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

Darwin J. Prockop; Constantinos D. Constantinou; Kenneth E. Dombrowski; Yoshio Hojima; Karl E. Kadler; Helena Kuivaniemi; Gerard Tromp; Bruce E. Vogel

doi:10.1002/ajmg.1320340112

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

American Journal of Medical Genetics ◽

10.1002/ajmg.1320340112 ◽

1989 ◽

Vol 34 (1) ◽

pp. 60-67 ◽

Cited By ~ 65

Author(s):

Darwin J. Prockop ◽

Constantinos D. Constantinou ◽

Kenneth E. Dombrowski ◽

Yoshio Hojima ◽

Karl E. Kadler ◽

...

Keyword(s):

Connective Tissue ◽

Osteogenesis Imperfecta ◽

Type I ◽

Protein System ◽

Type I Procollagen

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The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1 (I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrix.

Journal of Medical Genetics ◽

10.1136/jmg.33.11.965 ◽

1996 ◽

Vol 33 (11) ◽

pp. 965-967 ◽

Cited By ~ 2

Author(s):

W G Cole ◽

C W Chow ◽

J F Bateman ◽

D O Sillence

Keyword(s):

Extracellular Matrix ◽

Osteogenesis Imperfecta ◽

Type I ◽

Type I Procollagen ◽

Carboxyl Terminal ◽

Phenotypic Features

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Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta

Journal of Medical Genetics ◽

10.1136/jmg.38.7.443 ◽

2001 ◽

Vol 38 (7) ◽

pp. 443-449 ◽

Cited By ~ 38

Author(s):

J. M Pace

Keyword(s):

Osteogenesis Imperfecta ◽

Disulphide Bond ◽

Type I ◽

Type I Procollagen ◽

Carboxyl Terminal

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Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.88.12.5423 ◽

1991 ◽

Vol 88 (12) ◽

pp. 5423-5427 ◽

Cited By ~ 92

Author(s):

L. D. Spotila ◽

C. D. Constantinou ◽

L. Sereda ◽

A. Ganguly ◽

B. L. Riggs ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Postmenopausal Osteoporosis ◽

Type I ◽

Type I Procollagen

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Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

Human Molecular Genetics ◽

10.1093/hmg/ddr037 ◽

2011 ◽

Vol 20 (8) ◽

pp. 1595-1609 ◽

Cited By ~ 92

Author(s):

Shawna M. Pyott ◽

Ulrike Schwarze ◽

Helena E. Christiansen ◽

Melanie G. Pepin ◽

Dru F. Leistritz ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Type I ◽

Cyclophilin B ◽

Type I Procollagen

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Bone fragility in transgenic mice expressing a mutated gene for type I procollagen (COL1A1) parallels the age-dependent phenotype of human osteogenesis imperfecta

Journal of Bone and Mineral Research ◽

10.1002/jbmr.5650101202 ◽

2009 ◽

Vol 10 (12) ◽

pp. 1837-1843 ◽

Cited By ~ 29

Author(s):

Ruth F. Pereira ◽

Eric L. Hume ◽

Kenneth W. Halford ◽

Darwin J. Prockop

Keyword(s):

Transgenic Mice ◽

Osteogenesis Imperfecta ◽

Bone Fragility ◽

Type I ◽

Type I Procollagen ◽

Age Dependent

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Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.78.8.5142 ◽

1981 ◽

Vol 78 (8) ◽

pp. 5142-5146 ◽

Cited By ~ 107

Author(s):

G. S. Barsh ◽

P. H. Byers

Keyword(s):

Osteogenesis Imperfecta ◽

Type I ◽

Type I Procollagen

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Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.79.12.3838 ◽

1982 ◽

Vol 79 (12) ◽

pp. 3838-3842 ◽

Cited By ~ 73

Author(s):

G. S. Barsh ◽

K. E. David ◽

P. H. Byers

Keyword(s):

Osteogenesis Imperfecta ◽

Type I ◽

Type I Procollagen

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A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen.

Journal of Clinical Investigation ◽

10.1172/jci113920 ◽

1989 ◽

Vol 83 (2) ◽

pp. 574-584 ◽

Cited By ~ 42

Author(s):

C D Constantinou ◽

K B Nielsen ◽

D J Prockop

Keyword(s):

Osteogenesis Imperfecta ◽

Type I ◽

Single Base ◽

Type I Procollagen ◽

Unstable Type

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Positive Linear Growth and Bone Responses to Growth Hormone Treatment in Children With Types III and IV Osteogenesis Imperfecta: High Predictive Value of the Carboxyterminal Propeptide of Type I Procollagen

Journal of Bone and Mineral Research ◽

10.1359/jbmr.2003.18.2.237 ◽

2003 ◽

Vol 18 (2) ◽

pp. 237-243 ◽

Cited By ~ 69

Author(s):

Joan C Marini ◽

Elizabeth Hopkins ◽

Francis H Glorieux ◽

George P Chrousos ◽

James C Reynolds ◽

...

Keyword(s):

Growth Hormone ◽

Osteogenesis Imperfecta ◽

Predictive Value ◽

Linear Growth ◽

Growth Hormone Treatment ◽

Hormone Treatment ◽

Type I ◽

Type I Procollagen

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Type I Collagen Structural Genes in Osteogenesis Imperfecta and other Heritable Disorders of Connective Tissue

Clinical Science ◽

10.1042/cs072022pb ◽

1987 ◽

Vol 72 (s16) ◽

pp. 22P-23P

Author(s):

B P Wordsworth ◽

D J Ogilvie ◽

B C Sykes

Keyword(s):

Connective Tissue ◽

Osteogenesis Imperfecta ◽

Type I Collagen ◽

Type I ◽

Structural Genes

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