Matches in SemOpenAlex for { <https://semopenalex.org/work/W2158575160> ?p ?o ?g. }
- W2158575160 abstract "Abstract Background Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation and genetic basis of albinism in this species. Results Clinical examinations and pedigree analysis were performed in an affected herd, and wild-type and OCA tyrosinase mRNA sequences were obtained. The main clinical findings were photophobia and a lack of pigmentation of the hair, skin, horns, hooves, mucosa, and iris. The results of segregation analysis suggest that this disease is acquired through recessive inheritance. In the OCA buffalo, a single-base substitution was detected at nucleotide 1,431 (G to A), which leads to the conversion of tryptophan into a stop codon at residue 477. Conclusion This premature stop codon produces an inactive protein, which is responsible for the OCA buffalo phenotype. These findings will be useful for future studies of albinism in buffalo and as a possible model to study diseases caused by a premature stop codon." @default.
- W2158575160 created "2016-06-24" @default.
- W2158575160 creator A5001500267 @default.
- W2158575160 creator A5019164859 @default.
- W2158575160 creator A5021480127 @default.
- W2158575160 creator A5044184412 @default.
- W2158575160 creator A5088104172 @default.
- W2158575160 creator A5089143367 @default.
- W2158575160 creator A5090148291 @default.
- W2158575160 date "2012-07-20" @default.
- W2158575160 modified "2023-10-18" @default.
- W2158575160 title "A nonsense mutation in the tyrosinase gene causes albinism in water buffalo" @default.
- W2158575160 cites W1951418274 @default.
- W2158575160 cites W1978558489 @default.
- W2158575160 cites W1983313887 @default.
- W2158575160 cites W1986492446 @default.
- W2158575160 cites W1987390807 @default.
- W2158575160 cites W1993107763 @default.
- W2158575160 cites W1997895697 @default.
- W2158575160 cites W2007045532 @default.
- W2158575160 cites W2022002566 @default.
- W2158575160 cites W2030226370 @default.
- W2158575160 cites W2034737840 @default.
- W2158575160 cites W2051524933 @default.
- W2158575160 cites W2052002551 @default.
- W2158575160 cites W2058853417 @default.
- W2158575160 cites W2071169720 @default.
- W2158575160 cites W2075470042 @default.
- W2158575160 cites W2076908231 @default.
- W2158575160 cites W2094893051 @default.
- W2158575160 cites W2097252617 @default.
- W2158575160 cites W2100382193 @default.
- W2158575160 cites W2101531071 @default.
- W2158575160 cites W2102810816 @default.
- W2158575160 cites W2107482604 @default.
- W2158575160 cites W2109276727 @default.
- W2158575160 cites W2109609380 @default.
- W2158575160 cites W2115981775 @default.
- W2158575160 cites W2116505549 @default.
- W2158575160 cites W2123237622 @default.
- W2158575160 cites W2132791846 @default.
- W2158575160 cites W2136942244 @default.
- W2158575160 cites W2137040705 @default.
- W2158575160 cites W2137898238 @default.
- W2158575160 cites W2150726150 @default.
- W2158575160 cites W2156924110 @default.
- W2158575160 cites W2159244373 @default.
- W2158575160 cites W2161461762 @default.
- W2158575160 cites W2165553851 @default.
- W2158575160 cites W2359440324 @default.
- W2158575160 doi "https://doi.org/10.1186/1471-2156-13-62" @default.
- W2158575160 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3411452" @default.
- W2158575160 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22817390" @default.
- W2158575160 hasPublicationYear "2012" @default.
- W2158575160 type Work @default.
- W2158575160 sameAs 2158575160 @default.
- W2158575160 citedByCount "25" @default.
- W2158575160 countsByYear W21585751602012 @default.
- W2158575160 countsByYear W21585751602013 @default.
- W2158575160 countsByYear W21585751602014 @default.
- W2158575160 countsByYear W21585751602015 @default.
- W2158575160 countsByYear W21585751602017 @default.
- W2158575160 countsByYear W21585751602018 @default.
- W2158575160 countsByYear W21585751602019 @default.
- W2158575160 countsByYear W21585751602020 @default.
- W2158575160 countsByYear W21585751602021 @default.
- W2158575160 countsByYear W21585751602022 @default.
- W2158575160 countsByYear W21585751602023 @default.
- W2158575160 crossrefType "journal-article" @default.
- W2158575160 hasAuthorship W2158575160A5001500267 @default.
- W2158575160 hasAuthorship W2158575160A5019164859 @default.
- W2158575160 hasAuthorship W2158575160A5021480127 @default.
- W2158575160 hasAuthorship W2158575160A5044184412 @default.
- W2158575160 hasAuthorship W2158575160A5088104172 @default.
- W2158575160 hasAuthorship W2158575160A5089143367 @default.
- W2158575160 hasAuthorship W2158575160A5090148291 @default.
- W2158575160 hasBestOaLocation W21585751601 @default.
- W2158575160 hasConcept C104317684 @default.
- W2158575160 hasConcept C20580545 @default.
- W2158575160 hasConcept C2775849878 @default.
- W2158575160 hasConcept C2775902910 @default.
- W2158575160 hasConcept C501734568 @default.
- W2158575160 hasConcept C54355233 @default.
- W2158575160 hasConcept C75563809 @default.
- W2158575160 hasConcept C86803240 @default.
- W2158575160 hasConcept C96777560 @default.
- W2158575160 hasConceptScore W2158575160C104317684 @default.
- W2158575160 hasConceptScore W2158575160C20580545 @default.
- W2158575160 hasConceptScore W2158575160C2775849878 @default.
- W2158575160 hasConceptScore W2158575160C2775902910 @default.
- W2158575160 hasConceptScore W2158575160C501734568 @default.
- W2158575160 hasConceptScore W2158575160C54355233 @default.
- W2158575160 hasConceptScore W2158575160C75563809 @default.
- W2158575160 hasConceptScore W2158575160C86803240 @default.
- W2158575160 hasConceptScore W2158575160C96777560 @default.
- W2158575160 hasIssue "1" @default.
- W2158575160 hasLocation W21585751601 @default.
- W2158575160 hasLocation W215857516010 @default.
- W2158575160 hasLocation W21585751602 @default.
- W2158575160 hasLocation W21585751603 @default.