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1.
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.
J Clin Invest
; 83(2): 574-84, 1989 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-2913053
2.
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.
Am J Med Genet
; 34(1): 60-7, 1989 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-2683782
3.
Structure of cDNAs encoding the triple-helical domain of murine alpha 2 (VI) collagen chain and comparison to human and chick homologues. Use of polymerase chain reaction and partially degenerate oligonucleotide for generation of novel cDNA clones.
Matrix
; 11(1): 1-9, 1991 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-1709252
4.
Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution.
Biochem J
; 279 ( Pt 3): 747-52, 1991 Nov 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-1953667
5.
A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR.
Am J Hum Genet
; 48(6): 1186-91, 1991 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-2035536
6.
Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix.
J Biol Chem
; 266(24): 15608-13, 1991 Aug 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-1874719
7.
The A and B fragments of normal type I procollagen have a similar thermal stability to proteinase digestion but are selectively destabilized by structural mutations.
Eur J Biochem
; 163(2): 247-51, 1987 Mar 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-3545829
8.
Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino acid specific.
J Biol Chem
; 264(33): 19694-9, 1989 Nov 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-2511192
9.
Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1).
Am J Hum Genet
; 47(4): 670-9, 1990 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-2220807
10.
A single base mutation that converts glycine 907 of the alpha 2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple helix.
J Biol Chem
; 264(5): 3002-6, 1989 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-2914942
11.
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.
Proc Natl Acad Sci U S A
; 88(12): 5423-7, 1991 Jun 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-2052622
12.
Completion of the last half of the structure of the human gene for the Pro alpha 1 (I) chain of type I procollagen (COL1A1).
Matrix
; 11(6): 375-9, 1991 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-1787829
13.
The substitution of arginine for glycine 85 of the alpha 1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen.
J Biol Chem
; 266(32): 21827-32, 1991 Nov 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-1718984
14.
Expression of type I procollagen genes.
Ciba Found Symp
; 136: 142-60, 1988.
Artículo
en Inglés
| MEDLINE | ID: mdl-3068007
15.
An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy.
Genomics
; 13(1): 115-21, 1992 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-1577476
16.
Mutations in type I procollagen genes that cause osteogenesis imperfecta.
Adv Hum Genet
; 19: 105-32, 1990.
Artículo
en Inglés
| MEDLINE | ID: mdl-2193488
17.
A sequence polymorphism in the 3'-nontranslated region of the pro alpha 1 chain of type I procollagen.
Nucleic Acids Res
; 18(16): 4968, 1990 Aug 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-1975686
18.
G to A polymorphism in exon 45 of the COL1A1 gene.
Nucleic Acids Res
; 19(15): 4302, 1991 Aug 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-1870989
19.
PvuII polymorphism at the COL1A2 locus.
Nucleic Acids Res
; 18(18): 5577, 1990 Sep 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-1977119
20.
Three new polymorphisms at the COL1A2 locus.
Matrix
; 12(2): 87-91, 1992 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-1603040
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