Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. (Q37685735)

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3 March 2020

title

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

1 reference

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3 March 2020

1 reference

7

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3 March 2020

Guido Veit

10

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3 March 2020

Markus Meier

11

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3 March 2020

Joerg Stetefeld

12

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3 March 2020

15

Nicol C Voermans

1 reference

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3 March 2020

author name string

Yaqun Zou

1

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3 March 2020

Daniela Zwolanek

2

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3 March 2020

Yayoi Izu

3

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3 March 2020

Shreya Gandhy

4

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3 March 2020

Gudrun Schreiber

5

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3 March 2020

Knut Brockmann

6

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3 March 2020

Zuozhen Tian

8

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3 March 2020

Ying Hu

9

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3 March 2020

Debbie Hicks

13

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3 March 2020

David E Birk

16

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3 March 2020

Elisabeth R Barton

17

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3 March 2020

Manuel Koch

18

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3 March 2020

Carsten G Bönnemann

19

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3 March 2020

Volker Straub

14

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3 March 2020

publication date

11 December 2013

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3 March 2020

published in

Human Molecular Genetics

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3 March 2020

volume

23

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3 March 2020

issue

9

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3 March 2020

page(s)

2339-2352

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COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy

3 March 2020

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Collagen types XII and XIV are present in basement membrane zones during human embryonic development

23 August 2017

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Deficiency of tenascin-X causes a decrease in the level of expression of type VI collagen

23 August 2017

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Shear stress-induced collagen XII expression is associated with atherogenesis

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23 August 2017

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23 August 2017

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A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

23 August 2017

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Eccentric muscle damage: mechanisms of early reduction of force

23 August 2017

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23 August 2017

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Structural basis of collagen recognition by integrin alpha2beta1

23 August 2017

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23 August 2017

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Dystrophin protects the sarcolemma from stresses developed during muscle contraction

23 August 2017

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Tissue-specific expression of the fibril-associated collagens XII and XIV

23 August 2017

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

23 August 2017

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Large and small splice variants of collagen XII: differential expression and ligand binding.

23 August 2017

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Extracellular compartments in tendon morphogenesis: collagen fibril, bundle, and macroaggregate formation

23 August 2017

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Immunoidentification of type XII collagen in embryonic tissues

23 August 2017

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Differential expression of type XII collagen in developing chicken metatarsal tendons

23 August 2017

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Mechanical strain increases expression of type XII collagen in murine osteoblastic MC3T3-E1 cells

6 September 2017

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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

14 September 2017

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14 September 2017

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14 September 2017

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Dysfunctional tendon collagen fibrillogenesis in collagen VI null mice

28 September 2017

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

23 June 2018

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Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

23 June 2018

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Compound heterozygous mutations of the TNXB gene cause primary myopathy.

1 September 2018

1 reference

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Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy

1 September 2018

1 reference

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Neuromuscular properties of the thigh muscles in patients with Ehlers-Danlos syndrome.

1 September 2018

1 reference

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

1 September 2018

1 reference

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

1 September 2018

1 reference

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

1 September 2018

1 reference

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Predominant fiber atrophy and fiber type disproportion in early ullrich disease.

1 September 2018

1 reference

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Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.

1 September 2018

1 reference

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Structural requirements for fibromodulin binding to collagen and the control of type I collagen fibrillogenesis--critical roles for disulphide bonding and the C-terminal region.

1 September 2018

1 reference

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Ligand binding to integrin alphaIIbbeta3 is dependent on a MIDAS-like domain in the beta3 subunit

1 September 2018

1 reference

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Primary structure of the long and short splice variants of mouse collagen XII and their tissue-specific expression during embryonic development

1 September 2018

1 reference

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Type XII and XIV collagens mediate interactions between banded collagen fibers in vitro and may modulate extracellular matrix deformability.

1 September 2018

1 reference

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Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDT627

Eccentric contractions lead to myofibrillar dysfunction in muscular dystrophy

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDT627

Abnormal distribution of fiber types in the slow-twitch soleus muscle of the C57BL/6J dy2J/dy2J dystrophic mouse during postnatal development

21 January 2018

1 reference

12 December 2020

Tissue-specific expression of type XII collagen during mouse embryonic development

1 reference

12 December 2020

Muscle unloading induces slow to fast transitions in myofibrillar but not mitochondrial properties. Relevance to skeletal muscle abnormalities in heart failure

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization of the interactions of type XII collagen with two small proteoglycans from fetal bovine tendon, decorin and fibromodulin

1 reference

12 December 2020

Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies

1 reference

12 December 2020

Fiber-type proportions in mammalian soleus muscle during postnatal development

1 reference

12 December 2020

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

1 reference

12 December 2020

Histological parameters for the quantitative assessment of muscular dystrophy in the mdx-mouse

1 reference

12 December 2020

Collagen XII interacts with avian tenascin-X through its NC3 domain

1 reference

12 December 2020

Changes in fiber composition of soleus muscle during rat hindlimb suspension

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDT627

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24334604%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24334604%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

PubMed publication ID

24334604

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24334604%20AND%20SRC:MED&resulttype=core&format=json