-
1
-
-
0025967453
-
Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism
-
Williams M.L., Coleman R.A., Placezk D., Grunfeld C. Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism. Biochim Biophys Acta 1991, 1096:162-169.
-
(1991)
Biochim Biophys Acta
, vol.1096
, pp. 162-169
-
-
Williams, M.L.1
Coleman, R.A.2
Placezk, D.3
Grunfeld, C.4
-
2
-
-
0027180936
-
From basketweave to barrier. Unifying concepts for the pathogenesis of the disorders of cornification
-
Williams M.L., Elias P.M. From basketweave to barrier. Unifying concepts for the pathogenesis of the disorders of cornification. Arch Dermatol 1993, 129:626-629.
-
(1993)
Arch Dermatol
, vol.129
, pp. 626-629
-
-
Williams, M.L.1
Elias, P.M.2
-
3
-
-
33845308573
-
The skin barrier in healthy and diseased state
-
Bouwstra J.A., Ponec M. The skin barrier in healthy and diseased state. Biochim Biophys Acta 2006, 1758:2080-2095.
-
(2006)
Biochim Biophys Acta
, vol.1758
, pp. 2080-2095
-
-
Bouwstra, J.A.1
Ponec, M.2
-
4
-
-
36048949627
-
Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders
-
Schmuth M., Gruber R., PM E., Williams M. Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders. Adv Dermatol 2007, 23:231-256.
-
(2007)
Adv Dermatol
, vol.23
, pp. 231-256
-
-
Schmuth, M.1
Gruber, R.P.M.E.2
Williams, M.3
-
5
-
-
0023124882
-
Genetically transmitted, generalized disorders of cornification. The ichthyoses
-
Williams M.L., Elias P.M. Genetically transmitted, generalized disorders of cornification. The ichthyoses. Dermatol Clin 1987, 5:155-178.
-
(1987)
Dermatol Clin
, vol.5
, pp. 155-178
-
-
Williams, M.L.1
Elias, P.M.2
-
6
-
-
33746097414
-
Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases
-
Akiyama M. Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases. Arch Dermatol 2006, 142:914-918.
-
(2006)
Arch Dermatol
, vol.142
, pp. 914-918
-
-
Akiyama, M.1
-
7
-
-
0033781690
-
Origin of the corneocyte lipid envelope (CLE): observations in harlequin ichthyosis and cultured human keratinocytes
-
Elias P.M., Fartasch M., Crumrine D., Behne M., Uchida Y., Holleran W.M. Origin of the corneocyte lipid envelope (CLE): observations in harlequin ichthyosis and cultured human keratinocytes. J Invest Dermatol 2000, 115:765-769.
-
(2000)
J Invest Dermatol
, vol.115
, pp. 765-769
-
-
Elias, P.M.1
Fartasch, M.2
Crumrine, D.3
Behne, M.4
Uchida, Y.5
Holleran, W.M.6
-
8
-
-
0025020601
-
Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: variable morphology and structural protein expression and a defect in lamellar granules
-
Dale B.A., Holbrook K.A., Fleckman P., Kimball J.R., Brumbaugh S., Sybert V.P. Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: variable morphology and structural protein expression and a defect in lamellar granules. J Invest Dermatol 1990, 94:6-18.
-
(1990)
J Invest Dermatol
, vol.94
, pp. 6-18
-
-
Dale, B.A.1
Holbrook, K.A.2
Fleckman, P.3
Kimball, J.R.4
Brumbaugh, S.5
Sybert, V.P.6
-
9
-
-
2342637194
-
Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis)
-
Schmuth M., Fluhr J.W., Crumrine D.C., et al. Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). J Invest Dermatol 2004, 122:909-922.
-
(2004)
J Invest Dermatol
, vol.122
, pp. 909-922
-
-
Schmuth, M.1
Fluhr, J.W.2
Crumrine, D.C.3
-
10
-
-
0036617684
-
Basis for the permeability barrier abnormality in lamellar ichthyosis
-
Elias P.M., Schmuth M., Uchida Y., et al. Basis for the permeability barrier abnormality in lamellar ichthyosis. Exp Dermatol 2002, 11:248-256.
-
(2002)
Exp Dermatol
, vol.11
, pp. 248-256
-
-
Elias, P.M.1
Schmuth, M.2
Uchida, Y.3
-
11
-
-
0034783306
-
Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis
-
Schmuth M., Yosipovitch G., Williams M.L., et al. Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis. J Invest Dermatol 2001, 117:837-847.
-
(2001)
J Invest Dermatol
, vol.117
, pp. 837-847
-
-
Schmuth, M.1
Yosipovitch, G.2
Williams, M.L.3
-
12
-
-
79959249198
-
Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function
-
Gruber R., Elias P.M., Crumrine D., et al. Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. Am J Pathol 2011, 178:2252-2263.
