Publications:

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Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences

Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A

Publication Date: 2021-01

Variant appearance in text: SLC10A2: P290S; rs56398830

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing analysis of the cardiometabolic proteome.

Nature Communications

Gilly, Arthur A; Park, Young-Chan YC; Png, Grace G; Barysenka, Andrei A; Fischer, Iris I; Bjørnland, Thea T; Southam, Lorraine L; Suveges, Daniel D; Neumeyer, Sonja S; Rayner, N William NW; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Dedoussis, George G; Zeggini, Eleftheria E

Publication Date: 2020-12-10

Variant appearance in text: rs56398830

PubMed Link: 33303764

Variant Present in the following documents:

• 41467_2020_20079_MOESM1_ESM.pdf

View BVdb publication page

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The Role of Gallstones in Gallbladder Cancer in India: A Mendelian Randomization Study.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Mhatre, Sharayu S; Richmond, Rebecca C RC; Chatterjee, Nilanjan N; Rajaraman, Preetha P; Wang, Zhaoming Z; Zhang, Haoyu H; Badwe, Rajendra R; Goel, Mahesh M; Patkar, Shraddha S; Shrikhande, Shailesh V SV; Patil, Prachi S PS; Davey Smith, George G; Relton, Caroline L CL; Dikshit, Rajesh P RP

Publication Date: 2021-02

Variant appearance in text: rs56398830

PubMed Link: 33187967

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation profiling in eight cases of vagal paragangliomas.

Bmc Medical Genomics

Kudryavtseva, Anna V AV; Kalinin, Dmitry V DV; Pavlov, Vladislav S VS; Savvateeva, Maria V MV; Fedorova, Maria S MS; Pudova, Elena A EA; Kobelyatskaya, Anastasiya A AA; Golovyuk, Alexander L AL; Guvatova, Zulfiya G ZG; Razmakhaev, George S GS; Demidova, Tatiana B TB; Simanovsky, Sergey A SA; Slavnova, Elena N EN; Poloznikov, Andrey А AА; Polyakov, Andrey P AP; Melnikova, Nataliya V NV; Dmitriev, Alexey A AA; Krasnov, George S GS; Snezhkina, Anastasiya V AV

Publication Date: 2020-09-18

Variant appearance in text: SLC10A2: P290S; rs56398830

PubMed Link: 32948195

Variant Present in the following documents:

• 12920_2020_763_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Intestinal Absorption of Bile Acids in Health and Disease.

Comprehensive Physiology

Ticho, Alexander L AL; Malhotra, Pooja P; Dudeja, Pradeep K PK; Gill, Ravinder K RK; Alrefai, Waddah A WA

Publication Date: 2019-12-18

Variant appearance in text: ASBT: P290S

PubMed Link: 31853951

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: SLC10A2: P290S; rs56398830

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.

Journal Of The American Heart Association

Calvete, Oriol O; Garcia-Pavia, Pablo P; Domínguez, Fernando F; Mosteiro, Lluc L; Pérez-Cabornero, Lucía L; Cantalapiedra, Diego D; Zorio, Esther E; Ramón Y Cajal, Teresa T; Crespo-Leiro, Maria G MG; Teulé, Álex Á; Lázaro, Conxi C; Morente, Manuel M MM; Urioste, Miguel M; Benitez, Javier J

Publication Date: 2019-09-17

Variant appearance in text: rs56398830

PubMed Link: 31510873

Variant Present in the following documents:

• JAH3-8-e012875.pdf
• JAH3-8-e012875-s001.pdf

View BVdb publication page

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Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics

Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI

Publication Date: 2019-06-03

Variant appearance in text: SLC10A2: P290S; rs56398830

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: SLC10A2: P290S

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

Nature Communications

Ferkingstad, Egil E; Oddsson, Asmundur A; Gretarsdottir, Solveig S; Benonisdottir, Stefania S; Thorleifsson, Gudmar G; Deaton, Aimee M AM; Jonsson, Stefan S; Stefansson, Olafur A OA; Norddahl, Gudmundur L GL; Zink, Florian F; Arnadottir, Gudny A GA; Gunnarsson, Bjarni B; Halldorsson, Gisli H GH; Helgadottir, Anna A; Jensson, Brynjar O BO; Kristjansson, Ragnar P RP; Sveinbjornsson, Gardar G; Sverrisson, David A DA; Masson, Gisli G; Olafsson, Isleifur I; Eyjolfsson, Gudmundur I GI; Sigurdardottir, Olof O; Holm, Hilma H; Jonsdottir, Ingileif I; Olafsson, Sigurdur S; Steingrimsdottir, Thora T; Rafnar, Thorunn T; Bjornsson, Einar S ES; Thorsteinsdottir, Unnur U; Gudbjartsson, Daniel F DF; Sulem, Patrick P; Stefansson, Kari K

Publication Date: 2018-11-30

Variant appearance in text: SLC10A2: Pro290Ser; rs56398830

PubMed Link: 30504769

Variant Present in the following documents:

• Main text
• 41467_2018_7460_MOESM8_ESM.xlsx, sheet 1
• 41467_2018_7460_MOESM4_ESM.xlsx, sheet 1
• 41467_2018_Article_7460.pdf
• 41467_2018_7460_MOESM2_ESM.pdf
• 41467_2018_7460_MOESM6_ESM.xlsx, sheet 1
• 41467_2018_7460_MOESM1_ESM.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs56398830

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: SLC10A2: P290S; rs56398830

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: SLC10A2: 868C>T; Pro290Ser

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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Single-strand DNA library preparation improves sequencing of formalin-fixed and paraffin-embedded (FFPE) cancer DNA.

Oncotarget

Stiller, Mathias M; Sucker, Antje A; Griewank, Klaus K; Aust, Daniela D; Baretton, Gustavo Bruno GB; Schadendorf, Dirk D; Horn, Susanne S

Publication Date: 2016-09-13

Variant appearance in text: SLC10A2: P290S

PubMed Link: 27463017

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs56398830

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SLC10A2: P290S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs56398830

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Strong effects of genetic and lifestyle factors on biomarker variation and use of personalized cutoffs.

Nature Communications

Enroth, Stefan S; Johansson, Asa A; Enroth, Sofia Bosdotter SB; Gyllensten, Ulf U

Publication Date: 2014-08-22

Variant appearance in text: rs56398830

PubMed Link: 25147954

Variant Present in the following documents:

• Main text
• ncomms5684.pdf

View BVdb publication page

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The solute carrier family 10 (SLC10): beyond bile acid transport.

Molecular Aspects Of Medicine

Claro da Silva, Tatiana T; Polli, James E JE; Swaan, Peter W PW

Publication Date: 2013

Variant appearance in text: SLC10A2: 868C>T

PubMed Link: 23506869

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional characterization of genetic variants in the apical sodium-dependent bile acid transporter (ASBT; SLC10A2).

Journal Of Gastroenterology And Hepatology

Ho, Richard H RH; Leake, Brenda F BF; Urquhart, Brad L BL; Gregor, Jamie C JC; Dawson, Paul A PA; Kim, Richard B RB

Publication Date: 2011-12

Variant appearance in text: SLC10A2: Pro290Ser

PubMed Link: 21649730

Variant Present in the following documents:

• Main text

View BVdb publication page

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Role of the intestinal bile acid transporters in bile acid and drug disposition.

Handbook Of Experimental Pharmacology

Dawson, Paul A PA

Publication Date: 2011

Variant appearance in text: SLC10A2: P290S

PubMed Link: 21103970

Variant Present in the following documents:

• Main text

View BVdb publication page

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A variant of the SLC10A2 gene encoding the apical sodium-dependent bile acid transporter is a risk factor for gallstone disease.

Plos One

Renner, Olga O; Harsch, Simone S; Schaeffeler, Elke E; Winter, Stefan S; Schwab, Matthias M; Krawczyk, Marcin M; Rosendahl, Jonas J; Wittenburg, Henning H; Lammert, Frank F; Stange, Eduard F EF

Publication Date: 2009-10-13

Variant appearance in text: SLC10A2: 868C>T; rs56398830

PubMed Link: 19823678

Variant Present in the following documents:

• Main text
• pone.0007321.pdf

View BVdb publication page

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