215 related articles for article (PubMed ID: 10577908)
1. The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.
Rizzo WB; Carney G; Lin Z
Am J Hum Genet; 1999 Dec; 65(6):1547-60. PubMed ID: 10577908
[TBL] [Abstract][Full Text] [Related]
2. RNA-based mutation screening in German families with Sjögren-Larsson syndrome.
Kraus C; Braun-Quentin C; Ballhausen WG; Pfeiffer RA
Eur J Hum Genet; 2000 Apr; 8(4):299-306. PubMed ID: 10854114
[TBL] [Abstract][Full Text] [Related]
3. Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).
Rizzo WB; Carney G
Hum Mutat; 2005 Jul; 26(1):1-10. PubMed ID: 15931689
[TBL] [Abstract][Full Text] [Related]
4. A common deletion mutation in European patients with Sjögren-Larsson syndrome.
Rizzo WB; Carney G; De Laurenzi V
Biochem Mol Med; 1997 Dec; 62(2):178-81. PubMed ID: 9441870
[TBL] [Abstract][Full Text] [Related]
5. Fatty aldehyde dehydrogenase: genomic structure, expression and mutation analysis in Sjögren-Larsson syndrome.
Rizzo WB; Lin Z; Carney G
Chem Biol Interact; 2001 Jan; 130-132(1-3):297-307. PubMed ID: 11306053
[TBL] [Abstract][Full Text] [Related]
6. Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.
Sillén A; Anton-Lamprecht I; Braun-Quentin C; Kraus CS; Sayli BS; Ayuso C; Jagell S; Küster W; Wadelius C
Hum Mutat; 1998; 12(6):377-84. PubMed ID: 9829906
[TBL] [Abstract][Full Text] [Related]
7. Sjögren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2.
Carney G; Wei S; Rizzo WB
Hum Mutat; 2004 Aug; 24(2):186. PubMed ID: 15241804
[TBL] [Abstract][Full Text] [Related]
8. 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; Markova N; Rizzo WB
Nat Genet; 1996 Jan; 12(1):52-7. PubMed ID: 8528251
[TBL] [Abstract][Full Text] [Related]
9. Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.
Rizzo WB
Mol Genet Metab; 2007 Jan; 90(1):1-9. PubMed ID: 16996289
[TBL] [Abstract][Full Text] [Related]
10. Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients.
De Laurenzi V; Rogers GR; Tarcsa E; Carney G; Marekov L; Bale SJ; Compton JG; Markova N; Steinert PM; Rizzo WB
J Invest Dermatol; 1997 Jul; 109(1):79-83. PubMed ID: 9204959
[TBL] [Abstract][Full Text] [Related]
11. A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden.
Sillén A; Jagell S; Wadelius C
Hum Genet; 1997 Aug; 100(2):201-3. PubMed ID: 9254849
[TBL] [Abstract][Full Text] [Related]
12. Restoration of fatty aldehyde dehydrogenase deficiency in Sjögren-Larsson syndrome.
Haug S; Braun-Falco M
Gene Ther; 2006 Jul; 13(13):1021-6. PubMed ID: 16525484
[TBL] [Abstract][Full Text] [Related]
13. Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome.
Didona B; Codispoti A; Bertini E; Rizzo WB; Carney G; Zambruno G; Dionisi-Vici C; Paradisi M; Pedicelli C; Melino G; Terrinoni A
J Hum Genet; 2007; 52(10):865-870. PubMed ID: 17902024
[TBL] [Abstract][Full Text] [Related]
14. An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.
Sakai K; Akiyama M; Yanagi T; Nampoothiri S; Mampilly T; Sunitha V; Shimizu H
Int J Dermatol; 2010 Sep; 49(9):1031-3. PubMed ID: 20883264
[TBL] [Abstract][Full Text] [Related]
15. A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.
Keller MA; Zander U; Fuchs JE; Kreutz C; Watschinger K; Mueller T; Golderer G; Liedl KR; Ralser M; Kräutler B; Werner ER; Marquez JA
Nat Commun; 2014 Jul; 5():4439. PubMed ID: 25047030
[TBL] [Abstract][Full Text] [Related]
16. Large contiguous gene deletions in Sjögren-Larsson syndrome.
Engelstad H; Carney G; S'aulis D; Rise J; Sanger WG; Rudd MK; Richard G; Carr CW; Abdul-Rahman OA; Rizzo WB
Mol Genet Metab; 2011 Nov; 104(3):356-61. PubMed ID: 21684788
[TBL] [Abstract][Full Text] [Related]
17. Genomic organization, expression, and alternate splicing of the mouse fatty aldehyde dehydrogenase gene.
Lin Z; Carney G; Rizzo WB
Mol Genet Metab; 2000 Nov; 71(3):496-505. PubMed ID: 11073717
[TBL] [Abstract][Full Text] [Related]
18. Incomplete Sjögren-Larsson syndrome in two Japanese siblings.
Kawakami T; Saito R; Fujikawa Y; Kazama H; Shinomiya N; Yamaguchi K; Yamaguchi Y; Aoki T; Kobayashi T
Dermatology; 1999; 198(1):93-6. PubMed ID: 10026413
[TBL] [Abstract][Full Text] [Related]
19. Adeno-associated virus vectors are able to restore fatty aldehyde dehydrogenase-deficiency. Implications for gene therapy in Sjogren-Larsson syndrome.
Haug S; Braun-Falco M
Arch Dermatol Res; 2005 Jun; 296(12):568-72. PubMed ID: 15834613
[TBL] [Abstract][Full Text] [Related]
20. Genotype and phenotype variability in Sjögren-Larsson syndrome.
Weustenfeld M; Eidelpes R; Schmuth M; Rizzo WB; Zschocke J; Keller MA
Hum Mutat; 2019 Feb; 40(2):177-186. PubMed ID: 30372562
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
