-
1
-
-
0025847943
-
Ocular findings in X-linked ichthyosis: A survey on 38 cases
-
Costagliola C, Fabbrocini G, Illiano GM, et al. Ocular findings in X-linked ichthyosis: A survey on 38 cases. Ophthalmologica 1991; 3: 152-155.
-
(1991)
Ophthalmologica
, vol.3
, pp. 152-155
-
-
Costagliola, C.1
Fabbrocini, G.2
Illiano, G.M.3
-
2
-
-
0042887596
-
Frequency of X-linked ichthyosis in coastal southern Italy: A study on a representative sample of a young male population
-
Ingordo V, D'Andria G, Gentile C, et al. Frequency of X-linked ichthyosis in coastal southern Italy: A study on a representative sample of a young male population. Dermatology 2003; 207: 148-150.
-
(2003)
Dermatology
, vol.207
, pp. 148-150
-
-
Ingordo, V.1
D'Andria, G.2
Gentile, C.3
-
3
-
-
17044428337
-
Steroid sulfatase: Molecularbiology, regulation, and inhibition
-
Reed MJ, Purohit A, Woo LW, et al. Steroid sulfatase: Molecular biology, regulation, and inhibition. Endocr Rev 2005; 26: 171-202.
-
(2005)
Endocr Rev
, vol.26
, pp. 171-202
-
-
Reed, M.J.1
Purohit, A.2
Woo, L.W.3
-
4
-
-
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, 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
-
5
-
-
0035717589
-
Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population
-
Jimenez Vaca AL, Valdes-Flores Mdel R, Rivera-Vega MR, et al. Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population. Mol Med 2001; 7: 845-849.
-
(2001)
Mol Med
, vol.7
, pp. 845-849
-
-
Jimenez Vaca, A.L.1
Valdes-Flores Mdel, R.2
Rivera-Vega, M.R.3
-
6
-
-
23944517115
-
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis
-
Van Esch H, Hollanders K, Badisco L, et al. Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. Hum Mol Genet 2005; 14: 1795-1803.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1795-1803
-
-
Van Esch, H.1
Hollanders, K.2
Badisco, L.3
-
7
-
-
0032448266
-
Cholesterol sulfate activates transcription of transglutaminase 1 gene in normal human keratinocytes
-
Kawabe S, Ikuta T, Ohba M, et al. Cholesterol sulfate activates transcription of transglutaminase 1 gene in normal human keratinocytes. J Invest Dermatol 1998; 111: 1098-1102.
-
(1998)
J Invest Dermatol
, vol.111
, pp. 1098-1102
-
-
Kawabe, S.1
Ikuta, T.2
Ohba, M.3
-
8
-
-
0039004404
-
Cholesterol 3-sulfate interferes with cornified envelope assembly by diverting transglutaminase 1 activity from the formation of cross-links and esters to the hydrolysis of glutamine
-
Nemes Z, Demeny M, Marekiv LN, Fesus L, Steinert PM. Cholesterol 3-sulfate interferes with cornified envelope assembly by diverting transglutaminase 1 activity from the formation of cross-links and esters to the hydrolysis of glutamine. J Biol Chem 2000; 28: 2636-2646.
-
(2000)
J Biol Chem
, vol.28
, pp. 2636-2646
-
-
Nemes, Z.1
Demeny, M.2
Marekiv, L.N.3
Fesus, L.4
Steinert, P.M.5
-
9
-
-
10744223838
-
Basis for abnormal desquamation and permeability barrier dysfunction in RXLI
-
Elias PM, Crumrine D, Rassner U, et al. Basis for abnormal desquamation and permeability barrier dysfunction in RXLI. J Invest Dermatol 2004; 122: 314-319.
-
(2004)
J Invest Dermatol
, vol.122
, pp. 314-319
-
-
Elias, P.M.1
Crumrine, D.2
Rassner, U.3
-
10
-
-
36248957531
-
Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis
-
Liao H, Waters AJ, Goudie DR, et al. Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis. J Invest Dermatol 2007; 127: 2795-2798.
-
(2007)
J Invest Dermatol
, vol.127
, pp. 2795-2798
-
-
Liao, H.1
Waters, A.J.2
Goudie, D.R.3
|