Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q37685735

about

Tendon development and musculoskeletal assembly: emerging roles for the extracellular matrix Regulation of corneal stroma extracellular matrix assembly Collagen XII: Protecting bone and muscle integrity by organizing collagen fibrils Diagnostic approach to the congenital muscular dystrophies.Collagen content does not alter the passive mechanical properties of fibrotic skeletal muscle in mdx mice.Tenascin-X: beyond the architectural function Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability Collagen XII Contributes to Epicardial and Connective Tissues in the Zebrafish Heart during Ontogenesis and Regeneration.A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives.The neuromuscular differential diagnosis of joint hypermobility.The Ehlers-Danlos syndromes, rare types.Connective tissue regeneration in skeletal muscle after eccentric contraction-induced injury.Collagens VI and XII form complexes mediating osteoblast interactions during osteogenesis.Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review.Heterozygous HTRA1 missense mutation in CADASIL-like family disease.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.Composition and adaptation of human myotendinous junction and neighboring muscle fibers to heavy resistance training.

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

http://www.wikidata.org/entity/Q37685735

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 11 December 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Recessive and dominant mutatio ...... p syndrome in humans and mice.

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Recessive and dominant mutatio ...... p syndrome in humans and mice.

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Recessive and dominant mutatio ...... p syndrome in humans and mice.

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Recessive and dominant mutatio ...... p syndrome in humans and mice.

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Recessive and dominant mutatio ...... p syndrome in humans and mice.

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Recessive and dominant mutatio ...... p syndrome in humans and mice.

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Human Molecular Genetics

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Recessive and dominant mutatio ...... ap syndrome in humans and mice

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Carsten G Bönnemann

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Daniela Zwolanek

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David E Birk

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Debbie Hicks

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Elisabeth R Barton

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Gudrun Schreiber

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Knut Brockmann

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Manuel Koch

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Nicol C Voermans

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Shreya Gandhy

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SWISS-MODEL: An automated protein homology-modeling server

Immunoidentification of type XII collagen in embryonic tissues

Crystallography & NMR System: A New Software Suite for Macromolecular Structure Determination

Rescue of dystrophic skeletal muscle by PGC-1α involves a fast to slow fiber type shift in the mdx mouse

Structural basis of collagen recognition by integrin alpha2beta1

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

GROMACS: fast, flexible, and free

Analyzing real-time PCR data by the comparative C(T) method

Shear stress-induced collagen XII expression is associated with atherogenesis

Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI

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2339-2352

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scholarly article

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10.1093/HMG/DDT627

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9

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23

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Joerg Stetefeld

Marcella Devoto

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2013-12-11T00:00:00Z

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