W1736183920 creator A5032163850 @default.
• W1736183920 creator A5044047568 @default.
• W1736183920 creator A5055586143 @default.
• W1736183920 date "2014-12-01" @default.
• W1736183920 modified "2023-10-16" @default.
• W1736183920 title "Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss" @default.
• W1736183920 cites W1539345324 @default.
• W1736183920 cites W1904321953 @default.
• W1736183920 cites W1965771015 @default.
• W1736183920 cites W1969998265 @default.
• W1736183920 cites W1981750477 @default.
• W1736183920 cites W1984996211 @default.
• W1736183920 cites W2005504872 @default.
• W1736183920 cites W2011355532 @default.
• W1736183920 cites W2012203722 @default.
• W1736183920 cites W2016143291 @default.
• W1736183920 cites W2021714239 @default.
• W1736183920 cites W2023275648 @default.
• W1736183920 cites W2025498806 @default.
• W1736183920 cites W2026516410 @default.
• W1736183920 cites W2039783092 @default.
• W1736183920 cites W2055655674 @default.
• W1736183920 cites W2062511568 @default.
• W1736183920 cites W2066984971 @default.
• W1736183920 cites W2069577154 @default.
• W1736183920 cites W2081701021 @default.
• W1736183920 cites W2083725317 @default.
• W1736183920 cites W2090678593 @default.
• W1736183920 cites W2092689431 @default.
• W1736183920 cites W2092890929 @default.
• W1736183920 cites W2093162672 @default.
• W1736183920 cites W2104595023 @default.
• W1736183920 cites W2106392690 @default.
• W1736183920 cites W2106929137 @default.
• W1736183920 cites W2116126626 @default.
• W1736183920 cites W2119744081 @default.
• W1736183920 cites W2126867710 @default.
• W1736183920 cites W2138261854 @default.
• W1736183920 cites W2141440883 @default.
• W1736183920 cites W2147736048 @default.
• W1736183920 cites W2157752701 @default.
• W1736183920 cites W2159205463 @default.
• W1736183920 cites W2160995259 @default.
• W1736183920 cites W2161633633 @default.
• W1736183920 cites W2163441504 @default.
• W1736183920 cites W2163479134 @default.
• W1736183920 cites W2168656450 @default.
• W1736183920 cites W2169944788 @default.
• W1736183920 cites W2171777347 @default.
• W1736183920 doi "https://doi.org/10.1186/1471-2164-15-1155" @default.
• W1736183920 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4367882" @default.
• W1736183920 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25528277" @default.
• W1736183920 hasPublicationYear "2014" @default.
• W1736183920 type Work @default.
• W1736183920 sameAs 1736183920 @default.
• W1736183920 citedByCount "26" @default.
• W1736183920 countsByYear W17361839202015 @default.
• W1736183920 countsByYear W17361839202016 @default.
• W1736183920 countsByYear W17361839202017 @default.
• W1736183920 countsByYear W17361839202018 @default.
• W1736183920 countsByYear W17361839202019 @default.
• W1736183920 countsByYear W17361839202020 @default.
• W1736183920 countsByYear W17361839202021 @default.
• W1736183920 countsByYear W17361839202022 @default.
• W1736183920 countsByYear W17361839202023 @default.
• W1736183920 crossrefType "journal-article" @default.
• W1736183920 hasAuthorship W1736183920A5003860054 @default.
• W1736183920 hasAuthorship W1736183920A5016944923 @default.
• W1736183920 hasAuthorship W1736183920A5023456850 @default.
• W1736183920 hasAuthorship W1736183920A5024120181 @default.
• W1736183920 hasAuthorship W1736183920A5028760615 @default.
• W1736183920 hasAuthorship W1736183920A5032163850 @default.
• W1736183920 hasAuthorship W1736183920A5044047568 @default.
• W1736183920 hasAuthorship W1736183920A5055586143 @default.
• W1736183920 hasBestOaLocation W17361839201 @default.
• W1736183920 hasConcept C104317684 @default.
• W1736183920 hasConcept C10590036 @default.
• W1736183920 hasConcept C120821319 @default.
• W1736183920 hasConcept C127716648 @default.
• W1736183920 hasConcept C141231307 @default.
• W1736183920 hasConcept C16671776 @default.
• W1736183920 hasConcept C188997412 @default.
• W1736183920 hasConcept C2780493683 @default.
• W1736183920 hasConcept C2780607864 @default.
• W1736183920 hasConcept C501734568 @default.
• W1736183920 hasConcept C54355233 @default.
• W1736183920 hasConcept C548259974 @default.
• W1736183920 hasConcept C69991583 @default.
• W1736183920 hasConcept C71924100 @default.
• W1736183920 hasConcept C86803240 @default.
• W1736183920 hasConceptScore W1736183920C104317684 @default.
• W1736183920 hasConceptScore W1736183920C10590036 @default.
• W1736183920 hasConceptScore W1736183920C120821319 @default.

• next