-
(2011)
Am J Pathol
, vol.178
, pp. 2252-2263
-
-
Gruber, R.1
Elias, P.M.2
Crumrine, D.3
-
13
-
-
84923826134
-
-
S. Kargar AG, Basel
-
Elias P., Williams M., Crumrine D., Schmuth M. Ichthyoses-clinical, biochemical, pathogenic, and diagnostic assessment 2010, S. Kargar AG, Basel.
-
(2010)
Ichthyoses-clinical, biochemical, pathogenic, and diagnostic assessment
-
-
Elias, P.1
Williams, M.2
Crumrine, D.3
Schmuth, M.4
-
14
-
-
44949151890
-
Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism
-
Elias P.M., Williams M.L., Holleran W.M., Jiang Y.J., Schmuth M. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism. J Lipid Res 2008, 49:697-714.
-
(2008)
J Lipid Res
, vol.49
, pp. 697-714
-
-
Elias, P.M.1
Williams, M.L.2
Holleran, W.M.3
Jiang, Y.J.4
Schmuth, M.5
-
16
-
-
0034884697
-
Inherited disorders of cholesterol biosynthesis
-
Haas D., Kelley R.I., Hoffmann G.F. Inherited disorders of cholesterol biosynthesis. Neuropediatrics 2001, 32:113-122.
-
(2001)
Neuropediatrics
, vol.32
, pp. 113-122
-
-
Haas, D.1
Kelley, R.I.2
Hoffmann, G.F.3
-
18
-
-
0037387601
-
Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes
-
Herman G.E. Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. Hum Mol Genet 2003, 12(Spec No 1):R75-R88.
-
(2003)
Hum Mol Genet
, vol.12
, Issue.SPEC NO 1
-
-
Herman, G.E.1
-
19
-
-
0345255889
-
Human malformation syndromes due to inborn errors of cholesterol synthesis
-
Porter F.D. Human malformation syndromes due to inborn errors of cholesterol synthesis. Curr Opin Pediatr 2003, 15:607-613.
-
(2003)
Curr Opin Pediatr
, vol.15
, pp. 607-613
-
-
Porter, F.D.1
-
20
-
-
78650909128
-
Malformation syndromes caused by disorders of cholesterol synthesis
-
Porter F.D., Herman G.E. Malformation syndromes caused by disorders of cholesterol synthesis. J Lipid Res 2011, 52:6-34.
-
(2011)
J Lipid Res
, vol.52
, pp. 6-34
-
-
Porter, F.D.1
Herman, G.E.2
-
22
-
-
10744228153
-
Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency
-
Krakowiak P.A., Wassif C.A., Kratz L., et al. Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. Hum Mol Genet 2003, 12:1631-1641.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1631-1641
-
-
Krakowiak, P.A.1
Wassif, C.A.2
Kratz, L.3
-
23
-
-
79956142214
-
Mutations in the SC4MOL gene encoding a novel methyl sterol oxidase cause psoriasiform dermatitis, microcephaly and developmental delay
-
Available at:
-
He M., Kratz L., Michel L.J., et al. Mutations in the SC4MOL gene encoding a novel methyl sterol oxidase cause psoriasiform dermatitis, microcephaly and developmental delay. Nat Precedings 2008, Available at:. http://hdl.handle.net/10101/npre.2008.2163.1.
-
(2008)
Nat Precedings
-
-
He, M.1
Kratz, L.2
Michel, L.J.3
-
24
-
-
0026284989
-
The regulation and role of epidermal lipid synthesis
-
Feingold K.R. The regulation and role of epidermal lipid synthesis. Adv Lipid Res 1991, 24:57-82.
-
(1991)
Adv Lipid Res
, vol.24
, pp. 57-82
-
-
Feingold, K.R.1
-
25
-
-
70349485265
-
Differential effects of cholesterol and desmosterol on the ligand binding function of the hippocampal serotonin(1A) receptor: implications in desmosterolosis
-
Singh P., Saxena R., Paila Y.D., Jafurulla M., Chattopadhyay A. Differential effects of cholesterol and desmosterol on the ligand binding function of the hippocampal serotonin(1A) receptor: implications in desmosterolosis. Biochim Biophys Acta 2009, 1788:2169-2173.
-
(2009)
Biochim Biophys Acta
, vol.1788
, pp. 2169-2173
-
-
Singh, P.1
Saxena, R.2
Paila, Y.D.3
Jafurulla, M.4
Chattopadhyay, A.5
-
26
-
-
66549124438
-
Desmosterol can replace cholesterol in sustaining cell proliferation and regulating the SREBP pathway in a sterol-Delta24-reductase-deficient cell line
-
Rodriguez-Acebes S., de la Cueva P., Fernandez-Hernando C., et al. Desmosterol can replace cholesterol in sustaining cell proliferation and regulating the SREBP pathway in a sterol-Delta24-reductase-deficient cell line. Biochem J 2009, 420:305-315.
