-
1
-
-
0034029917
-
Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics
-
Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Genome Res 2000, 10:703-713
-
(2000)
Genome Res
, vol.10
, pp. 703-713
-
-
Lai, C.H.1
Chou, C.Y.2
Ch'ang, L.Y.3
Liu, C.S.4
Lin, W.5
-
2
-
-
33646128723
-
Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman syndrome
-
Lass A, Zimmermann R, Haemmerle G, Riederer M, Schoiswohl G, Schweiger M, Kienesberger P, Strauss JG, Gorkiewicz G, Zechner R: Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman syndrome. Cell Metab 2006, 3:309-319
-
(2006)
Cell Metab
, vol.3
, pp. 309-319
-
-
Lass, A.1
Zimmermann, R.2
Haemmerle, G.3
Riederer, M.4
Schoiswohl, G.5
Schweiger, M.6
Kienesberger, P.7
Strauss, J.G.8
Gorkiewicz, G.9
Zechner, R.10
-
3
-
-
0034764272
-
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome
-
Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozguc M, Lathrop M, Prud'homme JF, Fischer J: Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 2001, 69:1002-1012
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1002-1012
-
-
Lefèvre, C.1
Jobard, F.2
Caux, F.3
Bouadjar, B.4
Karaduman, A.5
Heilig, R.6
Lakhdar, H.7
Wollenberg, A.8
Verret, J.L.9
Weissenbach, J.10
Ozguc, M.11
Lathrop, M.12
Prud'homme, J.F.13
Fischer, J.14
-
4
-
-
0242490136
-
Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome
-
Akiyama M, Sawamura D, Nomura Y, Sugawara M, Shimizu H: Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. J Invest Dermatol 2003, 121:1029-1034
-
(2003)
J Invest Dermatol
, vol.121
, pp. 1029-1034
-
-
Akiyama, M.1
Sawamura, D.2
Nomura, Y.3
Sugawara, M.4
Shimizu, H.5
-
5
-
-
4344652119
-
CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome
-
Caux F, Selma ZB, Laroche L, Prud'homme JF, Fischer J: CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome. Am J Med Genet A 2004, 129:214
-
(2004)
Am J Med Genet A
, vol.129
, pp. 214
-
-
Caux, F.1
Selma, Z.B.2
Laroche, L.3
Prud'homme, J.F.4
Fischer, J.5
-
6
-
-
21844475073
-
Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: An uncommon lipid storage disease
-
Schleinitz N, Fischer J, Sanchez A, Veit V, Harle JR, Pelissier JF: Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. Arch Dermatol 2005, 141:798-800
-
(2005)
Arch Dermatol
, vol.141
, pp. 798-800
-
-
Schleinitz, N.1
Fischer, J.2
Sanchez, A.3
Veit, V.4
Harle, J.R.5
Pelissier, J.F.6
-
7
-
-
26244465538
-
Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome
-
Pujol RM, Gilaberte M, Toll A, Florensa L, Lloreta J, Gonzalez-Ensenat MA, Fischer J, Azon A: Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome. Br J Dermatol 2005, 153:838-841
-
(2005)
Br J Dermatol
, vol.153
, pp. 838-841
-
-
Pujol, R.M.1
Gilaberte, M.2
Toll, A.3
Florensa, L.4
Lloreta, J.5
Gonzalez-Ensenat, M.A.6
Fischer, J.7
Azon, A.8
-
8
-
-
0016096382
-
Ichthyosiform dermatosis with systemic lipidosis
-
Dorfman ML, Hershko C, Eisenberg S, Sagher F: Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol 1974, 110:261-266
-
(1974)
Arch Dermatol
, vol.110
, pp. 261-266
-
-
Dorfman, M.L.1
Hershko, C.2
Eisenberg, S.3
Sagher, F.4
-
9
-
-
0016612085
-
Neutral-lipid storage disease: A new disorder of lipid metabolism
-
Chanarin I, Patel A, Slavin G, Wills EJ, Andrews TM, Stewart G: Neutral-lipid storage disease: a new disorder of lipid metabolism. Br Med J 1975, 1:553-555
-
(1975)
Br Med J
, vol.1
, pp. 553-555
-
-
Chanarin, I.1
Patel, A.2
Slavin, G.3
Wills, E.J.4
Andrews, T.M.5
Stewart, G.6
