AHI1

An Error has occured retrieving Wikidata item for infobox AHI1‏ (Abelson helper integration site 1) هوَ بروتين يُشَفر بواسطة جين AHI1 في الإنسان.^[1]^[1]^[2]^[3]^[3]^[4]^[5]^[6]

الوظيفة

الأهمية السريرية

المراجع

^ ^أ ^ب Lotan، A؛ Lifschytz، T؛ Slonimsky، A؛ Broner، E C؛ Greenbaum، L؛ Abedat، S؛ Fellig، Y؛ Cohen، H؛ Lory، O. "Neural mechanisms underlying stress resilience in Ahi1 knockout mice: relevance to neuropsychiatric disorders". Molecular Psychiatry. ج. 19 ع. 2: 243–252. DOI:10.1038/mp.2013.123. PMID:24042478. مؤرشف من الأصل في 2019-12-07.
^ "Entrez Gene: AHI1 Abelson helper integration site 1". مؤرشف من الأصل في 2010-03-07.
^ ^أ ^ب Dixon-Salazar، Tracy؛ Silhavy، Jennifer L.؛ Marsh، Sarah E.؛ Louie، Carrie M.؛ Scott، Lesley C.؛ Gururaj، Aithala؛ Al-Gazali، Lihadh؛ Al-Tawari، Asma A.؛ Kayserili، Hulya (1 ديسمبر 2004). "Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria". American Journal of Human Genetics. ج. 75 ع. 6: 979–987. DOI:10.1086/425985. ISSN:0002-9297. PMC:1182159. PMID:15467982.
^ Utsch B، Sayer JA، Attanasio M، Pereira RR، Eccles M، Hennies HC، Otto EA، Hildebrandt F (مارس 2006). "Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome". Pediatr Nephrol. ج. 21 ع. 1: 32–5. DOI:10.1007/s00467-005-2054-y. PMID:16240161.
^ Amann-Zalcenstein, Daniela; Avidan, Nili; Kanyas, Kyra; Ebstein, Richard P.; Kohn, Yoav; Hamdan, Adnan; Ben-Asher, Edna; Karni, Osnat; Mujaheed, Muhammed (14 Jun 2006). "AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia". European Journal of Human Genetics (بEnglish). 14 (10): 1111–1119. DOI:10.1038/sj.ejhg.5201675. ISSN:1018-4813. PMID:16773125. Archived from the original on 2016-09-25.
^ Lagier-Tourenne C، Boltshauser E، Breivik N، Gribaa M، Betard C، Barbot C، Koenig M (أبريل 2004). "Homozygosity mapping of a third Joubert syndrome locus to 6q23". J Med Genet. ج. 41 ع. 4: 273–7. DOI:10.1136/jmg.2003.014787. PMC:1735723. PMID:15060101.

