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COL5A1 gene

Known as: collagen type V alpha 1, alpha 1 type V collagen, COL5A1 
National Institutes of Health

Related topics

Related topics

2 relations
COL15A1 geneCOL5A2 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Effect of COL5A1, GDF5, and PPARA Genes on a Movement Screen and Neuromuscular Performance in Adolescent Team Sport Athletes.
Stastny, P, Lehnert, M, De Ste Croix, M, Petr, M, Svoboda, Z, Maixnerova, E, Varekova, R, Botek, M, Petrek, M, Lenka, K, and Ci… 
2017
2017
The pro-α1(V) collagen gene (Col5a1) is coordinately regulated by miR-29b with core promoter in cultured cells
ABSTRACT Aims: Col5a1 encodes the α1 chain of type V collagen, a quantitatively minor fibrillar collagen that is critical for the… 
2016
2016
Human COL5A1 polymorphisms and quadriceps muscle–tendon mechanical stiffness in vivo
What is the central question of the study? Do COL5A1 gene variants, previously reported to have diminished transcript stability… 
2014
2014
Genomic Deletions of RXRA-COL5A1, FAM46A-IBTK, HS3ST3B1-PMP22, and GRIA4 in Familial Keratoconus Patients
2011
2011
Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene
I write to you regarding the paper by Longo et al. [1] ‘‘Bilateral consecutive rupture of the quadriceps tendon in a man with… 
1997
1997
Genetic linkage to the collagen α1 (V) gene (COL5A1) in two British Ehlers–Danlos syndrome families with variable type I and II phenotypes
To investigate the role of COL5A1 as a candidate gene for Ehlers–Danlos syndrome (EDS), we have carried out linkage studies in… 
Highly Cited
1996
Highly Cited
1996
A translocation interrupts the COL5A1 gene in a patient with Ehlers–Danlos syndrome and hypomelanosis of Ito
Ehlers-Danlos syndrome (EDS) is a genetically and pathogenetically heterogeneous group of disorders of which at least 11 types… 
1996
1996
A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).
Highly Cited
1995
Highly Cited
1995
Complete structural organization of the human alpha 1 (V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes.
Genes that encode the vertebrate fibrillar collagen types I-III have previously been shown to share a highly conserved intron… 
1992
1992
Mapping of the human COL5A1 gene to chromosome 9q34.3
SummaryA 353-bp region encoding for the NH2 terminus of the noncollagenic part of the αl(V) chain was amplified by the polymerase… 
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