| 1 | BCS, COL5A1, ZNF469
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| Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.
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| Hoehn R, Zeller T, Verhoeven VJ, Grus F, Adler M, Wolfs RC, Uitterlinden AG, Castagne R, Schillert A, Klaver CC, Pfeiffer N, Mirshahi A.
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| Hum Genet 131(11):1783-93. doi: 10.1007/s00439-012-1201-3. Epub 2012 Jul 20.
2012
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| 2 | COL5A1, COL5A2
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| Structural abnormalities of the cornea and lid resulting from collagen V mutations.
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| Segev F, Heon E, Cole WG, Wenstrup RJ, Young F, Slomovic AR, Rootman DS, Whitaker-Menezes D, Chervoneva I, Birk DE.
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| Invest Ophthalmol Vis Sci 47(2):565-73. 2006
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| 3 | COL5A1
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| The COL5A1 gene and Achilles tendon pathology.
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| Mokone GG, Schwellnus MP, Noakes TD, Collins M.
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| Scand J Med Sci Sports 16(1):19-26. 2006
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| 4 | COL5A1,COL5A2,EDS1A,EDS2
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| The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.
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| Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A.
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| Hum Mutat 25(1):28-37. 2005
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| 5 | COL3A1, COL5A1
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| 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.
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| Zoppi N, Gardella R, De Paepe A, Barlati S, Colombi M.
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| J Biol Chem 279(18):18157-68. Epub 2004 Feb 17. 2004
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| 6 | COL5A1, EDS2
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| Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.
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| Giunta C, Nuytinck L, Raghunath M, Hausser I, De Paepe A, Steinmann B.
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| Am J Med Genet 109(4):284-90. 2002
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| 7 | COL5A1, EDS1A
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| 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.
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| Takahara K, Schwarze U, Imamura Y, Hoffman GG, Toriello H, Smith LT, Byers PH, Greenspan DS.
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| Am J Hum Genet 71(3):451-65. 2002
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| 8 | COL5A2, COL5A1, COL6A1
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| Biosynthetic processing of the pro-alpha 1(V)2pro-alpha 2(V) collagen heterotrimer by bone morphogenetic protein-1 and furin-like proprotein convertases.
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| Unsold C, Pappano WN, Imamura Y, Steiglitz BM, Greenspan DS.
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| J Biol Chem 277(7):5596-602. Epub 2001 Dec 12. 2002
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| 9 | COL5A1, EDS2
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| 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.
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| Bouma P, Cabral WA, Cole WG, Marini JC.
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| J Biol Chem 276(16):13356-64. 2001
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| 10 | COL5A1, EDS1A
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| 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?
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| Giunta C, Steinmann B.
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| Am J Med Genet 90(1):72-9 2000
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| 11 | COL5A1, EDS1A, EDS2
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| COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS.
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| Wenstrup RJ, Florer JB, Willing MC, Giunta C, Steinmann B, Young F, Susic M, Cole WG.
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| Am J Hum Genet 66(6):1766-1776. 2000
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| 12 | COL5A1, EDS2
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| 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.
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| Burrows NP, Nicholls AC, Richards AJ, Luccarini C, Harrison JB, Yates JR, Pope FM.
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| Am J Hum Genet 63 : 390-398. 1998
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| 13 | BMP1, COL5A1, LOX, FURIN
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| 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.
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| Imamura Y, Steiglitz BM, Greenspan DS.
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| J Biol Chem 273 : 27511-27517. 1998
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| 14 | COL5A1, EDS1A, EDS2
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| Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.
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| De Paepe A, et al.
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| Am J Hum Genet 60 : 547-554. 1997
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| 15 | COL5A1, EDS2
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| 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)
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| Burrows NP, et al.
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| Am J Hum Genet 61 : A327. 1997
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| 16 | COL5A1, EDS1A
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| A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.
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| Toriello HV, et al.
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| Nat Genet 13 : 361-365. 1996
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| 17 | COL5A1, EDS1A
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| 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).
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| Wenstrup RJ, et al.
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| Hum Mol Genet 5 : 1733-1736. 1996
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| 18 | COL5A1, EDS1A, EDS2
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| An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
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| Nicholls AC, et al.
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| J Med Genet 33 : 940-946. 1996
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| 19 | COL5A1
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| Complete structural organization of the human alpha 1 (V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes.
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| Takahara K, Hoffman GG, Greenspan DS.
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| Genomics 29(3):588-97. 1995
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| 20 | COL5A1
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| 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.
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| Greenspan DS, et al.
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| Genomics 25 : 737-739. 1995
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| 21 | COL5A1
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| A new biallelic DNA polymorphism of the human COL5A1 gene.
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| Cappa F, et al.
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| Hum Genet 95 : 599-600. 1995
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| 22 | COL5A1
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| BstUI and DpnII RFLPs at the COL5A1 gene.
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| Greenspan DS, et al.
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| Hum Mol Genet 3 : 385. 1994
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| 23 | COL5A1
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| Human collagen gene COL5A1 maps to the q34.2-q34.3 region of chromosome 9, near the locus for nail-patella syndrome.
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| Greenspan DS, et al.
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| Genomics 12 : 836-837. 1992
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| 24 | COL5A1
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| Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21-q22.
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| Huebner K, et al.
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| Genomics 14 : 220-224. 1992
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| 25 | COL5A1
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| Mapping of the human COL5A1 gene to chromosome 9q34.3.
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| Caridi G, et al.
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| Hum Genet 90 : 174-176. 1992
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| 26 | COL5A1
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| The pro-alpha1(V) collagen chain. Complete primary structure, distribution of expression, and comparison with the pro-alpha1(XI) collagen chain.
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| Greenspan DS, et al.
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| J Biol Chem 266 : 24727-24733. 1991
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