-
1
-
-
0020034842
-
Generalized atrophic benign epidermolysis bullosa
-
Hintner H, Wolff K. Generalized atrophic benign epidermolysis bullosa. Arch Derm 1982: 118: 375-384.
-
(1982)
Arch Derm
, vol.118
, pp. 375-384
-
-
Hintner, H.1
Wolff, K.2
-
3
-
-
0025053990
-
Isolation of a human epidermal cDNA corresponding to the 180-kD autoantigen recognized by bullous pemphigoid and herpes gestationis sera: Immunolocalization of this protein to the hemisdesmosome
-
Diaz L A, Ratrie H III, Saunders W S et al. Isolation of a human epidermal cDNA corresponding to the 180-kD autoantigen recognized by bullous pemphigoid and herpes gestationis sera: Immunolocalization of this protein to the hemisdesmosome. J Clin Invest 1990: 86: 1088-1094.
-
(1990)
J Clin Invest
, vol.86
, pp. 1088-1094
-
-
Diaz, L.A.1
Ratrie H. III2
Saunders, W.S.3
-
4
-
-
0027477628
-
Cloning of type XVII collagen: Complementary and genomic sequences of mouse 180-kDa bullous pemphigoid antigen (BPAG2) predict an interrupted collagenous domain, a transmembranous segment, and unusual features in the 5-prime end of the gene and the 3-prime-untranslated region of the mRNA
-
Li K, Tamai K, Tan E M L, Uitto J. Cloning of type XVII collagen: Complementary and genomic sequences of mouse 180-kDa bullous pemphigoid antigen (BPAG2) predict an interrupted collagenous domain, a transmembranous segment, and unusual features in the 5-prime end of the gene and the 3-prime-untranslated region of the mRNA. J Biol Chem 1993: 268: 8825-8834.
-
(1993)
J Biol Chem
, vol.268
, pp. 8825-8834
-
-
Li, K.1
Tamai, K.2
Tan, E.M.L.3
Uitto, J.4
-
5
-
-
0029890331
-
Demonstration of the molecular shape of BP180, a 180-kDa bullous pemphigoid antigen, and its potential for trimer formation
-
Hirako Y, Usukura J, Nishizawa Y, Owaribe K. Demonstration of the molecular shape of BP180, a 180-kDa bullous pemphigoid antigen, and its potential for trimer formation. J Biol Chem 1996: 271: 13739-13745.
-
(1996)
J Biol Chem
, vol.271
, pp. 13739-13745
-
-
Hirako, Y.1
Usukura, J.2
Nishizawa, Y.3
Owaribe, K.4
-
6
-
-
0030798040
-
The extracellular domain of BPAG2 localizes to anchoring filaments and its carboxyl terminus extends to the lamina densa of normal human epidermal basement membrane
-
Masunaga T, Shimizu H, Yee C, Borradori L, Nishikawa T, Yancey K B. The extracellular domain of BPAG2 localizes to anchoring filaments and its carboxyl terminus extends to the lamina densa of ormal human epidermal basement membrane. J Invest Dermatol 1997: 109: 200-206.
-
(1997)
J Invest Dermatol
, vol.109
, pp. 200-206
-
-
Masunaga, T.1
Shimizu, H.2
Yee, C.3
Borradori, L.4
Nishikawa, T.5
Yancey, K.B.6
-
7
-
-
0029873761
-
A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa
-
McGrath J A, Darling T N, Gatalica B, et al. A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1996: 106: 771-774.
-
(1996)
J Invest Dermatol
, vol.106
, pp. 771-774
-
-
McGrath, J.A.1
Darling, T.N.2
Gatalica, B.3
-
8
-
-
8244226653
-
Premature termination codons are present on both alleles of the bullous pemphigoid antige 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa
-
Darling T N, McGrath J A, Gatalica B et al. Premature termination codons are present on both alleles of the bullous pemphigoid antige 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1997: 108: 463-468.
