Associated Papers
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.
Zhu Y et al.
European Journal of Human Genetics : Ejhg, 2024
38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1
The genetic landscape of the human solute carrier (SLC) transporter superfamily.
Schaller L et al.
Human Genetics, 2019
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
Pharmacogenomics of Methotrexate Membrane Transport Pathway: Can Clinical Response to Methotrexate in Rheumatoid Arthritis Be Predicted?
Lima A et al.
International Journal of Molecular Sciences, 2015
26086825 (PubMed )
Supplement: ijms-16-13760-s001.pdf
SLC19A1, SLC46A1 and SLCO1B1 polymorphisms as predictors of methotrexate-related toxicity in Portuguese rheumatoid arthritis patients.
Lima A et al.
Toxicological Sciences : an Official Journal of the Society of Toxicology, 2014
Glucose metabolism transporters and epilepsy: only GLUT1 has an established role.
Hildebrand MS et al.
Epilepsia, 2014
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