| 1 | COL7A1, PLOD3
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| Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa.
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| Watt SA, Dayal JH, Wright S, Riddle M, Pourreyron C, McMillan JR, Kimble RM, Prisco M, Gartner U, Warbrick E, McLean WH, Leigh IM, McGrath JA, Salas-Alanis JC, Tolar J, South AP.
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| PLoS One 10(9):e0137639. doi: 10.1371/journal.pone.0137639. eCollection 2015.
2015
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| 2 | COL7A1
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| The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
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| van den Akker PC, Jonkman MF, Rengaw T, Bruckner-Tuderman L, Has C, Bauer JW, Klausegger A, Zambruno G, Castiglia D, Mellerio JE, McGrath JA, van Essen AJ, Hofstra RM, Swertz MA.
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| Hum Mutat 32(10):1100-7. doi: 10.1002/humu.21551. Epub 2011 Sep 9.
2011
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| 3 | COL7A1, EBDD, EBDDN, EBDR, EBDRO
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| Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.
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| Kern JS, Grüninger G, Imsak R, Müller ML, Schumann H, Kiritsi D, Emmert S, Borozdin W, Kohlhase J, Bruckner-Tuderman L, Has C.
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| Br J Dermatol 161(5):1089-97. Epub 2009 Jun 5.PMID: 19681861 2009
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| 4 | COL7A1, EBDD, EBDDN, EBDR, EBDRO
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| A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.
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| Riedl E, Klausegger A, Bauer JW, Foedinger D, Kittler H.
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| Pediatr Dermatol 26(1):115-7.PMID: 19250433 2009
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| 5 | COL7A1
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| Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII.
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| Fritsch A, Spassov S, Elfert S, Schlosser A, Gache Y, Meneguzzi G, Bruckner-Tuderman L.
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| J Biol Chem 284(44):30248-56. Epub 2009 Sep 2.PMID: 19726672 2009
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| 6 | COL7A1, EBDD, EBDR
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| Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
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| Dang N, Murrell DF.
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| Exp Dermatol 17(7):553-68. Review.
2008
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| 7 | COL7A1, EBDPR
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| A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa.
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| Ren X, Liu JY, Zhai LY, Yao Q, Dai X, Cai Z, Liu P, Sun K, Huang C, Wang QK, Liu M.
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| Br J Dermatol 158(3):618-20. No abstract available. PMID: 18067480 2008
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| 8 | COL7A1
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| The cartilage matrix protein subdomain of type VII collagen is pathogenic for epidermolysis bullosa acquisita.
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| Chen M, Doostan A, Bandyopadhyay P, Remington J, Wang X, Hou Y, Liu Z, Woodley DT.
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| Am J Pathol 170(6):2009-18.PMID: 17525268 2007
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| 9 | COL7A1, EBDPR
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| Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.
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| Drera B, Castiglia D, Zoppi N, Gardella R, Tadini G, Floriddia G, De Luca N, Pedicelli C, Barlati S, Zambruno G, Colombi M.
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| Clin Genet 70(4):339-47. 2006
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| 10 | COL7A1
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| Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1).
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| Iwata T, Nakano H, Nakano A, Toyomaki Y, Tamai K, Tomita Y.
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| J Dermatol 33(8):550-6. 2006
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| 11 | COL7A1, EBDR, EBDRO
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| Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing.
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| Titeux M, Mejia JE, Mejlumian L, Bourthoumieu S, Mirval S, Tonasso L, Heller M, Prost-Squarcioni C, Hovnanian A.
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| Hum Mutat 27(3):291-2. 2006
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| 12 | COL7A1, EBDPR
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| Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance.
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| Sawamura D, Mochitomi Y, Kanzaki T, Nakamura H, Shimizu H.
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| Br J Dermatol 155(4):834-7. No abstract available. 2006
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| 13 | COL7A1, EBDD, EBDDN, EBDR, EBDRO
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| Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.
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| Kern JS, Kohlhase J, Bruckner-Tuderman L, Has C.
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| J Invest Dermatol 126(5):1006-12. 2006
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| 14 | COL7A1, EBDR, EBDRO
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| Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.
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| Fassihi H, Lu L, Wessagowit V, Ozoemena LC, Jones CA, Dopping-Hepenstal PJ, Foster L, Atherton DJ, Mellerio JE, McGrath JA.
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| J Invest Dermatol 126(9):2039-43. Epub 2006 May 18. 2006
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| 15 | COL7A1, EBDR, EBDRO
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| A glycine substitution in the COL7A1 gene causes mild RDEB in a Pakistani family.
