FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1990268416> ?p ?o ?g. }

• W1990268416 endingPage "414" @default.
• W1990268416 startingPage "407" @default.
• W1990268416 abstract "Griscelli syndrome (GS), a rare autosomal recessive disorder, is characterized by partial albinism, along with immunologic abnormalities or severe neurological impairment or both. Mutations in one of two different genes on chromosome 15q can cause the different subtypes of GS. Most patients with GS display the hemophagocytic syndrome and have mutations in RAB27A, which codes for a small GTPase. Two patients with neurological involvement have mutations in MYO5A, which codes for an actin-based molecular motor. The RAB27A and MYO5A gene products interact with each other and function in vesicle trafficking. We report the molecular basis of GS in a Muslim Arab kindred whose members have extremely variable neurological involvement, along with the hemophagocytic syndrome and immunologic abnormalities. The patients have normal MYO5A genes but exhibit a homozygous 67.5-kb deletion that eliminates RAB27A mRNA and immunocytofluorescence-detectable protein. We also describe the molecular organization of RAB27A and a multiplex polymerase chain reaction assay for the founder deletion in this kindred. Finally, we propose that all patients with GS have RAB27A mutations and immunologic abnormalities that sometimes result in secondary neurological involvement. The two patients described elsewhere who have MYO5A mutations and neurological complications but no immunologic defects may not have GS but instead may have Elejalde syndrome, a condition characterized by mild hypopigmentation and severe, primary neurological abnormalities." @default.
• W1990268416 created "2016-06-24" @default.
• W1990268416 creator A5012011873 @default.
• W1990268416 creator A5015694876 @default.
• W1990268416 creator A5020638540 @default.
• W1990268416 creator A5022632845 @default.
• W1990268416 creator A5037547182 @default.
• W1990268416 creator A5044334201 @default.
• W1990268416 creator A5079956053 @default.
• W1990268416 creator A5082442398 @default.
• W1990268416 creator A5086550680 @default.
• W1990268416 creator A5088761709 @default.
• W1990268416 date "2002-08-01" @default.
• W1990268416 modified "2023-10-08" @default.
• W1990268416 title "Evidence that Griscelli Syndrome with Neurological Involvement Is Caused by Mutations in RAB27A, Not MYO5A" @default.
• W1990268416 cites W1489286522 @default.
• W1990268416 cites W1520255714 @default.
• W1990268416 cites W1606305740 @default.
• W1990268416 cites W1692009091 @default.
• W1990268416 cites W1717049970 @default.
• W1990268416 cites W1900434237 @default.
• W1990268416 cites W1922265191 @default.
• W1990268416 cites W1954276646 @default.
• W1990268416 cites W1982865150 @default.
• W1990268416 cites W1983007591 @default.
• W1990268416 cites W1986500992 @default.
• W1990268416 cites W1987945386 @default.
• W1990268416 cites W1994392314 @default.
• W1990268416 cites W1998153400 @default.
• W1990268416 cites W2002868110 @default.
• W1990268416 cites W2007171704 @default.
• W1990268416 cites W2008498649 @default.
• W1990268416 cites W2008620965 @default.
• W1990268416 cites W2008685692 @default.
• W1990268416 cites W2009758559 @default.
• W1990268416 cites W2013944173 @default.
• W1990268416 cites W2017222087 @default.
• W1990268416 cites W2024413347 @default.
• W1990268416 cites W2024782877 @default.
• W1990268416 cites W2036058134 @default.
• W1990268416 cites W2047137800 @default.
• W1990268416 cites W2050213416 @default.
• W1990268416 cites W2053462181 @default.
• W1990268416 cites W2058136968 @default.
• W1990268416 cites W2060035117 @default.
• W1990268416 cites W2065596115 @default.
• W1990268416 cites W2074209621 @default.
• W1990268416 cites W2080382520 @default.
• W1990268416 cites W2091747099 @default.
• W1990268416 cites W2098185580 @default.
• W1990268416 cites W2110278844 @default.
• W1990268416 cites W2128444868 @default.
• W1990268416 cites W2142285934 @default.
• W1990268416 cites W2156638024 @default.
• W1990268416 cites W2170844178 @default.
• W1990268416 cites W4245333883 @default.
• W1990268416 cites W96134844 @default.
• W1990268416 doi "https://doi.org/10.1086/341606" @default.
• W1990268416 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/379173" @default.
• W1990268416 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12058346" @default.
• W1990268416 hasPublicationYear "2002" @default.
• W1990268416 type Work @default.
• W1990268416 sameAs 1990268416 @default.
• W1990268416 citedByCount "72" @default.
• W1990268416 countsByYear W19902684162012 @default.
• W1990268416 countsByYear W19902684162013 @default.
• W1990268416 countsByYear W19902684162014 @default.
• W1990268416 countsByYear W19902684162015 @default.
• W1990268416 countsByYear W19902684162016 @default.
• W1990268416 countsByYear W19902684162017 @default.
• W1990268416 countsByYear W19902684162018 @default.
• W1990268416 countsByYear W19902684162019 @default.
• W1990268416 countsByYear W19902684162020 @default.
• W1990268416 countsByYear W19902684162021 @default.
• W1990268416 countsByYear W19902684162022 @default.
• W1990268416 countsByYear W19902684162023 @default.
• W1990268416 crossrefType "journal-article" @default.
• W1990268416 hasAuthorship W1990268416A5012011873 @default.
• W1990268416 hasAuthorship W1990268416A5015694876 @default.
• W1990268416 hasAuthorship W1990268416A5020638540 @default.
• W1990268416 hasAuthorship W1990268416A5022632845 @default.
• W1990268416 hasAuthorship W1990268416A5037547182 @default.
• W1990268416 hasAuthorship W1990268416A5044334201 @default.
• W1990268416 hasAuthorship W1990268416A5079956053 @default.
• W1990268416 hasAuthorship W1990268416A5082442398 @default.
• W1990268416 hasAuthorship W1990268416A5086550680 @default.
• W1990268416 hasAuthorship W1990268416A5088761709 @default.
• W1990268416 hasBestOaLocation W19902684161 @default.
• W1990268416 hasConcept C104317684 @default.
• W1990268416 hasConcept C2777607303 @default.
• W1990268416 hasConcept C2910905871 @default.
• W1990268416 hasConcept C501734568 @default.
• W1990268416 hasConcept C54355233 @default.
• W1990268416 hasConcept C86803240 @default.
• W1990268416 hasConcept C8891405 @default.
• W1990268416 hasConceptScore W1990268416C104317684 @default.
• W1990268416 hasConceptScore W1990268416C2777607303 @default.
• W1990268416 hasConceptScore W1990268416C2910905871 @default.

• next