-
(2009)
Biochem J
, vol.420
, pp. 305-315
-
-
Rodriguez-Acebes, S.1
de la Cueva, P.2
Fernandez-Hernando, C.3
-
27
-
-
51649118903
-
Interfacial behavior of cholesterol, ergosterol, and lanosterol in mixtures with DPPC and DMPC
-
Sabatini K., Mattila J.P., Kinnunen P.K. Interfacial behavior of cholesterol, ergosterol, and lanosterol in mixtures with DPPC and DMPC. Biophys J 2008, 95:2340-2355.
-
(2008)
Biophys J
, vol.95
, pp. 2340-2355
-
-
Sabatini, K.1
Mattila, J.P.2
Kinnunen, P.K.3
-
28
-
-
66349136255
-
Are side-chain oxidized oxysterols regulators also in vivo?
-
Bjorkhem I. Are side-chain oxidized oxysterols regulators also in vivo?. J Lipid Res 2009, 50(suppl):S213-S218.
-
(2009)
J Lipid Res
, vol.50
, Issue.SUPPL.
-
-
Bjorkhem, I.1
-
29
-
-
0344953585
-
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis
-
Cooper M.K., Wassif C.A., Krakowiak P.A., et al. A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. Nat Genet 2003, 33:508-513.
-
(2003)
Nat Genet
, vol.33
, pp. 508-513
-
-
Cooper, M.K.1
Wassif, C.A.2
Krakowiak, P.A.3
-
30
-
-
33646693868
-
X-chromosome inactivation: role in skin disease expression
-
Happle R. X-chromosome inactivation: role in skin disease expression. Acta Paediatr Suppl 2006, 95:16-23.
-
(2006)
Acta Paediatr Suppl
, vol.95
, pp. 16-23
-
-
Happle, R.1
-
31
-
-
44849131929
-
Feedback regulation of cholesterol synthesis: sterol-accelerated ubiquitination and degradation of HMG CoA reductase
-
DeBose-Boyd R.A. Feedback regulation of cholesterol synthesis: sterol-accelerated ubiquitination and degradation of HMG CoA reductase. Cell Res 2008, 18:609-621.
-
(2008)
Cell Res
, vol.18
, pp. 609-621
-
-
DeBose-Boyd, R.A.1
-
32
-
-
0033037717
-
Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata
-
Derry J.M., Gormally E., Means G.D., et al. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nat Genet 1999, 22:286-290.
-
(1999)
Nat Genet
, vol.22
, pp. 286-290
-
-
Derry, J.M.1
Gormally, E.2
Means, G.D.3
-
33
-
-
0032987971
-
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome
-
Braverman N., Lin P., Moebius F.F., et al. Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome. Nat Genet 1999, 22:291-294.
-
(1999)
Nat Genet
, vol.22
, pp. 291-294
-
-
Braverman, N.1
Lin, P.2
Moebius, F.F.3
-
34
-
-
0034597344
-
Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata
-
Ikegawa S., Ohashi H., Ogata T., et al. Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata. Am J Med Genet 2000, 94:300-305.
-
(2000)
Am J Med Genet
, vol.94
, pp. 300-305
-
-
Ikegawa, S.1
Ohashi, H.2
Ogata, T.3
-
35
-
-
0033950130
-
CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase
-
Grange D.K., Kratz L.E., Braverman N.E., Kelley R.I. CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase. Am J Med Genet 2000, 90:328-335.
-
(2000)
Am J Med Genet
, vol.90
, pp. 328-335
-
-
Grange, D.K.1
Kratz, L.E.2
Braverman, N.E.3
Kelley, R.I.4
-
36
-
-
0022416999
-
Lyonization and the lines of Blaschko
-
Happle R. Lyonization and the lines of Blaschko. Hum Genet 1985, 70:200-206.
-
(1985)
Hum Genet
, vol.70
, pp. 200-206
-
-
Happle, R.1
-
37
-
-
0018611617
-
X-linked dominant chondrodysplasia punctata. Review of literature and report of a case
-
Happle R. X-linked dominant chondrodysplasia punctata. Review of literature and report of a case. Hum Genet 1979, 53:65-73.
-
(1979)
Hum Genet
, vol.53
, pp. 65-73
-
-
Happle, R.1
-
38
-
-
0028353820
-
X-linked dominant ichthyosis with peroxisomal deficiency. An ultrastructural and ultracytochemical study of the Conradi-Hunermann syndrome and its murine homologue, the bare patches mouse
-
Emami S., Hanley K.P., Esterly N.B., Daniallinia N., Williams M.L. X-linked dominant ichthyosis with peroxisomal deficiency. An ultrastructural and ultracytochemical study of the Conradi-Hunermann syndrome and its murine homologue, the bare patches mouse. Arch Dermatol 1994, 130:325-336.
-
(1994)
Arch Dermatol
, vol.130
, pp. 325-336
-
-
Emami, S.1
Hanley, K.P.2
Esterly, N.B.3
Daniallinia, N.4
Williams, M.L.5
-
39
-
-
0032834914
-
Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: a new congenital photosensitivity syndrome
-
Anstey A.V., Ryan A., Rhodes L.E., et al. Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: a new congenital photosensitivity syndrome. Br J Dermatol 1999, 141:406-414.
