Associated Papers
Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia.
Tise CG et al.
Genetics in Medicine Open, 2025
39925707 (PubMed )
Supplement: mmc2.docx
Structural basis for the reaction cycle and transport mechanism of human Na+-sulfate cotransporter NaS1 (SLC13A1).
Chen X et al.
Science Advances, 2024
Pharmacogenetic Analysis of an 8-Year Old Girl with Reye Syndrome Associated with Use of Naproxen.
Kim B et al.
The American Journal of Case Reports, 2024
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.
Bjornsdottir G et al.
Nature Communications, 2022
35110524 (PubMed )
Supplement: 41467_2022_28167_MOESM3_ESM.xlsx › SupData_14__IDD__ser-sulfate
Variants in mycophenolate and CMV antiviral drug pharmacokinetic and pharmacodynamic genes and leukopenia in heart transplant recipients.
Oreschak K et al.
The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation, 2021
Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancer.
Tode N et al.
Cancer Science, 2017
28294470 (PubMed )
Supplement: CAS-108-1263-s001.pdf
From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.
Tise CG et al.
G3 (bethesda, Md.), 2016
Korean, Japanese, and Chinese populations featured similar genes encoding drug-metabolizing enzymes and transporters: a DMET Plus microarray assessment.
Yi S et al.
Pharmacogenetics and Genomics, 2014
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