PubMed (OMIM) for id: 64175

Year	Number of Results
1979	1
1987	1
1993	1
2000	1
2004	2
2007	1
2008	1
2009	2
2010	1
2012	1
2024	0

1

A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.

Cabral WA, Barnes AM, Adeyemo A, Cushing K, Chitayat D, Porter FD, Panny SR, Gulamali-Majid F, Tishkoff SA, Rebbeck TR, Gueye SM, Bailey-Wilson JE, Brody LC, Rotimi CN, Marini JC. Cabral WA, et al. Genet Med. 2012 May;14(5):543-51. doi: 10.1038/gim.2011.44. Epub 2012 Jan 26. Genet Med. 2012. PMID: 22281939 Free PMC article.

2

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.

Chang W, Barnes AM, Cabral WA, Bodurtha JN, Marini JC. Chang W, et al. Hum Mol Genet. 2010 Jan 15;19(2):223-34. doi: 10.1093/hmg/ddp481. Epub 2009 Oct 21. Hum Mol Genet. 2010. PMID: 19846465 Free PMC article.

3

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.

Willaert A, Malfait F, Symoens S, Gevaert K, Kayserili H, Megarbane A, Mortier G, Leroy JG, Coucke PJ, De Paepe A. Willaert A, et al. J Med Genet. 2009 Apr;46(4):233-41. doi: 10.1136/jmg.2008.062729. Epub 2008 Dec 16. J Med Genet. 2009. PMID: 19088120

4

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.

Cabral WA, Chang W, Barnes AM, Weis M, Scott MA, Leikin S, Makareeva E, Kuznetsova NV, Rosenbaum KN, Tifft CJ, Bulas DI, Kozma C, Smith PA, Eyre DR, Marini JC. Cabral WA, et al. Nat Genet. 2007 Mar;39(3):359-65. doi: 10.1038/ng1968. Epub 2007 Feb 4. Nat Genet. 2007. PMID: 17277775 Free PMC article.

5

LEPREL1, a novel ER and Golgi resident member of the Leprecan family.

Järnum S, Kjellman C, Darabi A, Nilsson I, Edvardsen K, Aman P. Järnum S, et al. Biochem Biophys Res Commun. 2004 Apr 30;317(2):342-51. doi: 10.1016/j.bbrc.2004.03.060. Biochem Biophys Res Commun. 2004. PMID: 15063763

6

Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes.

Vranka JA, Sakai LY, Bächinger HP. Vranka JA, et al. J Biol Chem. 2004 May 28;279(22):23615-21. doi: 10.1074/jbc.M312807200. Epub 2004 Mar 24. J Biol Chem. 2004. PMID: 15044469 Free article.

7

Gros1, a potential growth suppressor on chromosome 1: its identity to basement membrane-associated proteoglycan, leprecan.

Kaul SC, Sugihara T, Yoshida A, Nomura H, Wadhwa R. Kaul SC, et al. Oncogene. 2000 Jul 27;19(32):3576-83. doi: 10.1038/sj.onc.1203696. Oncogene. 2000. PMID: 10951563

8

Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.

Wallis GA, Sykes B, Byers PH, Mathew CG, Viljoen D, Beighton P. Wallis GA, et al. J Med Genet. 1993 Jun;30(6):492-6. doi: 10.1136/jmg.30.6.492. J Med Genet. 1993. PMID: 8100856 Free PMC article.

9

Osteogenesis imperfecta type III: an ancient mutation in Africa?

Viljoen D, Beighton P. Viljoen D, et al. Am J Med Genet. 1987 Aug;27(4):907-12. doi: 10.1002/ajmg.1320270417. Am J Med Genet. 1987. PMID: 3425600

10

Genetic heterogeneity in osteogenesis imperfecta.

Sillence DO, Senn A, Danks DM. Sillence DO, et al. J Med Genet. 1979 Apr;16(2):101-16. doi: 10.1136/jmg.16.2.101. J Med Genet. 1979. PMID: 458828 Free PMC article.

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