-
1
-
-
0028818051
-
A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction
-
Nomura K, Nakano H, Umeki K, Harada K, Kon A, Tamai K, et al: A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction. Acta Derm Venereol 1995; 75: 340-342.
-
(1995)
Acta Derm Venereol
, vol.75
, pp. 340-342
-
-
Nomura, K.1
Nakano, H.2
Umeki, K.3
Harada, K.4
Kon, A.5
Tamai, K.6
-
2
-
-
0030754568
-
Diagnosis of a deletion of steroid sulfatase by polymerase chain reaction and high-performance liquid chromatography
-
Sugawara T, Iwaki M, Fujimoto S: Diagnosis of a deletion of steroid sulfatase by polymerase chain reaction and high-performance liquid chromatography. Clin Chim Acta 1997; 263: 25-32.
-
(1997)
Clin Chim Acta
, vol.263
, pp. 25-32
-
-
Sugawara, T.1
Iwaki, M.2
Fujimoto, S.3
-
3
-
-
0033995677
-
Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: Analysis by polymerase chain reaction and fluorescence in situ hybridization techniques
-
Aviram-Goldring A, Goldman B, Netanelov- Shapira I, Chen-Shtoyerman R, Zvulunov A, Tal O, et al: Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques. Int J Dermatol 2000; 39: 182-187.
-
(2000)
Int J Dermatol
, vol.39
, pp. 182-187
-
-
Aviram-Goldring, A.1
Goldman, B.2
Netanelov-Shapira, I.3
Chen-Shtoyerman, R.4
Zvulunov, A.5
Tal, O.6
-
4
-
-
0030853052
-
Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa
-
Christiano AM, Hoffman GG, Zhang X, Xu Y, Tamai Y, Greenspan DS, et al: Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa. Hum Mutat 1997; 10: 408-414.
-
(1997)
Hum Mutat
, vol.10
, pp. 408-414
-
-
Christiano, A.M.1
Hoffman, G.G.2
Zhang, X.3
Xu, Y.4
Tamai, Y.5
Greenspan, D.S.6
-
5
-
-
17144473207
-
A -96C- 1 T mutation in the promoter of the collagen type VII gene ( COL7A1 ) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa
-
Gardella R, Barlati S, Zoppi N, Tadini G, Colombi M: A -96C- 1 T mutation in the promoter of the collagen type VII gene ( COL7A1 ) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa. Hum Mutat 2000; 16: 275.
-
(2000)
Hum Mutat
, vol.16
, pp. 275
-
-
Gardella, R.1
Barlati, S.2
Zoppi, N.3
Tadini, G.4
Colombi, M.5
-
6
-
-
0026749115
-
Epidermal lipids and scaling diseases of the skin
-
Williams ML: Epidermal lipids and scaling diseases of the skin. Semin Dermatol 1992; 11: 169-175.
-
(1992)
Semin Dermatol
, vol.11
, pp. 169-175
-
-
Williams, M.L.1
-
8
-
-
0024208474
-
The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: Evidence for an inversion of the y chromosome during primate evolution
-
Yen PH, Marsh B, Allen E, Tsai SP, Ellison J, Connolly L, et al: The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution. Cell 1988; 55: 1123-1135.
-
(1988)
Cell
, vol.55
, pp. 1123-1135
-
-
Yen, P.H.1
Marsh, B.2
Allen, E.3
Tsai, S.P.4
Ellison, J.5
Connolly, L.6
-
9
-
-
0025220144
-
Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification
-
Ballabio A, Ranier JE, Chamberlain JS, Zollo M, Caskey CT: Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification. Hum Genet 1990; 84: 571-573.
-
(1990)
Hum Genet
, vol.84
, pp. 571-573
-
-
Ballabio, A.1
Ranier, J.E.2
Chamberlain, J.S.3
Zollo, M.4
Caskey, C.T.5
-
10
-
-
0024527636
-
Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels
-
Ballabio A, Carrozzo R, Parenti G, Gil A, Zollo M, Persico MG, et al: Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels. Genomics 1989; 4: 36-40.
-
(1989)
Genomics
, vol.4
, pp. 36-40
-
-
Ballabio, A.1
Carrozzo, R.2
Parenti, G.3
Gil, A.4
Zollo, M.5
Persico, M.G.6
-
11
-
-
0023473993
-
Cloning of a cDNA for steroid sulfatase: Frequent occurrence of gene deletions in patients with recessive X chromosome- linked ichthyosis
-
Bonifas JM, Morley BJ, Oakey RE, Kan YW, Epstein EH Jr: Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome- linked ichthyosis. Proc Natl Acad Sci USA 1987; 84: 9248-9251.
