These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
143 related articles for article (PubMed ID: 8829649)
1. Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta. Zhuang J; Tromp G; Kuivaniemi H; Castells S; Bugge M; Prockop DJ Hum Mutat; 1996; 7(2):89-99. PubMed ID: 8829649 [TBL] [Abstract][Full Text] [Related]
2. Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism. Lund AM; Schwartz M; Raghunath M; Steinmann B; Skovby F Eur J Hum Genet; 1996; 4(1):39-45. PubMed ID: 8800927 [TBL] [Abstract][Full Text] [Related]
3. Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N-proteinase. Lightfoot SJ; Atkinson MS; Murphy G; Byers PH; Kadler KE J Biol Chem; 1994 Dec; 269(48):30352-7. PubMed ID: 7982948 [TBL] [Abstract][Full Text] [Related]
4. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. Körkkö J; Ala-Kokko L; De Paepe A; Nuytinck L; Earley J; Prockop DJ Am J Hum Genet; 1998 Jan; 62(1):98-110. PubMed ID: 9443882 [TBL] [Abstract][Full Text] [Related]
5. Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to define an unusual mutation. Ganguly A; Baldwin CT; Strobel D; Conway D; Horton W; Prockop DJ J Biol Chem; 1991 Jun; 266(18):12035-40. PubMed ID: 1711048 [TBL] [Abstract][Full Text] [Related]
6. Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding. Oliver JE; Thompson EM; Pope FM; Nicholls AC Hum Mutat; 1996; 7(4):318-26. PubMed ID: 8723681 [TBL] [Abstract][Full Text] [Related]
7. A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals. Rose NJ; Mackay K; Byers PH; Dalgleish R Hum Mutat; 1994; 3(4):391-4. PubMed ID: 8081394 [No Abstract] [Full Text] [Related]
8. 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. Zhuang JP; Constantinou CD; Ganguly A; Prockop DJ Am J Hum Genet; 1991 Jun; 48(6):1186-91. PubMed ID: 2035536 [TBL] [Abstract][Full Text] [Related]
9. SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. Mackay K; Lund AM; Raghunath M; Steinmann B; Dalgleish R Hum Genet; 1993 Jun; 91(5):439-44. PubMed ID: 8100209 [TBL] [Abstract][Full Text] [Related]
10. Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology. Marini JC; Lewis MB; Wang Q; Chen KJ; Orrison BM J Biol Chem; 1993 Feb; 268(4):2667-73. PubMed ID: 8094076 [TBL] [Abstract][Full Text] [Related]
11. Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly. Lamandé SR; Chessler SD; Golub SB; Byers PH; Chan D; Cole WG; Sillence DO; Bateman JF J Biol Chem; 1995 Apr; 270(15):8642-9. PubMed ID: 7721766 [TBL] [Abstract][Full Text] [Related]
12. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease. Edwards MJ; Wenstrup RJ; Byers PH; Cohn DH Hum Mutat; 1992; 1(1):47-54. PubMed ID: 1301191 [TBL] [Abstract][Full Text] [Related]
13. 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. Steinmann B; Westerhausen A; Constantinou CD; Superti-Furga A; Prockop DJ Biochem J; 1991 Nov; 279 ( Pt 3)(Pt 3):747-52. PubMed ID: 1953667 [TBL] [Abstract][Full Text] [Related]
14. 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. Constantinou CD; Nielsen KB; Prockop DJ J Clin Invest; 1989 Feb; 83(2):574-84. PubMed ID: 2913053 [TBL] [Abstract][Full Text] [Related]
15. Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I. Willing MC; Cohn DH; Byers PH J Clin Invest; 1990 Jan; 85(1):282-90. PubMed ID: 2295701 [TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 2683782 [TBL] [Abstract][Full Text] [Related]
17. Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV. De Vos A; Sermon K; Van de Velde H; Joris H; Vandervorst M; Lissens W; De Paepe A; Liebaers I; Van Steirteghem A Hum Genet; 2000 Jun; 106(6):605-13. PubMed ID: 10942108 [TBL] [Abstract][Full Text] [Related]
18. Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent. Wallis GA; Starman BJ; Zinn AB; Byers PH Am J Hum Genet; 1990 Jun; 46(6):1034-40. PubMed ID: 2339700 [TBL] [Abstract][Full Text] [Related]
19. 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. Baldwin CT; Constantinou CD; Dumars KW; Prockop DJ J Biol Chem; 1989 Feb; 264(5):3002-6. PubMed ID: 2914942 [TBL] [Abstract][Full Text] [Related]
20. Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. Ries-Levavi L; Ish-Shalom T; Frydman M; Lev D; Cohen S; Barkai G; Goldman B; Byers P; Friedman E Hum Mutat; 2004 Apr; 23(4):399-400. PubMed ID: 15024745 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]