Biology:CIRH1A
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Cirhin is a protein that in humans is encoded by the CIRH1A gene.[1][2][3] It has been associated with North American Indian childhood cirrhosis (not to be confused with Indian Childhood Cirrhosis which has greatly decreased over the past 100 years and was thought to be secondary to the use of various herbal remedies), a form of cirrhosis of the liver occurring in American Indian children from the Abitibi region of northern Quebec.[4]
References
- ↑ "Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype". Am J Hum Genet 67 (1): 222–8. Aug 2000. doi:10.1086/302993. PMID 10820129.
- ↑ "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis". Am J Hum Genet 71 (6): 1443–9. Nov 2002. doi:10.1086/344580. PMID 12417987.
- ↑ "Entrez Gene: CIRH1A cirrhosis, autosomal recessive 1A (cirhin)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84916.
- ↑ "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis". Am. J. Hum. Genet. 71 (6): 1443–9. 2002. doi:10.1086/344580. PMID 12417987. PMC 378590. http://www.ajhg.org/AJHG/fulltext/S0002-9297(07)60865-9.
External links
- Human CIRH1A genome location and CIRH1A gene details page in the UCSC Genome Browser.
Further reading
- "Characterization of genes expressed early in mouse spermatogenesis, isolated from a subtractive cDNA library.". Mamm. Genome 7 (9): 698–700. 1996. doi:10.1007/s003359900210. PMID 8703127.
- "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins.". DNA Res. 8 (6): 319–27. 2002. doi:10.1093/dnares/8.6.319. PMID 11853319.
- "Functional proteomic analysis of human nucleolus.". Mol. Biol. Cell 13 (11): 4100–9. 2003. doi:10.1091/mbc.E02-05-0271. PMID 12429849.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Nucleolar proteome dynamics.". Nature 433 (7021): 77–83. 2005. doi:10.1038/nature03207. PMID 15635413.
- "Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis.". Exp. Cell Res. 311 (2): 218–28. 2006. doi:10.1016/j.yexcr.2005.08.012. PMID 16225863.
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