-
(1999)
Br J Dermatol
, vol.141
, pp. 406-414
-
-
Anstey, A.V.1
Ryan, A.2
Rhodes, L.E.3
-
40
-
-
27544490417
-
Recent insights into the Smith-Lemli-Opitz syndrome
-
Yu H., Patel S.B. Recent insights into the Smith-Lemli-Opitz syndrome. Clin Genet 2005, 68:383-391.
-
(2005)
Clin Genet
, vol.68
, pp. 383-391
-
-
Yu, H.1
Patel, S.B.2
-
41
-
-
0026739410
-
Sonophoresis. II. Examination of the mechanism(s) of ultrasound-enhanced transdermal drug delivery
-
Bommannan D., Menon G.K., Okuyama H., Elias P.M., Guy R.H. Sonophoresis. II. Examination of the mechanism(s) of ultrasound-enhanced transdermal drug delivery. Pharm Res 1992, 9:1043-1047.
-
(1992)
Pharm Res
, vol.9
, pp. 1043-1047
-
-
Bommannan, D.1
Menon, G.K.2
Okuyama, H.3
Elias, P.M.4
Guy, R.H.5
-
42
-
-
0024336173
-
Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hunermann syndrome
-
Clayton P.T., Kalter D.C., Atherton D.J., Besley G.T., Broadhead D.M. Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hunermann syndrome. J Inherit Metab Dis 1989, 12(suppl 2):358-360.
-
(1989)
J Inherit Metab Dis
, vol.12
, Issue.SUPPL. 2
, pp. 358-360
-
-
Clayton, P.T.1
Kalter, D.C.2
Atherton, D.J.3
Besley, G.T.4
Broadhead, D.M.5
-
43
-
-
0029895247
-
Metabolic approaches to enhance transdermal drug delivery. 1. Effect of lipid synthesis inhibitors
-
Tsai J.C., Guy R.H., Thornfeldt C.R., Gao W.N., Feingold K.R., Elias P.M. Metabolic approaches to enhance transdermal drug delivery. 1. Effect of lipid synthesis inhibitors. J Pharm Sci 1996, 85:643-648.
-
(1996)
J Pharm Sci
, vol.85
, pp. 643-648
-
-
Tsai, J.C.1
Guy, R.H.2
Thornfeldt, C.R.3
Gao, W.N.4
Feingold, K.R.5
Elias, P.M.6
-
44
-
-
33746095457
-
The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols
-
Tint G.S., Yu H., Shang Q., Xu G., Patel S.B. The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols. J Lipid Res 2006, 47:1535-1541.
-
(2006)
J Lipid Res
, vol.47
, pp. 1535-1541
-
-
Tint, G.S.1
Yu, H.2
Shang, Q.3
Xu, G.4
Patel, S.B.5
-
45
-
-
34548253482
-
Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome)
-
Marcos J., Shackleton C.H., Buddhikot M.M., Porter F.D., Watson G.L. Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome). Steroids 2007, 72:802-808.
-
(2007)
Steroids
, vol.72
, pp. 802-808
-
-
Marcos, J.1
Shackleton, C.H.2
Buddhikot, M.M.3
Porter, F.D.4
Watson, G.L.5
-
46
-
-
19044379648
-
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase
-
Brunetti-Pierri N., Corso G., et al. Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. Am J Hum Genet 2002, 71:952-958.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 952-958
-
-
Brunetti-Pierri, N.1
Corso, G.2
-
47
-
-
34848922136
-
Clinical phenotype of lathosterolosis
-
Rossi M., D'Armiento M., Parisi I., et al. Clinical phenotype of lathosterolosis. Am J Med Genet A 2007, 143A:2371-2381.
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 2371-2381
-
-
Rossi, M.1
D'Armiento, M.2
Parisi, I.3
-
48
-
-
77954692672
-
Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency
-
Jiang X.S., Backlund P.S., Wassif C.A., Yergey A.L., Porter F.D. Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency. Mol Cell Proteomics 2010, 9:1461-1475.
-
(2010)
Mol Cell Proteomics
, vol.9
, pp. 1461-1475
-
-
Jiang, X.S.1
Backlund, P.S.2
Wassif, C.A.3
Yergey, A.L.4
Porter, F.D.5
-
49
-
-
0037114662
-
Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay
-
Andersson H.C., Kratz L., Kelley R. Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay. Am J Med Genet 2002, 113:315-319.
-
(2002)
Am J Med Genet
, vol.113
, pp. 315-319
-
-
Andersson, H.C.1
Kratz, L.2
Kelley, R.3
-
50
-
-
0021678861
-
Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis
-
Elias P.M., Williams M.L., Maloney M.E., et al. Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis. J Clin Invest 1984, 74:1414-1421.
