Literature DB >> 10384396

Molecular basis of Sjögren-Larsson syndrome: frequency of the 1297-1298 del GA and 943C-->T mutation in 29 patients.

L Ijlst1, W Oostheim, M van Werkhoven, M A Willemsen, R J Wanders.   

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Year:  1999        PMID： 10384396     DOI： 10.1023/a:1005508205450

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  10 in total

1.  Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study.

Authors:  T SJOGREN; T LARSSON
Journal:  Acta Psychiatr Neurol Scand Suppl       Date:  1957

2.  Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity.

Authors:  W B Rizzo; A L Dammann; D A Craft
Journal:  J Clin Invest       Date:  1988-03       Impact factor: 14.808

3.  A common deletion mutation in European patients with Sjögren-Larsson syndrome.

Authors:  W B Rizzo; G Carney; V De Laurenzi
Journal:  Biochem Mol Med       Date:  1997-12

4.  Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression.

Authors:  C Chang; A Yoshida
Journal:  Genomics       Date:  1997-02-15       Impact factor: 5.736

5.  Sjögren-Larsson syndrome: inherited defect in the fatty alcohol cycle.

Authors:  W B Rizzo; A L Dammann; D A Craft; S H Black; A H Tilton; D Africk; E Chaves-Carballo; G Holmgren; S Jagell
Journal:  J Pediatr       Date:  1989-08       Impact factor: 4.406

6.  Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts.

Authors:  W B Rizzo; D A Craft
Journal:  J Clin Invest       Date:  1991-11       Impact factor: 14.808

7.  Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene.

Authors:  V De Laurenzi; G R Rogers; D J Hamrock; L N Marekov; P M Steinert; J G Compton; N Markova; W B Rizzo
Journal:  Nat Genet       Date:  1996-01       Impact factor: 38.330

8.  Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH).

Authors:  G R Rogers; N G Markova; V De Laurenzi; W B Rizzo; J G Compton
Journal:  Genomics       Date:  1997-01-15       Impact factor: 5.736

9.  Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients.

Authors:  V De Laurenzi; G R Rogers; E Tarcsa; G Carney; L Marekov; S J Bale; J G Compton; N Markova; P M Steinert; W B Rizzo
Journal:  J Invest Dermatol       Date:  1997-07       Impact factor: 8.551

10.  Microsomal aldehyde dehydrogenase is localized to the endoplasmic reticulum via its carboxyl-terminal 35 amino acids.

Authors:  R Masaki; A Yamamoto; Y Tashiro
Journal:  J Cell Biol       Date:  1994-09       Impact factor: 10.539
  10 in total

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