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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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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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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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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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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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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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Initiation of skin basement membrane formation at the epidermo-dermal interface involves assembly of laminins through binding to cell membrane receptors

Journal of cell science, 1998-07, Vol.111 ( Pt 14) (14), p.1929-1940

1998

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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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Zinc finger protein Zac1 is expressed in chondrogenic sites of the mouse

Developmental dynamics, 2004-02, Vol.229 (2), p.340-348

2004

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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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Extracellular Matrix Protein Fibulin-2 Is Expressed in the Embryonic Endocardial Cushion Tissue and Is a Prominent Component of Valves in Adult Heart

Developmental biology, 1995, Vol.167 (1), p.18-26

1995

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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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The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor

Human molecular genetics, 1992-10, Vol.1 (7), p.475-481

1992

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Binding of Mouse and Human Fibulin-2 to Extracellular Matrix Ligands

Journal of molecular biology, 1995-12, Vol.254 (5), p.892-899

1995

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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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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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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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There Is Temporal and Spatial Expression of α1 (IV), α2 (IV), α5 (IV), α6 (IV) Collagen Chains and β1 Integrins During the Development of the Basal Lamina in an “In Vitro” Skin Model

Journal of investigative dermatology, 1997-10, Vol.109 (4), p.527-533

1997

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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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Alternative splicing of transcripts for the alpha3 chain of mouse collagen VI: identification of an abundant isoform lacking domains N7–N10 in mouse and human

Matrix biology, 2002, Vol.21 (3), p.227-241

2002

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A Mouse Model for Dominant Collagen VI Disorders

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

2014

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Skin Fibroblasts Are the Only Source of Nidogen During Early Basal Lamina Formation In Vitro

Journal of investigative dermatology, 1995-10, Vol.105 (4), p.597-601

1995

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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

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

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

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy

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

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

Initiation of skin basement membrane formation at the epidermo-dermal interface involves assembly of laminins through binding to cell membrane receptors

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

Zinc finger protein Zac1 is expressed in chondrogenic sites of the mouse

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

Extracellular Matrix Protein Fibulin-2 Is Expressed in the Embryonic Endocardial Cushion Tissue and Is a Prominent Component of Valves in Adult Heart

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

The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor

Binding of Mouse and Human Fibulin-2 to Extracellular Matrix Ligands

Cloning and Chromosomal Location of Human α1(XVI) Collagen

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

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

There Is Temporal and Spatial Expression of α1 (IV), α2 (IV), α5 (IV), α6 (IV) Collagen Chains and β1 Integrins During the Development of the Basal Lamina in an “In Vitro” Skin Model

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

Alternative splicing of transcripts for the alpha3 chain of mouse collagen VI: identification of an abundant isoform lacking domains N7–N10 in mouse and human

A Mouse Model for Dominant Collagen VI Disorders

Skin Fibroblasts Are the Only Source of Nidogen During Early Basal Lamina Formation In Vitro

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