Associated Papers
Hepatic ribosomal protein S6 (Rps6) insufficiency results in failed bile duct development and loss of hepatocyte viability; a ribosomopathy-like phenotype that is partially p53-dependent.
Comerford SA et al.
Plos Genetics, 2023
Uncovering the assembly pathway of human ribosomes and its emerging links to disease.
Bohnsack KE et al.
The Embo Journal, 2019
RPSA, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in Xenopus.
Griffin JN et al.
Development (cambridge, England), 2018
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Rodriguez-Flores JL et al.
Human Mutation, 2014
Alagille syndrome and other hereditary causes of cholestasis.
Hartley JL et al.
Clinics in Liver Disease, 2013
p53-mediated biliary defects caused by knockdown of cirh1a, the zebrafish homolog of the gene responsible for North American Indian Childhood Cirrhosis.
Wilkins BJ et al.
Plos One, 2013
NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing.
Freed EF et al.
Plos Genetics, 2012
Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1.
Yu B et al.
Experimental Cell Research, 2009
Progressive familial intrahepatic cholestasis.
Davit-Spraul A et al.
Orphanet Journal of Rare Diseases, 2009
[North American Indian childhood cirrhosis (NAIC)].
Richter A et al.
Medecine Sciences : M/s, 2007
An autosomal recessive form of Alagille-like syndrome that is not linked to JAG1.
Dyack S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis.
Yu B et al.
Experimental Cell Research, 2005
A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.
Chagnon P et al.
American Journal of Human Genetics, 2002
Progressive familial intrahepatic cholestasis: an update.
Knisely AS
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0