An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia

scientific article published on 08 January 2019

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1038/S41431-018-0306-0
P932PMC publication ID6420058
P698PubMed publication ID30622327

P50authorBarry A ChiozaQ41928158
Matthew WakelingQ58327175
James FashamQ64590609
Emma BapleQ84573349
P2093author name stringSian Ellard
Alexander Miron
Hannah Jones
Andrew H Crosby
Gaurav V Harlalka
Lettie E Rawlins
Olivia Wenger
Myat Aye
P2860cites workCep55, a microtubule-bundling protein, associates with centralspindlin to control the midbody integrity and cell abscission during cytokinesisQ24670163
Cep55 regulates spindle organization and cell cycle progression in meiotic oocyte.Q27305285
Midbody Targeting of the ESCRT Machinery by a Noncanonical Coiled Coil in CEP55Q27652632
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosisQ33886249
Cdk1/Erk2- and Plk1-dependent phosphorylation of a centrosome protein, Cep55, is required for its recruitment to midbody and cytokinesis.Q34455814
FLJ10540-elicited cell transformation is through the activation of PI3-kinase/AKT pathwayQ34604380
Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in EuropeQ36695145
Hydranencephaly with renal dysgenesis: a coincidental finding? Case report with review of the literatureQ41634707
Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.Q46079806
A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.Q48126211
Antenatal ultrasound diagnosis of an unusual case of hydranencephalyQ48628545
The Potter sequence: a clinical analysis of 80 casesQ70406570
P433issue4
P921main subjectRenal dysplasiaQ24284107
P304page(s)657-662
P577publication date2019-01-08
P1433published inEuropean Journal of Human GeneticsQ2155433
P1476titleAn Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia
P478volume27

Reverse relations

cites work (P2860)
Q100762053Cep55 overexpression promotes genomic instability and tumorigenesis in mice
Q91738792Cep55 promotes cytokinesis of neural progenitors but is dispensable for most mammalian cell divisions
Q92706401Delineating the expanding phenotype associated with SCAPER gene mutation
Q90668992Two NEMO-like Ubiquitin-Binding Domains in CEP55 Differently Regulate Cytokinesis

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