-
(1997)
J Invest Dermatol
, vol.108
, pp. 463-468
-
-
Darling, T.N.1
McGrath, J.A.2
Gatalica, B.3
-
9
-
-
0031930104
-
A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represents propagation of an ancestral allele
-
Darling T N, Koh B, Bale S J et al. A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represents propagation of an ancestral allele. J Invest Dermatol 1998: 110: 170-173.
-
(1998)
J Invest Dermatol
, vol.110
, pp. 170-173
-
-
Darling, T.N.1
Koh, B.2
Bale, S.J.3
-
10
-
-
0032740890
-
Revertant mosaicism: Partial correction of a germ-line mutation in COL17 A1 by a frame-restoring mutation
-
Darling T N, Yee C, Bauer J W, Hintner H, Yancey K B. Revertant mosaicism: Partial correction of a germ-line mutation in COL17 A1 by a frame-restoring mutation. J Clin Invest 1999: 103: 1371-1377.
-
(1999)
J Clin Invest
, vol.103
, pp. 1371-1377
-
-
Darling, T.N.1
Yee, C.2
Bauer, J.W.3
Hintner, H.4
Yancey, K.B.5
-
12
-
-
0041998046
-
Delineation of genes expressed in human epidermis by large-scale sequencing of a cDNA library generated from laser capture microdissected skin
-
[abstract]
-
Darling T N, Koh B, Yancey K B. Delineation of genes expressed in human epidermis by large-scale sequencing of a cDNA library generated from laser capture microdissected skin. J Invest Dermatol 1999: 112: 635 [abstract].
-
(1999)
J Invest Dermatol
, vol.112
, pp. 635
-
-
Darling, T.N.1
Koh, B.2
Yancey, K.B.3
-
13
-
-
0029330286
-
When cells stop making sense. Effects of nonsense codons on RNA metabolism in vertebrate cells
-
Maquat L E. When cells stop making sense. Effects of nonsense codons on RNA metabolism in vertebrate cells. RNA 1995: 1: 453-465.
-
(1995)
RNA
, vol.1
, pp. 453-465
-
-
Maquat, L.E.1
-
14
-
-
0029835707
-
Defects in RNA splicing and the consequences of shortened translational reading frames
-
Maquat L E. Defects in RNA splicing and the consequences of shortened translational reading frames. Am J Hum Genet 1996: 59: 279-286.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 279-286
-
-
Maquat, L.E.1
-
15
-
-
0031907861
-
Cycloheximide facilates the identification of aberrant transcripts resulting from a novel splice-site mutations in COL17 A1 in a patient with generalized atrophic benign epidermolysis bullosa
-
Darling T N, Yee C, Koh B et al. Cycloheximide facilates the identification of aberrant transcripts resulting from a novel splice-site mutations in COL17 A1 in a patient with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1998: 110: 165-169.
-
(1998)
J Invest Dermatol
, vol.110
, pp. 165-169
-
-
Darling, T.N.1
Yee, C.2
Koh, B.3
-
16
-
-
0030745114
-
Cloning and characterization of HUPF1, a human homolog of the Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 protein
-
Applequist S E, Selg M, Raman C, Jack H M. Cloning and characterization of HUPF1, a human homolog of the Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 protein. Nucl Acids Res 1997: 25: 814.
-
(1997)
Nucl Acids Res
, vol.25
, pp. 814
-
-
Applequist, S.E.1
Selg, M.2
Raman, C.3
Jack, H.M.4
-
17
-
-
0029745053
-
Mammalian orthologues of a yeast regulator of nonsense transcript stability
-
Perlick H A, Medghalchi S M, Spencer F A, Kendzior R J Jr, Dietz H C. Mammalian orthologues of a yeast regulator of nonsense transcript stability. Proc Natl Acad Sci USA 1996: 93: 10928-10932.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 10928-10932
-
-
Perlick, H.A.1
Medghalchi, S.M.2
Spencer, F.A.3
Kendzior R.J., Jr.4
Dietz, H.C.5
|