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| Kraemer L, Wajid M, Christiano AM.
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| Eur J Dermatol 16(6):615-9. 2006
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| 16 | COL7A1
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| Type VII collagen is required for Ras-driven human epidermal tumorigenesis.
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| Ortiz-Urda S, Garcia J, Green CL, Chen L, Lin Q, Veitch DP, Sakai LY, Lee H, Marinkovich MP, Khavari PA.
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| Science 307(5716):1773-6. 2005
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| 17 | COL7A1
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| The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.
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| Nakamura H, Sawamura D, Goto M, Sato-Matsumura KC, LaDuca J, Lee JY, Masunaga T, Shimizu H.
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| J Dermatol Sci 34(3):195-200. 2004
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| 18 | COL7A1
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| The recombinant expression of full-length type VII collagen and characterization of molecular mechanisms underlying dystrophic epidermolysis bullosa.
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| Chen M, Costa FK, Lindvay CR, Han YP, Woodley DT.
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| J Biol Chem 277(3):2118-24. Epub 2001 Nov 06. 2002
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| 19 | COL7A1
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| Exclusion of COL7A1 mutation in Kindler syndrome.
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| Yasukawa K, Sato-Matsumura KC, McMillan J, Tsuchiya K, Shimizu H.
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| J Am Acad Dermatol 46(3):447-50. 2002
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| 20 | EBSS, COL7A1
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| EB simplex superficialis resulting from a mutation in the type VII collagen gene.
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| Martinez-Mir A, Liu J, Gordon D, Weiner MS, Ahmad W, Fine JD, Ott J, Gilliam TC, Christiano AM.
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| J Invest Dermatol 118(3):547-9. No abstract available. 2002
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| 21 | COL7A1
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| Proteinases of the bone morphogenetic protein-1 family convert procollagen VII to mature anchoring fibril collagen.
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| Rattenholl A, Pappano WN, Koch M, Keene DR, Kadler KE, Sasaki T, Timpl R, Burgeson RE, Greenspan DS, Bruckner-Tuderman L.
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| J Biol Chem 277(29):26372-8. Epub 2002 May 1.PMID: 11986329 2002
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| 22 | COL7A1, EBDR
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| Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa : analysis of transcript levels in dermal fibroblasts.
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| Gardella R, Zoppi N, Ferraboli S, Marini D, Tadini G, Barlati S, Colombi M.
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| Hum Mutat 13 : 439-452. 1999
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| 23 | COL7A1, EBDD
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| Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).
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| Jonkman MF, Moreno G, Rouan F, Oranje AP, Pulkkinen L, Uitto J.
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| J Invest Dermatol 112(5):815-7. 1999
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| 24 | EBDD, COL7A1
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| Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.
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| Mellerio JE, et al.
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| J Invest Dermatol 112(6):984-7. 1999
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| 25 | COL7A1, EBDD
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| Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing.
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| Betts CM, Posteraro P, Costa AM, Varotti C, Schubert M, Bruckner-Tuderman L, Castiglia D.
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| Br J Dermatol 141(5):833-9. 1999
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| 26 | COL7A1
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| Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.
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| Hammami-Hauasli N, Schumann H, Raghunath M, Kilgus O, Luthi U, Luger T, Bruckner-Tuderman L.
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| J Biol Chem 273 : 19228-19234. 1998
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| 27 | COL7A1, EBDD
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| Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa.
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| Sakuntabhai A, Hammami-Hauasli N, Bodemer C, Rochat A, Prost C, Barrandon Y, de Prost Y, Lathrop M, Wojnarowska F, Bruckner-Tuderman L, Hovnanian A.
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| Am J Hum Genet 63 : 737-748. 1998
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| 28 | COL7A1, EBDR
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| Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.
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| Terracina M, Posteraro P, Schubert M, Sonego G, Atzori F, Zambruno G, Bruckner-Tuderman L, Castiglia D.
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| J Invest Dermatol 111 : 744-750. 1998
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| 29 | COL7A1, EBDD
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| Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa : implications for genetic counseling.
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| Rouan F, Pulkkinen L, Jonkman MF, Bauer JW, Cserhalmi-Friedman PB, Christiano AM, Uitto J.
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| J Invest Dermatol 111 : 1210-1213. 1998
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| 30 | COL7A1, EBDD
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| A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa.
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| Mellerio JE, Salas-Alanis JC, Talamantes ML, Horn H, Tidman MJ, Ashton GH, Eady RA, McGrath JA.
