FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2114563969> ?p ?o ?g. }

• W2114563969 endingPage "265" @default.
• W2114563969 startingPage "259" @default.
• W2114563969 abstract "The CATCH 22 acronym outlines the main clinical features of 22q11.2 deletions (cardiac defects, abnormal facies, thymic hypoplasia, cleft palate and hypocalcemia), usually found in DiGeorge (DGS) and velo-cardio-facial (VCFS) syndromes. Hemizygosity of this region may also be the cause of over 100 different clinical signs. The CATCH 22 locus maps within a 1.5 Mb region, which encompasses several genes. However, no single defect in 22q11.2 hemizygous patients can be ascribed to any gene so far isolated from the critical region of deletion. We have identified a gene in the CATCH 22 critical region, whose functional features and tissue-specific expression suggest a distinct role in embryogenesis. This gene, UFD1L, encodes the human homolog of the yeast ubiquitin fusion degradation 1 protein (UFD1 p), involved in the degradation of ubiquitin fusion proteins. Cloning and characterization of the murine homolog (Ufd1l) showed it to be expressed during embryogenesis in the eyes and in the inner ear primordia. These data suggest that the proteolytic pathway that recognizes ubiquitin fusion proteins for degradation is conserved in vertebrates and that the UFD1L gene hemizygosity is the cause of some of the CATCH 22-associated developmental defects." @default.
• W2114563969 created "2016-06-24" @default.
• W2114563969 creator A5012180571 @default.
• W2114563969 creator A5018532888 @default.
• W2114563969 creator A5021084166 @default.
• W2114563969 creator A5021687223 @default.
• W2114563969 creator A5025840282 @default.
• W2114563969 creator A5028970388 @default.
• W2114563969 creator A5037841229 @default.
• W2114563969 creator A5041715017 @default.
• W2114563969 creator A5045323815 @default.
• W2114563969 creator A5086375346 @default.
• W2114563969 creator A5086706420 @default.
• W2114563969 creator A5088239162 @default.
• W2114563969 date "1997-02-01" @default.
• W2114563969 modified "2023-10-16" @default.
• W2114563969 title "UFD1L, a Developmentally Expressed Ubiquitination Gene, is Deleted in CATCH 22 Syndrome" @default.
• W2114563969 cites W172906062 @default.
• W2114563969 cites W1919337880 @default.
• W2114563969 cites W1964878890 @default.
• W2114563969 cites W1971068882 @default.
• W2114563969 cites W1975449325 @default.
• W2114563969 cites W1980477780 @default.
• W2114563969 cites W1984772359 @default.
• W2114563969 cites W1984853905 @default.
• W2114563969 cites W1987467454 @default.
• W2114563969 cites W1991101546 @default.
• W2114563969 cites W1993056927 @default.
• W2114563969 cites W1996124672 @default.
• W2114563969 cites W1997566038 @default.
• W2114563969 cites W2000532324 @default.
• W2114563969 cites W2005034673 @default.
• W2114563969 cites W2011872927 @default.
• W2114563969 cites W2016322618 @default.
• W2114563969 cites W2021338904 @default.
• W2114563969 cites W2021722734 @default.
• W2114563969 cites W2037241011 @default.
• W2114563969 cites W2038650228 @default.
• W2114563969 cites W2053295178 @default.
• W2114563969 cites W2055677481 @default.
• W2114563969 cites W2072688035 @default.
• W2114563969 cites W2073302508 @default.
• W2114563969 cites W2076544111 @default.
• W2114563969 cites W2077361732 @default.
• W2114563969 cites W2079934630 @default.
• W2114563969 cites W2085903691 @default.
• W2114563969 cites W2087768213 @default.
• W2114563969 cites W2089491811 @default.
• W2114563969 cites W2106038284 @default.
• W2114563969 cites W2115414474 @default.
• W2114563969 cites W2144530843 @default.
• W2114563969 cites W2235416155 @default.
• W2114563969 doi "https://doi.org/10.1093/hmg/6.2.259" @default.
• W2114563969 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9063746" @default.
• W2114563969 hasPublicationYear "1997" @default.
• W2114563969 type Work @default.
• W2114563969 sameAs 2114563969 @default.
• W2114563969 citedByCount "81" @default.
• W2114563969 countsByYear W21145639692012 @default.
• W2114563969 countsByYear W21145639692013 @default.
• W2114563969 countsByYear W21145639692022 @default.
• W2114563969 crossrefType "journal-article" @default.
• W2114563969 hasAuthorship W2114563969A5012180571 @default.
• W2114563969 hasAuthorship W2114563969A5018532888 @default.
• W2114563969 hasAuthorship W2114563969A5021084166 @default.
• W2114563969 hasAuthorship W2114563969A5021687223 @default.
• W2114563969 hasAuthorship W2114563969A5025840282 @default.
• W2114563969 hasAuthorship W2114563969A5028970388 @default.
• W2114563969 hasAuthorship W2114563969A5037841229 @default.
• W2114563969 hasAuthorship W2114563969A5041715017 @default.
• W2114563969 hasAuthorship W2114563969A5045323815 @default.
• W2114563969 hasAuthorship W2114563969A5086375346 @default.
• W2114563969 hasAuthorship W2114563969A5086706420 @default.
• W2114563969 hasAuthorship W2114563969A5088239162 @default.
• W2114563969 hasBestOaLocation W21145639691 @default.
• W2114563969 hasConcept C104317684 @default.
• W2114563969 hasConcept C111829193 @default.
• W2114563969 hasConcept C123894998 @default.
• W2114563969 hasConcept C134459356 @default.
• W2114563969 hasConcept C25602115 @default.
• W2114563969 hasConcept C2779688345 @default.
• W2114563969 hasConcept C2911199164 @default.
• W2114563969 hasConcept C3020804800 @default.
• W2114563969 hasConcept C40767141 @default.
• W2114563969 hasConcept C54355233 @default.
• W2114563969 hasConcept C84597430 @default.
• W2114563969 hasConcept C86803240 @default.
• W2114563969 hasConcept C95444343 @default.
• W2114563969 hasConceptScore W2114563969C104317684 @default.
• W2114563969 hasConceptScore W2114563969C111829193 @default.
• W2114563969 hasConceptScore W2114563969C123894998 @default.
• W2114563969 hasConceptScore W2114563969C134459356 @default.
• W2114563969 hasConceptScore W2114563969C25602115 @default.
• W2114563969 hasConceptScore W2114563969C2779688345 @default.
• W2114563969 hasConceptScore W2114563969C2911199164 @default.
• W2114563969 hasConceptScore W2114563969C3020804800 @default.
• W2114563969 hasConceptScore W2114563969C40767141 @default.
• W2114563969 hasConceptScore W2114563969C54355233 @default.

• next