Publications:

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Immunohistochemical, pharmacovigilance, and omics analyses reveal the involvement of ATP-sensitive K+ channel subunits in cancers: role in drug-disease interactions.

Frontiers In Pharmacology

Maqoud, Fatima F; Zizzo, Nicola N; Attimonelli, Marcella M; Tinelli, Antonella A; Passantino, Giuseppe G; Antonacci, Marina M; Ranieri, Girolamo G; Tricarico, Domenico D

Publication Date: 2023

Variant appearance in text: rs757110

PubMed Link: 37180726

Variant Present in the following documents:

• Main text
• fphar-14-1115543.pdf

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: ABCC8: A1369S

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: ABCC8: A1369S; rs757110

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: ABCC8: A1369S; rs757110

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs757110

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Monogenic diabetes variants in Emirati women with gestational diabetes are associated with risk of non-autoimmune diabetes within 5 years after pregnancy.

Metabolism Open

Daggag, Hinda H; Gjesing, Anette P AP; Mohammad, Alshafi A; Ängquist, Lars L; Shobi, Bindu B; Antony, Suma S; Haj, Dalia D; Al Tikriti, Alia A; Buckley, Adam A; Hansen, Torben T; Barakat, Maha T MT

Publication Date: 2022-12

Variant appearance in text: rs757110

PubMed Link: 36407475

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Association of KCNJ11 and ABCC8 single-nucleotide polymorphisms with type 2 diabetes mellitus in a Kinh Vietnamese population.

Medicine

Tran, Nam Quang NQ; Truong, Steven D SD; Ma, Phat Tung PT; Hoang, Chi Khanh CK; Le, Bao Hoang BH; Dinh, Thang Tat Ngo TTN; Van Tran, Luong L; Tran, Thang Viet TV; Le, Linh Hoang Gia LHG; Le, Khuong Thai KT; Nguyen, Hien Thanh HT; Vu, Hoang Anh HA; Mai, Thao Phuong TP; Do, Minh Duc MD

Publication Date: 2022-11-18

Variant appearance in text: rs757110

PubMed Link: 36401380

Variant Present in the following documents:

• Main text
• medi-101-e31653.pdf

View BVdb publication page

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Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism.

Frontiers In Endocrinology

Wieland, Ilse I; Schanze, Ina I; Felgendreher, Ina Marianti IM; Barthlen, Winfried W; Vogelgesang, Silke S; Mohnike, Klaus K; Zenker, Martin M

Publication Date: 2022

Variant appearance in text: rs757110

PubMed Link: 36339418

Variant Present in the following documents:

• Main text
• fendo-13-1015244.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: ABCC8: A1369S

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs757110

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Variants of SLC2A10 may be Linked to Poor Response to Metformin.

Journal Of The Endocrine Society

Paz-Pacheco, Elizabeth E; Nevado, Jose B JB; Cutiongco-de la Paz, Eva Maria C EMC; Jasul, Gabriel V GV; Aman, Aimee Yvonne Criselle L AYCL; Ribaya, Elizabeth Laurize A ELA; Francisco, Mark David G MDG; Guanzon, Ma Luz Vicenta V MLVV; Uyking-Naranjo, May L ML; Añonuevo-Cruz, Ma Cecille S MCS; Maningat, Maria Patricia Deanna D MPDD; Jaring, Cristina V CV; Nacpil-Dominguez, Paulette D PD; Pala-Mohamad, Aniza B AB; Canto, Abigail U AU; Quisumbing, John Paul M JPM; Lat, Annabelle Marie M AMM; Bernardo, Diane Carla C DCC; Mansibang, Noemie Marie M NMM; Calpito, Karell Jo Angelique C KJAC; Ribaya, Vincent Sean D VSD; Ferrer, Julius Patrick Y JPY; Biwang, Jessica H JH; Melegrito, Jodelyn B JB; Deguit, Christian Deo T CDT; Panerio, Carlos Emmanuel G CEG

Publication Date: 2022-08-01

Variant appearance in text: ABCC8: A1369S; rs757110

PubMed Link: 35854978

Variant Present in the following documents:

• Main text
• bvac092.pdf

View BVdb publication page

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Determinants in Tailoring Antidiabetic Therapies: A Personalized Approach.