-
10
-
-
0037650937
-
Generalized disorders of cornification: The ichthyoses
-
Second Edition, Edited by WM Sams Jr, Lynch PJ. New York, Churchill Livingstone
-
Williams MLK, Lynch PJ: Generalized disorders of cornification: The ichthyoses. Principles and Practice of Dermatology, Second Edition, Edited by WM Sams Jr, Lynch PJ. New York, Churchill Livingstone, 1996. pp. 379-396
-
(1996)
Principles and Practice of Dermatology
, pp. 379-396
-
-
Williams, M.L.K.1
Lynch, P.J.2
-
11
-
-
0035111077
-
Dorfman-Chanarin syndrome (neutral lipid storage disease): New clinical features
-
Pena-Penabad C, Almagro M, Martinez W, Garcia-Silva J, Del Pozo J, Yebra MT, Sanchez-Manzano C, Fonseca E: Dorfman-Chanarin syndrome (neutral lipid storage disease): new clinical features. Br J Dermatol 2001, 144:430-432
-
(2001)
Br J Dermatol
, vol.144
, pp. 430-432
-
-
Pena-Penabad, C.1
Almagro, M.2
Martinez, W.3
Garcia-Silva, J.4
Del Pozo, J.5
Yebra, M.T.6
Sanchez-Manzano, C.7
Fonseca, E.8
-
12
-
-
24344448276
-
Stratum corneum defensive functions: An integrated view
-
Elias PM: Stratum corneum defensive functions: an integrated view. J Invest Dermatol 2005, 125:183-200
-
(2005)
J Invest Dermatol
, vol.125
, pp. 183-200
-
-
Elias, P.M.1
-
13
-
-
22144437692
-
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
-
Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arita K, Tsuji-Abe Y, Tabata N, Matsuoka K, Sasaki R, Sawamura D, Shimizu H: Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 2005, 115:1777-1784
-
(2005)
J Clin Invest
, vol.115
, pp. 1777-1784
-
-
Akiyama, M.1
Sugiyama-Nakagiri, Y.2
Sakai, K.3
McMillan, J.R.4
Goto, M.5
Arita, K.6
Tsuji-Abe, Y.7
Tabata, N.8
Matsuoka, K.9
Sasaki, R.10
Sawamura, D.11
Shimizu, H.12
-
14
-
-
19944413653
-
Beta defensin-3 engineered epidermis shows highly protective effect for bacterial infection
-
Sawamura D, Goto M, Shibaki A, Akiyama M, McMillan JR, Abiko Y, Shimizu H: Beta defensin-3 engineered epidermis shows highly protective effect for bacterial infection. Gene Ther 2005, 12:857-861
-
(2005)
Gene Ther
, vol.12
, pp. 857-861
-
-
Sawamura, D.1
Goto, M.2
Shibaki, A.3
Akiyama, M.4
McMillan, J.R.5
Abiko, Y.6
Shimizu, H.7
-
15
-
-
0033067751
-
Periderm cells form cornified cell envelope in their regression process during human epidermal development
-
Akiyama M, Smith LT, Yoneda K, Holbrook KA, Hohl D, Shimizu H: Periderm cells form cornified cell envelope in their regression process during human epidermal development. J Invest Dermatol 1999, 112:903-909
-
(1999)
J Invest Dermatol
, vol.112
, pp. 903-909
-
-
Akiyama, M.1
Smith, L.T.2
Yoneda, K.3
Holbrook, K.A.4
Hohl, D.5
Shimizu, H.6
-
16
-
-
0023679225
-
Neutral lipid storage disease with ichthyosis: Lipid content and metabolism of fibroblasts
-
Williams ML, Monger DJ, Rutherford SL, Hincenbergs M, Rehfeld SJ, Grunfeld C: Neutral lipid storage disease with ichthyosis: lipid content and metabolism of fibroblasts. J Inherit Metab Dis 1988, 11:131-143
-
(1988)
J Inherit Metab Dis
, vol.11
, pp. 131-143
-
-
Williams, M.L.1
Monger, D.J.2
Rutherford, S.L.3
Hincenbergs, M.4
Rehfeld, S.J.5
Grunfeld, C.6
-
17
-
-
0028834525
-
-
Hilaire N, Salvayre R, Thiers JC, Bonnaf é MJ, Nègre-Salvayre A: The turnover of cytoplasmic triacylglycerols in human fibroblasts involves two separate acyl chian length-dependent degradation pathways. J Biol Chem 1995, 270:27027-27034
-
