Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

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

(2013) Te-Cheng Pan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy

(2013) T. Yonekawa et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Compound heterozygous mutations of the TNXB gene cause primary myopathy

(2013) Isabelle Pénisson-Besnier et al.   NEUROMUSCULAR DISORDERS

Collagen XII and XIV, New Partners of Cartilage Oligomeric Matrix Protein in the Skin Extracellular Matrix Suprastructure

(2012) Pallavi Agarwal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neuromuscular properties of the thigh muscles in patients with ehlers-danlos syndrome

(2012) Karin H.L. Gerrits et al.   MUSCLE & NERVE

Rescue of Dystrophic Skeletal Muscle by PGC-1α Involves a Fast to Slow Fiber Type Shift in the mdx Mouse

(2012) Joshua T. Selsby et al.   PLoS One

Type XII collagen regulates osteoblast polarity and communication during bone formation

(2011) Yayoi Izu et al.   JOURNAL OF CELL BIOLOGY

SWIFT MODELLER v2.0: a platform-independent GUI for homology modeling

(2011) Abhinav Mathur et al.   JOURNAL OF MOLECULAR MODELING

The collagen VI-related myopathies: muscle meets its matrix

(2011) Carsten G. Bönnemann   Nature Reviews Neurology

ColVI myopathies: where do we stand, where do we go?

(2011) Valérie Allamand et al.   Skeletal Muscle

Leupeptin-based inhibitors do not improve the mdx phenotype

(2010) Joshua Selsby et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

The initiation of embryonic-like collagen fibrillogenesis by adult human tendon fibroblasts when cultured under tension

(2010) Monika L. Bayer et al.   BIOMATERIALS

Muscle characteristics and altered myofascial force transmission in tenascin-X-deficient mice, a mouse model of Ehlers-Danlos syndrome

(2010) Peter A. Huijing et al.   JOURNAL OF APPLIED PHYSIOLOGY

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14

(2010) H. Van Esch et al.   JOURNAL OF MEDICAL GENETICS

Dysfunctional tendon collagen fibrillogenesis in collagen VI null mice

(2010) Yayoi Izu et al.   MATRIX BIOLOGY

Distinct genetic regions modify specific muscle groups in muscular dystrophy

(2010) Kayleigh A. Swaggart et al.   PHYSIOLOGICAL GENOMICS

Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers-Danlos syndrome

(2009) N.C. Voermans et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Eccentric contractions lead to myofibrillar dysfunction in muscular dystrophy

(2009) Bert Blaauw et al.   JOURNAL OF APPLIED PHYSIOLOGY

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

(2009) Yaqun Zou et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Natural history of Ullrich congenital muscular dystrophy

(2009) A. Nadeau et al.   NEUROLOGY

Mechanical Strain Increases Expression of Type XII Collagen in Murine Osteoblastic MC3T3-E1 Cells

(2008) Katsuhiko Arai et al.   CELL STRUCTURE AND FUNCTION

An enhancer required for transcription of the Col6a1 gene in muscle connective tissue is induced by signals released from muscle cells

(2008) Paola Braghetta et al.   EXPERIMENTAL CELL RESEARCH

Zebrafish collagen XII is present in embryonic connective tissue sheaths (fascia) and basement membranes

(2008) Hannah L. Bader et al.   MATRIX BIOLOGY

Predominant fiber atrophy and fiber type disproportion in early ullrich disease

(2008) Joachim Schessl et al.   MUSCLE & NERVE

Analyzing real-time PCR data by the comparative CT method

(2008) Thomas D Schmittgen et al.   Nature Protocols

Clinical and molecular overlap between myopathies and inherited connective tissue diseases

(2008) N.C. Voermans et al.   NEUROMUSCULAR DISORDERS