Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases
H Kuivaniemi, G Tromp - Gene, 2019 - Elsevier
Abstract Collagen alpha-1 (III) chain, also known as the alpha 1 chain of type III collagen, is
a protein that in humans is encoded by the COL3A1 gene. Three alpha 1 chains are …
a protein that in humans is encoded by the COL3A1 gene. Three alpha 1 chains are …
Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development
X Liu, H Wu, M Byrne, S Krane… - Proceedings of the …, 1997 - National Acad Sciences
Type III collagen is a fibrillar forming collagen comprising three α1 (III) chains and is
expressed in early embryos and throughout embryogenesis. In the adult, type III collagen is …
expressed in early embryos and throughout embryogenesis. In the adult, type III collagen is …
Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model
S D'hondt, B Guillemyn, D Syx, S Symoens… - Matrix Biology, 2018 - Elsevier
Type III collagen is a major fibrillar collagen consisting of three identical α 1 (III)-chains that
is particularly present in tissues exhibiting elastic properties, such as the skin and the arterial …
is particularly present in tissues exhibiting elastic properties, such as the skin and the arterial …
[PDF][PDF] Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos …
U Schwarze, WI Schievink, E Petty, MR Jaff… - The American Journal of …, 2001 - cell.com
Mutations in the COL3A1 gene that encodes the chains of type III procollagen result in the
vascular form of Ehlers-Danlos syndrome (EDS), EDS type IV, if they alter the sequence in …
vascular form of Ehlers-Danlos syndrome (EDS), EDS type IV, if they alter the sequence in …
Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.
A De Paepe, L Nuytinck, I Hausser… - American journal of …, 1997 - ncbi.nlm.nih.gov
Abstract The Ehlers-Danlos syndrome (EDS) is a heterogeneous connective-tissue disorder
of which at least nine subtypes are recognized. Considerable clinical overlap exists between …
of which at least nine subtypes are recognized. Considerable clinical overlap exists between …
[PDF][PDF] COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS
RJ Wenstrup, JB Florer, MC Willing, C Giunta… - The American Journal of …, 2000 - cell.com
We have identified haploinsufficiency of the COL5A1 gene that encodes the proα1 (V) chain
of type V collagen in the classical form of the Ehlers-Danlos syndrome (EDS), a heritable …
of type V collagen in the classical form of the Ehlers-Danlos syndrome (EDS), a heritable …
A Splice-Junction Mutation in the Region of COL5A1 that Codes for the Carboxyl Propeptide of Proα1(V) Chains Results in the Gravis Form of the Ehlers-Danlos …
RJ Wenstrup, GT Langland, MC Willing… - Human molecular …, 1996 - academic.oup.com
Type V collagen is a constituent of type I collagen-rich fibrils in many connective tissues and
is a regulator of fibril diameter. In tissues, type V collagen is a heterotrimer with the …
is a regulator of fibril diameter. In tissues, type V collagen is a heterotrimer with the …
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.
AJ Richards, S Martin, AC Nicholls… - Journal of medical …, 1998 - jmg.bmj.com
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders.
Recently mutations have been found in the genes for type V collagen in a small number of …
Recently mutations have been found in the genes for type V collagen in a small number of …
Type III collagen regulates osteoblastogenesis and the quantity of trabecular bone
SW Volk, SR Shah, AJ Cohen, Y Wang… - Calcified tissue …, 2014 - Springer
Abstract Type III collagen (Col3), a fibril-forming collagen, is a major extracellular matrix
component in a variety of internal organs and skin. It is also expressed at high levels during …
component in a variety of internal organs and skin. It is also expressed at high levels during …
Molecular genetics of the COL2A1-related disorders
H Deng, X Huang, L Yuan - Mutation Research/Reviews in Mutation …, 2016 - Elsevier
Type II collagen, comprised of three identical alpha-1 (II) chains, is the major collagen
synthesized by chondrocytes, and is found in articular cartilage, vitreous humour, inner ear …
synthesized by chondrocytes, and is found in articular cartilage, vitreous humour, inner ear …