364 related articles for article (PubMed ID: 20839288)
1. 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; 2011 Mar; 26(3):666-72. PubMed ID: 20839288
[TBL] [Abstract][Full Text] [Related]
2. 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; 2013 Jan; 22(1):1-17. PubMed ID: 22949511
[TBL] [Abstract][Full Text] [Related]
3. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
Christiansen HE; Schwarze U; Pyott SM; AlSwaid A; Al Balwi M; Alrasheed S; Pepin MG; Weis MA; Eyre DR; Byers PH
Am J Hum Genet; 2010 Mar; 86(3):389-98. PubMed ID: 20188343
[TBL] [Abstract][Full Text] [Related]
4. 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; 2013 Sep; 34(9):1279-88. PubMed ID: 23712425
[TBL] [Abstract][Full Text] [Related]
5. Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
Pyott SM; Schwarze U; Christiansen HE; Pepin MG; Leistritz DF; Dineen R; Harris C; Burton BK; Angle B; Kim K; Sussman MD; Weis M; Eyre DR; Russell DW; McCarthy KJ; Steiner RD; Byers PH
Hum Mol Genet; 2011 Apr; 20(8):1595-609. PubMed ID: 21282188
[TBL] [Abstract][Full Text] [Related]
6. The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.
Zhang ZL; Zhang H; Ke YH; Yue H; Xiao WJ; Yu JB; Gu JM; Hu WW; Wang C; He JW; Fu WZ
J Bone Miner Metab; 2012 Jan; 30(1):69-77. PubMed ID: 21667357
[TBL] [Abstract][Full Text] [Related]
7. 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; 2011 Jun; 155A(6):1448-52. PubMed ID: 21567934
[TBL] [Abstract][Full Text] [Related]
8. A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient.
Setijowati ED; van Dijk FS; Cobben JM; van Rijn RR; Sistermans EA; Faradz SM; Kawiyana S; Pals G
Eur J Med Genet; 2012 Jan; 55(1):17-21. PubMed ID: 22085994
[TBL] [Abstract][Full Text] [Related]
9. Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
Barnes AM; Cabral WA; Weis M; Makareeva E; Mertz EL; Leikin S; Eyre D; Trujillo C; Marini JC
Hum Mutat; 2012 Nov; 33(11):1589-98. PubMed ID: 22718341
[TBL] [Abstract][Full Text] [Related]
10. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
Marini JC; Cabral WA; Barnes AM
Cell Tissue Res; 2010 Jan; 339(1):59-70. PubMed ID: 19862557
[TBL] [Abstract][Full Text] [Related]
11. Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.
Mumm S; Gottesman GS; Wenkert D; Campeau PM; Nenninger A; Huskey M; Bijanki VN; Veis DJ; Barnes AM; Marini JC; Stolina M; Zhang F; McAlister WH; Whyte MP
Bone; 2020 Jan; 130():115047. PubMed ID: 31472299
[TBL] [Abstract][Full Text] [Related]
12. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
Alanay Y; Avaygan H; Camacho N; Utine GE; Boduroglu K; Aktas D; Alikasifoglu M; Tuncbilek E; Orhan D; Bakar FT; Zabel B; Superti-Furga A; Bruckner-Tuderman L; Curry CJ; Pyott S; Byers PH; Eyre DR; Baldridge D; Lee B; Merrill AE; Davis EC; Cohn DH; Akarsu N; Krakow D
Am J Hum Genet; 2010 Apr; 86(4):551-9. PubMed ID: 20362275
[TBL] [Abstract][Full Text] [Related]
13. 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
BMC Med Genet; 2016 May; 17(1):38. PubMed ID: 27146342
[TBL] [Abstract][Full Text] [Related]
14. Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.
Steinlein OK; Aichinger E; Trucks H; Sander T
BMC Med Genet; 2011 Nov; 12():152. PubMed ID: 22107750
[TBL] [Abstract][Full Text] [Related]
15. PPIB mutations cause severe osteogenesis imperfecta.
van Dijk FS; Nesbitt IM; Zwikstra EH; Nikkels PG; Piersma SR; Fratantoni SA; Jimenez CR; Huizer M; Morsman AC; Cobben JM; van Roij MH; Elting MW; Verbeke JI; Wijnaendts LC; Shaw NJ; Högler W; McKeown C; Sistermans EA; Dalton A; Meijers-Heijboer H; Pals G
Am J Hum Genet; 2009 Oct; 85(4):521-7. PubMed ID: 19781681
[TBL] [Abstract][Full Text] [Related]
16. 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; Bonafé L
Am J Med Genet A; 2004 Dec; 131(2):115-20. PubMed ID: 15523624
[TBL] [Abstract][Full Text] [Related]
17. Novel Mutations in PLOD2 Cause Rare Bruck Syndrome.
Lv F; Xu X; Song Y; Li L; Asan ; Wang J; Yang H; Wang O; Jiang Y; Xia W; Xing X; Li M
Calcif Tissue Int; 2018 Mar; 102(3):296-309. PubMed ID: 29177700
[TBL] [Abstract][Full Text] [Related]
18. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.
Puig-Hervás MT; Temtamy S; Aglan M; Valencia M; Martínez-Glez V; Ballesta-Martínez MJ; López-González V; Ashour AM; Amr K; Pulido V; Guillén-Navarro E; Lapunzina P; Caparrós-Martín JA; Ruiz-Perez VL
Hum Mutat; 2012 Oct; 33(10):1444-9. PubMed ID: 22689593
[TBL] [Abstract][Full Text] [Related]
19. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Baldridge D; Schwarze U; Morello R; Lennington J; Bertin TK; Pace JM; Pepin MG; Weis M; Eyre DR; Walsh J; Lambert D; Green A; Robinson H; Michelson M; Houge G; Lindman C; Martin J; Ward J; Lemyre E; Mitchell JJ; Krakow D; Rimoin DL; Cohn DH; Byers PH; Lee B
Hum Mutat; 2008 Dec; 29(12):1435-42. PubMed ID: 18566967
[TBL] [Abstract][Full Text] [Related]
20. Bone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfecta.
Eyre DR; Weis MA
Calcif Tissue Int; 2013 Oct; 93(4):338-47. PubMed ID: 23508630
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
