1 | BRKS1, FKBP10, OIDP
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| Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome.
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| 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.
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| BMC Med Genet 17(1):38. doi: 10.1186/s12881-016-0301-7.
2016
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2 | BRKS1, FKBP10
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| Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation.
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| Moravej H, Karamifar H, Karamizadeh Z, Amirhakimi G, Atashi S, Nasirabadi S.
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| Endokrynol Pol 66(2):170-4. doi: 10.5603/EP.2015.0024. Review.
2015
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3 | BRKS1, FKBP10
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| Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations.
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| 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.
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| Hum Mutat 34(9):1279-88. doi: 10.1002/humu.22362.
2013
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4 | BRKS1, FKBP10, PLOD2, SERPINH1
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| Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
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| 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.
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| Hum Mol Genet 22(1):1-17. doi: 10.1093/hmg/dds371. Epub 2012 Sep 4. 2013
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5 | BRKS1, FKBP10
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| Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.
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| Shaheen R, Al-Owain M, Faqeih E, Al-Hashmi N, Awaji A, Al-Zayed Z, Alkuraya FS.
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| Am J Med Genet A 155A(6):1448-52. doi: 10.1002/ajmg.a.34025. Epub 2011 May 12. 2011
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6 | BRKS1, FKBP10
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| Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
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| 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.
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| J Bone Miner Res 26(3):666-72. doi: 10.1002/jbmr.250. 2011
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7 | PLOD2, BRKS2, BRKS1
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| Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.
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| Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, Bonafe L.
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| Am J Med Genet A 131A(2):115-20. 2004
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8 | BRKS1
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| Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome).
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| Viljoen D, Versfeld G, Beighton P.
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| Clin Genet 36(2):122-6. 1989
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