Associated Papers
SLC26A1 directs sulfate homeostasis in health and disease.
Pitzken F et al.
Current Opinion in Nephrology and Hypertension, 2026
Rare CRHR2 and GRM8 variants identified as candidate factors associated with eating disorders in Japanese patients by whole exome sequencing.
Oka A et al.
Heliyon, 2024
38644811 (PubMed )
Supplement: mmc2.pdf
Natural History of Germline BRCA1 Mutated and BRCA Wild-type Triple-negative Breast Cancer.
Gardi N et al.
Cancer Research Communications, 2024
38315150 (PubMed )
Supplement: crc-23-0277-s13.xlsx › Sheet1
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
30892110 (PubMed )
Supplement: supplement_1.xlsx › _Variants_305__Sequence_Ontolo
Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups.
Rothwell S et al.
Annals of the Rheumatic Diseases, 2016
Extracellular Cl(-) regulates human SO4 (2-)/anion exchanger SLC26A1 by altering pH sensitivity of anion transport.
Wu M et al.
Pflugers Archiv : European Journal of Physiology, 2016
Mutations in SLC26A1 Cause Nephrolithiasis.
Gee HY et al.
American Journal of Human Genetics, 2016
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain
Human SLC26A1 gene variants: a pilot study.
Dawson PA et al.
Thescientificworldjournal, 2013
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