Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 501

1.

The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.

Nakamura H, Sawamura D, Goto M, Sato-Matsumura KC, LaDuca J, Lee JY, Masunaga T, Shimizu H.

J Dermatol Sci. 2004 May;34(3):195-200.

PMID:
15113589
2.

Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.

Dang N, Klingberg S, Marr P, Murrell DF.

J Dermatol Sci. 2007 Jun;46(3):169-78. Epub 2007 Apr 10. Review.

PMID:
17425959
3.

Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa.

Murata T, Masunaga T, Shimizu H, Takizawa Y, Ishiko A, Hatta N, Nishikawa T.

Arch Dermatol Res. 2000 Oct;292(10):477-81.

PMID:
11142768
4.

A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa.

Zhang XJ, Song YX, Zhang XQ, Yang S, Li M, Li CR, Yang CJ, Yang J.

Clin Exp Dermatol. 2003 Jul;28(4):437-9.

PMID:
12823310
5.

Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1).

Iwata T, Nakano H, Nakano A, Toyomaki Y, Tamai K, Tomita Y.

J Dermatol. 2006 Aug;33(8):550-6.

PMID:
16923137
6.

A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa.

Chuang GS, Martinez-Mir A, Yu HS, Sung FY, Chuang RY, Cserhalmi-Friedman PB, Christiano AM.

Clin Exp Dermatol. 2004 May;29(3):304-7.

PMID:
15115517
7.

A glycine substitution in the COL7A1 gene causes mild RDEB in a Pakistani family.

Kraemer L, Wajid M, Christiano AM.

Eur J Dermatol. 2006 Nov-Dec;16(6):615-9.

PMID:
17229600
8.

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.

Dang N, Murrell DF.

Exp Dermatol. 2008 Jul;17(7):553-68. doi: 10.1111/j.1600-0625.2008.00723.x. Review.

PMID:
18558993
9.

A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.

Riedl E, Klausegger A, Bauer JW, Foedinger D, Kittler H.

Pediatr Dermatol. 2009 Jan-Feb;26(1):115-7. doi: 10.1111/j.1525-1470.2008.00846.x.

PMID:
19250433
10.

Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.

Sawamura D, Goto M, Yasukawa K, Sato-Matsumura K, Nakamura H, Ito K, Nakamura H, Tomita Y, Shimizu H.

J Hum Genet. 2005;50(10):543-6. Epub 2005 Sep 28. Erratum in: J Hum Genet. 2006;51(9):839.

PMID:
16189623
11.

Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.

Ee HL, Liu L, Goh CL, McGrath JA.

J Am Acad Dermatol. 2007 May;56(5 Suppl):S77-81. Review.

PMID:
17434045
12.
14.

A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.

Lee JY, Li C, Chao SC, Pulkkinen L, Uitto J.

Arch Dermatol Res. 2000 Apr;292(4):159-63.

PMID:
10836608
15.

Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.

Sato-Matsumura KC, Yasukawa K, Tomita Y, Shimizu H.

Arch Dermatol. 2002 Feb;138(2):269-71. No abstract available.

PMID:
11843659
16.
17.

A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa.

Shi BJ, Feng J.

Clin Exp Dermatol. 2009 Dec;34(8):e975-8. doi: 10.1111/j.1365-2230.2009.03271.x. Epub 2009 May 27.

PMID:
19486043
18.

Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.

Hammami-Hauasli N, Schumann H, Raghunath M, Kilgus O, Lüthi U, Luger T, Bruckner-Tuderman L.

J Biol Chem. 1998 Jul 24;273(30):19228-34.

19.

High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.

Csikós M, Szocs HI, Lászik A, Mecklenbeck S, Horváth A, Kárpáti S, Bruckner-Tuderman L.

Br J Dermatol. 2005 May;152(5):879-86.

PMID:
15888141
20.

Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.

Almaani N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Wong A, Nanda A, Moss C, Martinéz AE, Mellerio JE, McGrath JA.

Acta Derm Venereol. 2011 May;91(3):262-6. doi: 10.2340/00015555-1053.

Supplemental Content

Support Center