Associated Papers
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Bisarad P et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.
Zhang T et al.
Peerj, 2024
A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome.
Warrack S et al.
Journal of Child Neurology, 2021
Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.
Abdel-Hamid MS et al.
Journal of Human Genetics, 2019
Genotype and phenotype variability in Sjögren-Larsson syndrome.
Weustenfeld M et al.
Human Mutation, 2019
Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome.
Cho KH et al.
Clinical Genetics, 2018
Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran.
Kariminejad A et al.
European Journal of Medical Genetics, 2018
Single amino acid polymorphism in aldehyde dehydrogenase gene superfamily.
Priyadharshini Christy J et al.
Frontiers in Bioscience (landmark Edition), 2015
A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.
Keller MA et al.
Nature Communications, 2014
Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.
Sarret C et al.
Journal of the Neurological Sciences, 2012
Phenotype prediction of deleterious nonsynonymous single nucleotide polymorphisms in human alcohol metabolism-related genes: a bioinformatics study.
Wang LL et al.
Alcohol (fayetteville, N.y.), 2010
Characterisation of recombinant human fatty aldehyde dehydrogenase: implications for Sjögren-Larsson syndrome.
Lloyd MD et al.
Journal of Enzyme Inhibition and Medicinal Chemistry, 2007
Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.
Rizzo WB
Molecular Genetics and Metabolism, 2007
Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).
Rizzo WB et al.
Human Mutation, 2005
Aldehyde dehydrogenase. Maintaining critical active site geometry at motif 8 in the class 3 enzyme.
Hempel J et al.
European Journal of Biochemistry, 2001
Polymorphisms of human aldehyde dehydrogenases. Consequences for drug metabolism and disease.
Vasiliou V et al.
Pharmacology, 2000
RNA-based mutation screening in German families with Sjögren-Larsson syndrome.
Kraus C et al.
European Journal of Human Genetics : Ejhg, 2000
The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.
Rizzo WB et al.
American Journal of Human Genetics, 1999
Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.
Sillén A et al.
Human Mutation, 1998