Associated Papers
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Bisikirska B et al.
Science Translational Medicine, 2024
39413162 (PubMed )
Supplement: scitranslmed.adj0085_data_files_s1_to_s10.zip › adj0085_data_file_s1.xlsx › Sheet1
SLC10A2 deficiency-induced congenital chronic bile acid diarrhea and stunting.
Qie D et al.
Molecular Genetics & Genomic Medicine, 2021
Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.
Aboul-Soud MAM et al.
Saudi Journal of Biological Sciences, 2021
33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Mutation profiling in eight cases of vagal paragangliomas.
Kudryavtseva AV et al.
Bmc Medical Genomics, 2020
32948195 (PubMed )
Supplement: 12920_2020_763_MOESM1_ESM.xls › Pat2
POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.
Calvete O et al.
Journal of the American Heart Association, 2019
Identification and Replication of Six Loci Associated With Gallstone Disease.
Gellert-Kristensen H et al.
Hepatology (baltimore, Md.), 2019
Targeted next generation sequencing as a tool for precision medicine.
Gulilat M et al.
Bmc Medical Genomics, 2019
31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6
Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.
Ferkingstad E et al.
Nature Communications, 2018
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.
Hocking JC et al.
Plos Genetics, 2018
29522511 (PubMed )
Supplement: pgen.1007246.s002.xlsx › Sheet1
Functional characterization of genetic variants in the apical sodium-dependent bile acid transporter (ASBT; SLC10A2).
Ho RH et al.
Journal of Gastroenterology and Hepatology, 2011
Role of the intestinal bile acid transporters in bile acid and drug disposition.
Dawson PA
Handbook of Experimental Pharmacology, 2011
A variant of the SLC10A2 gene encoding the apical sodium-dependent bile acid transporter is a risk factor for gallstone disease.
Renner O et al.
Plos One, 2009
Mutation screening of apical sodium-dependent bile acid transporter (SLC10A2): novel haplotype block including six newly identified variants linked to reduced expression.
Renner O et al.
Human Genetics, 2009
Transmembrane domain VII of the human apical sodium-dependent bile acid transporter ASBT (SLC10A2) lines the substrate translocation pathway.
Hussainzada N et al.
Molecular Pharmacology, 2006
Identification of a mutation in the ileal sodium-dependent bile acid transporter gene that abolishes transport activity.
Wong MH et al.
The Journal of Biological Chemistry, 1995
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