FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1990954164> ?p ?o ?g. }

• W1990954164 endingPage "562" @default.
• W1990954164 startingPage "556" @default.
• W1990954164 abstract "Kym Boycott, Mark O'Driscoll and colleagues report identification of mutations in STAMBP, a gene encoding the deubiquitinating isopeptidase STAMBP, in individuals with microcephaly–capillary malformation syndrome. Microcephaly–capillary malformation (MIC-CAP) syndrome is characterized by severe microcephaly with progressive cortical atrophy, intractable epilepsy, profound developmental delay and multiple small capillary malformations on the skin. We used whole-exome sequencing of five patients with MIC-CAP syndrome and identified recessive mutations in STAMBP, a gene encoding the deubiquitinating (DUB) isopeptidase STAMBP (STAM-binding protein, also known as AMSH, associated molecule with the SH3 domain of STAM) that has a key role in cell surface receptor–mediated endocytosis and sorting. Patient cell lines showed reduced STAMBP expression associated with accumulation of ubiquitin-conjugated protein aggregates, elevated apoptosis and insensitive activation of the RAS-MAPK and PI3K-AKT-mTOR pathways. The latter cellular phenotype is notable considering the established connection between these pathways and their association with vascular and capillary malformations. Furthermore, our findings of a congenital human disorder caused by a defective DUB protein that functions in endocytosis implicates ubiquitin-conjugate aggregation and elevated apoptosis as factors potentially influencing the progressive neuronal loss underlying MIC-CAP syndrome." @default.
• W1990954164 created "2016-06-24" @default.
• W1990954164 creator A5003361977 @default.
• W1990954164 creator A5004716448 @default.
• W1990954164 creator A5026674181 @default.
• W1990954164 creator A5032746869 @default.
• W1990954164 creator A5033928852 @default.
• W1990954164 creator A5038553084 @default.
• W1990954164 creator A5040878528 @default.
• W1990954164 creator A5042463561 @default.
• W1990954164 creator A5043075977 @default.
• W1990954164 creator A5044504540 @default.
• W1990954164 creator A5054935472 @default.
• W1990954164 creator A5056775376 @default.
• W1990954164 creator A5057295149 @default.
• W1990954164 creator A5058116659 @default.
• W1990954164 creator A5058740801 @default.
• W1990954164 creator A5061462589 @default.
• W1990954164 creator A5064982358 @default.
• W1990954164 creator A5065051535 @default.
• W1990954164 creator A5067253402 @default.
• W1990954164 creator A5068311845 @default.
• W1990954164 creator A5068646283 @default.
• W1990954164 creator A5070240091 @default.
• W1990954164 creator A5073986889 @default.
• W1990954164 creator A5076034535 @default.
• W1990954164 creator A5078200499 @default.
• W1990954164 creator A5079778672 @default.
• W1990954164 creator A5081730724 @default.
• W1990954164 creator A5086299181 @default.
• W1990954164 creator A5090823515 @default.
• W1990954164 creator A5090917194 @default.
• W1990954164 date "2013-03-31" @default.
• W1990954164 modified "2023-10-14" @default.
• W1990954164 title "Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome" @default.
• W1990954164 cites W1573247099 @default.
• W1990954164 cites W1966037853 @default.
• W1990954164 cites W1966818689 @default.
• W1990954164 cites W1968569455 @default.
• W1990954164 cites W1973376683 @default.
• W1990954164 cites W1978691529 @default.
• W1990954164 cites W1981163839 @default.
• W1990954164 cites W1984068087 @default.
• W1990954164 cites W1990741894 @default.
• W1990954164 cites W1998079639 @default.
• W1990954164 cites W2002431049 @default.
• W1990954164 cites W2003125798 @default.
• W1990954164 cites W2005508652 @default.
• W1990954164 cites W2011167341 @default.
• W1990954164 cites W2020288988 @default.
• W1990954164 cites W2022407169 @default.
• W1990954164 cites W2031873978 @default.
• W1990954164 cites W2038460683 @default.
• W1990954164 cites W2057036500 @default.
• W1990954164 cites W2058056541 @default.
• W1990954164 cites W2058913715 @default.
• W1990954164 cites W2069212881 @default.
• W1990954164 cites W2100423216 @default.
• W1990954164 cites W2106969933 @default.
• W1990954164 cites W2108234281 @default.
• W1990954164 cites W2120291175 @default.
• W1990954164 cites W2134331483 @default.
• W1990954164 cites W2155501369 @default.
• W1990954164 cites W2158866061 @default.
• W1990954164 cites W4206073004 @default.
• W1990954164 cites W4247053599 @default.
• W1990954164 doi "https://doi.org/10.1038/ng.2602" @default.
• W1990954164 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4000253" @default.
• W1990954164 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23542699" @default.
• W1990954164 hasPublicationYear "2013" @default.
• W1990954164 type Work @default.
• W1990954164 sameAs 1990954164 @default.
• W1990954164 citedByCount "90" @default.
• W1990954164 countsByYear W19909541642013 @default.
• W1990954164 countsByYear W19909541642014 @default.
• W1990954164 countsByYear W19909541642015 @default.
• W1990954164 countsByYear W19909541642016 @default.
• W1990954164 countsByYear W19909541642017 @default.
• W1990954164 countsByYear W19909541642018 @default.
• W1990954164 countsByYear W19909541642019 @default.
• W1990954164 countsByYear W19909541642020 @default.
• W1990954164 countsByYear W19909541642021 @default.
• W1990954164 countsByYear W19909541642022 @default.
• W1990954164 countsByYear W19909541642023 @default.
• W1990954164 crossrefType "journal-article" @default.
• W1990954164 hasAuthorship W1990954164A5003361977 @default.
• W1990954164 hasAuthorship W1990954164A5004716448 @default.
• W1990954164 hasAuthorship W1990954164A5026674181 @default.
• W1990954164 hasAuthorship W1990954164A5032746869 @default.
• W1990954164 hasAuthorship W1990954164A5033928852 @default.
• W1990954164 hasAuthorship W1990954164A5038553084 @default.
• W1990954164 hasAuthorship W1990954164A5040878528 @default.
• W1990954164 hasAuthorship W1990954164A5042463561 @default.
• W1990954164 hasAuthorship W1990954164A5043075977 @default.
• W1990954164 hasAuthorship W1990954164A5044504540 @default.
• W1990954164 hasAuthorship W1990954164A5054935472 @default.
• W1990954164 hasAuthorship W1990954164A5056775376 @default.
• W1990954164 hasAuthorship W1990954164A5057295149 @default.

• next