Matches in SemOpenAlex for { <https://semopenalex.org/work/W2907237022> ?p ?o ?g. }
Showing items 1 to 85 of
85
with 100 items per page.
- W2907237022 abstract "Waardenburg syndrome type 2 (WS2) is a rare genetic disorder, characterized by bright blue eyes, moderate to profound hearing loss and pigmental abnormalities of the hair and skin. Between 10 and 20 mutations in the SRY‑box 10 (SOX10) gene were previously identified to be associated with WS2. The present study aimed to identify the genetic causes of WS2 in a Chinese family. Clinical and molecular analyses were performed to genetically characterize a Chinese family with two cases of WS2. The clinical data of the proband were collected using a questionnaire. The genomic DNA was extracted from peripheral blood samples of each individual in the family, and 168 candidate genes associated with hearing loss were sequenced using the Illumina HiSeq 2000 and confirmed by Sanger sequencing. A heterozygous nonsense mutation [substitution; position 127; cytosine to thymine (c.127C>T)] was identified in exon 2 of SOX10 (transcript ID: NM_006941.3) in the proband and the mother; however, not in other family members or healthy controls. The novel nonsense heterozygous mutation may cause the replacement of codon 43 [arginine (Arg)] with a stop codon (Arg43stop), leading to premature termination of protein translation. The novel nonsense heterozygous mutation c.127C>T in the SOX10 gene was considered to be the cause of WS2 in the family. This mutation has not been identified in any databases, to the best of the authors' knowledge, including The Single Nucleotide Polymorphism Database, The Human Gene Mutation Database, 1000 Genomes Project and ClinVar and Exome Sequencing Project v. 6500." @default.
- W2907237022 created "2019-01-11" @default.
- W2907237022 creator A5002845405 @default.
- W2907237022 creator A5012742805 @default.
- W2907237022 creator A5041606994 @default.
- W2907237022 creator A5042207071 @default.
- W2907237022 creator A5044785252 @default.
- W2907237022 creator A5045839676 @default.
- W2907237022 creator A5065625051 @default.
- W2907237022 creator A5071649977 @default.
- W2907237022 creator A5072267543 @default.
- W2907237022 creator A5073314225 @default.
- W2907237022 creator A5073499481 @default.
- W2907237022 creator A5080109361 @default.
- W2907237022 creator A5089854954 @default.
- W2907237022 date "2019-01-03" @default.
- W2907237022 modified "2023-10-18" @default.
- W2907237022 title "A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type�II" @default.
- W2907237022 doi "https://doi.org/10.3892/mmr.2019.9815" @default.
- W2907237022 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30628718" @default.
- W2907237022 hasPublicationYear "2019" @default.
- W2907237022 type Work @default.
- W2907237022 sameAs 2907237022 @default.
- W2907237022 citedByCount "3" @default.
- W2907237022 countsByYear W29072370222020 @default.
- W2907237022 countsByYear W29072370222021 @default.
- W2907237022 crossrefType "journal-article" @default.
- W2907237022 hasAuthorship W2907237022A5002845405 @default.
- W2907237022 hasAuthorship W2907237022A5012742805 @default.
- W2907237022 hasAuthorship W2907237022A5041606994 @default.
- W2907237022 hasAuthorship W2907237022A5042207071 @default.
- W2907237022 hasAuthorship W2907237022A5044785252 @default.
- W2907237022 hasAuthorship W2907237022A5045839676 @default.
- W2907237022 hasAuthorship W2907237022A5065625051 @default.
- W2907237022 hasAuthorship W2907237022A5071649977 @default.
- W2907237022 hasAuthorship W2907237022A5072267543 @default.
- W2907237022 hasAuthorship W2907237022A5073314225 @default.
- W2907237022 hasAuthorship W2907237022A5073499481 @default.
- W2907237022 hasAuthorship W2907237022A5080109361 @default.
- W2907237022 hasAuthorship W2907237022A5089854954 @default.
- W2907237022 hasBestOaLocation W29072370221 @default.
- W2907237022 hasConcept C104317684 @default.
- W2907237022 hasConcept C12125453 @default.
- W2907237022 hasConcept C127716648 @default.
- W2907237022 hasConcept C16671776 @default.
- W2907237022 hasConcept C188997412 @default.
- W2907237022 hasConcept C2777259899 @default.
- W2907237022 hasConcept C2994225774 @default.
- W2907237022 hasConcept C501734568 @default.
- W2907237022 hasConcept C54355233 @default.
- W2907237022 hasConcept C75563809 @default.
- W2907237022 hasConcept C76818968 @default.
- W2907237022 hasConcept C86803240 @default.
- W2907237022 hasConcept C96777560 @default.
- W2907237022 hasConceptScore W2907237022C104317684 @default.
- W2907237022 hasConceptScore W2907237022C12125453 @default.
- W2907237022 hasConceptScore W2907237022C127716648 @default.
- W2907237022 hasConceptScore W2907237022C16671776 @default.
- W2907237022 hasConceptScore W2907237022C188997412 @default.
- W2907237022 hasConceptScore W2907237022C2777259899 @default.
- W2907237022 hasConceptScore W2907237022C2994225774 @default.
- W2907237022 hasConceptScore W2907237022C501734568 @default.
- W2907237022 hasConceptScore W2907237022C54355233 @default.
- W2907237022 hasConceptScore W2907237022C75563809 @default.
- W2907237022 hasConceptScore W2907237022C76818968 @default.
- W2907237022 hasConceptScore W2907237022C86803240 @default.
- W2907237022 hasConceptScore W2907237022C96777560 @default.
- W2907237022 hasLocation W29072370221 @default.
- W2907237022 hasLocation W29072370222 @default.
- W2907237022 hasOpenAccess W2907237022 @default.
- W2907237022 hasPrimaryLocation W29072370221 @default.
- W2907237022 hasRelatedWork W1587404408 @default.
- W2907237022 hasRelatedWork W1969898902 @default.
- W2907237022 hasRelatedWork W2047945529 @default.
- W2907237022 hasRelatedWork W2423165207 @default.
- W2907237022 hasRelatedWork W2946785548 @default.
- W2907237022 hasRelatedWork W3040225574 @default.
- W2907237022 hasRelatedWork W3176198180 @default.
- W2907237022 hasRelatedWork W3201175182 @default.
- W2907237022 hasRelatedWork W4200105762 @default.
- W2907237022 hasRelatedWork W4283585067 @default.
- W2907237022 isParatext "false" @default.
- W2907237022 isRetracted "false" @default.
- W2907237022 magId "2907237022" @default.
- W2907237022 workType "article" @default.