Matches in SemOpenAlex for { <https://semopenalex.org/work/W2910365862> ?p ?o ?g. }
- W2910365862 endingPage "662" @default.
- W2910365862 startingPage "657" @default.
- W2910365862 abstract "The centrosomal protein 55 kDa (CEP55 (OMIM 610000)) plays a fundamental role in cell cycle regulation and cytokinesis. However, the precise role of CEP55 in human embryonic growth and development is yet to be fully defined. Here we identified a novel homozygous founder frameshift variant in CEP55, present at low frequency in the Amish community, in two siblings presenting with a lethal foetal disorder. The features of the condition are reminiscent of a Meckel-like syndrome comprising of Potter sequence, hydranencephaly, and cystic dysplastic kidneys. These findings, considered alongside two recent studies of single families reporting loss of function candidate variants in CEP55, confirm disruption of CEP55 function as a cause of this clinical spectrum and enable us to delineate the cardinal clinical features of this disorder, providing important new insights into early human development." @default.
- W2910365862 created "2019-01-25" @default.
- W2910365862 creator A5032533947 @default.
- W2910365862 creator A5041499971 @default.
- W2910365862 creator A5045424496 @default.
- W2910365862 creator A5049534164 @default.
- W2910365862 creator A5057737475 @default.
- W2910365862 creator A5065532717 @default.
- W2910365862 creator A5072713137 @default.
- W2910365862 creator A5077531402 @default.
- W2910365862 creator A5081656089 @default.
- W2910365862 creator A5084653587 @default.
- W2910365862 creator A5089680054 @default.
- W2910365862 creator A5089710613 @default.
- W2910365862 date "2019-01-08" @default.
- W2910365862 modified "2023-10-12" @default.
- W2910365862 title "An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia" @default.
- W2910365862 cites W1542172581 @default.
- W2910365862 cites W1994234309 @default.
- W2910365862 cites W1995508411 @default.
- W2910365862 cites W1996069794 @default.
- W2910365862 cites W2012398124 @default.
- W2910365862 cites W2013914675 @default.
- W2910365862 cites W2014878885 @default.
- W2910365862 cites W2047246023 @default.
- W2910365862 cites W2065164168 @default.
- W2910365862 cites W2092736758 @default.
- W2910365862 cites W2098334616 @default.
- W2910365862 cites W2101696598 @default.
- W2910365862 cites W2176482710 @default.
- W2910365862 cites W2593932707 @default.
- W2910365862 cites W2602562537 @default.
- W2910365862 cites W4297170642 @default.
- W2910365862 doi "https://doi.org/10.1038/s41431-018-0306-0" @default.
- W2910365862 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6420058" @default.
- W2910365862 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30622327" @default.
- W2910365862 hasPublicationYear "2019" @default.
- W2910365862 type Work @default.
- W2910365862 sameAs 2910365862 @default.
- W2910365862 citedByCount "20" @default.
- W2910365862 countsByYear W29103658622019 @default.
- W2910365862 countsByYear W29103658622020 @default.
- W2910365862 countsByYear W29103658622021 @default.
- W2910365862 countsByYear W29103658622022 @default.
- W2910365862 crossrefType "journal-article" @default.
- W2910365862 hasAuthorship W2910365862A5032533947 @default.
- W2910365862 hasAuthorship W2910365862A5041499971 @default.
- W2910365862 hasAuthorship W2910365862A5045424496 @default.
- W2910365862 hasAuthorship W2910365862A5049534164 @default.
- W2910365862 hasAuthorship W2910365862A5057737475 @default.
- W2910365862 hasAuthorship W2910365862A5065532717 @default.
- W2910365862 hasAuthorship W2910365862A5072713137 @default.
- W2910365862 hasAuthorship W2910365862A5077531402 @default.
- W2910365862 hasAuthorship W2910365862A5081656089 @default.
- W2910365862 hasAuthorship W2910365862A5084653587 @default.
- W2910365862 hasAuthorship W2910365862A5089680054 @default.
- W2910365862 hasAuthorship W2910365862A5089710613 @default.
- W2910365862 hasBestOaLocation W29103658621 @default.
- W2910365862 hasConcept C104317684 @default.
- W2910365862 hasConcept C105951970 @default.
- W2910365862 hasConcept C12387725 @default.
- W2910365862 hasConcept C127716648 @default.
- W2910365862 hasConcept C1491633281 @default.
- W2910365862 hasConcept C172680121 @default.
- W2910365862 hasConcept C2779234561 @default.
- W2910365862 hasConcept C2780513411 @default.
- W2910365862 hasConcept C29906990 @default.
- W2910365862 hasConcept C45472230 @default.
- W2910365862 hasConcept C501734568 @default.
- W2910365862 hasConcept C54355233 @default.
- W2910365862 hasConcept C85813293 @default.
- W2910365862 hasConcept C86803240 @default.
- W2910365862 hasConceptScore W2910365862C104317684 @default.
- W2910365862 hasConceptScore W2910365862C105951970 @default.
- W2910365862 hasConceptScore W2910365862C12387725 @default.
- W2910365862 hasConceptScore W2910365862C127716648 @default.
- W2910365862 hasConceptScore W2910365862C1491633281 @default.
- W2910365862 hasConceptScore W2910365862C172680121 @default.
- W2910365862 hasConceptScore W2910365862C2779234561 @default.
- W2910365862 hasConceptScore W2910365862C2780513411 @default.
- W2910365862 hasConceptScore W2910365862C29906990 @default.
- W2910365862 hasConceptScore W2910365862C45472230 @default.
- W2910365862 hasConceptScore W2910365862C501734568 @default.
- W2910365862 hasConceptScore W2910365862C54355233 @default.
- W2910365862 hasConceptScore W2910365862C85813293 @default.
- W2910365862 hasConceptScore W2910365862C86803240 @default.
- W2910365862 hasIssue "4" @default.
- W2910365862 hasLocation W29103658621 @default.
- W2910365862 hasLocation W29103658622 @default.
- W2910365862 hasLocation W29103658623 @default.
- W2910365862 hasLocation W29103658624 @default.
- W2910365862 hasLocation W29103658625 @default.
- W2910365862 hasOpenAccess W2910365862 @default.
- W2910365862 hasPrimaryLocation W29103658621 @default.
- W2910365862 hasRelatedWork W1968470805 @default.
- W2910365862 hasRelatedWork W2059327830 @default.
- W2910365862 hasRelatedWork W2102132383 @default.
- W2910365862 hasRelatedWork W2145532500 @default.