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HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
Carpten JD, Robbins CM, Villablanca A, Forsberg L, Presciuttini S, Bailey-Wilson J, Simonds WF, Gillanders EM, Kennedy AM, Chen JD, Agarwal SK, Sood R, Jones MP, Moses TY, Haven C, Petillo D, Leotlela PD, Harding B, Cameron D, Pannett AA, Höög A, Heath H 3rd, James-Newton LA, Robinson B, Zarbo RJ, Cavaco BM, Wassif W, Perrier ND, Rosen IB, Kristoffersson U, Turnpenny PD, Farnebo LO, Besser GM, Jackson CE, Morreau H, Trent JM, Thakker RV, Marx SJ, Teh BT, Larsson C, Hobbs MR. Carpten JD, et al. Among authors: forsberg l. Nat Genet. 2002 Dec;32(4):676-80. doi: 10.1038/ng1048. Epub 2002 Nov 18. Nat Genet. 2002. PMID: 12434154
Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP).
Villablanca A, Calender A, Forsberg L, Höög A, Cheng JD, Petillo D, Bauters C, Kahnoski K, Ebeling T, Salmela P, Richardson AL, Delbridge L, Meyrier A, Proye C, Carpten JD, Teh BT, Robinson BG, Larsson C. Villablanca A, et al. Among authors: forsberg l. J Med Genet. 2004 Mar;41(3):e32. doi: 10.1136/jmg.2003.012369. J Med Genet. 2004. PMID: 14985403 Free PMC article. No abstract available.
Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism.
Villablanca A, Wassif WS, Smith T, Höög A, Vierimaa O, Kassem M, Dwight T, Forsberg L, Du Q, Learoyd D, Jones K, Stranks S, Juhlin C, Teh BT, Carling T, Robinson B, Larsson C. Villablanca A, et al. Among authors: forsberg l. Eur J Endocrinol. 2002 Sep;147(3):313-22. doi: 10.1530/eje.0.1470313. Eur J Endocrinol. 2002. PMID: 12213668
Menin interacts directly with the homeobox-containing protein Pem.
Lemmens IH, Forsberg L, Pannett AA, Meyen E, Piehl F, Turner JJ, Van de Ven WJ, Thakker RV, Larsson C, Kas K. Lemmens IH, et al. Among authors: forsberg l. Biochem Biophys Res Commun. 2001 Aug 17;286(2):426-31. doi: 10.1006/bbrc.2001.5405. Biochem Biophys Res Commun. 2001. PMID: 11500056
396 results