Matches in SemOpenAlex for { <https://semopenalex.org/work/W2131730424> ?p ?o ?g. }
Showing items 1 to 100 of
100
with 100 items per page.
- W2131730424 endingPage "e86" @default.
- W2131730424 startingPage "e86" @default.
- W2131730424 abstract "Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder characterised by abnormally low amounts of melanin in the eyes, skin, and hair. In addition to hypopigmentation of the skin and eyes, OCA patients have ocular manifestations including nystagmus, foveal hypoplasia with reduced visual acuity, and strabismus.1 Several subtypes of OCA exist. OCA2, the most common subtype, results from mutations in the P gene.2,3 OCA2 patients have a broad range of phenotypes, with minimal to moderate pigmentation of the hair, skin, and iris that may darken with age.1 OCA1 is the second most common type and is caused by mutations in the tyrosinase gene, TYR .4,5 The lack of functional tyrosinase results in the complete absence of pigmentation in hair and skin. Rarer forms of OCA include OCA3, also known as “rufous/red albinism” and associated with mutations in the TYRP1 gene,6 and OCA4, associated with mutations in the MATP gene.7 Finally, some genetic defects in intracellular vesicle formation and trafficking have OCA as a major clinical component.8,9 For example, Chediak-Higashi syndrome (CHS) is characterised by giant intracellular granules, an often fatal diathesis to infection, and variable degrees of hypopigmentation.10 Hermansky-Pudlak syndrome (HPS) involves OCA as part of a constellation of findings that include platelet storage pool deficiency and, in some patients, accumulation of ceroid pigment, pulmonary fibrosis, and/or granulomatous colitis.11 The sine qua non of HPS is absence of platelet dense bodies on whole mount electron microscopy.12 CHS and HPS can have overlapping phenotypes. For example, HPS-2, associated with mutations in the β3A subunit of adaptor complex-3,13 manifests with neutropenia and childhood infections reminiscent of CHS.14,15Because of our interest in hypopigmentation and disorders of intracellular vesicles, we investigated all patients having OCA plus a history …" @default.
- W2131730424 created "2016-06-24" @default.
- W2131730424 creator A5001546169 @default.
- W2131730424 creator A5031636618 @default.
- W2131730424 creator A5064774147 @default.
- W2131730424 creator A5074370153 @default.
- W2131730424 creator A5082442398 @default.
- W2131730424 creator A5086550680 @default.
- W2131730424 creator A5090308794 @default.
- W2131730424 date "2004-06-01" @default.
- W2131730424 modified "2023-10-05" @default.
- W2131730424 title "P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome" @default.
- W2131730424 cites W110122724 @default.
- W2131730424 cites W14083555 @default.
- W2131730424 cites W1493827763 @default.
- W2131730424 cites W1535022681 @default.
- W2131730424 cites W1564337572 @default.
- W2131730424 cites W1570971155 @default.
- W2131730424 cites W1962478077 @default.
- W2131730424 cites W1970534138 @default.
- W2131730424 cites W1974268067 @default.
- W2131730424 cites W1981974890 @default.
- W2131730424 cites W1982865150 @default.
- W2131730424 cites W1984279815 @default.
- W2131730424 cites W1985696079 @default.
- W2131730424 cites W2001814436 @default.
- W2131730424 cites W2023560082 @default.
- W2131730424 cites W2024570817 @default.
- W2131730424 cites W2026654715 @default.
- W2131730424 cites W2035461331 @default.
- W2131730424 cites W2038635329 @default.
- W2131730424 cites W2057626992 @default.
- W2131730424 cites W2077210675 @default.
- W2131730424 cites W2078772015 @default.
- W2131730424 cites W2119718692 @default.
- W2131730424 doi "https://doi.org/10.1136/jmg.2003.014902" @default.
- W2131730424 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1735794" @default.
- W2131730424 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15173252" @default.
- W2131730424 hasPublicationYear "2004" @default.
- W2131730424 type Work @default.
- W2131730424 sameAs 2131730424 @default.
- W2131730424 citedByCount "15" @default.
- W2131730424 countsByYear W21317304242014 @default.
- W2131730424 countsByYear W21317304242018 @default.
- W2131730424 countsByYear W21317304242021 @default.
- W2131730424 countsByYear W21317304242022 @default.
- W2131730424 countsByYear W21317304242023 @default.
- W2131730424 crossrefType "journal-article" @default.
- W2131730424 hasAuthorship W2131730424A5001546169 @default.
- W2131730424 hasAuthorship W2131730424A5031636618 @default.
- W2131730424 hasAuthorship W2131730424A5064774147 @default.
- W2131730424 hasAuthorship W2131730424A5074370153 @default.
- W2131730424 hasAuthorship W2131730424A5082442398 @default.
- W2131730424 hasAuthorship W2131730424A5086550680 @default.
- W2131730424 hasAuthorship W2131730424A5090308794 @default.
- W2131730424 hasBestOaLocation W21317304241 @default.
- W2131730424 hasConcept C104317684 @default.
- W2131730424 hasConcept C126322002 @default.
- W2131730424 hasConcept C2775849878 @default.
- W2131730424 hasConcept C2775902910 @default.
- W2131730424 hasConcept C2779778433 @default.
- W2131730424 hasConcept C2780559512 @default.
- W2131730424 hasConcept C2781244666 @default.
- W2131730424 hasConcept C54355233 @default.
- W2131730424 hasConcept C71924100 @default.
- W2131730424 hasConcept C86803240 @default.
- W2131730424 hasConceptScore W2131730424C104317684 @default.
- W2131730424 hasConceptScore W2131730424C126322002 @default.
- W2131730424 hasConceptScore W2131730424C2775849878 @default.
- W2131730424 hasConceptScore W2131730424C2775902910 @default.
- W2131730424 hasConceptScore W2131730424C2779778433 @default.
- W2131730424 hasConceptScore W2131730424C2780559512 @default.
- W2131730424 hasConceptScore W2131730424C2781244666 @default.
- W2131730424 hasConceptScore W2131730424C54355233 @default.
- W2131730424 hasConceptScore W2131730424C71924100 @default.
- W2131730424 hasConceptScore W2131730424C86803240 @default.
- W2131730424 hasIssue "6" @default.
- W2131730424 hasLocation W21317304241 @default.
- W2131730424 hasLocation W21317304242 @default.
- W2131730424 hasLocation W21317304243 @default.
- W2131730424 hasLocation W21317304244 @default.
- W2131730424 hasOpenAccess W2131730424 @default.
- W2131730424 hasPrimaryLocation W21317304241 @default.
- W2131730424 hasRelatedWork W1535212598 @default.
- W2131730424 hasRelatedWork W1972494473 @default.
- W2131730424 hasRelatedWork W2156450132 @default.
- W2131730424 hasRelatedWork W2160095002 @default.
- W2131730424 hasRelatedWork W2184682475 @default.
- W2131730424 hasRelatedWork W2281409490 @default.
- W2131730424 hasRelatedWork W2600292455 @default.
- W2131730424 hasRelatedWork W3036292653 @default.
- W2131730424 hasRelatedWork W55716014 @default.
- W2131730424 hasRelatedWork W845708148 @default.
- W2131730424 hasVolume "41" @default.
- W2131730424 isParatext "false" @default.
- W2131730424 isRetracted "false" @default.
- W2131730424 magId "2131730424" @default.
- W2131730424 workType "article" @default.