-
(1984)
J Clin Invest
, vol.74
, pp. 1414-1421
-
-
Elias, P.M.1
Williams, M.L.2
Maloney, M.E.3
-
51
-
-
0019842473
-
Steroid sulfatase, X-linked ichthyosis, and stratum corneum cell cohesion
-
Epstein E.H., Williams M.L., Elias P.M. Steroid sulfatase, X-linked ichthyosis, and stratum corneum cell cohesion. Arch Dermatol 1981, 117:761-763.
-
(1981)
Arch Dermatol
, vol.117
, pp. 761-763
-
-
Epstein, E.H.1
Williams, M.L.2
Elias, P.M.3
-
52
-
-
0024166584
-
Metabolism of 3H-dehydroepiandrosterone sulphate by subjects with steroid sulphatase deficiency
-
Bergner E.A., Shapiro L.J. Metabolism of 3H-dehydroepiandrosterone sulphate by subjects with steroid sulphatase deficiency. J Inherit Metab Dis 1988, 11:403-415.
-
(1988)
J Inherit Metab Dis
, vol.11
, pp. 403-415
-
-
Bergner, E.A.1
Shapiro, L.J.2
-
53
-
-
0019783953
-
X-linked ichthyosis: increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein
-
Epstein E.H., Krauss R.M., Shackleton C.H. X-linked ichthyosis: increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein. Science 1981, 214:659-660.
-
(1981)
Science
, vol.214
, pp. 659-660
-
-
Epstein, E.H.1
Krauss, R.M.2
Shackleton, C.H.3
-
54
-
-
0021913336
-
Human stratum corneum polar lipids and desquamation
-
Long S.A., Wertz P.W., Strauss J.S., Downing D.T. Human stratum corneum polar lipids and desquamation. Arch Dermatol Res 1985, 277:284-287.
-
(1985)
Arch Dermatol Res
, vol.277
, pp. 284-287
-
-
Long, S.A.1
Wertz, P.W.2
Strauss, J.S.3
Downing, D.T.4
-
55
-
-
0022580712
-
Lipid composition of cohesive and desquamated corneocytes from mouse ear skin
-
Ranasinghe A.W., Wertz P.W., Downing D.T., Mackenzie I.C. Lipid composition of cohesive and desquamated corneocytes from mouse ear skin. J Invest Dermatol 1986, 86:187-190.
-
(1986)
J Invest Dermatol
, vol.86
, pp. 187-190
-
-
Ranasinghe, A.W.1
Wertz, P.W.2
Downing, D.T.3
Mackenzie, I.C.4
-
56
-
-
0019823367
-
Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis
-
Williams M.L., Elias P.M. Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis. J Clin Invest 1981, 68:1404-1410.
-
(1981)
J Clin Invest
, vol.68
, pp. 1404-1410
-
-
Williams, M.L.1
Elias, P.M.2
-
57
-
-
10744223838
-
Basis for abnormal desquamation and permeability barrier dysfunction in RXLI
-
Elias P.M., 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
-
58
-
-
0031737359
-
Recessive x-linked ichthyosis: role of cholesterol-sulfate accumulation in the barrier abnormality
-
Zettersten E., Man M.Q., Sato J., et al. Recessive x-linked ichthyosis: role of cholesterol-sulfate accumulation in the barrier abnormality. J Invest Dermatol 1998, 111:784-790.
-
(1998)
J Invest Dermatol
, vol.111
, pp. 784-790
-
-
Zettersten, E.1
Man, M.Q.2
Sato, J.3
-
59
-
-
0013993094
-
The ichthyosiform dermatoses. II. Autoradiographic studies of epidermal proliferation
-
Frost P., Weinstein G.D., Van Scott E.J. The ichthyosiform dermatoses. II. Autoradiographic studies of epidermal proliferation. J Invest Dermatol 1966, 47:561-567.
-
(1966)
J Invest Dermatol
, vol.47
, pp. 561-567
-
-
Frost, P.1
Weinstein, G.D.2
Van Scott, E.J.3
-
60
-
-
0034128648
-
Stratum corneum tryptic enzyme in normal epidermis: a missing link in the desquamation process?
-
Ekholm I.E., Brattsand M., Egelrud T. Stratum corneum tryptic enzyme in normal epidermis: a missing link in the desquamation process?. J Invest Dermatol 2000, 114:56-63.
-
(2000)
J Invest Dermatol
, vol.114
, pp. 56-63
-
-
Ekholm, I.E.1
Brattsand, M.2
Egelrud, T.3
-
61
-
-
0031879094
-
Cholesterol sulfate inhibits proteases that are involved in desquamation of stratum corneum
-
Sato J., Denda M., Nakanishi J., Nomura J., Koyama J. Cholesterol sulfate inhibits proteases that are involved in desquamation of stratum corneum. J Invest Dermatol 1998, 111:189-193.
-
(1998)
J Invest Dermatol
, vol.111
, pp. 189-193
-
-
Sato, J.1
Denda, M.2
Nakanishi, J.3
Nomura, J.4
Koyama, J.5
-
62
-
-
0026264986
-
Lipids in normal and pathological desquamation
-
Williams M.L. Lipids in normal and pathological desquamation. Adv Lipid Res 1991, 24:211-262.
