O.1 Collagen XII As A New Disease Gene For Bethlem-like myopathy
Collagen XII as a new disease gene for Bethlem-like myopathy D. Hicks 1, G. Torabi Farsani1, S. Laval , J. Collins2, E. Martoni3, A. Shah1, Y. Zou 4, M. Koch5, C. Bonnemann , H. Lochmuller1, K. Bushby 1, M. Roberts6, V. Straub ... Fetch This Document
SUPERGROUP COLLAGEN GENE LOCATION PROTEIN COMPOSITION TISSUE ...
SUPERGROUP COLLAGEN TYPE GENE LOCATION PROTEIN COMPOSITION TISSUE DISEASE Fibrillar I COL1A1 17q21.3-q22.1 2 chains Skin, tendon, bone Osteogenesis imperfecta; Ehlers- myopathy . XII COL12A1 6q12-q13 2 transcripts: 1 is full-length; ... Retrieve Here
Recessive And Dominant Mutations In COL12A1 Cause A Novel EDS ...
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in human and mice Yaqun Zou1, Daniela Zwolanek2, Collagen XII is a member of the family of fibril-associated collagens with interrupted triple hel- ... Access Doc
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Collagen XII as a new disease gene for Bethlem myopathy. D. Hicks1, G. Torabi Farsani1, S. Laval1, J. Collins2, E. Martoni3, A. Shah1, M. Roberts4, Y. Zou5, M. Koch6, C.G Bönnemann5, H. Lochmüller1, K. Bushby1, V. Straub1. ... Get Document
Laminin, Beta 1 - Wikipedia, The Free Encyclopedia
Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 Collagen: Fibril forming: type I. COL1A1; COL1A2; type II ; type III; type V. COL5A1; COL5A2; COL5A3; COL24A1; COL26A1; Other: FACIT: type IX. COL9A1; COL9A2; COL9A3; type XII ; COL14A1; COL16A1 ... Read Article
The Entire Zyrion Team Has Joined Kaseya, - YouTube
The entire Zyrion team has joined Kaseya, tv7healthplanet. Subscribe Subscribed Unsubscribe 5,107 5K. Loading myopathy strep throat symptoms hypnotherapy NEC XII Coop Cup 1 Losers FinalsTeam 5 vs Team 3 - Duration: 15:53. ... View Video
The Limb Girdle Muscular Dystrophies
The Limb Girdle Muscular Dystrophies Matthew P. Wicklund, MD, FAAN Penn State Health . • Miyoshi myopathy (gastrosoleus complex) • Distal anterior compartment myopathy • Collagen XII –Similar features . ... Read Content
Review The Role Of Structural Genes In The Pathogenesis Of ...
Type XII Type XIV Proteoglycans Aggrecan Versican Link protein Biglycan (DS-PGI) Decorin (DS-PGII) Epiphycan (DS-PGIII) Fibromodulin Lumican 120250 Collagen, type VI α3 COL6A3 Bethlem myopathy 120210 Collagen, type IX α1 COL9A1 Epiphyseal dysplasia, multiple, type 1 ... Access Document
Collagen Structure And Stability - Annual Reviews
Collagen triple helix after proteolysis of collagen propeptides Contents XII FACIT α1[XII] www.annualreviews.org • Collagen Structure and Stability 957. ANRV378-BI78-32 ARI 5 May 2009 15:11 Franzke C-W, Bruckner P, ... Content Retrieval
Collagen Structure And Stability - Biochem.wisc.edu
Properties of natural collagen fibrils are now accessible using chemical synthesis and self-assembly. A rapidly emerging understanding of the mechanical and structural properties of native collagen fibrils will guide ... Get Document
Early Onset Collagen VI Myopathies: Genetic And Clinical ...
Early Onset Collagen VI Myopathies: Genetic and Clinical Correlations Laura Brin˜as, PhD,1,2 Pascale Richard, PhD,1,2,3 Susana Quijano-Roy, Paris XII University, Cre´teil, sclerosis myopathy is a collagen VI disorder. Neurology 2008;71: 1245–1253. ... Read Here
The Collagen Superfamily - Springer
The Collagen Superfamily Sylvie Ricard-Blum1( ) 2.2.1 Recent Advances on Collagens IX,XII and XIV . . . . . . . . . . . . . . . . . 53 4.2 Bethlem Myopathy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 72 ... View Doc
Types Of Collagen And Associated Disorders
Types of Collagen and Associated Disorders Ulrich myopathy, Bethlem myopathy, Atopic dermatitis[41] VII Forms anchoring fibrils in dermoepidermal junctions COL7A1 XII FACIT collagen, interacts with type I containing fibrils, ... Fetch This Document
Genetic Diseases Of The Extracellular Matrix: More Than Just ...
Molecular biology of the extracellular matrix has COL2A1 12q13-q14 Cartilage, vitreous humor (See above for collagen II) Collagen XII COL12A1 6 Tissues containing Bolhuis PA (1996) Type VI collagen mutations in Bethlem myopathy, an autosomal dominant my-opathy with contractures. Nat ... View Document
Recessive And Dominant Mutations In COL12A1 Cause A Novel EDS ...
Cause a novel EDS/myopathy overlap syndrome in humans and mice Yaqun Zou1, Daniela Zwolanek2 homozygous recessive loss of function mutation and a de novo dominant mutation in collagen XII muscle biopsy was consistent with a myopathy with variability 2340 Human Molecular Genetics ... Retrieve Document
O.2 Collagen Type XII: A New Congenital Matrix And Muscle Disease
Collagen XII as a new disease gene for Bethlem-like myopathy D. Hicks 1, G. Torabi Farsani1, S. Laval , J. Collins2, E. Martoni3, Collagen type XII: A new congenital matrix and muscle disease Y. Zou 1, D. Zwolanek2,Y.Hu, G. Schreiber3, K. Brockmann4, ... View Doc
Inherited Connective Tissue Disorders Of Collagens: Lessons ...
Syndrome, Bethlem myopathy, Ulrich congenital muscular dystrophy, Fuchs' endothelial dystrophy, Knobloch syndrome) that affect diffe rent tissues and organs, FACIT collagen XII. Most, if not all, collagen types are recognized by specific cell receptors, ... Retrieve Here
Collagens And collagen-related Diseases
IX, XII, XIV, XVI and XIX); (C) collagens that form Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion. J Biol Cbem 1999; 274: 21817-22. 116. ... View This Document
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