ABCC8 c.4105G>A ;(p.A1369T)

Variant ID: 11-17418477-C-T

NM_000352.3(ABCC8):c.4105G>A;(p.A1369T)

This variant was identified in 68 publications

View GRCh38 version.




Publications:


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



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



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



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
View BVdb publication page



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



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: rs757110
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



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



Pharmacogenetics of Metformin Transporters Suggests No Association with Therapeutic Inefficacy among Diabetes Type 2 Mexican Patients.

Pharmaceuticals (Basel, Switzerland)
Ortega-Ayala, Adiel A; Rodríguez-Rivera, Nidia Samara NS; Andrés, Fernando de F; LLerena, Adrián A; Pérez-Silva, Eliseo E; Espinosa-Sánchez, Adriana Guadalupe AG; Molina-Guarneros, Juan Arcadio JA
Publication Date: 2022-06-22

Variant appearance in text: rs757110
PubMed Link: 35890074
Variant Present in the following documents:
  • pharmaceuticals-15-00774.pdf
View BVdb publication page



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



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



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: rs757110
PubMed Link: 35402560
Variant Present in the following documents:
  • Main text
  • fcvm-09-816847.pdf
View BVdb publication page



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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: rs757110
PubMed Link: 32437307
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs757110
PubMed Link: 32375679
Variant Present in the following documents:
  • Main text
View BVdb publication page



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



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



Recent advances and perspectives in next generation sequencing application to the genetic research of type 2 diabetes.

World Journal Of Diabetes
Nasykhova, Yulia A YA; Barbitoff, Yury A YA; Serebryakova, Elena A EA; Katserov, Dmitry S DS; Glotov, Andrey S AS
Publication Date: 2019-07-15

Variant appearance in text: rs757110
PubMed Link: 31363385
Variant Present in the following documents:
  • Main text
  • WJD-10-376.pdf
View BVdb publication page



The influence of SLC22A1 rs622342 and ABCC8 rs757110 genetic variants on the efficacy of metformin and glimepiride combination therapy in Egyptian patients with type 2 diabetes.

Journal Of Drug Assessment
Ebid, Abdel-Hameed I M AIM; Ehab, Moataz M; Ismail, Ashraf A; Soror, Sameh S; Mahmoud, Mohamed Adel MA
Publication Date: 2019

Variant appearance in text: rs757110
PubMed Link: 31231590
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.