Hilaire N, Salvayre R, Thiers JC, Bonnaf é MJ, Nègre-Salvayre A: The turnover of cytoplasmic triacylglycerols in human fibroblasts involves two separate acyl chian length-dependent degradation pathways. J Biol Chem 1995, 270:27027-27034
-
-
-
-
18
-
-
0025967453
-
Neutral lipid storage disease: A possible functional defect in phospholipid-linked triacylglycerol metabolism
-
Williams ML, Coleman RA, 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
-
19
-
-
0028012467
-
Cellular uptake and catabolism of high-density-lipoprotein triacylglycerol in human cultured fibroblasts: Degradation block in neural lipid storage disease
-
Hilaire N, Négre-Salvayre A, Salvayre R: Cellular uptake and catabolism of high-density-lipoprotein triacylglycerol in human cultured fibroblasts: degradation block in neural lipid storage disease. Biochem J 1994, 297:467-473
-
(1994)
Biochem J
, vol.297
, pp. 467-473
-
-
Hilaire, N.1
Négre-Salvayre, A.2
Salvayre, R.3
-
20
-
-
8944256087
-
Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts
-
Igal RA, Coleman RA: Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts. J Biol Chem 1996, 271:16644-16651
-
(1996)
J Biol Chem
, vol.271
, pp. 16644-16651
-
-
Igal, R.A.1
Coleman, R.A.2
-
21
-
-
0031883290
-
Neutral lipid storage disease: A genetic disorder with abnormalities in the regulation of phospholipid metabolism
-
Igal RA, Coleman RA: Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism. J Lipid Res 1998, 39:31-43
-
(1998)
J Lipid Res
, vol.39
, pp. 31-43
-
-
Igal, R.A.1
Coleman, R.A.2
-
22
-
-
0026540411
-
The alpha/beta hydrolase fold
-
Ollis DL, Cheah E, Cygler M, Dijkstra B, Frolow F, Franken SM, Harel M, Remington SJ, Silman I, Schrag J, Sussman JL, Verschueren KHG, Goldman A: The alpha/beta hydrolase fold. Protein Eng 1992, 5:197-211
-
(1992)
Protein Eng
, vol.5
, pp. 197-211
-
-
Ollis, D.L.1
Cheah, E.2
Cygler, M.3
Dijkstra, B.4
Frolow, F.5
Franken, S.M.6
Harel, M.7
Remington, S.J.8
Silman, I.9
Schrag, J.10
Sussman, J.L.11
Verschueren, K.H.G.12
Goldman, A.13
-
24
-
-
0032411227
-
Functional analysis of the Escherichia coli genome for members of the alpha/beta hydrolase family
-
Zhang L, Godzik A, Skolnick J, Fetrow JS: Functional analysis of the Escherichia coli genome for members of the alpha/beta hydrolase family. Fold Des 1998, 3:535-548
-
(1998)
Fold Des
, vol.3
, pp. 535-548
-
-
Zhang, L.1
Godzik, A.2
Skolnick, J.3
Fetrow, J.S.4
-
25
-
-
0032784276
-
alpha/beta Hydrolase fold enzymes: The family keeps growing
-
Nardini M, Dijkstra BW: alpha/beta Hydrolase fold enzymes: the family keeps growing. Curr Opin Struct Biol 1999, 9:732-737
-
(1999)
Curr Opin Struct Biol
, vol.9
, pp. 732-737
-
-
Nardini, M.1
Dijkstra, B.W.2
-
26
-
-
3142738035
-
CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome
-
Yamaguchi T, Omatsu N, Matsushita S, Osumi T: CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome. J Biol Chem 2004, 279:30490-30497
-
(2004)
J Biol Chem
, vol.279
, pp. 30490-30497
-
-
Yamaguchi, T.1
Omatsu, N.2
Matsushita, S.3
Osumi, T.4
-
27
-
-
0032750449
-
Coordinate assembly of lipids and enzyme proteins into epidermal lamellar bodies
-
Rassner U, Feingold KR, Crumrine DA, Elias PM: Coordinate assembly of lipids and enzyme proteins into epidermal lamellar bodies. Tissue Cell 1999, 31:489-498
-
(1999)
Tissue Cell
, vol.31
, pp. 489-498
-
-
Rassner, U.1
Feingold, K.R.2
Crumrine, D.A.3
Elias, P.M.4
-
28
-
-
0021806009
-
Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion
-
