| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | 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.
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| Lee JY, Pulkkinen L, Liu HS, Chen YF, Uitto J.
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| J Invest Dermatol 108(6):947-9. 1997
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| 13 | COL7A1, EBDD
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| Dominant dystrophic epidermolysis bullosa albopapuloidea Pasini -- ultrastructural observations of albopapuloid lesions and a type VII collagen DNA polymorphism study of a family.
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| Nomura K, Umeki K, Sawamura D, Hashimoto I.
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| Acta Derm Venereol 77(4):277-80. 1997
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| 14 | COL7A1, EBDD, EBDR
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| Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
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| Jarvikallio A, Pulkkinen L, Uitto J.
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| Hum Mutat 10(5):338-47. 1997
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| 15 | COL7A1, EBDD
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| Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic.
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| Kon A, Nomura K, Pulkkinen L, Sawamura D, Hashimoto I, Uitto J.
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| J Invest Dermatol 109(5):684-7. 1997
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| 16 | COL7A1, EBDD, EBDR
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| 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.
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| Christiano AM, Anton-Lamprecht I, Amano S, Ebschner U, Burgeson RE, Uitto J.
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| Am J Hum Genet 58 : 682-693. 1996
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| 17 | COL7A1, EBDD, EBDR
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| Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.
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| Christiano AM, McGrath JA, Tan KC, Uitto J.
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| Am J Hum Genet 58 : 671-681. 1996
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| 18 | COL7A1, EBDD
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| Genetic basis of Bart's syndrome : a glycine substitution mutation in the type VII collagen gene.
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| Christiano AM, Bart BJ, Epstein EH Jr, Uitto J.
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| J Invest Dermatol 106 : 778-780. 1996
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| 19 | 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.
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| Christiano AM, Morricone A, Paradisi M, Angelo C, Mazzanti C, Cavalieri R, Uitto J.
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| J Invest Dermatol 104 : 438-440. 1995
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| 20 | COL7A1, EBDD
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| Genetic linkage between the collagen type VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features.
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| Naeyaert JM, et al.
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| J Invest Dermatol 104 : 803-805. 1995
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| 21 | EBDD
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| Bart's syndrome. Ultrastructure and genetic linkage.
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| Zelickson B, et al.
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| Arch Dermatol 131 : 663-668. 1995
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| 22 | COL7A1, EBDD
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| Pretibial epidermolysis bullosa : genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.
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| Christiano AM, Lee JY, Chen WJ, LaForgia S, Uitto J.
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| Hum Mol Genet 4 : 1579-1583. 1995
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| 23 | 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.
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| Christiano AM, Ryynanen M, Uitto J.
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| Proc Natl Acad Sci U S A 91 : 3549-3553. 1994
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| 24 | 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.
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| Uitto J, Pulkkinen L, Christiano AM.
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| J Invest Dermatol 103 : 39S-46S. 1994
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| 25 | EBDD
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| Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.
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| Ryynnen M, et al.
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| J Clin Invest 89 : 974-980. 1992
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| 26 | EBDD
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| Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus.
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| Al-Imara L, et al.
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| J Med Genet 29 : 381-382. 1992
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| 27 | EBDD, COL7A1
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| Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds.
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| 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.
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| J Invest Dermatol 99 : 528-530. 1992
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| 28 | EBDD
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| Congenital localized absence of the skin as a manifestation of epidermolysis bullosa.
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| Kanzler MH, et al.
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| Arch Dermatol 128 : 1087-1090. 1992
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| 29 | EBDD
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| Human type VII collagen : genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa.
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| Ryynnen M, et al.
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| Am J Hum Genet 49 : 797-803. 1991
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