Global Medical Genetics

Rizvi, Aliya A AA; Abbas, Mohammad M; Verma, Sushma S; Verma, Shrikant S; Khan, Almas A; Raza, Syed T ST; Mahdi, Farzana F

Publication Date: 2022-06

Variant appearance in text: rs757110

PubMed Link: 35707783

Variant Present in the following documents:

• Main text

View BVdb publication page

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Independent case-control study in KCNJ11 gene polymorphism with Type 2 diabetes Mellitus.

Saudi Journal Of Biological Sciences

Alqadri, Nada N

Publication Date: 2022-04

Variant appearance in text: rs757110

PubMed Link: 35531169

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Associations of ATP-Sensitive Potassium Channel's Gene Polymorphisms With Type 2 Diabetes and Related Cardiovascular Phenotypes.

Frontiers In Cardiovascular Medicine

Liu, Cheng C; Lai, Yanxian Y; Guan, Tianwang T; Zhan, Junfang J; Pei, Jingxian J; Wu, Daihong D; Ying, Songsong S; Shen, Yan Y

Publication Date: 2022

Variant appearance in text: ABCC8: Ala1369Ser; rs757110

PubMed Link: 35402560

Variant Present in the following documents:

• Main text
• fcvm-09-816847.pdf

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: ABCC8: A1369S

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Case Report: A Novel ABCC8 Variant in a Chinese Pedigree of Maturity-Onset Diabetes of the Young.

Frontiers In Endocrinology

Tang, Chaoyan C; Meng, Liheng L; Zhang, Ping P; Liang, Xinghuan X; Dang, Chaozhi C; Liang, Hui H; Wu, Junfeng J; Lan, Haiyun H; Qin, Yingfen Y

Publication Date: 2021

Variant appearance in text: rs757110

PubMed Link: 35002955

Variant Present in the following documents:

• Main text
• fendo-12-758723.pdf

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: ABCC8: A1369S

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: ABCC8: A1369S; rs757110

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: ABCC8: A1369S; rs757110

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: rs757110

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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INFIMA leverages multi-omics model organism data to identify effector genes of human GWAS variants.

Genome Biology

Dong, Chenyang C; Simonett, Shane P SP; Shin, Sunyoung S; Stapleton, Donnie S DS; Schueler, Kathryn L KL; Churchill, Gary A GA; Lu, Leina L; Liu, Xiaoxiao X; Jin, Fulai F; Li, Yan Y; Attie, Alan D AD; Keller, Mark P MP; Keleş, Sündüz S

Publication Date: 2021-08-23

Variant appearance in text: rs757110

PubMed Link: 34425882

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mapping gene and gene pathways associated with coronary artery disease: a CARDIoGRAM exome and multi-ancestry UK biobank analysis.

Scientific Reports

Hariharan, Praveen P; Dupuis, Josée J

Publication Date: 2021-08-12

Variant appearance in text: rs757110

PubMed Link: 34385509

Variant Present in the following documents:

• Main text
• 41598_2021_Article_95637.pdf

View BVdb publication page

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Genetic Variants Associated With Intraparenchymal Hemorrhage Progression After Traumatic Brain Injury.

Jama Network Open

Jha, Ruchira M RM; Zusman, Benjamin E BE; Puccio, Ava M AM; Okonkwo, David O DO; Pease, Matthew M; Desai, Shashvat M SM; Leach, Matthew M; Conley, Yvette P YP; Kochanek, Patrick M PM

Publication Date: 2021-07-01

Variant appearance in text: rs757110

PubMed Link: 34309670

Variant Present in the following documents:

• jamanetwopen-e2116839-s001.pdf

View BVdb publication page

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The Genetics of Adverse Drug Outcomes in Type 2 Diabetes: A Systematic Review.

Frontiers In Genetics

Baye, Assefa M AM; Fanta, Teferi G TG; Siddiqui, Moneeza K MK; Dawed, Adem Y AY

Publication Date: 2021

Variant appearance in text: rs757110

PubMed Link: 34194474

Variant Present in the following documents:

• Main text
• fgene-12-675053.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: ABCC8: 4105G>T; A1369S; rs757110

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: ABCC8: 4105G>T; Ala1369Ser; rs757110

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: ABCC8: Ala1369Ser; rs757110

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: ABCC8: 4105G>T; A1369S; rs757110

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: ABCC8: A1369S; rs757110

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes.