Nature
Flannick, Jason J; Mercader, Josep M JM; Fuchsberger, Christian C; Udler, Miriam S MS; Mahajan, Anubha A; Wessel, Jennifer J; Teslovich, Tanya M TM; Caulkins, Lizz L; Koesterer, Ryan R; Barajas-Olmos, Francisco F; Blackwell, Thomas W TW; Boerwinkle, Eric E; Brody, Jennifer A JA; Centeno-Cruz, Federico F; Chen, Ling L; Chen, Siying S; Contreras-Cubas, Cecilia C; Córdova, Emilio E; Correa, Adolfo A; Cortes, Maria M; DeFronzo, Ralph A RA; Dolan, Lawrence L; Drews, Kimberly L KL; Elliott, Amanda A; Floyd, James S JS; Gabriel, Stacey S; Garay-Sevilla, Maria Eugenia ME; García-Ortiz, Humberto H; Gross, Myron M; Han, Sohee S; Heard-Costa, Nancy L NL; Jackson, Anne U AU; Jørgensen, Marit E ME; Kang, Hyun Min HM; Kelsey, Megan M; Kim, Bong-Jo BJ; Koistinen, Heikki A HA; Kuusisto, Johanna J; Leader, Joseph B JB; Linneberg, Allan A; Liu, Ching-Ti CT; Liu, Jianjun J; Lyssenko, Valeriya V; Manning, Alisa K AK; Marcketta, Anthony A; Malacara-Hernandez, Juan Manuel JM; Martínez-Hernández, Angélica A; Matsuo, Karen K; Mayer-Davis, Elizabeth E; Mendoza-Caamal, Elvia E; Mohlke, Karen L KL; Morrison, Alanna C AC; Ndungu, Anne A; Ng, Maggie C Y MCY; O'Dushlaine, Colm C; Payne, Anthony J AJ; Pihoker, Catherine C; , ; Post, Wendy S WS; Preuss, Michael M; Psaty, Bruce M BM; Vasan, Ramachandran S RS; Rayner, N William NW; Reiner, Alexander P AP; Revilla-Monsalve, Cristina C; Robertson, Neil R NR; Santoro, Nicola N; Schurmann, Claudia C; So, Wing Yee WY; Soberón, Xavier X; Stringham, Heather M HM; Strom, Tim M TM; Tam, Claudia H T CHT; Thameem, Farook F; Tomlinson, Brian B; Torres, Jason M JM; Tracy, Russell P RP; van Dam, Rob M RM; Vujkovic, Marijana M; Wang, Shuai S; Welch, Ryan P RP; Witte, Daniel R DR; Wong, Tien-Yin TY; Atzmon, Gil G; Barzilai, Nir N; Blangero, John J; Bonnycastle, Lori L LL; Bowden, Donald W DW; Chambers, John C JC; Chan, Edmund E; Cheng, Ching-Yu CY; Cho, Yoon Shin YS; Collins, Francis S FS; de Vries, Paul S PS; Duggirala, Ravindranath R; Glaser, Benjamin B; Gonzalez, Clicerio C; Gonzalez, Ma Elena ME; Groop, Leif L; Kooner, Jaspal Singh JS; Kwak, Soo Heon SH; Laakso, Markku M; Lehman, Donna M DM; Nilsson, Peter P; Spector, Timothy D TD; Tai, E Shyong ES; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Wilson, James G JG; Aguilar-Salinas, Carlos A CA; Bottinger, Erwin E; Burke, Brian B; Carey, David J DJ; Chan, Juliana C N JCN; Dupuis, Josée J; Frossard, Philippe P; Heckbert, Susan R SR; Hwang, Mi Yeong MY; Kim, Young Jin YJ; Kirchner, H Lester HL; Lee, Jong-Young JY; Lee, Juyoung J; Loos, Ruth J F RJF; Ma, Ronald C W RCW; Morris, Andrew D AD; O'Donnell, Christopher J CJ; Palmer, Colin N A CNA; Pankow, James J; Park, Kyong Soo KS; Rasheed, Asif A; Saleheen, Danish D; Sim, Xueling X; Small, Kerrin S KS; Teo, Yik Ying YY; Haiman, Christopher C; Hanis, Craig L CL; Henderson, Brian E BE; Orozco, Lorena L; Tusié-Luna, Teresa T; Dewey, Frederick E FE; Baras, Aris A; Gieger, Christian C; Meitinger, Thomas T; Strauch, Konstantin K; Lange, Leslie L; Grarup, Niels N; Hansen, Torben T; Pedersen, Oluf O; Zeitler, Philip P; Dabelea, Dana D; Abecasis, Goncalo G; Bell, Graeme I GI; Cox, Nancy J NJ; Seielstad, Mark M; Sladek, Rob R; Meigs, James B JB; Rich, Steve S SS; Rotter, Jerome I JI; , ; , ; , ; , ; , ; , ; , ; , ; , ; Altshuler, David D; Burtt, Noël P NP; Scott, Laura J LJ; Morris, Andrew P AP; Florez, Jose C JC; McCarthy, Mark I MI; Boehnke, Michael M
Publication Date: 2019-06

Variant appearance in text: rs757110
PubMed Link: 31118516
Variant Present in the following documents:
  • 41586_2019_1231_MOESM1_ESM.pdf
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs757110
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits.