-
(1991)
Adv Lipid Res
, vol.24
, pp. 211-262
-
-
Williams, M.L.1
-
63
-
-
0041621569
-
PH directly regulates epidermal permeability barrier homeostasis, and stratum corneum integrity/cohesion
-
Hachem J.P., Crumrine D., Fluhr J., Brown B.E., Feingold K.R., Elias P.M. pH directly regulates epidermal permeability barrier homeostasis, and stratum corneum integrity/cohesion. J Invest Dermatol 2003, 121:345-353.
-
(2003)
J Invest Dermatol
, vol.121
, pp. 345-353
-
-
Hachem, J.P.1
Crumrine, D.2
Fluhr, J.3
Brown, B.E.4
Feingold, K.R.5
Elias, P.M.6
-
64
-
-
4344587008
-
Increased stratum corneum pH promotes activation and release of primary cytokines from the stratum corneum attributable to activation of serine proteases
-
Hachem J.P., Fowler A., Behne M., Fluhr J., Feingold K., Elias P. Increased stratum corneum pH promotes activation and release of primary cytokines from the stratum corneum attributable to activation of serine proteases. J Invest Dermatol 2002, 119:258.
-
(2002)
J Invest Dermatol
, vol.119
, pp. 258
-
-
Hachem, J.P.1
Fowler, A.2
Behne, M.3
Fluhr, J.4
Feingold, K.5
Elias, P.6
-
65
-
-
75549083023
-
Acute acidification of stratum corneum membrane domains using polyhydroxyl acids improves lipid processing and inhibits degradation of corneodesmosomes
-
Hachem J.P., Roelandt T., Schurer N., et al. Acute acidification of stratum corneum membrane domains using polyhydroxyl acids improves lipid processing and inhibits degradation of corneodesmosomes. J Invest Dermatol 2010, 130:500-510.
-
(2010)
J Invest Dermatol
, vol.130
, pp. 500-510
-
-
Hachem, J.P.1
Roelandt, T.2
Schurer, N.3
-
66
-
-
0031687460
-
The pH gradient over the stratum corneum differs in X-linked recessive and autosomal dominant ichthyosis: a clue to the molecular origin of the "acid skin mantle"?
-
Ohman H., Vahlquist A. The pH gradient over the stratum corneum differs in X-linked recessive and autosomal dominant ichthyosis: a clue to the molecular origin of the "acid skin mantle"?. J Invest Dermatol 1998, 111:674-677.
-
(1998)
J Invest Dermatol
, vol.111
, pp. 674-677
-
-
Ohman, H.1
Vahlquist, A.2
-
68
-
-
0023103442
-
Stratum corneum lipid liposomes: calcium-induced transformation into lamellar sheets
-
Abraham W., Wertz P.W., Landmann L., Downing D.T. Stratum corneum lipid liposomes: calcium-induced transformation into lamellar sheets. J Invest Dermatol 1987, 88:212-214.
-
(1987)
J Invest Dermatol
, vol.88
, pp. 212-214
-
-
Abraham, W.1
Wertz, P.W.2
Landmann, L.3
Downing, D.T.4
-
69
-
-
0033547787
-
A new model system for lipid interactions in stratum corneum vesicles: effects of lipid composition, calcium, and pH
-
Hatfield R.M., Fung L.W. A new model system for lipid interactions in stratum corneum vesicles: effects of lipid composition, calcium, and pH. Biochemistry 1999, 38:784-791.
-
(1999)
Biochemistry
, vol.38
, pp. 784-791
-
-
Hatfield, R.M.1
Fung, L.W.2
-
70
-
-
77955551313
-
Ichthyosis in Sjogren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion
-
Rizzo W.B., S'Aulis D., Jennings M.A., Crumrine D.A., Williams M.L., Elias P.M. Ichthyosis in Sjogren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion. Arch Dermatol Res 2010, 302:443-451.
-
(2010)
Arch Dermatol Res
, vol.302
, pp. 443-451
-
-
Rizzo, W.B.1
S'Aulis, D.2
Jennings, M.A.3
Crumrine, D.A.4
Williams, M.L.5
Elias, P.M.6
-
71
-
-
77956877504
-
Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome
-
Uchida Y., Cho Y., Moradian S., et al. Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome. J Invest Dermatol 2010, 130:2497-2499.
-
(2010)
J Invest Dermatol
, vol.130
, pp. 2497-2499
-
-
Uchida, Y.1
Cho, Y.2
Moradian, S.3
-
72
-
-
84896725167
-
Abnormalities in ultrastructure of epidermal lamellar bodies and corneocyte lipid envelope in Refsum disease
-
Menon E., Orso E., Schmitz G., Crumrine D., Elias P. Abnormalities in ultrastructure of epidermal lamellar bodies and corneocyte lipid envelope in Refsum disease. Society for Investigative Dermatology Annual Meeting; 2011; Phoenix, AZ 2011, S52.