Diabetes, Metabolic Syndrome And Obesity : Targets And Therapy

Bouldjennet, Faiza F; Gjesing, Anette P AP; Azzouz, Malha M; Abderrahman, Samir Ait SA; El Guecier, Amina A; Ali, Said S; Oudjit, Brahim B; Mennadi-Lacete, Farida F; Yargui, Lyèce L; Boudiba, Aissa A; Chibane, Ahcène A; Touil-Boukoffa, Chafia C; Hansen, Torben T; Raache, Rachida R

Publication Date: 2020

Variant appearance in text: ABCC8: A1369S

PubMed Link: 33324081

Variant Present in the following documents:

• Main text

View BVdb publication page

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Population pharmacokinetics and pharmacogenomics of tacrolimus in Chinese children receiving a liver transplant: initial dose recommendation.

Translational Pediatrics

Chen, Xiao X; Wang, Dong-Dong DD; Xu, Hong H; Li, Zhi-Ping ZP

Publication Date: 2020-10

Variant appearance in text: rs757110

PubMed Link: 33209719

Variant Present in the following documents:

• Main text
• tp-09-05-576.pdf

View BVdb publication page

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Pharmacogenetics of Type 2 Diabetes-Progress and Prospects.

International Journal Of Molecular Sciences

Nasykhova, Yulia A YA; Tonyan, Ziravard N ZN; Mikhailova, Anastasiia A AA; Danilova, Maria M MM; Glotov, Andrey S AS

Publication Date: 2020-09-18

Variant appearance in text: ABCC8: Ala1369Ser; rs757110

PubMed Link: 32961860

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pharmacogenomic Studies of Current Antidiabetic Agents and Potential New Drug Targets for Precision Medicine of Diabetes.

Diabetes Therapy : Research, Treatment And Education Of Diabetes And Related Disorders

Zeng, Zhiwei Z; Huang, Shi-Ying SY; Sun, Tao T

Publication Date: 2020-11

Variant appearance in text: rs757110

PubMed Link: 32930968

Variant Present in the following documents:

• Main text
• 13300_2020_Article_922.pdf

View BVdb publication page

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Initial dose recommendation for sirolimus in paediatric kaposiform haemangioendothelioma patients based on population pharmacokinetics and pharmacogenomics.

The Journal Of International Medical Research

Chen, Xiao X; Wang, Dong-Dong DD; Xu, Hong H; Li, Zhi-Ping ZP

Publication Date: 2020-08

Variant appearance in text: rs757110

PubMed Link: 32815764

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome Chip Analysis of 14,026 Koreans Reveals Known and Newly Discovered Genetic Loci Associated with Type 2 Diabetes Mellitus.

Diabetes & Metabolism Journal

Cho, Seong Beom SB; Jang, Jin Hwa JH; Chung, Myung Guen MG; Kim, Sang Cheol SC

Publication Date: 2021-03

Variant appearance in text: rs757110

PubMed Link: 32794382

Variant Present in the following documents:

• dmj-2019-0163.pdf

View BVdb publication page

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Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics

Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR

Publication Date: 2021-01

Variant appearance in text: rs757110

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Initial Dosage Recommendation for Sirolimus in Children With Tuberous Sclerosis Complex.

Frontiers In Pharmacology

Wang, Dong-Dong DD; Chen, Xiao X; Xu, Hong H; Li, Zhi-Ping ZP

Publication Date: 2020

Variant appearance in text: rs757110

PubMed Link: 32595509

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pharmacogenetics of hypoglycemia associated with sulfonylurea therapy in usual clinical care.

The Pharmacogenomics Journal

Mitchell, Sabrina L SL; Leon, Daniel A Carranza DAC; Chaugai, Sandip S; Kawai, Vivian K VK; Levinson, Rebecca T RT; Wei, Wei-Qi WQ; Stein, C Michael CM

Publication Date: 2020-12

Variant appearance in text: rs757110

PubMed Link: 32504053

Variant Present in the following documents:

• Main text
• nihms-1595871.pdf

View BVdb publication page

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Iterative hard thresholding in genome-wide association studies: Generalized linear models, prior weights, and double sparsity.

Gigascience

Chu, Benjamin B BB; Keys, Kevin L KL; German, Christopher A CA; Zhou, Hua H; Zhou, Jin J JJ; Sobel, Eric M EM; Sinsheimer, Janet S JS; Lange, Kenneth K

Publication Date: 2020-06-01

Variant appearance in text: rs757110

PubMed Link: 32491161

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics Insights in the Relationship Between Type 2 Diabetes and Coronary Heart Disease.

