AR051582/AR/NIAMS NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
2005	2
2006	1
2007	1
2008	3
2009	2
2010	1
2011	3
2018	1
2024	0

1

Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta.

Makareeva E, Sun G, Mirigian LS, Mertz EL, Vera JC, Espinoza NA, Yang K, Chen D, Klein TE, Byers PH, Leikin S. Makareeva E, et al. PLoS One. 2018 Jul 10;13(7):e0200264. doi: 10.1371/journal.pone.0200264. eCollection 2018. PLoS One. 2018. PMID: 29990383 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

Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance.

Pyott SM, Pepin MG, Schwarze U, Yang K, Smith G, Byers PH. Pyott SM, et al. Genet Med. 2011 Feb;13(2):125-30. doi: 10.1097/GIM.0b013e318202e0f6. Genet Med. 2011. PMID: 21239989 Free article.

4

Molecular dynamics simulations of the full triple helical region of collagen type I provide an atomic scale view of the protein's regional heterogeneity.

Bodian DL, Radmer RJ, Holbert S, Klein TE. Bodian DL, et al. Pac Symp Biocomput. 2011:193-204. doi: 10.1142/9789814335058_0021. Pac Symp Biocomput. 2011. PMID: 21121047 Free PMC article.

5

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. Christiansen HE, et al. Am J Hum Genet. 2010 Mar 12;86(3):389-98. doi: 10.1016/j.ajhg.2010.01.034. Epub 2010 Feb 25. Am J Hum Genet. 2010. PMID: 20188343 Free PMC article.

6

COLdb, a database linking genetic data to molecular function in fibrillar collagens.

Bodian DL, Klein TE. Bodian DL, et al. Hum Mutat. 2009 Jun;30(6):946-51. doi: 10.1002/humu.20978. Hum Mutat. 2009. PMID: 19370761

7

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, Kwok PY, Klein TE. Bodian DL, et al. Hum Mol Genet. 2009 Feb 1;18(3):463-71. doi: 10.1093/hmg/ddn374. Epub 2008 Nov 7. Hum Mol Genet. 2009. PMID: 18996919 Free PMC article.

8

Predicting the clinical lethality of osteogenesis imperfecta from collagen glycine mutations.

Bodian DL, Madhan B, Brodsky B, Klein TE. Bodian DL, et al. Biochemistry. 2008 May 13;47(19):5424-32. doi: 10.1021/bi800026k. Epub 2008 Apr 16. Biochemistry. 2008. PMID: 18412368

9

Natural variation in four human collagen genes across an ethnically diverse population.

Chan TF, Poon A, Basu A, Addleman NR, Chen J, Phong A, Byers PH, Klein TE, Kwok PY. Chan TF, et al. Genomics. 2008 Apr;91(4):307-14. doi: 10.1016/j.ygeno.2007.12.008. Epub 2008 Feb 12. Genomics. 2008. PMID: 18272325 Free PMC article.

10

Folding and misfolding of the collagen triple helix: Markov analysis of molecular dynamics simulations.

Park S, Klein TE, Pande VS. Park S, et al. Biophys J. 2007 Dec 15;93(12):4108-15. doi: 10.1529/biophysj.107.108100. Epub 2007 Aug 31. Biophys J. 2007. PMID: 17766343 Free PMC article.

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