239 related articles for article (PubMed ID: 7847372)
21. A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing the triple helix.
Bateman JF; Chan D; Moeller I; Hannagan M; Cole WG
Biochem J; 1994 Sep; 302 ( Pt 3)(Pt 3):729-35. PubMed ID: 7945197
[TBL] [Abstract][Full Text] [Related]
22. A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita.
Li S; Zhou H; Qin H; Guo H; Bai Y
Joint Bone Spine; 2014 Jan; 81(1):86-9. PubMed ID: 23932928
[TBL] [Abstract][Full Text] [Related]
23. A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.
Donahue LR; Chang B; Mohan S; Miyakoshi N; Wergedal JE; Baylink DJ; Hawes NL; Rosen CJ; Ward-Bailey P; Zheng QY; Bronson RT; Johnson KR; Davisson MT
J Bone Miner Res; 2003 Sep; 18(9):1612-21. PubMed ID: 12968670
[TBL] [Abstract][Full Text] [Related]
24. Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis.
Bleasel JF; Bisagni-Faure A; Holderbaum D; Vacher-Lavenu MC; Haqqi TM; Moskowitz RW; Menkes CJ
J Rheumatol; 1995 Feb; 22(2):255-61. PubMed ID: 7738948
[TBL] [Abstract][Full Text] [Related]
25. Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix.
Chiodo AA; Sillence DO; Cole WG; Bateman JF
Biochem J; 1995 Nov; 311 ( Pt 3)(Pt 3):939-43. PubMed ID: 7487954
[TBL] [Abstract][Full Text] [Related]
26. Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).
Williams CJ; Considine EL; Knowlton RG; Reginato A; Neumann G; Harrison D; Buxton P; Jimenez S; Prockop DJ
Hum Genet; 1993 Nov; 92(5):499-505. PubMed ID: 8244341
[TBL] [Abstract][Full Text] [Related]
27. An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.
Bogaert R; Tiller GE; Weis MA; Gruber HE; Rimoin DL; Cohn DH; Eyre DR
J Biol Chem; 1992 Nov; 267(31):22522-6. PubMed ID: 1429602
[TBL] [Abstract][Full Text] [Related]
28. Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
Lee B; Vissing H; Ramirez F; Rogers D; Rimoin D
Science; 1989 May; 244(4907):978-80. PubMed ID: 2543071
[TBL] [Abstract][Full Text] [Related]
29. A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita.
Almatrafi A; Alfadhli F; Khan YN; Afzal S; Hashmi JA; Ullah A; Albalawi AM; Basit S
Genet Test Mol Biomarkers; 2019 May; 23(5):310-315. PubMed ID: 30932712
[No Abstract] [Full Text] [Related]
30. Recurrent transition at a CG dinucleotide in exon 12 of COL2A1 produces kniest dysplasia with abnormal RNA splicing by chondrocytes and lymphoblasts and interruption of the triple helix of type II collagen.
Chen L; Yang W; Cole WG
Ann N Y Acad Sci; 1996 Jun; 785():234-7. PubMed ID: 8702139
[No Abstract] [Full Text] [Related]
31. Molecular prenatal diagnosis in 2 pregnancies at risk for spondyloepiphyseal dysplasia congenita.
Xia XY; Cui YX; Huang YF; Pan LJ; Feng Y; Yang B; Li XJ; Zhu PY; Shi YC; Liang Q
Clin Chim Acta; 2008 Jan; 387(1-2):153-7. PubMed ID: 17920052
[TBL] [Abstract][Full Text] [Related]
32. Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta.
Zhuang J; Tromp G; Kuivaniemi H; Nakayasu K; Prockop DJ
Hum Genet; 1993 Apr; 91(3):210-6. PubMed ID: 7916744
[TBL] [Abstract][Full Text] [Related]
33. Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.
Zheng WB; Li LJ; Zhao DC; Wang O; Jiang Y; Xia WB; Xing XP; Li M
Mol Genet Genomic Med; 2020 Mar; 8(3):e1139. PubMed ID: 31972903
[TBL] [Abstract][Full Text] [Related]
34. [Osteochondrodysplasia determined genetically by a collagen type II gene mutation].
Czarny-Ratajczak M; Rogala P; Wolnik-Brzozowska D; Latos-Bieleńska A
Chir Narzadow Ruchu Ortop Pol; 2001; 66(1):79-86. PubMed ID: 11481990
[TBL] [Abstract][Full Text] [Related]
35. Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.
Körkkö J; Cohn DH; Ala-Kokko L; Krakow D; Prockop DJ
Am J Med Genet; 2000 May; 92(2):95-100. PubMed ID: 10797431
[TBL] [Abstract][Full Text] [Related]
36. Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.
Mortier GR; Weis M; Nuytinck L; King LM; Wilkin DJ; De Paepe A; Lachman RS; Rimoin DL; Eyre DR; Cohn DH
J Med Genet; 2000 Apr; 37(4):263-71. PubMed ID: 10745044
[TBL] [Abstract][Full Text] [Related]
37. A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family.
Zhou T; Yang X; Chen Z; Zhou Y; Cao X; Zhao C; Zhao J
J Clin Lab Anal; 2021 Apr; 35(4):e23728. PubMed ID: 33590889
[TBL] [Abstract][Full Text] [Related]
38. Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.
Bonaventure J; Cohen-Solal L; Ritvaniemi P; Van Maldergem L; Kadhom N; Delezoide AL; Maroteaux P; Prockop DJ; Ala-Kokko L
Biochem J; 1995 May; 307 ( Pt 3)(Pt 3):823-30. PubMed ID: 7741714
[TBL] [Abstract][Full Text] [Related]
39. An alpha 1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis.
Mundlos S; Chan D; McGill J; Bateman JF
Am J Med Genet; 1996 May; 63(1):129-36. PubMed ID: 8723098
[TBL] [Abstract][Full Text] [Related]
40. Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita.
Li H; Ma L; Wang B; Cui Y; Xiao T
Eur Spine J; 2015 Aug; 24(8):1813-9. PubMed ID: 25967556
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]