Citations for
1BCS, COL5A1, ZNF469
Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.
Hoehn R, Zeller T, Verhoeven VJ, Grus F, Adler M, Wolfs RC, Uitterlinden AG, Castagne R, Schillert A, Klaver CC, Pfeiffer N, Mirshahi A.
Hum Genet 131(11):1783-93. doi: 10.1007/s00439-012-1201-3. Epub 2012 Jul 20. 2012
Structural abnormalities of the cornea and lid resulting from collagen V mutations.
Segev F, Heon E, Cole WG, Wenstrup RJ, Young F, Slomovic AR, Rootman DS, Whitaker-Menezes D, Chervoneva I, Birk DE.
Invest Ophthalmol Vis Sci 47(2):565-73. 2006
The COL5A1 gene and Achilles tendon pathology.
Mokone GG, Schwellnus MP, Noakes TD, Collins M.
Scand J Med Sci Sports 16(1):19-26. 2006
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.
Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A.
Hum Mutat 25(1):28-37. 2005
Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin.
Zoppi N, Gardella R, De Paepe A, Barlati S, Colombi M.
J Biol Chem 279(18):18157-68. Epub 2004 Feb 17. 2004
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.
Giunta C, Nuytinck L, Raghunath M, Hausser I, De Paepe A, Steinmann B.
Am J Med Genet 109(4):284-90. 2002
Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I.
Takahara K, Schwarze U, Imamura Y, Hoffman GG, Toriello H, Smith LT, Byers PH, Greenspan DS.
Am J Hum Genet 71(3):451-65. 2002
Biosynthetic processing of the pro-alpha 1(V)2pro-alpha 2(V) collagen heterotrimer by bone morphogenetic protein-1 and furin-like proprotein convertases.
Unsold C, Pappano WN, Imamura Y, Steiglitz BM, Greenspan DS.
J Biol Chem 277(7):5596-602. Epub 2001 Dec 12. 2002
COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II.
Bouma P, Cabral WA, Cole WG, Marini JC.
J Biol Chem 276(16):13356-64. 2001
Compound heterozygosity for a disease-causing G1489D and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of ehlers-danlos syndrome: An explanation of intrafamilial variability?
Giunta C, Steinmann B.
Am J Med Genet 90(1):72-9 2000
COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS.
Wenstrup RJ, Florer JB, Willing MC, Giunta C, Steinmann B, Young F, Susic M, Cole WG.
Am J Hum Genet 66(6):1766-1776. 2000
12COL5A1, EDS2
A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families.
Burrows NP, Nicholls AC, Richards AJ, Luccarini C, Harrison JB, Yates JR, Pope FM.
Am J Hum Genet 63 : 390-398. 1998
Bone morphogenetic protein-1 processes the NH2-terminal propeptide, and a furin-like proprotein convertase processes the COOH-terminal propeptide of pro-alpha1(V) collagen.
Imamura Y, Steiglitz BM, Greenspan DS.
J Biol Chem 273 : 27511-27517. 1998
Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.
De Paepe A, et al.
Am J Hum Genet 60 : 547-554. 1997
15COL5A1, EDS2
Aberrant splicing due to an intronic point mutation in a lariat branchpoint sequence in COL5A1 causes Ehlers-Danlos syndrome type II in two British families. (abstr)
Burrows NP, et al.
Am J Hum Genet 61 : A327. 1997
A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.
Toriello HV, et al.
Nat Genet 13 : 361-365. 1996
A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of proalpha1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).
Wenstrup RJ, et al.
Hum Mol Genet 5 : 1733-1736. 1996
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
Nicholls AC, et al.
J Med Genet 33 : 940-946. 1996
Complete structural organization of the human alpha 1 (V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes.
Takahara K, Hoffman GG, Greenspan DS.
Genomics 29(3):588-97. 1995
COL5A1 : fine genetic mapping and exclusion as candidate gene in families with Nail-Patella syndrome, tuberous sclerosis 1, Hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II.
Greenspan DS, et al.
Genomics 25 : 737-739. 1995
A new biallelic DNA polymorphism of the human COL5A1 gene.
Cappa F, et al.
Hum Genet 95 : 599-600. 1995
BstUI and DpnII RFLPs at the COL5A1 gene.
Greenspan DS, et al.
Hum Mol Genet 3 : 385. 1994
Human collagen gene COL5A1 maps to the q34.2-q34.3 region of chromosome 9, near the locus for nail-patella syndrome.
Greenspan DS, et al.
Genomics 12 : 836-837. 1992
Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21-q22.
Huebner K, et al.
Genomics 14 : 220-224. 1992
Mapping of the human COL5A1 gene to chromosome 9q34.3.
Caridi G, et al.
Hum Genet 90 : 174-176. 1992
The pro-alpha1(V) collagen chain. Complete primary structure, distribution of expression, and comparison with the pro-alpha1(XI) collagen chain.
Greenspan DS, et al.
J Biol Chem 266 : 24727-24733. 1991