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 9248-9251
-
-
Bonifas, J.M.1
Morley, B.J.2
Oakey, R.E.3
Kan, Y.W.4
Epstein Jr., E.H.5
-
12
-
-
0009462761
-
Molecular studies of deletions at the human steroid sulfatase locus
-
Shapiro LJ, Yen P, Pomerantz D, Martin E, Rolewic L, Mohandas T: Molecular studies of deletions at the human steroid sulfatase locus. Proc Natl Acad Sci USA 1989; 86: 8477-8481.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 8477-8481
-
-
Shapiro, L.J.1
Yen, P.2
Pomerantz, D.3
Martin, E.4
Rolewic, L.5
Mohandas, T.6
-
13
-
-
0024208474
-
The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: Evidence for an inversion of the y chromosome during primate evolution
-
Yen PH, Marsh B, Allen E, Tsai SP, Ellison J, Connolly L, et al: The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution. Cell 1988; 55: 1123-1135.
-
(1988)
Cell
, vol.55
, pp. 1123-1135
-
-
Yen, P.H.1
Marsh, B.2
Allen, E.3
Tsai, S.P.4
Ellison, J.5
Connolly, L.6
-
14
-
-
0030753202
-
Characterization of point mutations in patients with X-linked ichthyosis: Effects on the structure and function of the steroid sulfatase protein
-
Alperin ES, Shapiro LJ: Characterization of point mutations in patients with X-linked ichthyosis: effects on the structure and function of the steroid sulfatase protein. J Biol Chem 1997; 272: 20756-20763.
-
(1997)
J Biol Chem
, vol.272
, pp. 20756-20763
-
-
Alperin, E.S.1
Shapiro, L.J.2
-
15
-
-
0026550483
-
Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis
-
Basler E, Grompe M, Parenti G, Yates J, Ballabio A: Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis. Am J Hum Genet 1992; 50: 483-491.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 483-491
-
-
Basler, E.1
Grompe, M.2
Parenti, G.3
Yates, J.4
Ballabio, A.5
-
16
-
-
33744769067
-
Point mutation in the STS gene in a severely affected patient with X-linked recessive ichthyosis
-
Gonzalez-Huerta LM, Messina-Baas OM, Toral-Lopez J, Rivera-Vega MR, Kofman- Alfaro S, Cuevas-Covarrubias SA: Point mutation in the STS gene in a severely affected patient with X-linked recessive ichthyosis. Acta Derm Venereol 2006; 86: 78-79.
-
(2006)
Acta Derm Venereol
, vol.86
, pp. 78-79
-
-
Gonzalez-Huerta, L.M.1
Messina-Baas, O.M.2
Toral-Lopez, J.3
Rivera-Vega, M.R.4
Kofman-Alfaro, S.5
Cuevas-Covarrubias, S.A.6
-
17
-
-
0023919856
-
Recurrent bilateral corneal erosions due to an association of epidermolysis bullosa simplex Köbner and X-linked ichthyosis with steroid sulfatase deficiency
-
Steuhl KP, Anton-Lamprecht I, Arnold ML, Thiel HJ: Recurrent bilateral corneal erosions due to an association of epidermolysis bullosa simplex Köbner and X-linked ichthyosis with steroid sulfatase deficiency. Graefes Arch Clin Exp Ophthalmol 1988; 226: 216-223.
-
(1988)
Graefes Arch Clin Exp Ophthalmol
, vol.226
, pp. 216-223
-
-
Steuhl, K.P.1
Anton-Lamprecht, I.2
Arnold, M.L.3
Thiel, H.J.4
-
18
-
-
0027296584
-
Type VII collagen, anchoring fibrils, and epidermolysis bullosa
-
Burgeson RE: Type VII collagen, anchoring fibrils, and epidermolysis bullosa. J Invest Dermatol 1993; 101: 252-255.
-
(1993)
J Invest Dermatol
, vol.101
, pp. 252-255
-
-
Burgeson, R.E.1
-
19
-
-
0028003651
-
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: Cloning of human type VII collagen: complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms. J Biol Chem 1994; 269: 20256-20262.
-
(1994)
J Biol Chem
, vol.269
, pp. 20256-20262
-
-
Christiano, A.M.1
Greenspan, D.S.2
Lee, S.3
Uitto, J.4
-
20
-
-
0028244102
-
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, et al: Structural organization of the human type VII collagen gene ( COL7A1 ), composed of more exons than any previously characterized gene. Genomics 1994; 21: 169-179.
-
(1994)
Genomics
, vol.21
, pp. 169-179
-
-
Christiano, A.M.1
Hoffman, G.G.2
Chung-Honet, L.C.3
Lee, S.4
Cheng, W.5
Uitto, J.6
-
21
-
-
0032956369
-
Diagnostic dilemma of 'sporadic' cases of dystrophic epidermolysis bullosa: A new dominant or mitis recessive mutation?
