Matches in SemOpenAlex for { <https://semopenalex.org/work/W2050275367> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W2050275367 endingPage "11" @default.
- W2050275367 startingPage "1" @default.
- W2050275367 abstract "Nonsyndromic hearing loss is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear disease genes reported so far. Mutations of BSND have been shown to cause Bartter syndrome type IV, characterized by significant renal abnormalities and deafness and nonsyndromic nearing loss. We studied a Pakistani consanguineous family. Clinical examinations of affected individuals did not reveal the presence of any associated signs, which are hallmarks of the Bartter syndrome type IV. Linkage analysis identified an area of 18.36 Mb shared by all affected individuals between markers D1S2706 and D1S1596. A maximum two-point LOD score of 2.55 with markers D1S2700 and multipoint LOD score of 3.42 with marker D1S1661 were obtained. BSND mutation, that is, p.I12T, cosegregated in all extant members of our pedigree. BSND mutations can cause nonsyndromic hearing loss, and it is a second report for this mutation. The respected protein, that is, BSND, was first modeled, and then, the identified mutation was further analyzed by using different bioinformatics tools; finally, this protein and its mutant was docked with CLCNKB and REN, interactions of BSND, respectively." @default.
- W2050275367 created "2016-06-24" @default.
- W2050275367 creator A5006129463 @default.
- W2050275367 creator A5016686423 @default.
- W2050275367 creator A5049222213 @default.
- W2050275367 creator A5069084167 @default.
- W2050275367 creator A5076555514 @default.
- W2050275367 date "2011-01-01" @default.
- W2050275367 modified "2023-10-18" @default.
- W2050275367 title "Identification of Missense Mutation (I12T) in the BSND Gene and Bioinformatics Analysis" @default.
- W2050275367 cites W1966647232 @default.
- W2050275367 cites W1986049071 @default.
- W2050275367 cites W2005875882 @default.
- W2050275367 cites W2008116827 @default.
- W2050275367 cites W2008261976 @default.
- W2050275367 cites W2008922668 @default.
- W2050275367 cites W2010368222 @default.
- W2050275367 cites W2030148262 @default.
- W2050275367 cites W2035947048 @default.
- W2050275367 cites W2074986801 @default.
- W2050275367 cites W2105801262 @default.
- W2050275367 cites W2113613985 @default.
- W2050275367 cites W2121286926 @default.
- W2050275367 cites W2129132759 @default.
- W2050275367 cites W2141120048 @default.
- W2050275367 cites W2154085632 @default.
- W2050275367 cites W2157540858 @default.
- W2050275367 doi "https://doi.org/10.1155/2011/304612" @default.
- W2050275367 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3085335" @default.
- W2050275367 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21541222" @default.
- W2050275367 hasPublicationYear "2011" @default.
- W2050275367 type Work @default.
- W2050275367 sameAs 2050275367 @default.
- W2050275367 citedByCount "4" @default.
- W2050275367 countsByYear W20502753672018 @default.
- W2050275367 countsByYear W20502753672020 @default.
- W2050275367 countsByYear W20502753672021 @default.
- W2050275367 crossrefType "journal-article" @default.
- W2050275367 hasAuthorship W2050275367A5006129463 @default.
- W2050275367 hasAuthorship W2050275367A5016686423 @default.
- W2050275367 hasAuthorship W2050275367A5049222213 @default.
- W2050275367 hasAuthorship W2050275367A5069084167 @default.
- W2050275367 hasAuthorship W2050275367A5076555514 @default.
- W2050275367 hasBestOaLocation W20502753671 @default.
- W2050275367 hasConcept C104317684 @default.
- W2050275367 hasConcept C134018914 @default.
- W2050275367 hasConcept C142870003 @default.
- W2050275367 hasConcept C143065580 @default.
- W2050275367 hasConcept C23085057 @default.
- W2050275367 hasConcept C2777616141 @default.
- W2050275367 hasConcept C2778242168 @default.
- W2050275367 hasConcept C2780493683 @default.
- W2050275367 hasConcept C501734568 @default.
- W2050275367 hasConcept C54355233 @default.
- W2050275367 hasConcept C548259974 @default.
- W2050275367 hasConcept C71924100 @default.
- W2050275367 hasConcept C75563809 @default.
- W2050275367 hasConcept C86803240 @default.
- W2050275367 hasConceptScore W2050275367C104317684 @default.
- W2050275367 hasConceptScore W2050275367C134018914 @default.
- W2050275367 hasConceptScore W2050275367C142870003 @default.
- W2050275367 hasConceptScore W2050275367C143065580 @default.
- W2050275367 hasConceptScore W2050275367C23085057 @default.
- W2050275367 hasConceptScore W2050275367C2777616141 @default.
- W2050275367 hasConceptScore W2050275367C2778242168 @default.
- W2050275367 hasConceptScore W2050275367C2780493683 @default.
- W2050275367 hasConceptScore W2050275367C501734568 @default.
- W2050275367 hasConceptScore W2050275367C54355233 @default.
- W2050275367 hasConceptScore W2050275367C548259974 @default.
- W2050275367 hasConceptScore W2050275367C71924100 @default.
- W2050275367 hasConceptScore W2050275367C75563809 @default.
- W2050275367 hasConceptScore W2050275367C86803240 @default.
- W2050275367 hasLocation W20502753671 @default.
- W2050275367 hasLocation W20502753672 @default.
- W2050275367 hasLocation W20502753673 @default.
- W2050275367 hasLocation W20502753674 @default.
- W2050275367 hasOpenAccess W2050275367 @default.
- W2050275367 hasPrimaryLocation W20502753671 @default.
- W2050275367 hasRelatedWork W1968150876 @default.
- W2050275367 hasRelatedWork W2037671807 @default.
- W2050275367 hasRelatedWork W2050275367 @default.
- W2050275367 hasRelatedWork W2063106792 @default.
- W2050275367 hasRelatedWork W2133845331 @default.
- W2050275367 hasRelatedWork W2362650105 @default.
- W2050275367 hasRelatedWork W2924022655 @default.
- W2050275367 hasRelatedWork W3024306633 @default.
- W2050275367 hasRelatedWork W3181508926 @default.
- W2050275367 hasRelatedWork W1592611938 @default.
- W2050275367 hasVolume "2011" @default.
- W2050275367 isParatext "false" @default.
- W2050275367 isRetracted "false" @default.
- W2050275367 magId "2050275367" @default.
- W2050275367 workType "article" @default.