A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)52374-7 ◽

1991 ◽

Vol 266 (3) ◽

pp. 1872-1878

Author(s):

M Valli ◽

M Mottes ◽

R Tenni ◽

A Sangalli ◽

M Gomez Lira ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

De Novo ◽

Collagen Gene ◽

Helical Domain ◽

Triple Helical Domain ◽

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The mouse type X collagen gene: nucleotide sequence, promoter analysis and generation of transgenic mice harboring a 68-amino acid deletion in the triple-helical domain of the gene

Matrix Biology ◽

10.1016/0945-053x(94)90158-9 ◽

1994 ◽

Vol 14 (5) ◽

pp. 414

Author(s):

Kati Elima ◽

Iiro Eerola ◽

Merja Markkula ◽

Kirsi Kananent ◽

Rita Rosati ◽

...

Keyword(s):

Nucleotide Sequence ◽

Transgenic Mice ◽

Promoter Analysis ◽

Collagen Gene ◽

Amino Acid Deletion ◽

Type X Collagen ◽

Helical Domain ◽

Gene Nucleotide Sequence ◽

Triple Helical Domain

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Structural study of a mutant type I collagen from a patient with lethal osteogenesis imperfecta containing an intramolecular disulfide bond in the triple-helical domain

FEBS Letters ◽

10.1016/0014-5793(86)80407-0 ◽

1986 ◽

Vol 198 (2) ◽

pp. 213-216 ◽

Author(s):

Wolfie Traub ◽

Beat Steinmann

Keyword(s):

Osteogenesis Imperfecta ◽

Structural Study ◽

Disulfide Bond ◽

Type I Collagen ◽

Type I ◽

Mutant Type ◽

Helical Domain ◽

Intramolecular Disulfide Bond ◽

Triple Helical Domain

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Degeneration of articular cartilage in mice carrying deletion mutation in type II collagen gene at th triple helical domain

Matrix Biology ◽

10.1016/0945-053x(94)90153-8 ◽

1994 ◽

Vol 14 (5) ◽

pp. 411

Author(s):

M. Metsäranta ◽

A.-M. Säämänen ◽

E. Vuorio

Keyword(s):

Articular Cartilage ◽

Type Ii Collagen ◽

Deletion Mutation ◽

Collagen Gene ◽

Type Ii ◽

Helical Domain ◽

Triple Helical Domain

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Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)68560-6 ◽

1988 ◽

Vol 263 (16) ◽

pp. 7734-7740 ◽

Author(s):

R J Wenstrup ◽

D H Cohn ◽

T Cohen ◽

P H Byers

Keyword(s):

Osteogenesis Imperfecta ◽

Osteogenesis Imperfecta Type ◽

Helical Domain ◽

Type Iv ◽

Glycine Substitution ◽

Triple Helical Domain

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Cysteine in the triple helical domain of the pro?2(I) chain of type-I collagen in nonlethal forms of osteogenesis imperfecta

Human Genetics ◽

10.1007/bf00204175 ◽

1991 ◽

Vol 87 (2) ◽

pp. 167-172 ◽

Author(s):

Daniel H. Cohn ◽

Peter H. Byers

Keyword(s):

Osteogenesis Imperfecta ◽

Type I Collagen ◽

Type I ◽

Helical Domain ◽

Triple Helical Domain

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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

PLoS ONE ◽

10.1371/journal.pone.0200264 ◽

2018 ◽

Vol 13 (7) ◽

pp. e0200264 ◽

Author(s):

Elena Makareeva ◽

Guoli Sun ◽

Lynn S. Mirigian ◽

Edward L. Mertz ◽

Juan C. Vera ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Type I ◽

Helical Domain ◽

Type I Procollagen ◽

Triple Helical Domain

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Possible role of overglycosylation in the type I collagen triple helical domain in the molecular pathogenesis of osteogenesis imperfecta

American Journal of Medical Genetics ◽

10.1002/ajmg.1320450219 ◽

1993 ◽

Vol 45 (2) ◽

pp. 252-256 ◽

Author(s):

Ruggero Tenni ◽

Maurizia Valli ◽

Antonio Rossi ◽

Giuseppe Cetta

Keyword(s):

Osteogenesis Imperfecta ◽

Type I Collagen ◽

Molecular Pathogenesis ◽

Type I ◽

Helical Domain ◽

Triple Helical Domain

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Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(17)44798-3 ◽

1990 ◽

Vol 265 (30) ◽

pp. 18628-18633 ◽

Author(s):

G A Wallis ◽

B J Starman ◽

M F Schwartz ◽

P H Byers

Keyword(s):

Osteogenesis Imperfecta ◽

Type I Collagen ◽

Type I ◽

Helical Domain ◽

Triple Helical Domain

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Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)90631-9 ◽

1984 ◽

Vol 259 (17) ◽

pp. 11129-11138 ◽

Author(s):

B Steinmann ◽

V H Rao ◽

A Vogel ◽

P Bruckner ◽

R Gitzelmann ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Type I Collagen ◽

Type I ◽

Helical Domain ◽

Triple Helical Domain ◽

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A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinase.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)74072-1 ◽

1992 ◽

Vol 267 (35) ◽

pp. 25529-25534 ◽

Author(s):

G.A. Wallis ◽

K.E. Kadler ◽

B.J. Starman ◽

P.H. Byers

Keyword(s):

Osteogenesis Imperfecta ◽

Type I ◽

Helical Domain ◽

Type I Procollagen ◽

Triple Helical Domain

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