Matches in SemOpenAlex for { <https://semopenalex.org/work/W2112235909> ?p ?o ?g. }
- W2112235909 endingPage "330" @default.
- W2112235909 startingPage "323" @default.
- W2112235909 abstract "Lysosomes, melanosomes and platelet-dense granules are abnormal in the mouse hypopigmentation mutant pearl. The β3A subunit of the AP-3 adaptor complex, which likely regulates protein trafficking in the trans-Golgi network/endosomal compartments, was identified as a candidate for the pearl gene by a positional/ candidate cloning approach. Mutations, including a large internal tandem duplication and a deletion, were identified in two respective pearl alleles and are predicted to abrogate function of the β3A protein. Significantly lowered expression of altered β3A transcripts occurred in kidney of both mutant alleles. The several distinct pearl phenotypes suggest novel functions for the AP-3 complex in mammals. These experiments also suggest mutations in AP-3 subunits as a basis for unique forms of human Hermansky-Pudlak syndrome and congenital night blindness, for which the pearl mouse is an appropriate animal model." @default.
- W2112235909 created "2016-06-24" @default.
- W2112235909 creator A5002910368 @default.
- W2112235909 creator A5009192943 @default.
- W2112235909 creator A5013650036 @default.
- W2112235909 creator A5018547009 @default.
- W2112235909 creator A5023709557 @default.
- W2112235909 creator A5030763842 @default.
- W2112235909 creator A5037140327 @default.
- W2112235909 creator A5044617244 @default.
- W2112235909 creator A5067008340 @default.
- W2112235909 creator A5069797266 @default.
- W2112235909 creator A5088049011 @default.
- W2112235909 creator A5088348743 @default.
- W2112235909 date "1999-02-01" @default.
- W2112235909 modified "2023-10-12" @default.
- W2112235909 title "The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky- Pudlak syndrome and night blindness" @default.
- W2112235909 cites W1582386710 @default.
- W2112235909 cites W1775116972 @default.
- W2112235909 cites W18979158 @default.
- W2112235909 cites W1967387227 @default.
- W2112235909 cites W1970057342 @default.
- W2112235909 cites W1973583404 @default.
- W2112235909 cites W1981974890 @default.
- W2112235909 cites W1984415764 @default.
- W2112235909 cites W1987281935 @default.
- W2112235909 cites W1988307749 @default.
- W2112235909 cites W1991572962 @default.
- W2112235909 cites W2000491758 @default.
- W2112235909 cites W2009758559 @default.
- W2112235909 cites W2012153447 @default.
- W2112235909 cites W2013326690 @default.
- W2112235909 cites W2014669590 @default.
- W2112235909 cites W2015340853 @default.
- W2112235909 cites W2059339519 @default.
- W2112235909 cites W2072070715 @default.
- W2112235909 cites W2074333462 @default.
- W2112235909 cites W2092716180 @default.
- W2112235909 cites W2097000049 @default.
- W2112235909 cites W2117864629 @default.
- W2112235909 cites W2121357228 @default.
- W2112235909 cites W2131550182 @default.
- W2112235909 cites W2140983793 @default.
- W2112235909 cites W2157742828 @default.
- W2112235909 cites W2281409490 @default.
- W2112235909 cites W3145894777 @default.
- W2112235909 cites W2153943134 @default.
- W2112235909 doi "https://doi.org/10.1093/hmg/8.2.323" @default.
- W2112235909 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9931340" @default.
- W2112235909 hasPublicationYear "1999" @default.
- W2112235909 type Work @default.
- W2112235909 sameAs 2112235909 @default.
- W2112235909 citedByCount "239" @default.
- W2112235909 countsByYear W21122359092012 @default.
- W2112235909 countsByYear W21122359092013 @default.
- W2112235909 countsByYear W21122359092014 @default.
- W2112235909 countsByYear W21122359092015 @default.
- W2112235909 countsByYear W21122359092016 @default.
- W2112235909 countsByYear W21122359092017 @default.
- W2112235909 countsByYear W21122359092018 @default.
- W2112235909 countsByYear W21122359092019 @default.
- W2112235909 countsByYear W21122359092020 @default.
- W2112235909 countsByYear W21122359092021 @default.
- W2112235909 countsByYear W21122359092022 @default.
- W2112235909 crossrefType "journal-article" @default.
- W2112235909 hasAuthorship W2112235909A5002910368 @default.
- W2112235909 hasAuthorship W2112235909A5009192943 @default.
- W2112235909 hasAuthorship W2112235909A5013650036 @default.
- W2112235909 hasAuthorship W2112235909A5018547009 @default.
- W2112235909 hasAuthorship W2112235909A5023709557 @default.
- W2112235909 hasAuthorship W2112235909A5030763842 @default.
- W2112235909 hasAuthorship W2112235909A5037140327 @default.
- W2112235909 hasAuthorship W2112235909A5044617244 @default.
- W2112235909 hasAuthorship W2112235909A5067008340 @default.
- W2112235909 hasAuthorship W2112235909A5069797266 @default.
- W2112235909 hasAuthorship W2112235909A5088049011 @default.
- W2112235909 hasAuthorship W2112235909A5088348743 @default.
- W2112235909 hasBestOaLocation W21122359091 @default.
- W2112235909 hasConcept C104292427 @default.
- W2112235909 hasConcept C104317684 @default.
- W2112235909 hasConcept C127716648 @default.
- W2112235909 hasConcept C142724271 @default.
- W2112235909 hasConcept C143065580 @default.
- W2112235909 hasConcept C153911025 @default.
- W2112235909 hasConcept C2776878037 @default.
- W2112235909 hasConcept C2779778433 @default.
- W2112235909 hasConcept C2780559512 @default.
- W2112235909 hasConcept C2781244666 @default.
- W2112235909 hasConcept C3020804800 @default.
- W2112235909 hasConcept C501734568 @default.
- W2112235909 hasConcept C54355233 @default.
- W2112235909 hasConcept C71924100 @default.
- W2112235909 hasConcept C86803240 @default.
- W2112235909 hasConcept C95444343 @default.
- W2112235909 hasConceptScore W2112235909C104292427 @default.
- W2112235909 hasConceptScore W2112235909C104317684 @default.
- W2112235909 hasConceptScore W2112235909C127716648 @default.
- W2112235909 hasConceptScore W2112235909C142724271 @default.