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Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD. Gomez-Ospina N, et al. Among authors: kambham n. Nat Commun. 2016 Feb 18;7:10713. doi: 10.1038/ncomms10713. Nat Commun. 2016. PMID: 26888176 Free PMC article.
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).
Sanyal M, Morimoto M, Baradaran-Heravi A, Choi K, Kambham N, Jensen K, Dutt S, Dionis-Petersen KY, Liu LX, Felix K, Mayfield C, Dekel B, Bokenkamp A, Fryssira H, Guillen-Navarro E, Lama G, Brugnara M, Lücke T, Olney AH, Hunley TE, Polat AI, Yis U, Bogdanovic R, Mitrovic K, Berry S, Najera L, Najafian B, Gentile M, Nur Semerci C, Tsimaratos M, Lewis DB, Boerkoel CF. Sanyal M, et al. Among authors: kambham n. Clin Immunol. 2015 Dec;161(2):355-65. doi: 10.1016/j.clim.2015.10.005. Epub 2015 Oct 21. Clin Immunol. 2015. PMID: 26499378
IgA-dominant glomerulonephritis with a membranoproliferative pattern of injury.
Andeen NK, Jefferson JA, Akilesh S, Alpers CE, Bissonnette ML, Finn LS, Higgins J, Houghton DC, Kambham N, Magil A, Najafian B, Nicosia RF, Troxell ML, Smith KD. Andeen NK, et al. Among authors: kambham n. Hum Pathol. 2018 Nov;81:272-280. doi: 10.1016/j.humpath.2018.06.031. Epub 2018 Jul 3. Hum Pathol. 2018. PMID: 30420049
131 results