A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis
about
BMS1 is mutated in aplasia cutis congenitaNOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processingProgressive familial intrahepatic cholestasisRibosomopathies: Global process, tissue specific defectsRibosomopathies: how a common root can cause a tree of pathologiesHuman diseases of the SSU processomeAnalysis of protein-coding genetic variation in 60,706 humansDiverse diseases from a ubiquitous process: the ribosomopathy paradoxThe DEAD-box RNA helicase-like Utp25 is an SSU processome component.Recruitment of factors linking transcription and processing of pre-rRNA to NOR chromatin is UBF-dependent and occurs independent of transcription in human cellsThe C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis.Identification of putative cancer genes through data integration and comparative genomics between plants and humans.When ribosomes go bad: diseases of ribosome biogenesis.Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.Ribosomopathies: mechanisms of disease.CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.p53-mediated biliary defects caused by knockdown of cirh1a, the zebrafish homolog of the gene responsible for North American Indian Childhood CirrhosisGenetics of familial intrahepatic cholestasis syndromes.The ribosome biogenesis factor Nol11 is required for optimal rDNA transcription and craniofacial development in XenopusExpression of ribosomopathy genes during Xenopus tropicalis embryogenesis.An autosomal recessive form of Alagille-like syndrome that is not linked to JAG1.Chronic liver disease in Aboriginal North Americans.Ribosome biogenesis in the yeast Saccharomyces cerevisiaeTissue specific roles for the ribosome biogenesis factor Wdr43 in zebrafish development.The roles of SSU processome components and surveillance factors in the initial processing of human ribosomal RNA.The Contributions of the Ribosome Biogenesis Protein Utp5/WDR43 to Craniofacial DevelopmentFungal Ribotoxins: A Review of Potential Biotechnological Applications.Platelet adhesion in hypertension: application of a novel assay of platelet adhesion.RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec.Ribosomopathies: There's strength in numbers., a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in
P2860
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P2860
A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis
description
2002 nî lūn-bûn
@nan
2002 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
A missense mutation (R565W) in ...... can Indian childhood cirrhosis
@ast
A missense mutation (R565W) in ...... can Indian childhood cirrhosis
@en
A missense mutation (R565W) in ...... can Indian childhood cirrhosis
@nl
type
label
A missense mutation (R565W) in ...... can Indian childhood cirrhosis
@ast
A missense mutation (R565W) in ...... can Indian childhood cirrhosis
@en
A missense mutation (R565W) in ...... can Indian childhood cirrhosis
@nl
prefLabel
A missense mutation (R565W) in ...... can Indian childhood cirrhosis
@ast
A missense mutation (R565W) in ...... can Indian childhood cirrhosis
@en
A missense mutation (R565W) in ...... can Indian childhood cirrhosis
@nl
P2093
P2860
P50
P3181
P356
P1476
A missense mutation (R565W) in ...... can Indian childhood cirrhosis
@en
P2093
Andrée Rasquin-Weber
Eric Drouin
Grant Mitchell
Jacques Michaud
Jean-François Marion
Pierre Chagnon
P2860
P304
P3181
P356
10.1086/344580
P407
P577
2002-12-01T00:00:00Z