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Items: 1 to 20 of 57

1.
2.
3.

Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.

Gajko-Galicka A.

Acta Biochim Pol. 2002;49(2):433-41. Review.

4.

The importance of proline residues in the structure, stability and susceptibility to proteolytic degradation of collagens.

Krane SM.

Amino Acids. 2008 Nov;35(4):703-10. doi: 10.1007/s00726-008-0073-2. Epub 2008 Apr 23. Review.

PMID:
18431533
5.

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, Coucke P, Symoens S, Glorieux FH, Roughley PJ, Lund AM, Kuurila-Svahn K, Hartikka H, Cohn DH, Krakow D, Mottes M, Schwarze U, Chen D, Yang K, Kuslich C, Troendle J, Dalgleish R, Byers PH.

Hum Mutat. 2007 Mar;28(3):209-21. Review.

6.

Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue.

Prockop DJ, Constantinou CD, Dombrowski KE, Hojima Y, Kadler KE, Kuivaniemi H, Tromp G, Vogel BE.

Am J Med Genet. 1989 Sep;34(1):60-7. Review.

PMID:
2683782
7.

Inherited disorders of collagen gene structure and expression.

Byers PH.

Am J Med Genet. 1989 Sep;34(1):72-80. Review.

PMID:
2683783
8.

OIM and related animal models of osteogenesis imperfecta.

Shapiro JR, Mcbride DJ Jr, Fedarko NS.

Connect Tissue Res. 1995;31(4):265-8. Review.

PMID:
15612365
9.

[Biochemical markers of bone turnover. New aspect. Metabolic bone markers in osteogenesis imperfecta].

Tanaka H.

Clin Calcium. 2009 Aug;19(8):1142-7. doi: CliCa090811421147. Review. Japanese.

PMID:
19638698
10.

Folding of peptide models of collagen and misfolding in disease.

Baum J, Brodsky B.

Curr Opin Struct Biol. 1999 Feb;9(1):122-8. Review.

PMID:
10047579
11.

Osteogenesis imperfecta and its molecular diagnosis by determination of mutations of type I collagen genes.

Tedeschi E, Antoniazzi F, Venturi G, Zamboni G, Tatò L.

Pediatr Endocrinol Rev. 2006 Sep;4(1):40-6. Review.

PMID:
17021582
12.

Lethal mutations in type I collagen: structure-function relationships in the type I collagen molecule.

Byers PH, Bonadio JF.

Birth Defects Orig Artic Ser. 1984;20(3):65-77. Review. No abstract available.

PMID:
6391576
13.

Perinatal lethal osteogenesis imperfecta.

Cole WG, Dalgleish R.

J Med Genet. 1995 Apr;32(4):284-9. Review.

14.

Collagen structure: the Madras triple helix and the current scenario.

Bhattacharjee A, Bansal M.

IUBMB Life. 2005 Mar;57(3):161-72. Review.

15.

Brittle bones--fragile molecules: disorders of collagen gene structure and expression.

Byers PH.

Trends Genet. 1990 Sep;6(9):293-300. Review.

PMID:
2238087
16.

Gene therapy approaches for osteogenesis imperfecta.

Niyibizi C, Wang S, Mi Z, Robbins PD.

Gene Ther. 2004 Feb;11(4):408-16. Review.

PMID:
14724682
17.

Triple-helical peptides: an approach to collagen conformation, stability, and self-association.

Brodsky B, Thiagarajan G, Madhan B, Kar K.

Biopolymers. 2008 May;89(5):345-53. doi: 10.1002/bip.20958. Review.

PMID:
18275087
18.

Site-directed mutagenesis of type I collagen: effect on susceptibility to collagenase.

Krane SM, Jaenisch R.

Matrix Suppl. 1992;1:64-7. Review.

PMID:
1480089
19.

Osteogenesis imperfecta: prospects for molecular therapeutics.

Forlino A, Marini JC.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):225-32. Review.

PMID:
11001814
20.

Deficient expression of the small proteoglycan decorin in a case of severe/lethal osteogenesis imperfecta.

Dyne KM, Valli M, Forlino A, Mottes M, Kresse H, Cetta G.

Am J Med Genet. 1996 May 3;63(1):161-6. Review.

PMID:
8723103

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