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Polymorphisms in type II SH2 domain-containing inositol 5-phosphatase (INPPL1, SHIP2) are associated with physiological abnormalities of the metabolic syndrome.
Kaisaki PJ, Delépine M, Woon PY, Sebag-Montefiore L, Wilder SP, Menzel S, Vionnet N, Marion E, Riveline JP, Charpentier G, Schurmans S, Levy JC, Lathrop M, Farrall M, Gauguier D. Kaisaki PJ, et al. Among authors: lathrop m. Diabetes. 2004 Jul;53(7):1900-4. doi: 10.2337/diabetes.53.7.1900. Diabetes. 2004. PMID: 15220217
Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat.
Brown JH, Bihoreau MT, Hoffmann S, Kränzlin B, Tychinskaya I, Obermüller N, Podlich D, Boehn SN, Kaisaki PJ, Megel N, Danoy P, Copley RR, Broxholme J, Witzgall R, Lathrop M, Gretz N, Gauguier D. Brown JH, et al. Among authors: lathrop m. J Am Soc Nephrol. 2005 Dec;16(12):3517-26. doi: 10.1681/ASN.2005060601. Epub 2005 Oct 5. J Am Soc Nephrol. 2005. PMID: 16207829
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
Van Maldergem L, Magré J, Khallouf TE, Gedde-Dahl T Jr, Delépine M, Trygstad O, Seemanova E, Stephenson T, Albott CS, Bonnici F, Panz VR, Medina JL, Bogalho P, Huet F, Savasta S, Verloes A, Robert JJ, Loret H, De Kerdanet M, Tubiana-Rufi N, Mégarbané A, Maassen J, Polak M, Lacombe D, Kahn CR, Silveira EL, D'Abronzo FH, Grigorescu F, Lathrop M, Capeau J, O'Rahilly S. Van Maldergem L, et al. Among authors: lathrop m. J Med Genet. 2002 Oct;39(10):722-33. doi: 10.1136/jmg.39.10.722. J Med Genet. 2002. PMID: 12362029 Free PMC article.
668 results