-
(2011)
Society for Investigative Dermatology Annual Meeting; 2011; Phoenix, AZ
-
-
Menon, E.1
Orso, E.2
Schmitz, G.3
Crumrine, D.4
Elias, P.5
-
73
-
-
84873435591
-
Ichthyosis prematurity syndrome: lipid metabolic abnormalities lead to an epidermal barrier defect and predispose to atopy
-
Khnykin D., Crumrine D., Uchida Y., et al. Ichthyosis prematurity syndrome: lipid metabolic abnormalities lead to an epidermal barrier defect and predispose to atopy. SID Annual Meeting 2011; 2011; Phoenix: JID 2011, S59.
-
(2011)
SID Annual Meeting 2011; 2011; Phoenix: JID
-
-
Khnykin, D.1
Crumrine, D.2
Uchida, Y.3
-
74
-
-
66149155333
-
Autosomal recessive congenital ichthyosis
-
Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol 2009, 129:1319-1321.
-
(2009)
J Invest Dermatol
, vol.129
, pp. 1319-1321
-
-
Fischer, J.1
-
75
-
-
37049024066
-
PPAR and LXR activators regulate ABCA12 expression in human keratinocytes
-
Jiang Y.J., Lu B., Kim P., et al. PPAR and LXR activators regulate ABCA12 expression in human keratinocytes. J Invest Dermatol 2008, 128:104-109.
-
(2008)
J Invest Dermatol
, vol.128
, pp. 104-109
-
-
Jiang, Y.J.1
Lu, B.2
Kim, P.3
-
76
-
-
0030012306
-
Optimization of physiological lipid mixtures for barrier repair
-
Man M.Q., Feingold K.R., Thornfeldt C.R., Elias P.M. Optimization of physiological lipid mixtures for barrier repair. J Invest Dermatol 1996, 106:1096-1101.
-
(1996)
J Invest Dermatol
, vol.106
, pp. 1096-1101
-
-
Man, M.Q.1
Feingold, K.R.2
Thornfeldt, C.R.3
Elias, P.M.4
-
77
-
-
68249128695
-
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome
-
Klar J., Schweiger M., Zimmerman R., et al. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. Am J Hum Genet 2009, 85:248-253.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 248-253
-
-
Klar, J.1
Schweiger, M.2
Zimmerman, R.3
-
79
-
-
33644769281
-
Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy
-
Correa-Cerro L.S., Wassif C.A., Kratz L., et al. Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. Hum Mol Genet 2006, 15:839-851.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 839-851
-
-
Correa-Cerro, L.S.1
Wassif, C.A.2
Kratz, L.3
-
80
-
-
32844454617
-
DHCR24 gene knockout mice demonstrate lethal dermopathy with differentiation and maturation defects in the epidermis
-
Mirza R., Hayasaka S., Takagishi Y., et al. DHCR24 gene knockout mice demonstrate lethal dermopathy with differentiation and maturation defects in the epidermis. J Invest Dermatol 2006, 126:638-647.
-
(2006)
J Invest Dermatol
, vol.126
, pp. 638-647
-
-
Mirza, R.1
Hayasaka, S.2
Takagishi, Y.3
-
81
-
-
69849095498
-
Requirement of DHCR24 for postnatal development of epidermis and hair follicles in mice
-
Mirza R., Qiao S., Murata Y., Seo H. Requirement of DHCR24 for postnatal development of epidermis and hair follicles in mice. Am J Dermatopathol 2009, 31:446-452.
-
(2009)
Am J Dermatopathol
, vol.31
, pp. 446-452
-
-
Mirza, R.1
Qiao, S.2
Murata, Y.3
Seo, H.4
-
82
-
-
77951092696
-
Hair growth defects in Insig-deficient mice caused by cholesterol precursor accumulation and reversed by simvastatin
-
Evers B.M., Farooqi M.S., Shelton J.M., et al. Hair growth defects in Insig-deficient mice caused by cholesterol precursor accumulation and reversed by simvastatin. J Invest Dermatol 2010, 130:1237-1248.
-
(2010)
J Invest Dermatol
, vol.130
, pp. 1237-1248
-
-
Evers, B.M.1
Farooqi, M.S.2
Shelton, J.M.3
-
83
-
-
33645473649
-
Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease
-
Holleran W.M., Ziegler S.G., Goker-Alpan O., et al. Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease. Clin Genet 2006, 69:355-357.
-
(2006)
Clin Genet
, vol.69
, pp. 355-357
-
-
Holleran, W.M.1
Ziegler, S.G.2
Goker-Alpan, O.3
-
84
-
-
9044236528
-
Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease
-
Sidransky E., Fartasch M., Lee R.E., et al. Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease. Pediatr Res 1996, 39:134-141.
-
(1996)
Pediatr Res
, vol.39
, pp. 134-141
-
-
Sidransky, E.1
Fartasch, M.2
Lee, R.E.3
-
85
-
-
0028331151
-
Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease
-
Holleran W.M., Ginns E.I., Menon G.K., et al. Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest 1994, 93:1756-1764.
