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Page 1
Connective tissue alterations in Fkbp10-/- mice.
Lietman CD, Rajagopal A, Homan EP, Munivez E, Jiang MM, Bertin TK, Chen Y, Hicks J, Weis M, Eyre D, Lee B, Krakow D. Lietman CD, et al. Among authors: hicks j. Hum Mol Genet. 2014 Sep 15;23(18):4822-31. doi: 10.1093/hmg/ddu197. Epub 2014 Apr 28. Hum Mol Genet. 2014. PMID: 24777781 Free PMC article.
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.
Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bächinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B. Morello R, et al. Among authors: hicks j. Cell. 2006 Oct 20;127(2):291-304. doi: 10.1016/j.cell.2006.08.039. Cell. 2006. PMID: 17055431 Free article.
Generalized metabolic bone disease in Neurofibromatosis type I.
Brunetti-Pierri N, Doty SB, Hicks J, Phan K, Mendoza-Londono R, Blazo M, Tran A, Carter S, Lewis RA, Plon SE, Phillips WA, O'Brian Smith E, Ellis KJ, Lee B. Brunetti-Pierri N, et al. Among authors: hicks j. Mol Genet Metab. 2008 May;94(1):105-11. doi: 10.1016/j.ymgme.2007.12.004. Epub 2008 Mar 4. Mol Genet Metab. 2008. PMID: 18289904 Free PMC article.
E-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-beta.
Yang T, Mendoza-Londono R, Lu H, Tao J, Li K, Keller B, Jiang MM, Shah R, Chen Y, Bertin TK, Engin F, Dabovic B, Rifkin DB, Hicks J, Jamrich M, Beaudet AL, Lee B. Yang T, et al. Among authors: hicks j. J Clin Invest. 2010 Jul;120(7):2474-85. doi: 10.1172/JCI42150. Epub 2010 Jun 7. J Clin Invest. 2010. PMID: 20530870 Free PMC article.
Differential effects of collagen prolyl 3-hydroxylation on skeletal tissues.
Homan EP, Lietman C, Grafe I, Lennington J, Morello R, Napierala D, Jiang MM, Munivez EM, Dawson B, Bertin TK, Chen Y, Lua R, Lichtarge O, Hicks J, Weis MA, Eyre D, Lee BH. Homan EP, et al. Among authors: hicks j. PLoS Genet. 2014 Jan;10(1):e1004121. doi: 10.1371/journal.pgen.1004121. Epub 2014 Jan 23. PLoS Genet. 2014. PMID: 24465224 Free PMC article.
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR; Undiagnosed Diseases Network; Westerfield M, De Matteis MA, Lee B. Marom R, et al. Among authors: hicks j. Am J Hum Genet. 2021 Sep 2;108(9):1710-1724. doi: 10.1016/j.ajhg.2021.08.002. Epub 2021 Aug 26. Am J Hum Genet. 2021. PMID: 34450031 Free PMC article.
Autosomal dominant transmission of familial laterality defects.
Casey B, Cuneo BF, Vitali C, van Hecke H, Barrish J, Hicks J, Ballabio A, Hoo JJ. Casey B, et al. Among authors: hicks j. Am J Med Genet. 1996 Feb 2;61(4):325-8. doi: 10.1002/(SICI)1096-8628(19960202)61:4<325::AID-AJMG5>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8834043
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C; Baylor-Hopkins Center for Mendelian Genomics; Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Shum AK. Watkin LB, et al. Among authors: hicks j. Nat Genet. 2015 Jun;47(6):654-60. doi: 10.1038/ng.3279. Epub 2015 Apr 20. Nat Genet. 2015. PMID: 25894502 Free PMC article.
2,077 results