Citations for
1BRKS1, FKBP10, OIDP
Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome.
Kaneto CM, Lima PS, Zanette DL, Oliveira TY, de Assis Pereira F, Lorenzi JC, Dos Santos JL, Prata KL, Neto JM, de Paula FJ, Silva WA Jr.
BMC Med Genet 17(1):38. doi: 10.1186/s12881-016-0301-7. 2016
2BRKS1, FKBP10
Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation.
Moravej H, Karamifar H, Karamizadeh Z, Amirhakimi G, Atashi S, Nasirabadi S.
Endokrynol Pol 66(2):170-4. doi: 10.5603/EP.2015.0024. Review. 2015
3BRKS1, FKBP10
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations.
Barnes AM, Duncan G, Weis M, Paton W, Cabral WA, Mertz EL, Makareeva E, Gambello MJ, Lacbawan FL, Leikin S, Fertala A, Eyre DR, Bale SJ, Marini JC.
Hum Mutat 34(9):1279-88. doi: 10.1002/humu.22362. 2013
4BRKS1, FKBP10, PLOD2, SERPINH1
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Schwarze U, Cundy T, Pyott SM, Christiansen HE, Hegde MR, Bank RA, Pals G, Ankala A, Conneely K, Seaver L, Yandow SM, Raney E, Babovic-Vuksanovic D, Stoler J, Ben-Neriah Z, Segel R, Lieberman S, Siderius L, Al-Aqeel A, Hannibal M, Hudgins L, McPherson E, Clemens M, Sussman MD, Steiner RD, Mahan J, Smith R, Anyane-Yeboa K, Wynn J, Chong K, Uster T, Aftimos S, Sutton VR, Davis EC, Kim LS, Weis MA, Eyre D, Byers PH.
Hum Mol Genet 22(1):1-17. doi: 10.1093/hmg/dds371. Epub 2012 Sep 4. 2013
5BRKS1, FKBP10
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.
Shaheen R, Al-Owain M, Faqeih E, Al-Hashmi N, Awaji A, Al-Zayed Z, Alkuraya FS.
Am J Med Genet A 155A(6):1448-52. doi: 10.1002/ajmg.a.34025. Epub 2011 May 12. 2011
6BRKS1, FKBP10
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, Willaert A, Elcioglu N, Van Maldergem L, Verellen-Dumoulin C, Gillerot Y, Napierala D, Krakow D, Beighton P, Superti-Furga A, De Paepe A, Lee B.
J Bone Miner Res 26(3):666-72. doi: 10.1002/jbmr.250. 2011
7PLOD2, BRKS2, BRKS1
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.
Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, Bonafe L.
Am J Med Genet A 131A(2):115-20. 2004
8BRKS1
Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome).
Viljoen D, Versfeld G, Beighton P.
Clin Genet 36(2):122-6. 1989