ArticleAmerican journal of human genetics2002
A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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Who cites it
48 citing papers in PubMed, 118 citations in OpenAlex.
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- Integrated multi-omics analysis reveals NOL11 as a novel prognostic biomarker for hepatocellular carcinoma.BMC cancer · 2025Article
- Mechanisms of ribosomopathy and phase separation-related ribosomopathy.Journal of Zhejiang University. Science. B · 2025Review
- Potentials of ribosomopathy gene as pharmaceutical targets for cancer treatment.Journal of pharmaceutical analysis · 2024Review
- Low expression of SLC34A1 is associated with poor prognosis in clear cell renal cell carcinoma.BMC urology · 2023Article
- Ribosome biogenesis and function in development and disease.Development (Cambridge, England) · 2023Review
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- Roles of ribosomal RNA in health and disease.Frontiers in RNA research · 2023Article
- HMG-boxes, ribosomopathies and neurodegenerative disease.Frontiers in genetics · 2023Review
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- Early predictors of unfavourable outcome in progressive cholestasis of northwestern Quebec.Canadian liver journal · 2022Article
- Nucleolar maturation of the human small subunit processome.Science (New York, N.Y.) · 2021Article
- Review
- How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies.Cells · 2020Review
- Ribosomopathies: New Therapeutic Perspectives.Cells · 2020Review
- Identification of a novel nucleolar protein complex required for mitotic chromosome segregation through centromeric accumulation of Aurora B.Nucleic acids research · 2020Article
- Ribosomopathies: Old Concepts, New Controversies.Trends in genetics : TIG · 2019Review
- Ribosome assembly coming into focus.Nature reviews. Molecular cell biology · 2019Review
- Genome Wide Analysis of WD40 Proteins in Saccharomyces cerevisiae and Their Orthologs in Candida albicans.The protein journal · 2019Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
North American Indian childhood cirrhosis (CIRH1A, or NAIC), a severe autosomal recessive intrahepatic cholestasis described in Ojibway-Cree children from northwestern Quebec, is one of several familial cholestases with unknown molecular etiology. It typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. Clinical and physiological investigations have not revealed the underlying cause of the disease. Currently, liver transplantation is the only effective therapy for patients with advanced disease. We previously identified the NAIC locus by homozygosity mapping to chromosome 16q22. Here we report that an exon 15 mutation in gene FLJ14728 (alias Cirhin) causes NAIC: c.1741C-->T in GenBank cDNA sequence NM_032830, found in all NAIC chromosomes, changes the conserved arginine 565 codon to a tryptophan, altering the predicted secondary structure of the protein. Cirhin is preferentially expressed in embryonic liver, is predicted to localize to mitochondria, and contains WD repeats, which are structural motifs frequently associated with molecular scaffolds.
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