قراءة متعمقة

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Jiang X، Hanna Z، Kaouass M، وآخرون (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. ج. 76 ع. 18: 9046–59. DOI:10.1128/JVI.76.18.9046-9059.2002. PMC:136442. PMID:12186888.
Strausberg RL، Feingold EA، Grouse LH، وآخرون (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. ج. 99 ع. 26: 16899–903. DOI:10.1073/pnas.242603899. PMC:139241. PMID:12477932.
Mungall AJ، Palmer SA، Sims SK، وآخرون (2003). "The DNA sequence and analysis of human chromosome 6". Nature. ج. 425 ع. 6960: 805–11. DOI:10.1038/nature02055. PMID:14574404.
Ota T، Suzuki Y، Nishikawa T، وآخرون (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. ج. 36 ع. 1: 40–5. DOI:10.1038/ng1285. PMID:14702039.
Jiang X، Zhao Y، Chan WY، وآخرون (2004). "Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia". Blood. ج. 103 ع. 10: 3897–904. DOI:10.1182/blood-2003-11-4026. PMID:14751929.
Close J، Game L، Clark B، وآخرون (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. ج. 5: 33. DOI:10.1186/1471-2164-5-33. PMC:441375. PMID:15169551.
Ferland RJ، Eyaid W، Collura RV، وآخرون (2004). "Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome". Nat. Genet. ج. 36 ع. 9: 1008–13. DOI:10.1038/ng1419. PMID:15322546.
Dixon-Salazar T، Silhavy JL، Marsh SE، وآخرون (2005). "Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria". Am. J. Hum. Genet. ج. 75 ع. 6: 979–87. DOI:10.1086/425985. PMC:1182159. PMID:15467982.
Gerhard DS، Wagner L، Feingold EA، وآخرون (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. ج. 14 ع. 10B: 2121–7. DOI:10.1101/gr.2596504. PMC:528928. PMID:15489334.
Wiemann S، Arlt D، Huber W، وآخرون (2004). "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. ج. 14 ع. 10B: 2136–44. DOI:10.1101/gr.2576704. PMC:528930. PMID:15489336.
Parisi MA، Doherty D، Eckert ML، وآخرون (2006). "AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome". J. Med. Genet. ج. 43 ع. 4: 334–9. DOI:10.1136/jmg.2005.036608. PMC:2563230. PMID:16155189.
Mehrle A، Rosenfelder H، Schupp I، وآخرون (2006). "The LIFEdb database in 2006". Nucleic Acids Res. ج. 34 ع. Database issue: D415–8. DOI:10.1093/nar/gkj139. PMC:1347501. PMID:16381901.
Valente EM، Brancati F، Silhavy JL، وآخرون (2006). "AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders". Ann. Neurol. ج. 59 ع. 3: 527–34. DOI:10.1002/ana.20749. PMID:16453322.
Amann-Zalcenstein D، Avidan N، Kanyas K، وآخرون (2006). "AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia". Eur. J. Hum. Genet. ج. 14 ع. 10: 1111–9. DOI:10.1038/sj.ejhg.5201675. PMID:16773125.

هذه بذرة مقالة عن جين على كروموسوم 6 بحاجة للتوسيع. فضلًا شارك في تحريرها.

[:1-1] أ ^ب Lotan، A؛ Lifschytz، T؛ Slonimsky، A؛ Broner، E C؛ Greenbaum، L؛ Abedat، S؛ Fellig، Y؛ Cohen، H؛ Lory، O. "Neural mechanisms underlying stress resilience in Ahi1 knockout mice: relevance to neuropsychiatric disorders". Molecular Psychiatry. ج. 19 ع. 2: 243–252. DOI:10.1038/mp.2013.123. PMID:24042478. مؤرشف من الأصل في 2019-12-07.

[entrez-2] "Entrez Gene: AHI1 Abelson helper integration site 1". مؤرشف من الأصل في 2010-03-07.

[:0-3] أ ^ب Dixon-Salazar، Tracy؛ Silhavy، Jennifer L.؛ Marsh، Sarah E.؛ Louie، Carrie M.؛ Scott، Lesley C.؛ Gururaj، Aithala؛ Al-Gazali، Lihadh؛ Al-Tawari، Asma A.؛ Kayserili، Hulya (1 ديسمبر 2004). "Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria". American Journal of Human Genetics. ج. 75 ع. 6: 979–987. DOI:10.1086/425985. ISSN:0002-9297. PMC:1182159. PMID:15467982.

[pmid16240161-4] Utsch B، Sayer JA، Attanasio M، Pereira RR، Eccles M، Hennies HC، Otto EA، Hildebrandt F (مارس 2006). "Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome". Pediatr Nephrol. ج. 21 ع. 1: 32–5. DOI:10.1007/s00467-005-2054-y. PMID:16240161.

[5] Amann-Zalcenstein, Daniela; Avidan, Nili; Kanyas, Kyra; Ebstein, Richard P.; Kohn, Yoav; Hamdan, Adnan; Ben-Asher, Edna; Karni, Osnat; Mujaheed, Muhammed (14 Jun 2006). "AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia". European Journal of Human Genetics (بEnglish). 14 (10): 1111–1119. DOI:10.1038/sj.ejhg.5201675. ISSN:1018-4813. PMID:16773125. Archived from the original on 2016-09-25.

[pmid15060101-6] Lagier-Tourenne C، Boltshauser E، Breivik N، Gribaa M، Betard C، Barbot C، Koenig M (أبريل 2004). "Homozygosity mapping of a third Joubert syndrome locus to 6q23". J Med Genet. ج. 41 ع. 4: 273–7. DOI:10.1136/jmg.2003.014787. PMC:1735723. PMID:15060101.

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