-
(1994)
J Clin Invest
, vol.93
, pp. 1756-1764
-
-
Holleran, W.M.1
Ginns, E.I.2
Menon, G.K.3
-
86
-
-
34447511625
-
Keratinocyte-specific expression of fatty acid transport protein 4 rescues the wrinkle-free phenotype in Slc27a4/Fatp4 mutant mice
-
Moulson C.L., Lin M.H., White J.M., Newberry E.P., Davidson N.O., Miner J.H. Keratinocyte-specific expression of fatty acid transport protein 4 rescues the wrinkle-free phenotype in Slc27a4/Fatp4 mutant mice. J Biol Chem 2007, 282:15912-15920.
-
(2007)
J Biol Chem
, vol.282
, pp. 15912-15920
-
-
Moulson, C.L.1
Lin, M.H.2
White, J.M.3
Newberry, E.P.4
Davidson, N.O.5
Miner, J.H.6
-
87
-
-
33747332788
-
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome)
-
Demerjian M., Crumrine D.A., Milstone L.M., Williams M.L., Elias P.M. Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). J Invest Dermatol 2006, 126:2032-2038.
-
(2006)
J Invest Dermatol
, vol.126
, pp. 2032-2038
-
-
Demerjian, M.1
Crumrine, D.A.2
Milstone, L.M.3
Williams, M.L.4
Elias, P.M.5
-
88
-
-
77951212321
-
Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin bar rier defect in mice lacking comparative gene identification-58 (CGI-58)
-
Radner F.P., Streith I.E., Schoiswohl G., et al. Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin bar rier defect in mice lacking comparative gene identification-58 (CGI-58). J Biol Chem 2010, 285:7300-7311.
-
(2010)
J Biol Chem
, vol.285
, pp. 7300-7311
-
-
Radner, F.P.1
Streith, I.E.2
Schoiswohl, G.3
-
89
-
-
74749109402
-
Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome
-
Ujihara M., Nakajima K., Yamamoto M., et al. Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome. J Dermatol Sci 2010, 57:102-107.
-
(2010)
J Dermatol Sci
, vol.57
, pp. 102-107
-
-
Ujihara, M.1
Nakajima, K.2
Yamamoto, M.3
-
90
-
-
33845231217
-
Sjogren-Larsson syndrome: Molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency
-
Rizzo W.B. Sjogren-Larsson syndrome: Molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency. Mol Genet Metab 2007, 90:1-9.
-
(2007)
Mol Genet Metab
, vol.90
, pp. 1-9
-
-
Rizzo, W.B.1
-
91
-
-
79959906412
-
Lipoxygenases mediate the effect of essential fatty acid in skin barrier formation: A proposed role in releasing omega-hydroxyceramide for construction of the corneocyte lipid envelope
-
Zheng Y., Yin H., Boeglin W.E., et al. Lipoxygenases mediate the effect of essential fatty acid in skin barrier formation: A proposed role in releasing omega-hydroxyceramide for construction of the corneocyte lipid envelope. J Biol Chem 2011, 286:24046-24056.
-
(2011)
J Biol Chem
, vol.286
, pp. 24046-24056
-
-
Zheng, Y.1
Yin, H.2
Boeglin, W.E.3
-
92
-
-
0026032460
-
The lovastatin-treated rodent: a new model of barrier disruption and epidermal hyperplasia
-
Feingold K.R., Man M.Q., Proksch E., Menon G.K., Brown B.E., Elias P.M. The lovastatin-treated rodent: a new model of barrier disruption and epidermal hyperplasia. J Invest Dermatol 1991, 96:201-209.
-
(1991)
J Invest Dermatol
, vol.96
, pp. 201-209
-
-
Feingold, K.R.1
Man, M.Q.2
Proksch, E.3
Menon, G.K.4
Brown, B.E.5
Elias, P.M.6
-
93
-
-
0026556697
-
Structural basis for the barrier abnormality following inhibition of HMG CoA reductase in murine epidermis
-
Menon G.K., Feingold K.R., Mao-Qiang M., Schaude M., Elias P.M. Structural basis for the barrier abnormality following inhibition of HMG CoA reductase in murine epidermis. J Invest Dermatol 1992, 98:209-219.
-
(1992)
J Invest Dermatol
, vol.98
, pp. 209-219
-
-
Menon, G.K.1
Feingold, K.R.2
Mao-Qiang, M.3
Schaude, M.4
Elias, P.M.5
-
94
-
-
80054755664
-
Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism
-
Paller A.S., van Steensel M.A., Rodriguez-Martin M., Sorrell J., Heath C., Crumrine D., et al. Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism. J Invest Dermatol 2011, 131:2242-2248.
-
(2011)
J Invest Dermatol
, vol.131
, pp. 2242-2248
-
-
Paller, A.S.1
van Steensel, M.A.2
Rodriguez-Martin, M.3
Sorrell, J.4
Heath, C.5
Crumrine, D.6
|