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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: sood r. Nat Genet. 2002 Dec;32(4):676-80. doi: 10.1038/ng1048. Epub 2002 Nov 18. Nat Genet. 2002. PMID: 12434154
Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects.
Veleri S, Bishop K, Dalle Nogare DE, English MA, Foskett TJ, Chitnis A, Sood R, Liu P, Swaroop A. Veleri S, et al. Among authors: sood r. PLoS One. 2012;7(3):e34389. doi: 10.1371/journal.pone.0034389. Epub 2012 Mar 29. PLoS One. 2012. PMID: 22479622 Free PMC article.
Variation of BMP3 contributes to dog breed skull diversity.
Schoenebeck JJ, Hutchinson SA, Byers A, Beale HC, Carrington B, Faden DL, Rimbault M, Decker B, Kidd JM, Sood R, Boyko AR, Fondon JW 3rd, Wayne RK, Bustamante CD, Ciruna B, Ostrander EA. Schoenebeck JJ, et al. Among authors: sood r. PLoS Genet. 2012;8(8):e1002849. doi: 10.1371/journal.pgen.1002849. Epub 2012 Aug 2. PLoS Genet. 2012. PMID: 22876193 Free PMC article.
865 results