Elias PM, Williams ML: Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion. Arch Dermatol 1985, 121:1000-1008
-
(1985)
Arch Dermatol
, vol.121
, pp. 1000-1008
-
-
Elias, P.M.1
Williams, M.L.2
-
29
-
-
33747332788
-
Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome)
-
Demerjian M, Crumrine DA, Milstone LM, Williams ML, Elias PM: 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
-
30
-
-
0025020601
-
Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: Variable morphology and structural protein expression and a defect in lamellar granules
-
Dale BA, Holbrook KA, Fleckman P, Kimball JR, Brumbaugh S, Sybert VP: 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
-
31
-
-
0026685919
-
Abnormal lamellar granules in harlequin ichthyosis
-
Milner ME, O'Guin WM, Holbrook KA, Dale BA: Abnormal lamellar granules in harlequin ichthyosis. J Invest Dermatol 1992, 99:824-829
-
(1992)
J Invest Dermatol
, vol.99
, pp. 824-829
-
-
Milner, M.E.1
O'Guin, W.M.2
Holbrook, K.A.3
Dale, B.A.4
-
32
-
-
0028069212
-
Characteristic morphological abnormality of harlequin ichthyosis detected in amniotic fluid cells
-
Akiyama M, Kim D-K, Main DM, Otto CE, Holbrook KA: Characteristic morphological abnormality of harlequin ichthyosis detected in amniotic fluid cells. J Invest Dermatol 1994, 102:210-213
-
(1994)
J Invest Dermatol
, vol.102
, pp. 210-213
-
-
Akiyama, M.1
Kim, D.-K.2
Main, D.M.3
Otto, C.E.4
Holbrook, K.A.5
-
33
-
-
0024309727
-
Murine keratinocyte cultures grown at the air/medium interface synthesize stratum corneum lipids and "recycle" linoleate during differentiation
-
Madison KC, Swartzendruber DC, Wertz PW, Downing DT: Murine keratinocyte cultures grown at the air/medium interface synthesize stratum corneum lipids and "recycle" linoleate during differentiation. J Invest Dermatol 1989, 93:10-17
-
(1989)
J Invest Dermatol
, vol.93
, pp. 10-17
-
-
Madison, K.C.1
Swartzendruber, D.C.2
Wertz, P.W.3
Downing, D.T.4
-
34
-
-
0025010649
-
Metabolism of linoleic acid in porcine epidermis
-
Wertz PW, Downing DT: Metabolism of linoleic acid in porcine epidermis. J Lipid Res 1990, 31:1839-1844
-
(1990)
J Lipid Res
, vol.31
, pp. 1839-1844
-
-
Wertz, P.W.1
Downing, D.T.2
-
35
-
-
0021784419
-
Lamellar body-enriched fractions from neonatal mice: Preparative techniques and partial characterization
-
Grayson S, Johnson-Winegar AG, Wintroub BU, Isseroff RR, Epstein EH Jr., Elias PM: Lamellar body-enriched fractions from neonatal mice: preparative techniques and partial characterization. J Invest Dermatol 1985, 85:289-294
-
(1985)
J Invest Dermatol
, vol.85
, pp. 289-294
-
-
Grayson, S.1
Johnson-Winegar, A.G.2
Wintroub, B.U.3
Isseroff, R.R.4
Epstein Jr., E.H.5
Elias, P.M.6
-
36
-
-
0034002658
-
Expression of transglutaminase activity in developing human epidermis
-
Akiyama M, Smith LT, Shimizu H: Expression of transglutaminase activity in developing human epidermis. Br J Dermatol 2000, 142:223-225
-
(2000)
Br J Dermatol
, vol.142
, pp. 223-225
-
-
Akiyama, M.1
Smith, L.T.2
Shimizu, H.3
-
37
-
-
34547700861
-
Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis
-
Yamanaka Y, Akiyama M, Sugiyama-Nakagiri Y, Sakai K, Goto M, McMillan JR, Ota M, Sawamura D, Shimizu H: Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis. Am J Pathol 2007, 171:43-52
-
(2007)
Am J Pathol
, vol.171
, pp. 43-52
-
-
Yamanaka, Y.1
Akiyama, M.2
Sugiyama-Nakagiri, Y.3
Sakai, K.4
Goto, M.5
McMillan, J.R.6
Ota, M.7
Sawamura, D.8
Shimizu, H.9
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