-
1
-
-
33646054123
-
Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: The underlying genetic defects and pathomechanisms
-
Akiyama M (2006) Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. J Dermatol Sci 42:83-9
-
(2006)
J Dermatol Sci
, vol.42
, pp. 83-89
-
-
Akiyama, M.1
-
2
-
-
0034068122
-
A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome
-
Aoki N, Suzuki H, Ito K, Ito M (2000) A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome. J Invest Dermatol 114:1065-6
-
(2000)
J Invest Dermatol
, vol.114
, pp. 1065-1066
-
-
Aoki, N.1
Suzuki, H.2
Ito, K.3
Ito, M.4
-
3
-
-
0031568898
-
Human fatty aldehyde dehydrogenase gene (ALDH10): Organization and tissue-dependent expression
-
Chang C, Yoshida A (1997) Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression. Genomics 40:80-5
-
(1997)
Genomics
, vol.40
, pp. 80-85
-
-
Chang, C.1
Yoshida, A.2
-
4
-
-
0029664636
-
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
-
De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG et al. (1996) Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet 12:52-7
-
(1996)
Nat Genet
, vol.12
, pp. 52-57
-
-
De Laurenzi, V.1
Rogers, G.R.2
Hamrock, D.J.3
Marekov, L.N.4
Steinert, P.M.5
Compton, J.G.6
-
5
-
-
0028015872
-
Interleukin-1 activates a novel protein kinase cascade that results in the phosphorylation of Hsp27
-
Freshney NW, Rawlinson L, Guesdon F, Jones E, Cowley S, Hsuan J et al. (1994) Interleukin-1 activates a novel protein kinase cascade that results in the phosphorylation of Hsp27. Cell 78:1039-49
-
(1994)
Cell
, vol.78
, pp. 1039-1049
-
-
Freshney, N.W.1
Rawlinson, L.2
Guesdon, F.3
Jones, E.4
Cowley, S.5
Hsuan, J.6
-
6
-
-
0025761767
-
Ultrastructural study of the skin in Sjögren-Larsson syndrome
-
Ito M, Oguro K, Sato Y (1991) Ultrastructural study of the skin in Sjögren-Larsson syndrome. Arch Dermatol Res 283:141-8
-
(1991)
Arch Dermatol Res
, vol.283
, pp. 141-148
-
-
Ito, M.1
Oguro, K.2
Sato, Y.3
-
7
-
-
0030936743
-
Human liver fatty aldehyde dehydrogenase: Microsomal localization, purification, and biochemical characterization
-
Kelson TL, Secor McVoy JR, Rizzo WB (1997) Human liver fatty aldehyde dehydrogenase: microsomal localization, purification, and biochemical characterization. Biochim Biophys Acta 1335:99-110
-
(1997)
Biochim Biophys Acta
, vol.1335
, pp. 99-110
-
-
Kelson, T.L.1
Secor McVoy, J.R.2
Rizzo, W.B.3
-
9
-
-
0031005062
-
The first structure of an aldehyde dehydrogenase reveals novel interactions between NAD and the Rossmann fold
-
Liu Z-J, Sun Y-J, Rose J, Chung YJ, Hsiao CD, Chang WR et al. (1997) The first structure of an aldehyde dehydrogenase reveals novel interactions between NAD and the Rossmann fold. Nat Struct Biol 4:317-26
-
(1997)
Nat Struct Biol
, vol.4
, pp. 317-326
-
-
Liu, Z.-J.1
Sun, Y.-J.2
Rose, J.3
Chung, Y.J.4
Hsiao, C.D.5
Chang, W.R.6
-
10
-
-
0028100996
-
Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses
-
Paige DG, Morse-Fisher N, Harper JI (1994) Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses. Br J Dermatol 131:23-7
-
(1994)
Br J Dermatol
, vol.131
, pp. 23-27
-
-
Paige, D.G.1
Morse-Fisher, N.2
Harper, J.I.3
-
11
-
-
0032923555
-
Relationships within the aldehyde dehydrogenase extended family
-
Perozich J, Nicholas H, Wang B-C, Lindahl R, Hempel J (1999) Relationships within the aldehyde dehydrogenase extended family. Protein Sci 8:137-46
-
(1999)
Protein Sci
, vol.8
, pp. 137-146
-
-
Perozich, J.1
Nicholas, H.2
Wang, B.-C.3
Lindahl, R.4
Hempel, J.5
-
12
-
-
0027337924
-
Sjögren-Larsson syndrome
-
Rizzo WB (1993) Sjögren-Larsson syndrome. Semin Dermatol 2:210-8
-
(1993)
Semin Dermatol
, vol.2
, pp. 210-218
-
-
Rizzo, W.B.1
-
13
-
-
22144493352
-
Sjögren-Larsson syndrome: Diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2)
-
Rizzo WB, Carney G (2005) Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2). Hum Mutat 26:1-10
-
(2005)
Hum Mutat
, vol.26
, pp. 1-10
-
-
Rizzo, W.B.1
Carney, G.2
-
14
-
-
0033233482
-
The molecular basis of Sjögren-Larsson syndrome: Mutation analysis of the fatty aldehyde dehydrogenase gene
-
Rizzo WB, Carney G, Lin Z (1999) The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. Am J Hum Genet 65:1547-60
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1547-1560
-
-
Rizzo, W.B.1
Carney, G.2
Lin, Z.3
-
15
-
-
0023818266
-
Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol: Nicotinamide adenine dinucleotide oxidoreductase activity
-
Rizzo WB, Dammann AL, Craft DA (1988) Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol: nicotinamide adenine dinucleotide oxidoreductase activity. J Clin Invest 81:737-44
-
(1988)
J Clin Invest
, vol.81
, pp. 737-744
-
-
Rizzo, W.B.1
Dammann, A.L.2
Craft, D.A.3
-
16
-
-
0031568268
-
Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH)
-
Rogers GR, Markova NG, De Laurenzi V, Rizzo WB, Compton JG (1997) Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH). Genomics 39:127-35
-
(1997)
Genomics
, vol.39
, pp. 127-135
-
-
Rogers, G.R.1
Markova, N.G.2
De Laurenzi, V.3
Rizzo, W.B.4
Compton, J.G.5
-
17
-
-
9744242042
-
Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjögren-Larsson syndrome
-
Shibaki A, Akiyama M, Shimizu H (2004) Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjögren-Larsson syndrome. J Invest Dermatol 123:1197-9
-
(2004)
J Invest Dermatol
, vol.123
, pp. 1197-1199
-
-
Shibaki, A.1
Akiyama, M.2
Shimizu, H.3
|