Citations for
1FKBP10
Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone.
Lietman CD, Lim J, Grafe I, Chen Y, Ding H, Bi X, Ambrose CG, Fratzl-Zelman N, Roschger P, Klaushofer K, Wagermaier W, Schmidt I, Fratzl P, Rai J, Weis M, Eyre D, Keene DR, Krakow D, Lee BH.
J Bone Miner Res Bone Miner Res. 2017 Feb 16. doi: 10.1002/jbmr.3108. [Epub ahead of print] 2017
2FKBP10, OIDP
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
Caparros-Martin JA, Aglan MS, Temtamy S, Otaify GA, Valencia M, Nevado J, Vallespin E, Del Pozo A, Prior de Castro C, Calatrava-Ferreras L, Gutierrez P, Bueno AM, Sagastizabal B, Guillen-Navarro E, Ballesta-Martinez M, Gonzalez V, Basaran SY, Buyukoglan R, Sarikepe B, Espinoza-Valdez C, Cammarata-Scalisi F, Martinez-Glez V, Heath KE, Lapunzina P, Ruiz-Perez VL.
Mol Genet Genomic Med 5(1):28-39. doi: 10.1002/mgg3.257. 2016
3BRKS1, 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
4FKBP10, PLOD1, PLOD2, PLOD3
Disentangling mechanisms involved in collagen pyridinoline cross-linking: The immunophilin FKBP65 is critical for dimerization of lysyl hydroxylase 2.
Gjaltema RA, van der Stoel MM, Boersema M, Bank RA.
Proc Natl Acad Sci U S A 113(26):7142-7. doi: 10.1073/pnas.1600074113. Epub 2016 Jun 13. 2016
5FKBP10, OIDP
Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI.
Seyedhassani SM, Hashemi-Gorji F, Yavari M, Harazi F, Yassaee VR.
Fetal Pediatr Pathol 35(5):353-358. Epub 2016 Jun 30. 2016
6FKBP10, SERPINH1
HSP47 and FKBP65 cooperate in the synthesis of type I procollagen.
Duran I, Nevarez L, Sarukhanov A, Wu S, Lee K, Krejci P, Weis M, Eyre D, Krakow D, Cohn DH.
Hum Mol Genet 24(7):1918-28. doi: 10.1093/hmg/ddu608. Epub 2014 Dec 15. 2015
7BRKS1, 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
8FKBP10
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.
Hum Mol Genet 23(18):4822-31. doi: 10.1093/hmg/ddu197. 2014
9BRKS1, 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
10BRKS1, 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
11FKBP10
Elastin binding protein and FKBP65 modulate in vitro self-assembly of human tropoelastin.
Miao M, Reichheld SE, Muiznieks LD, Huang Y, Keeley FW.
Biochemistry 52(44):7731-41. doi: 10.1021/bi400760f. 2013
12FKBP10
FKBP10/FKBP65 expression in high-grade ovarian serous carcinoma and its association with patient outcome.
Quinn MC, Wojnarowicz PM, Pickett A, Provencher DM, Mes-Masson AM, Davis EC, Tonin PN.
Int J Oncol 42(3):912-20. doi: 10.3892/ijo.2013.1797. 2013
13ELN, FKBP10
Elastin binding protein and FKBP65 modulate in vitro self-assembly of human tropoelastin.
Miao M, Reichheld SE, Muiznieks LD, Huang Y, Keeley FW.
Biochemistry 52(44):7731-41. doi: 10.1021/bi400760f. Epub 2013 Oct 24. 2013
14FKBP10, OIDP
A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect.
Venturi G, Monti E, Dalle Carbonare L, Corradi M, Gandini A, Valenti MT, Boner A, Antoniazzi F.
Bone 50(1):343-9. Epub 2011 Oct 30. 2012
15FKBP10, OIDP
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 33(11):1589-98. doi: 10.1002/humu.22139. Epub 2012 Jul 16. 2012
16BRKS1, 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
17FKBP10
Expression of FK506 binding protein 65 (FKBP65) is decreased in epithelial ovarian cancer cells compared to benign tumor cells and to ovarian epithelium.
Henriksen R, Sørensen FB, Ørntoft TF, Birkenkamp-Demtroder K.
Tumour Biol 32(4):671-6. Epub 2011 Mar 12. 2011
18BRKS1, 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
19FKBP10, OIDP
Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.
Steinlein OK, Aichinger E, Trucks H, Sander T.
BMC Med Genet 12:152. 2011
20FKBP10, OIDP
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 86(4):551-9. Epub 2010 Apr 1.PMID: 20362275 2010
21FKBP10
Effect of FKBP65, a putative elastin chaperone, on the coacervation of tropoelastin in vitro.
Cheung KL, Bates M, Ananthanarayanan VS.
Biochem Cell Biol 88(6):917-25. 2010
22FKBP10
The rough endoplasmic reticulum-resident FK506-binding protein FKBP65 is a molecular chaperone that interacts with collagens.
Ishikawa Y, Vranka J, Wirz J, Nagata K, Bächinger HP.
J Biol Chem 283(46):31584-90. Epub 2008 Sep 10. 2008
23FKBP10, FKBP11, FKBP14, FKBP7, FKBP9
Genomic Organization of Mouse and Human 65 kDa FK506-Binding Protein Genes and Evolution of the FKBP Multigene Family.
Patterson CE, Gao J, Rooney AP, Davis EC.
Genomics 79(6):881-9. 2002
24FKBP10
Developmental regulation of FKBP65. An ER-localized extracellular matrix binding-protein.
Patterson CE, Schaub T, Coleman EJ, Davis EC.
Mol Biol Cell 11(11):3925-35. 2000