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| Br J Dermatol 139(4):730-7. 1998
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| 31 | COL7A1, SMAD4
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| SMAD3/4-dependent transcriptional activation of the human type VII collagen gene (COL7A1) promoter by transforming growth factor beta.
|
| Vindevoghel L, et al.
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| Proc Natl Acad Sci U S A 95(25):14769-74. 1998
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| 32 | EBDR, COL7A1
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| Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa : implications for genetic counseling.
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| Kon A, McGrath JA, Pulkkinen L, Nomura K, Nakamura T, Maekawa Y, Christiano AM, Hashimoto I, Uitto J.
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| J Invest Dermatol 108 : 224-228. 1997
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| 33 | COL7A1, EBDD, EBDR
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| Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.
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| Winberg JO, Hammami-Hauasli N, Nilssen O, Anton-Lamprecht I, Naylor SL, Kerbacher K, Zimmermann M, Krajci P, Gedde-Dahl T Jr, Bruckner-Tuderman L.
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| Hum Mol Genet 6(7):1125-35. 1997
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| 34 | COL7A1, EBDD
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| A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa.
|
| Lee JY, Pulkkinen L, Liu HS, Chen YF, Uitto J.
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| J Invest Dermatol 108(6):947-9. 1997
|
| 35 | COL7A1, EBDD
|
| Dominant dystrophic epidermolysis bullosa albopapuloidea Pasini -- ultrastructural observations of albopapuloid lesions and a type VII collagen DNA polymorphism study of a family.
|
| Nomura K, Umeki K, Sawamura D, Hashimoto I.
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| Acta Derm Venereol 77(4):277-80. 1997
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| 36 | COL7A1, EBDR
|
| Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa.
|
| Mellerio JE, Dunnill MG, Allison W, Ashton GH, Christiano AM, Uitto J, Eady RA, McGrath JA.
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| J Invest Dermatol 109(2):246-9. 1997
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| 37 | COL7A1, EBDR
|
| Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
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| Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers CA, Prost C, Fraitag S, Christiano AM, Uitto J, Lathrop M, Barrandon Y, de Prost Y.
|
| Am J Hum Genet 61(3):599-610. 1997
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| 38 | COL7A1, EBDD, EBDR
|
| Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
|
| Jarvikallio A, Pulkkinen L, Uitto J.
|
| Hum Mutat 10(5):338-47. 1997
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| 39 | COL7A1, EBDD
|
| Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic.
|
| Kon A, Nomura K, Pulkkinen L, Sawamura D, Hashimoto I, Uitto J.
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| J Invest Dermatol 109(5):684-7. 1997
|
| 40 | COL7A1, EBDD, EBDR
|
| Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa : a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.
|
| Christiano AM, Anton-Lamprecht I, Amano S, Ebschner U, Burgeson RE, Uitto J.
|
| Am J Hum Genet 58 : 682-693. 1996
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| 41 | COL7A1, EBDD, EBDR
|
| Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.
|
| Christiano AM, McGrath JA, Tan KC, Uitto J.
|
| Am J Hum Genet 58 : 671-681. 1996
|
| 42 | COL7A1, EBDR
|
| A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa.
|
| Christiano AM, D'Alessio M, Paradisi M, Angelo C, Mazzanti C, Puddu P, Uitto J.
|
| J Invest Dermatol 106 : 679-684. 1996
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| 43 | COL7A1, EBDD
|
| Genetic basis of Bart's syndrome : a glycine substitution mutation in the type VII collagen gene.
|
| Christiano AM, Bart BJ, Epstein EH Jr, Uitto J.
|
| J Invest Dermatol 106 : 778-780. 1996
|
| 44 | COL7A1, EBDR
|
| Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.
|
| Gardella R, Belletti L, Zoppi N, Marini D, Barlati S, Colombi M.
|
| Am J Hum Genet 59 : 292-300. 1996
|
| 45 | COL7A1, EBDR
|
| Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
|
| Dunnill MG, McGrath JA, Richards AJ, Christiano AM, Uitto J, Pope FM, Eady RA.
|
| J Invest Dermatol 107 : 171-177. 1996
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| 46 | COL7A1, LRS1
|
| Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from the COL7A1 locus.
|
| Vujic M, Hallstensson K, Wahlstrom J, Lundberg A, Langmaack C, Martinson T.
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| Am J Hum Genet 57 : 1104-1113. 1995
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| 47 | EBDD, COL7A1
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| A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.
|
| Christiano AM, Morricone A, Paradisi M, Angelo C, Mazzanti C, Cavalieri R, Uitto J.
|
| J Invest Dermatol 104 : 438-440. 1995
|
| 48 | COL7A1, EBDR
|
| Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.
|
| Christiano AM, Suga Y, Greenspan DS, Ogawa H, Uitto J.
