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The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations.
Ozawa A, Agarwal SK, Mateo CM, Burns AL, Rice TS, Kennedy PA, Quigley CM, Simonds WF, Weinstein LS, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ. Ozawa A, et al. Among authors: chandrasekharappa sc. J Clin Endocrinol Metab. 2007 May;92(5):1948-51. doi: 10.1210/jc.2006-2563. Epub 2007 Feb 13. J Clin Endocrinol Metab. 2007. PMID: 17299066
Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.
Webster ALH, Sanders MA, Patel K, Dietrich R, Noonan RJ, Lach FP, White RR, Goldfarb A, Hadi K, Edwards MM, Donovan FX, Hoogenboezem RM, Jung M, Sridhar S, Wiley TF, Fedrigo O, Tian H, Rosiene J, Heineman T, Kennedy JA, Bean L, Rosti RO, Tryon R, Gonzalez AM, Rosenberg A, Luo JD, Carroll TS, Shroff S, Beaumont M, Velleuer E, Rastatter JC, Wells SI, Surrallés J, Bagby G, MacMillan ML, Wagner JE, Cancio M, Boulad F, Scognamiglio T, Vaughan R, Beaumont KG, Koren A, Imielinski M, Chandrasekharappa SC, Auerbach AD, Singh B, Kutler DI, Campbell PJ, Smogorzewska A. Webster ALH, et al. Among authors: chandrasekharappa sc. Nature. 2022 Dec;612(7940):495-502. doi: 10.1038/s41586-022-05253-4. Epub 2022 Nov 30. Nature. 2022. PMID: 36450981 Free PMC article.
Positional cloning of the gene for multiple endocrine neoplasia-type 1.
Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ. Chandrasekharappa SC, et al. Science. 1997 Apr 18;276(5311):404-7. doi: 10.1126/science.276.5311.404. Science. 1997. PMID: 9103196
Loss of heterozygosity at 11q13: analysis of pituitary tumors, lung carcinoids, lipomas, and other uncommon tumors in subjects with familial multiple endocrine neoplasia type 1.
Dong Q, Debelenko LV, Chandrasekharappa SC, Emmert-Buck MR, Zhuang Z, Guru SC, Manickam P, Skarulis M, Lubensky IA, Liotta LA, Collins FS, Marx SJ, Spiegel AM. Dong Q, et al. Among authors: chandrasekharappa sc. J Clin Endocrinol Metab. 1997 May;82(5):1416-20. doi: 10.1210/jcem.82.5.3944. J Clin Endocrinol Metab. 1997. PMID: 9141526
A 2.8-Mb clone contig of the multiple endocrine neoplasia type 1 (MEN1) region at 11q13.
Guru SC, Olufemi SE, Manickam P, Cummings C, Gieser LM, Pike BL, Bittner ML, Jiang Y, Chinault AC, Nowak NJ, Brzozowska A, Crabtree JS, Wang Y, Roe BA, Weisemann JM, Boguski MS, Agarwal SK, Burns AL, Spiegel AM, Marx SJ, Flejter WL, de Jong PJ, Collins FS, Chandrasekharappa SC. Guru SC, et al. Among authors: chandrasekharappa sc. Genomics. 1997 Jun 15;42(3):436-45. doi: 10.1006/geno.1997.4783. Genomics. 1997. PMID: 9205115
Mutations in the human Jagged1 gene are responsible for Alagille syndrome.
Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC. Oda T, et al. Among authors: chandrasekharappa sc. Nat Genet. 1997 Jul;16(3):235-42. doi: 10.1038/ng0797-235. Nat Genet. 1997. PMID: 9207787
164 results