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COL6A3 Protein Deficiency in Mice Leads to Muscle and Tendon Defects Similar to Human Collagen VI Congenital Muscular Dystrophy

The Journal of biological chemistry, 2013-05, Vol.288 (20), p.14320-14331

2013

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Tumor-specific expression and alternative splicing of the COL6A3 gene in pancreatic cancer

Surgery, 2011-08, Vol.150 (2), p.306-315

2011

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Muscle Interstitial Fibroblasts Are the Main Source of Collagen VI Synthesis in Skeletal Muscle: Implications for Congenital Muscular Dystrophy Types Ullrich and Bethlem

Journal of neuropathology and experimental neurology, 2008-02, Vol.67 (2), p.144-154

2008

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Ullrich Scleroatonic Muscular Dystrophy is Caused by Recessive Mutations in Collagen Type VI

Proceedings of the National Academy of Sciences - PNAS, 2001-06, Vol.98 (13), p.7516-7521

2001

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Forelimb contractures and abnormal tendon collagen fibrillogenesis in fibulin-4 null mice

Cell and tissue research, 2016-06, Vol.364 (3), p.637-646

2016

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New Molecular Mechanism for Ullrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 Gene Causes a Severe Phenotype

American journal of human genetics, 2003-08, Vol.73 (2), p.355-369

2003

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Fibulin-2 Is Dispensable for Mouse Development and Elastic Fiber Formation

Molecular and Cellular Biology, 2008-02, Vol.28 (3), p.1061-1067

2008

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Synthesis of hydrophobic fluorinated polyurethanes and their properties of resistance to cavitation and wear

Progress in organic coatings, 2017-03, Vol.104, p.11-19

2017

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Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of Three COL6A2 Mutations in Two Families with Ullrich Congenital Muscular Dystrophy

The Journal of biological chemistry, 2002-11, Vol.277 (46), p.43557-43564

2002

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A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16

The Journal of biological chemistry, 2014-04, Vol.289 (15), p.10293-10307

2014

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COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy

Annals of neurology, 2006-01, Vol.59 (1), p.190-195

2006

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Mouse Embryo Fibroblasts Lacking the Tumor Suppressor Menin Show Altered Expression of Extracellular Matrix Protein Genes

Molecular cancer research, 2007-10, Vol.5 (10), p.1041-1051

2007

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A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy

Human genetics, 2005-09, Vol.117 (5), p.460-466

2005

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Structure and Expression of Fibulin-2, a Novel Extracellular Matrix Protein with Multiple EGF-like Repeats and Consensus Motifs for Calcium Binding

The Journal of cell biology, 1993-12, Vol.123 (5), p.1269-1277

1993

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Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy: ROLE OF THE C2a SPLICE VARIANT

The Journal of biological chemistry, 2010-03, Vol.285 (13), p.10005-10015

2010

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Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy

Muscle & nerve, 2002-04, Vol.25 (4), p.513-519

2002

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Consolidation of High-Level Radioactive Wastes into Strontium Titanate by CS Method

Materials science forum, 2012-01, Vol.704-705, p.625-630

2012

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Cloning and Chromosomal Location of Human α1(XVI) Collagen

Proceedings of the National Academy of Sciences - PNAS, 1992-07, Vol.89 (14), p.6565-6569

1992

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Examination of primary aromatic amines content in polylactic acid straws and migration into food simulants using SERS with LC-MS

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy, 2025-01, Vol.324, p.124997, Article 124997

2025

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Missense Mutation in a Von Willebrand Factor Type a Domain of the α3(VI) Collagen Gene (COL6A3) in a Family with Bethlem Myopathy

Human molecular genetics, 1998-05, Vol.7 (5), p.807-812

1998

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A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen α3(VI) chain interferes with protein folding

The FASEB journal, 2000-04, Vol.14 (5), p.761-768

2000

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Fibulin-2 (FBLN2): Human cDNA Sequence, mRNA Expression, and Mapping of the Gene on Human and Mouse Chromosomes

Genomics (San Diego, Calif.), 1994-07, Vol.22 (2), p.425-430

1994

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Sequence of extracellular mouse protein BM‐90/fibulin and its calcium‐dependent binding to other basement‐membrane ligands

European journal of biochemistry, 1993-08, Vol.215 (3), p.733-740

1993

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Recombinant expression and structural and binding properties of α1(VI) and α2(VI) chains of human collagen type VI

European journal of biochemistry, 1994-04, Vol.221 (1), p.177-187

1994

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Influences of Tibetan Plateau uplift on provenance evolution of the paleo-Pearl River

Acta geochimica, 2015-06, Vol.34 (2), p.208-218

2015

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COL6A3 Protein Deficiency in Mice Leads to Muscle and Tendon Defects Similar to Human Collagen VI Congenital Muscular Dystrophy

Tumor-specific expression and alternative splicing of the COL6A3 gene in pancreatic cancer

Muscle Interstitial Fibroblasts Are the Main Source of Collagen VI Synthesis in Skeletal Muscle: Implications for Congenital Muscular Dystrophy Types Ullrich and Bethlem

Ullrich Scleroatonic Muscular Dystrophy is Caused by Recessive Mutations in Collagen Type VI

Forelimb contractures and abnormal tendon collagen fibrillogenesis in fibulin-4 null mice

New Molecular Mechanism for Ullrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 Gene Causes a Severe Phenotype

Fibulin-2 Is Dispensable for Mouse Development and Elastic Fiber Formation

Synthesis of hydrophobic fluorinated polyurethanes and their properties of resistance to cavitation and wear

Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of Three COL6A2 Mutations in Two Families with Ullrich Congenital Muscular Dystrophy

A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy

Mouse Embryo Fibroblasts Lacking the Tumor Suppressor Menin Show Altered Expression of Extracellular Matrix Protein Genes

A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy

Structure and Expression of Fibulin-2, a Novel Extracellular Matrix Protein with Multiple EGF-like Repeats and Consensus Motifs for Calcium Binding

Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy: ROLE OF THE C2a SPLICE VARIANT

Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy

Consolidation of High-Level Radioactive Wastes into Strontium Titanate by CS Method

Cloning and Chromosomal Location of Human α1(XVI) Collagen

Examination of primary aromatic amines content in polylactic acid straws and migration into food simulants using SERS with LC-MS

Missense Mutation in a Von Willebrand Factor Type a Domain of the α3(VI) Collagen Gene (COL6A3) in a Family with Bethlem Myopathy

A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen α3(VI) chain interferes with protein folding

Fibulin-2 (FBLN2): Human cDNA Sequence, mRNA Expression, and Mapping of the Gene on Human and Mouse Chromosomes

Sequence of extracellular mouse protein BM‐90/fibulin and its calcium‐dependent binding to other basement‐membrane ligands

Recombinant expression and structural and binding properties of α1(VI) and α2(VI) chains of human collagen type VI

Influences of Tibetan Plateau uplift on provenance evolution of the paleo-Pearl River

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