American Journal Of Human Genetics
Kraja, Aldi T AT; Liu, Chunyu C; Fetterman, Jessica L JL; Graff, Mariaelisa M; Have, Christian Theil CT; Gu, Charles C; Yanek, Lisa R LR; Feitosa, Mary F MF; Arking, Dan E DE; Chasman, Daniel I DI; Young, Kristin K; Ligthart, Symen S; Hill, W David WD; Weiss, Stefan S; Luan, Jian'an J; Giulianini, Franco F; Li-Gao, Ruifang R; Hartwig, Fernando P FP; Lin, Shiow J SJ; Wang, Lihua L; Richardson, Tom G TG; Yao, Jie J; Fernandez, Eliana P EP; Ghanbari, Mohsen M; Wojczynski, Mary K MK; Lee, Wen-Jane WJ; Argos, Maria M; Armasu, Sebastian M SM; Barve, Ruteja A RA; Ryan, Kathleen A KA; An, Ping P; Baranski, Thomas J TJ; Bielinski, Suzette J SJ; Bowden, Donald W DW; Broeckel, Ulrich U; Christensen, Kaare K; Chu, Audrey Y AY; Corley, Janie J; Cox, Simon R SR; Uitterlinden, Andre G AG; Rivadeneira, Fernando F; Cropp, Cheryl D CD; Daw, E Warwick EW; van Heemst, Diana D; de Las Fuentes, Lisa L; Gao, He H; Tzoulaki, Ioanna I; Ahluwalia, Tarunveer S TS; de Mutsert, Renée R; Emery, Leslie S LS; Erzurumluoglu, A Mesut AM; Perry, James A JA; Fu, Mao M; Forouhi, Nita G NG; Gu, Zhenglong Z; Hai, Yang Y; Harris, Sarah E SE; Hemani, Gibran G; Hunt, Steven C SC; Irvin, Marguerite R MR; Jonsson, Anna E AE; Justice, Anne E AE; Kerrison, Nicola D ND; Larson, Nicholas B NB; Lin, Keng-Hung KH; Love-Gregory, Latisha D LD; Mathias, Rasika A RA; Lee, Joseph H JH; Nauck, Matthias M; Noordam, Raymond R; Ong, Ken K KK; Pankow, James J; Patki, Amit A; Pattie, Alison A; Petersmann, Astrid A; Qi, Qibin Q; Ribel-Madsen, Rasmus R; Rohde, Rebecca R; Sandow, Kevin K; Schnurr, Theresia M TM; Sofer, Tamar T; Starr, John M JM; Taylor, Adele M AM; Teumer, Alexander A; Timpson, Nicholas J NJ; de Haan, Hugoline G HG; Wang, Yujie Y; Weeke, Peter E PE; Williams, Christine C; Wu, Hongsheng H; Yang, Wei W; Zeng, Donglin D; Witte, Daniel R DR; Weir, Bruce S BS; Wareham, Nicholas J NJ; Vestergaard, Henrik H; Turner, Stephen T ST; Torp-Pedersen, Christian C; Stergiakouli, Evie E; Sheu, Wayne Huey-Herng WH; Rosendaal, Frits R FR; Ikram, M Arfan MA; Franco, Oscar H OH; Ridker, Paul M PM; Perls, Thomas T TT; Pedersen, Oluf O; Nohr, Ellen A EA; Newman, Anne B AB; Linneberg, Allan A; Langenberg, Claudia C; Kilpeläinen, Tuomas O TO; Kardia, Sharon L R SLR; Jørgensen, Marit E ME; Jørgensen, Torben T; Sørensen, Thorkild I A TIA; Homuth, Georg G; Hansen, Torben T; Goodarzi, Mark O MO; Deary, Ian J IJ; Christensen, Cramer C; Chen, Yii-Der Ida YI; Chakravarti, Aravinda A; Brandslund, Ivan I; Bonnelykke, Klaus K; Taylor, Kent D KD; Wilson, James G JG; Rodriguez, Santiago S; Davies, Gail G; Horta, Bernardo L BL; Thyagarajan, Bharat B; Rao, D C DC; Grarup, Niels N; Davila-Roman, Victor G VG; Hudson, Gavin G; Guo, Xiuqing X; Arnett, Donna K DK; Hayward, Caroline C; Vaidya, Dhananjay D; Mook-Kanamori, Dennis O DO; Tiwari, Hemant K HK; Levy, Daniel D; Loos, Ruth J F RJF; Dehghan, Abbas A; Elliott, Paul P; Malik, Afshan N AN; Scott, Robert A RA; Becker, Diane M DM; de Andrade, Mariza M; Province, Michael A MA; Meigs, James B JB; Rotter, Jerome I JI; North, Kari E KE
Publication Date: 2019-01-03

Variant appearance in text: rs757110
PubMed Link: 30595373
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: rs757110
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs757110
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: rs757110
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 4
  • MGG3-6-739-s002.xlsx, sheet 6
View BVdb publication page



Genetic variations and risk of placental abruption: A genome-wide association study and meta-analysis of genome-wide association studies.

Placenta
Workalemahu, Tsegaselassie T; Enquobahrie, Daniel A DA; Gelaye, Bizu B; Sanchez, Sixto E SE; Garcia, Pedro J PJ; Tekola-Ayele, Fasil F; Hajat, Anjum A; Thornton, Timothy A TA; Ananth, Cande V CV; Williams, Michelle A MA
Publication Date: 2018-06

Variant appearance in text: rs757110
PubMed Link: 29884306
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dietary and genetic risk scores and incidence of type 2 diabetes.

Genes & Nutrition
Ericson, Ulrika U; Hindy, George G; Drake, Isabel I; Schulz, Christina-Alexandra CA; Brunkwall, Louise L; Hellstrand, Sophie S; Almgren, Peter P; Orho-Melander, Marju M
Publication Date: 2018

Variant appearance in text: rs757110
PubMed Link: 29796113
Variant Present in the following documents:
  • Main text
  • 12263_2018_Article_599.pdf
View BVdb publication page



Pharmacogenetic landscape of Metabolic Syndrome components drug response in Tunisia and comparison with worldwide populations.

Plos One
Jmel, Haifa H; Romdhane, Lilia L; Ben Halima, Yosra Y; Hechmi, Meriem M; Naouali, Chokri C; Dallali, Hamza H; Hamdi, Yosr Y; Shan, Jingxuan J; Abid, Abdelmajid A; Jamoussi, Henda H; Trabelsi, Sameh S; Chouchane, Lotfi L; Luiselli, Donata D; Abdelhak, Sonia S; Kefi, Rym R
Publication Date: 2018

Variant appearance in text: rs757110
PubMed Link: 29652911
Variant Present in the following documents:
  • Main text
  • pone.0194842.pdf
View BVdb publication page



Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Bmc Medical Genomics
Calender, Alain A; Rollat Farnier, