AHI1

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Abelson helper integration site 1
Identifiers
Symbols AHI1 ; ORF1; AHI-1; DKFZp686J1653; FLJ14023; FLJ20069; JBTS3; dJ71N10.1
External IDs Template:OMIM5 Template:MGI HomoloGene9762
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Abelson helper integration site 1, also known as AHI1, is a human gene.[1]


References

  1. "Entrez Gene: AHI1 Abelson helper integration site 1".

Further reading

  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.
  • Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. PMID 11076863.
  • Wiemann S, Weil B, Wellenreuther R; et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.154701. PMID 11230166.
  • Jiang X, Hanna Z, Kaouass M; et al. (2002). "Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations". J. Virol. 76 (18): 9046–59. PMID 12186888.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.
  • Mungall AJ, Palmer SA, Sims SK; et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.
  • Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Jiang X, Zhao Y, Chan WY; et al. (2004). "Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia". Blood. 103 (10): 3897–904. doi:10.1182/blood-2003-11-4026. PMID 14751929.
  • Lagier-Tourenne C, Boltshauser E, Breivik N; et al. (2004). "Homozygosity mapping of a third Joubert syndrome locus to 6q23". J. Med. Genet. 41 (4): 273–7. PMID 15060101.
  • Close J, Game L, Clark B; et al. (2004). "Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults". BMC Genomics. 5 (1): 33. doi:10.1186/1471-2164-5-33. PMID 15169551.
  • Ferland RJ, Eyaid W, Collura RV; et al. (2004). "Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome". Nat. Genet. 36 (9): 1008–13. doi:10.1038/ng1419. PMID 15322546.
  • Dixon-Salazar T, Silhavy JL, Marsh SE; et al. (2005). "Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria". Am. J. Hum. Genet. 75 (6): 979–87. doi:10.1086/425985. PMID 15467982.
  • Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
  • Wiemann S, Arlt D, Huber W; et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMID 15489336.
  • Parisi MA, Doherty D, Eckert ML; et al. (2006). "AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome". J. Med. Genet. 43 (4): 334–9. doi:10.1136/jmg.2005.036608. PMID 16155189.
  • Utsch B, Sayer JA, Attanasio M; et al. (2006). "Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome". Pediatr. Nephrol. 21 (1): 32–5. doi:10.1007/s00467-005-2054-y. PMID 16240161.
  • Mehrle A, Rosenfelder H, Schupp I; et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMID 16381901.
  • Valente EM, Brancati F, Silhavy JL; et al. (2006). "AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders". Ann. Neurol. 59 (3): 527–34. doi:10.1002/ana.20749. PMID 16453322.
  • Amann-Zalcenstein D, Avidan N, Kanyas K; et al. (2006). "AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia". Eur. J. Hum. Genet. 14 (10): 1111–9. doi:10.1038/sj.ejhg.5201675. PMID 16773125.

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