PubMed (OMIM) for id: 5479

Year	Number of Results
1979	1
1989	1
1991	1
1992	1
2001	1
2004	1
2005	1
2007	1
2009	1
2010	2
2011	1
2012	1
2024	0

1

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. Barnes AM, et al. Hum Mutat. 2012 Nov;33(11):1589-98. doi: 10.1002/humu.22139. Epub 2012 Jul 16. Hum Mutat. 2012. PMID: 22718341 Free PMC article.

2

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. Pyott SM, et al. Hum Mol Genet. 2011 Apr 15;20(8):1595-609. doi: 10.1093/hmg/ddr037. Epub 2011 Jan 31. Hum Mol Genet. 2011. PMID: 21282188 Free PMC article.

3

Osteogenesis imperfecta, normal collagen folding, and lack of cyclophilin B.

van Dijk FS, Cobben JM, Pals G. van Dijk FS, et al. N Engl J Med. 2010 May 20;362(20):1940-1; author reply 1941-2. doi: 10.1056/NEJMc1002797. N Engl J Med. 2010. PMID: 20484404 No abstract available.

4

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.

Barnes AM, Carter EM, Cabral WA, Weis M, Chang W, Makareeva E, Leikin S, Rotimi CN, Eyre DR, Raggio CL, Marini JC. Barnes AM, et al. N Engl J Med. 2010 Feb 11;362(6):521-8. doi: 10.1056/NEJMoa0907705. Epub 2010 Jan 20. N Engl J Med. 2010. PMID: 20089953 Free PMC article.

5

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. van Dijk FS, et al. Am J Hum Genet. 2009 Oct;85(4):521-7. doi: 10.1016/j.ajhg.2009.09.001. Epub 2009 Sep 24. Am J Hum Genet. 2009. PMID: 19781681 Free PMC article.

6

Homozygosity mapping approach identifies a missense mutation in equine cyclophilin B (PPIB) associated with HERDA in the American Quarter Horse.

Tryon RC, White SD, Bannasch DL. Tryon RC, et al. Genomics. 2007 Jul;90(1):93-102. doi: 10.1016/j.ygeno.2007.03.009. Epub 2007 May 11. Genomics. 2007. PMID: 17498917 Free article.

7

Cyclophilin B is a functional regulator of hepatitis C virus RNA polymerase.

Watashi K, Ishii N, Hijikata M, Inoue D, Murata T, Miyanari Y, Shimotohno K. Watashi K, et al. Mol Cell. 2005 Jul 1;19(1):111-22. doi: 10.1016/j.molcel.2005.05.014. Mol Cell. 2005. PMID: 15989969 Free article.

8

Identification of FHOD1-binding proteins and mechanisms of FHOD1-regulated actin dynamics.

Westendorf JJ, Koka S. Westendorf JJ, et al. J Cell Biochem. 2004 May 1;92(1):29-41. doi: 10.1002/jcb.20031. J Cell Biochem. 2004. PMID: 15095401

9

CD147 is a signaling receptor for cyclophilin B.

Yurchenko V, O'Connor M, Dai WW, Guo H, Toole B, Sherry B, Bukrinsky M. Yurchenko V, et al. Biochem Biophys Res Commun. 2001 Nov 9;288(4):786-8. doi: 10.1006/bbrc.2001.5847. Biochem Biophys Res Commun. 2001. PMID: 11688976

10

Phenotypical features of an unique Irish family with severe autosomal recessive osteogenesis imperfecta.

Williams EM, Nicholls AC, Daw SC, Mitchell N, Levin LS, Green B, MacKenzie J, Evans DR, Chudleigh PA, Pope FM. Williams EM, et al. Clin Genet. 1989 Mar;35(3):181-90. doi: 10.1111/j.1399-0004.1989.tb02926.x. Clin Genet. 1989. PMID: 2650933

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