FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000519189> ?p ?o ?g. }

• W2000519189 endingPage "1734" @default.
• W2000519189 startingPage "1729" @default.
• W2000519189 abstract "A consanguineous Bedouin Israeli kindred presented with a novel autosomal recessive intellectual disability syndrome of congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows with sparse hair in their medial segment. Brain imaging demonstrated various degrees of agenesis of corpus callosum and hypoplasia of the vermis and cerebellum. Genome-wide linkage analysis followed by fine mapping defined a 7.67 Mb disease-associated locus (LOD score 4.99 at θ=0 for marker D10S1653). Sequencing of the 48 genes within the locus identified a single non-synonymous homozygous duplication frameshift mutation of 13 nucleotides (c.2134_2146dup13) within the coding region of FRMD4A, that was common to all affected individuals and not found in 180 non-related Bedouin controls. Three of 50 remotely related healthy controls of the same tribe were heterozygous for the mutation. FRMD4A, member of the FERM superfamily, is involved in cell structure, transport and signaling. It regulates cell polarity by playing an important role in the activation of ARF6, mediating the interaction between Par3 and the ARF6 guanine nucleotide exchange factor. ARF6 is known to modulate cell polarity in neurons, and regulates dendritic branching in hippocampal neurons and neurite outgrowth. The FRMD4 domain that is essential for determining cell polarity through interaction with Par3 is truncated by the c.2134_2146dup13 mutation. FRMD4A polymorphisms were recently suggested to be a risk factor for Alzheimer's disease. We now show a homozygous frameshift mutation of the same gene in a severe neurologic syndrome with unique dysmorphism." @default.
• W2000519189 created "2016-06-24" @default.
• W2000519189 creator A5011592963 @default.
• W2000519189 creator A5015278689 @default.
• W2000519189 creator A5018979483 @default.
• W2000519189 creator A5029156771 @default.
• W2000519189 creator A5045742262 @default.
• W2000519189 creator A5046543899 @default.
• W2000519189 creator A5046797415 @default.
• W2000519189 creator A5050398512 @default.
• W2000519189 creator A5056073721 @default.
• W2000519189 creator A5073453884 @default.
• W2000519189 creator A5083629579 @default.
• W2000519189 creator A5087255272 @default.
• W2000519189 date "2014-11-12" @default.
• W2000519189 modified "2023-10-16" @default.
• W2000519189 title "A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A" @default.
• W2000519189 cites W1986361288 @default.
• W2000519189 cites W2001581532 @default.
• W2000519189 cites W2002798737 @default.
• W2000519189 cites W2002812438 @default.
• W2000519189 cites W2003257408 @default.
• W2000519189 cites W2011476938 @default.
• W2000519189 cites W2070363338 @default.
• W2000519189 cites W2073624213 @default.
• W2000519189 cites W2077040143 @default.
• W2000519189 cites W2112369131 @default.
• W2000519189 cites W2138023910 @default.
• W2000519189 cites W2165952534 @default.
• W2000519189 doi "https://doi.org/10.1038/ejhg.2014.241" @default.
• W2000519189 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4795192" @default.
• W2000519189 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25388005" @default.
• W2000519189 hasPublicationYear "2014" @default.
• W2000519189 type Work @default.
• W2000519189 sameAs 2000519189 @default.
• W2000519189 citedByCount "12" @default.
• W2000519189 countsByYear W20005191892016 @default.
• W2000519189 countsByYear W20005191892017 @default.
• W2000519189 countsByYear W20005191892018 @default.
• W2000519189 countsByYear W20005191892019 @default.
• W2000519189 countsByYear W20005191892020 @default.
• W2000519189 countsByYear W20005191892021 @default.
• W2000519189 countsByYear W20005191892022 @default.
• W2000519189 crossrefType "journal-article" @default.
• W2000519189 hasAuthorship W2000519189A5011592963 @default.
• W2000519189 hasAuthorship W2000519189A5015278689 @default.
• W2000519189 hasAuthorship W2000519189A5018979483 @default.
• W2000519189 hasAuthorship W2000519189A5029156771 @default.
• W2000519189 hasAuthorship W2000519189A5045742262 @default.
• W2000519189 hasAuthorship W2000519189A5046543899 @default.
• W2000519189 hasAuthorship W2000519189A5046797415 @default.
• W2000519189 hasAuthorship W2000519189A5050398512 @default.
• W2000519189 hasAuthorship W2000519189A5056073721 @default.
• W2000519189 hasAuthorship W2000519189A5073453884 @default.
• W2000519189 hasAuthorship W2000519189A5083629579 @default.
• W2000519189 hasAuthorship W2000519189A5087255272 @default.
• W2000519189 hasBestOaLocation W20005191891 @default.
• W2000519189 hasConcept C104317684 @default.
• W2000519189 hasConcept C2776395126 @default.
• W2000519189 hasConcept C2778085061 @default.
• W2000519189 hasConcept C29906990 @default.
• W2000519189 hasConcept C501734568 @default.
• W2000519189 hasConcept C51816534 @default.
• W2000519189 hasConcept C54355233 @default.
• W2000519189 hasConcept C551499885 @default.
• W2000519189 hasConcept C7602840 @default.
• W2000519189 hasConcept C84597430 @default.
• W2000519189 hasConcept C86339819 @default.
• W2000519189 hasConcept C86803240 @default.
• W2000519189 hasConceptScore W2000519189C104317684 @default.
• W2000519189 hasConceptScore W2000519189C2776395126 @default.
• W2000519189 hasConceptScore W2000519189C2778085061 @default.
• W2000519189 hasConceptScore W2000519189C29906990 @default.
• W2000519189 hasConceptScore W2000519189C501734568 @default.
• W2000519189 hasConceptScore W2000519189C51816534 @default.
• W2000519189 hasConceptScore W2000519189C54355233 @default.
• W2000519189 hasConceptScore W2000519189C551499885 @default.
• W2000519189 hasConceptScore W2000519189C7602840 @default.
• W2000519189 hasConceptScore W2000519189C84597430 @default.
• W2000519189 hasConceptScore W2000519189C86339819 @default.
• W2000519189 hasConceptScore W2000519189C86803240 @default.
• W2000519189 hasIssue "12" @default.
• W2000519189 hasLocation W20005191891 @default.
• W2000519189 hasLocation W20005191892 @default.
• W2000519189 hasLocation W20005191893 @default.
• W2000519189 hasLocation W20005191894 @default.
• W2000519189 hasOpenAccess W2000519189 @default.
• W2000519189 hasPrimaryLocation W20005191891 @default.
• W2000519189 hasRelatedWork W1976591027 @default.
• W2000519189 hasRelatedWork W1985200219 @default.
• W2000519189 hasRelatedWork W1999900165 @default.
• W2000519189 hasRelatedWork W2116219739 @default.
• W2000519189 hasRelatedWork W2120767478 @default.
• W2000519189 hasRelatedWork W2524855448 @default.
• W2000519189 hasRelatedWork W2794896180 @default.
• W2000519189 hasRelatedWork W3196710090 @default.
• W2000519189 hasRelatedWork W4243457127 @default.
• W2000519189 hasRelatedWork W4288926736 @default.

• next