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| J Clin Invest 95 : 1328-1334. 1995
|
| 49 | COL7A1, EBDD
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| Genetic linkage between the collagen type VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features.
|
| Naeyaert JM, et al.
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| J Invest Dermatol 104 : 803-805. 1995
|
| 50 | COL7A1, EBDD
|
| Pretibial epidermolysis bullosa : genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.
|
| Christiano AM, Lee JY, Chen WJ, LaForgia S, Uitto J.
|
| Hum Mol Genet 4 : 1579-1583. 1995
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| 51 | COL7A1
|
| Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene.
|
| Christiano AM, Hoffman GG, Chung-Honet LC, Lee S, Cheng W, Uitto J, Greenspan DS.
|
| Genomics 21 : 169-179. 1994
|
| 52 | EBDR, COL7A1
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| Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.
|
| Christiano AM, Suga Y, Greenspan DS, Ogawa H, Uitto J.
|
| Genomics 21 : 160-168. 1994
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| 53 | COL7A1, EBDD
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| Dominant dystrophic epidermolysis bullosa : identification of a Gly-Ser substitution in the triple-helical domain of type VII collagen.
|
| Christiano AM, Ryynanen M, Uitto J.
|
| Proc Natl Acad Sci U S A 91 : 3549-3553. 1994
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| 54 | COL7A1, EBDR
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| Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.
|
| Hovnanian A, Hilal L, Blanchet-Bardon C, de Prost Y, Christiano AM, Uitto J, Goossens M.
|
| Am J Hum Genet 55 : 289-296. 1994
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| 55 | EBDR, COL7A1
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| A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa.
|
| Dunnill MG, Richards AJ, Milana G, Mollica F, Eady RA, Pope FM.
|
| Hum Mol Genet 3 : 1693-1694. 1994
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| 56 | EBDR, COL7A1
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| Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities.
|
| Dunnill MG, Richards AJ, Milana G, Mollica F, Atherton D, Winship I, Farrall M, al-Imara L, Eady RA, Pope FM.
|
| J Med Genet 31 : 745-748. 1994
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| 57 | COL7A1, EBDD, EBDR
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| Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa : mutations in the type VII collagen and kalinin (laminin 5) genes.
|
| Uitto J, Pulkkinen L, Christiano AM.
|
| J Invest Dermatol 103 : 39S-46S. 1994
|
| 58 | COL7A1
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| Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms.
|
| Christiano AM, Greenspan DS, Lee S, Uitto J.
|
| J Biol Chem 269 : 20256-20262. 1994
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| 59 | COL7A1, EBDR
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| A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.
|
| Christiano AM, Greenspan DS, Hoffman GG, Zhang X, Tamai Y, Lin AN, Dietz HC, Hovnanian A, Uitto J.
|
| Nat Genet 4 : 62-66. 1993
|
| 60 | COL7A1
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| Localization of the human collagen gene COL7A1 to 3p21.3 by fluorescence in situ hybridization.
|
| Greenspan DS, Byers MG, Eddy RL, Hoffman GG, Shows TB.
|
| Cytogenet Cell Genet 62 : 35-36. 1993
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| 61 | COL7A1
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| Molecular cloning and characterization of type VII collagen cDNA.
|
| Tanaka T, Takahashi K, Furukawa F, Imamura S.
|
| Biochem Biophys Res Commun 183 : 958-963. 1992
|
| 62 | COL7A1
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| PCR-based detection of two exonic polymorphisms in the human type VII collagen gene (COL7A1) at 3p21.1.
|
| Christiano AM, et al.
|
| Genomics 14 : 827-828. 1992
|
| 63 | EBDD, COL7A1
|
| Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds.
|
| Gruis NA, Bavinck JN, Steijlen PM, van der Schroeff JG, van Haeringen A, Happle R, Mariman E, van Beersum SE, Uitto J, Vermeer BJ, et al.
|
| J Invest Dermatol 99 : 528-530. 1992
|
| 64 | COL7A1
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| Human type VII collagen : cDNA cloning and chromosomal mapping of the gene.
|
| Parente MG, Chung LC, Ryynanen J, Woodley DT, Wynn KC, Bauer EA, Mattei MG, Chu ML, Uitto J.
|
| Proc Natl Acad Sci U S A 88 : 6931-6935. 1991
|