Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.
Zhang T et al.
Peerj, 2024
39465171 (PubMed )
Supplement: peerj-12-18360-s002.7z › drug-metabolizing_enzymes_and_transporter__DMET__microarray › markerlist.xlsx › markerlist.TXT
Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum.
Staps P et al.
Jimd Reports, 2020
Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.
Amr K et al.
Archives of Dermatological Research, 2019
Genotype and phenotype variability in Sjögren-Larsson syndrome.
Weustenfeld M et al.
Human Mutation, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome.
Cho KH et al.
Clinical Genetics, 2018
Atypical Presentation of Sjögren-Larsson Syndrome.
Papathemeli D et al.
Case Reports in Pediatrics, 2017
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
25047030 (PubMed )
Supplement: ncomms5439-s1.pdf
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
Polymorphisms of human aldehyde dehydrogenases. Consequences for drug metabolism and disease.
Vasiliou V et al.
Pharmacology, 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
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