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Cirrhosis, autosomal recessive 1A

NAIC, CIRH1A, Cirhin
This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Schnurri, fibrillin-1, epoxide hydrolase, HAD, NF-kappaB
Papers using NAIC antibodies
SMART 6: recent updates and new developments
Supplier
Ellis Steven R., In PLoS Genetics, 2008
... Full-length hUTP4/Cirhin or a C-terminal fragment of hUTP4/Cirhin was amplified by PCR and then subcloned into the pGBK vector (Clontech) between the EcoRI and ...
Papers on NAIC
Dynamics of WD-repeat containing proteins in SSU processome components.
Horigome et al., Niigata, Japan. In Biochem Cell Biol, 2014
In these proteins, t-UTP sub-complex components, i.e., CIRH1A, UTP15, and WDR43, were shown to be immobilized in the fibrillar centers of nucleoli in living cells.
Human diseases of the SSU processome.
Review
Baserga et al., New Haven, United States. In Biochim Biophys Acta, 2014
Three SSU processome components and their related human diseases will be explored in this review: hUTP4/Cirhin, implicated in North American Indian childhood cirrhosis (NAIC); UTP14, implicated in infertility, ovarian cancer, and scleroderma; and EMG1, implicated in Bowen-Conradi syndrome (BCS).
Interaction, mobility, and phosphorylation of human orthologues of WD repeat-containing components of the yeast SSU processome t-UTP sub-complex.
Horigome et al., Niigata, Japan. In Biochem Cell Biol, 2013
In this study, three WD-repeat proteins, i.e., CIRH1A, UTP15, and WDR43, were found in the nuclear matrix fraction and speculated to be present in the human t-UTP sub-complex of SSU processomes.
p53-mediated biliary defects caused by knockdown of cirh1a, the zebrafish homolog of the gene responsible for North American Indian Childhood Cirrhosis.
Pack et al., Philadelphia, United States. In Plos One, 2012
All NAIC patients are homozygous for a missense mutation (R565W) in CIRH1A, the human homolog of the yeast nucleolar protein Utp4.
NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing.
Baserga et al., New Haven, United States. In Plos Genet, 2011
Our objective was to identify non-conserved interaction partners for the human ribosome biogenesis factor, hUTP4/Cirhin, since the R565W mutation in the C-terminus of hUTP4/Cirhin was reported to cause North American Indian childhood cirrhosis (NAIC).
The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis.
Baserga et al., New Haven, United States. In Nucleic Acids Res, 2010
Recently, a missense mutation in the C-terminus of an SSU processome protein, Utp4/Cirhin, was reported to cause North American Indian childhood cirrhosis (NAIC).
Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1.
GeneRIF
Richter et al., Montréal, Canada. In Exp Cell Res, 2009
Cirhin is a transcriptional regulatory factor of this NF-kappaB sequence and could be a participant in the regulation of other genes with NF-kappaB responsive elements.
[North American Indian childhood cirrhosis (NAIC)].
Rasquin et al., Montréal, Canada. In Med Sci (paris), 2007
We mapped NAIC to chromosome 16q22, and identified mutations in CIRH1A in patients.
Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis.
GeneRIF
Richter et al., Montréal, Canada. In Exp Cell Res, 2006
Cirhin is a nucleolar protein and the R565W mutation, for which all North American Indian childhood cirrhosis patients are homozygous, has no effect on subcellular localization.
Molecular basis of intrahepatic cholestasis.
Review
Bull et al., San Francisco, United States. In Ann Med, 2003
A CLDN1 mutation was recently reported in patients with ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis (ILVASC), and North American Indian childhood cirrhosis (NAIC) is associated with a missense mutation in CIRH1A.
A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.
GeneRIF
Richter et al., Montréal, Canada. In Am J Hum Genet, 2002
A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis
North American Indian cirrhosis in children: a review of 30 cases.
Rasquin-Weber et al., Montréal, Canada. In J Pediatr Gastroenterol Nutr, 2000
BACKGROUND: North American Indian childhood cirrhosis (NAIC) is a distinct, rapidly evolving form of familial cholestasis found in aboriginal children from northwestern Quebec.
Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype.
Mitchell et al., Montréal, Canada. In Am J Hum Genet, 2000
North American Indian childhood cirrhosis (NAIC, or CIRH1A) is an isolated nonsyndromic form of familial cholestasis reported in Ojibway-Cree children and young adults in northwestern Quebec.
Medicare program; recognition of NAIC model standards for regulation of Medicare supplemental insurance--HCFA. Notice.
In Fed Regist, 1999
It also recognizes that the Model Regulation adopted by the National Association of Insurance Commissioners (NAIC) on April 29, 1998, as corrected and clarified by HCFA, is considered to be the applicable NAIC Model Regulation for purposes of section 1882 of the Social Security Act.
State insurance regulation of provider-sponsored organizations.
Kelly, Jacksonville, United States. In Healthc Financ Manage, 1997
The National Association of Insurance Commissioners (NAIC) has recommended that direct-contracting PSOs be subjected to the same requirements as HMOs, including minimum cash reserves.
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