-
Hashimoto I, Kon A, Tamai K, Uitto J: Diagnostic dilemma of 'sporadic' cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation? Exp Dermatol 1999; 8: 140-142.
-
(1999)
Exp Dermatol
, vol.8
, pp. 140-142
-
-
Hashimoto, I.1
Kon, A.2
Tamai, K.3
Uitto, J.4
-
22
-
-
0030735788
-
Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene ( COL7A1 )
-
Jarvikallio A, Pulkkinen L, Uitto J: Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene ( COL7A1 ). Hum Mutat 1997; 10: 338-347.
-
(1997)
Hum Mutat
, vol.10
, pp. 338-347
-
-
Jarvikallio, A.1
Pulkkinen, L.2
Uitto, J.3
-
23
-
-
0028589635
-
Molecular basis for the dystrophic forms of epidermolysis bullosa: Mutations in the type VII collagen gene
-
Uitto J, Christiano AM: Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene. Arch Dermatol Res 1994; 287: 16-22.
-
(1994)
Arch Dermatol Res
, vol.287
, pp. 16-22
-
-
Uitto, J.1
Christiano, A.M.2
-
24
-
-
0036046184
-
Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene
-
Gardella R, Zoppi N, Zambruno G, Barlati S, Colombi M: Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene. Br J Dermatol 2002; 147: 450-457.
-
(2002)
Br J Dermatol
, vol.147
, pp. 450-457
-
-
Gardella, R.1
Zoppi, N.2
Zambruno, G.3
Barlati, S.4
Colombi, M.5
-
25
-
-
0031695908
-
A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene ( COL7A1 ) in dominant dystrophic epidermolysis bullosa
-
Mellerio JE, Salas-Alanis JC, Talamantes ML, Horn H, Tidman MJ, Ashton GH, et al: A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene ( COL7A1 ) in dominant dystrophic epidermolysis bullosa. Br J Dermatol 1998; 139: 730-737.
-
(1998)
Br J Dermatol
, vol.139
, pp. 730-737
-
-
Mellerio, J.E.1
Salas-Alanis, J.C.2
Talamantes, M.L.3
Horn, H.4
Tidman, M.J.5
Ashton, G.H.6
-
26
-
-
0032956369
-
Diagnostic dilemma of 'sporadic' cases of dystrophic epidermolysis bullosa: A new dominant or mitis recessive mutation?
-
Hashimoto I, Kon A, Tamai K, Uitto J: Diagnostic dilemma of 'sporadic' cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation? Exp Dermatol 1999; 8: 140-142.
-
(1999)
Exp Dermatol
, vol.8
, pp. 140-142
-
-
Hashimoto, I.1
Kon, A.2
Tamai, K.3
Uitto, J.4
-
27
-
-
16944363423
-
Characterization of new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation
-
Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers CA, Prost C, et al: Characterization of new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation. Am J Hum Genet 1997; 61: 599-610.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 599-610
-
-
Hovnanian, A.1
Rochat, A.2
Bodemer, C.3
Petit, E.4
Rivers, C.A.5
Prost, C.6
-
28
-
-
33646128739
-
Expanding the COL7A1 mutation database: Novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa
-
Kern JS, Kohlhase J, Bruckner-Tuderman L, Has C: Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. J Invest Dermatol 2006; 126: 1006-1012.
-
(2006)
J Invest Dermatol
, vol.126
, pp. 1006-1012
-
-
Kern, J.S.1
Kohlhase, J.2
Bruckner-Tuderman, L.3
Has, C.4
-
29
-
-
1342307287
-
Premature termination codons enhance mRNA decapping in human cells
-
Couttet P, Grange T: Premature termination codons enhance mRNA decapping in human cells. Nucleic Acids Res 2004; 32: 488-494.
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 488-494
-
-
Couttet, P.1
Grange, T.2
-
30
-
-
44949148069
-
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa
-
Dang N, Murrell DF: Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp Dermatol 2008; 17: 553-568.
-
(2008)
Exp Dermatol
, vol.17
, pp. 553-568
-
-
Dang, N.1
Murrell, D.F.2
-
31
-
-
77954023807
-
The first COL7A1 mutation survey in a large Spanish Dystrophic Epidermolysis Bullosa cohort: C.6527insC disclosed as an unusually recurrent mutation
-
Epub ahead of print
-
Escámez MJ, Garcia M, Cuadrado-Corrales N, Llames S, Charlesworth, de Luca N, et al: The first COL7A1 mutation survey in a large Spanish Dystrophic Epidermolysis Bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation. Br J Dermatol 2010, Epub ahead of print.
-
(2010)
Br J Dermatol
-
-
Escámez, M.J.1
Garcia, M.2
Cuadrado-Corrales, N.3
Llames, S.4
Charlesworth De Luca, N.5
|