Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.
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M. Pericak-Vance | J. Vance | J. Stajich | K. Viles | M. Speer | R. Tandan | M. Chu | T. Pan | R. Zhang | T. Fries | Rui‐Zhu Zhang | Rui Zhu Zhang
[1] J. Sambrook,et al. Molecular Cloning: A Laboratory Manual , 2001 .
[2] M. Speer,et al. CA Repeat Polymorphism of theCOL6A3 Gene on Chromosome 2 q37 , 1998, Human Heredity.
[3] R. Timpl,et al. The role of the alpha3(VI) chain in collagen VI assembly. Expression of an alpha3(VI) chain lacking N-terminal modules N10-N7 restores collagen VI assembly, secretion, and matrix deposition in an alpha3(VI)-deficient cell line. , 1998, The Journal of biological chemistry.
[4] R. Timpl,et al. The Role of the α3(VI) Chain in Collagen VI Assembly , 1998, The Journal of Biological Chemistry.
[5] R. Glanville,et al. Type VI Collagen Anchors Endothelial Basement Membranes by Interacting with Type IV Collagen* , 1997, The Journal of Biological Chemistry.
[6] M. Hoylaerts,et al. von Willebrand factor binds to native collagen VI primarily via its A1 domain. , 1997, The Biochemical journal.
[7] F. Baas,et al. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures , 1996, Nature Genetics.
[8] R. Timpl,et al. Biosynthesis and processing of type XVI collagen in human fibroblasts and smooth muscle cells. , 1996, European journal of biochemistry.
[9] R. Timpl,et al. Deposition of collagen VI in the extracellular matrix during mouse embryogenesis correlates with expression of the alpha 3(VI) subunit gene. , 1996, Experimental cell research.
[10] J. Gilbert,et al. Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. , 1996, Human molecular genetics.
[11] F. Baas,et al. Genetic localization of Bethlem myopathy , 1996, Neurology.
[12] D. Leahy,et al. Crystal structure of the I-domain from the CD11a/CD18 (LFA-1, alpha L beta 2) integrin. , 1995, Proceedings of the National Academy of Sciences of the United States of America.
[13] P. Bonaldo,et al. Secretion and Matrix Assembly of Recombinant Type VI Collagen (*) , 1995, The Journal of Biological Chemistry.
[14] Y. Takada,et al. Critical Threonine and Aspartic Acid Residues within the I Domains of β2 Integrins for Interactions with Intercellular Adhesion Molecule 1 (ICAM-1) and C3bi (*) , 1995, The Journal of Biological Chemistry.
[15] R. Liddington,et al. Crystal structure of the A domain from the a subunit of integrin CR3 (CD11 b/CD18) , 1995, Cell.
[16] D. Prockop,et al. Rapid detection of mutations by conformation-sensitive gel electrophoresis. Application to the identification of a fourth family with the Arg519→Cys substitution and three new mutations in the type II procollagen gene , 1994 .
[17] D J Prockop,et al. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. , 1993, Proceedings of the National Academy of Sciences of the United States of America.
[18] P. Bonaldo,et al. Type A modules: interacting domains found in several non-fibrillar collagens and in other extracellular matrix proteins. , 1993, Matrix.
[19] R. Timpl,et al. Structure of recombinant N‐terminal globule of type VI collagen alpha 3 chain and its binding to heparin and hyaluronan. , 1992, The EMBO journal.
[20] R. Timpl,et al. Human alpha 3(VI) collagen gene. Characterization of exons coding for the amino-terminal globular domain and alternative splicing in normal and tumor cells. , 1991, The Journal of biological chemistry.
[21] R. Timpl,et al. Alternative splicing of the human alpha 2(VI) collagen gene generates multiple mRNA transcripts which predict three protein variants with distinct carboxyl termini. , 1990, The Journal of biological chemistry.
[22] M L Chu,et al. Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors. , 1990, The EMBO journal.
[23] N. Tachi,et al. Early-onset benign autosomal-dominant limb-girdle myopathy with contractures (Bethlem myopathy). , 1989, Pediatric neurology.
[24] R. Glanville,et al. Ultrastructure of type VI collagen in human skin and cartilage suggests an anchoring function for this filamentous network , 1988, The Journal of cell biology.
[25] R. Timpl,et al. Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen. , 1988, American journal of human genetics.
[26] R. Timpl,et al. Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones. , 1987, European journal of biochemistry.
[27] P. Chomczyński,et al. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. , 1987, Analytical biochemistry.
[28] J. Vermylen,et al. von Willebrand factor binds to native collagen VI primarily via its A 1 domain , 1997 .
[29] R. Mecham,et al. Extracellular matrix assembly and structure , 1994 .