Circulation Research

Goodarzi, Mark O MO; Rotter, Jerome I JI

Publication Date: 2020-05-22

Variant appearance in text: ABCC8: A1369S; rs757110

PubMed Link: 32437307

Variant Present in the following documents:

• Main text

View BVdb publication page

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Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion.

Bmc Medical Genetics

Sekiya, Motohiro M; Matsuda, Takaaki T; Yamamoto, Yuki Y; Furuta, Yasuhisa Y; Ohyama, Mariko M; Murayama, Yuki Y; Sugano, Yoko Y; Ohsaki, Yoshinori Y; Iwasaki, Hitoshi H; Yahagi, Naoya N; Yatoh, Shigeru S; Suzuki, Hiroaki H; Shimano, Hitoshi H

Publication Date: 2020-05-06

Variant appearance in text: ABCC8: Ala1369Ser; rs757110

PubMed Link: 32375679

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1031.pdf

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs757110

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: ABCC8: A1369S

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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A review of clinical pharmacogenetics Studies in African populations.

Personalized Medicine

Radouani, Fouzia F; Zass, Lyndon L; Hamdi, Yosr Y; Rocha, Jorge da JD; Sallam, Reem R; Abdelhak, Sonia S; Ahmed, Samah S; Azzouzi, Maryame M; Benamri, Ichrak I; Benkahla, Alia A; Bouhaouala-Zahar, Balkiss B; Chaouch, Melek M; Jmel, Haifa H; Kefi, Rym R; Ksouri, Ayoub A; Kumuthini, Judit J; Masilela, Phumlani P; Masimirembwa, Collen C; Othman, Houcemeddine H; Panji, Sumir S; Romdhane, Lilia L; Samtal, Chaimae C; Sibira, Rania R; Ghedira, Kais K; Fadlelmola, Faisal F; Kassim, Samar Kamal SK; Mulder, Nicola N

Publication Date: 2020-03

Variant appearance in text: ABCC8: A1369S

PubMed Link: 32125935

Variant Present in the following documents:

• nihms-1694746.pdf
• NIHMS1694746-supplement-Supplementary_file.xlsx, sheet 4
• NIHMS1694746-supplement-Supplementary_file.xlsx, sheet 3

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: ABCC8: 4105G>T; A1369S; rs757110

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: ABCC8: 4105G>T; Ala1369Ser

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Utility of Precision Medicine in the Management of Diabetes: Expert Opinion from an International Panel.

Diabetes Therapy : Research, Treatment And Education Of Diabetes And Related Disorders

Kalra, Sanjay S; Das, A K AK; Bajaj, Sarita S; Priya, Gagan G; Ghosh, Sujoy S; Mehrotra, R N RN; Das, Sambit S; Shah, Parag P; Deshmukh, Vaishali V; Sanyal, Debmalya D; Chandrasekaran, Sruti S; Khandelwal, Deepak D; Joshi, Amaya A; Nair, Tiny T; Eliana, Fatimah F; Permana, Hikmat H; Fariduddin, M D MD; Shrestha, Pradeep Krishna PK; Shrestha, Dina D; Kahandawa, Shayaminda S; Sumanathilaka, Manilka M; Shaheed, Ahamed A; Rahim, Aly Ahmed Abdel AAA; Orabi, Abbas A; Al-Ani, Ahmed A; Hussein, Wiam W; Kumar, Dinesh D; Shaikh, Khalid K

Publication Date: 2020-02

Variant appearance in text: ABCC8: A1369S

PubMed Link: 31916214

Variant Present in the following documents:

• Main text

View BVdb publication page

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SLC22A1 And ATM Genes Polymorphisms Are Associated With The Risk Of Type 2 Diabetes Mellitus In Western Saudi Arabia: A Case-Control Study.

The Application Of Clinical Genetics

Altall, Rana M RM; Qusti, Safaa Y SY; Filimban, Najlaa N; Alhozali, Amani M AM; Alotaibi, Najat A NA; Dallol, Ashraf A; Chaudhary, Adeel G AG; Bakhashab, Sherin S

Publication Date: 2019

Variant appearance in text: rs757110

PubMed Link: 31814751

Variant Present in the following documents:

• tacg-12-213.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: ABCC8: 4105G>T; Ala1369Ser; rs757110

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: ABCC8: A1369S; rs757110

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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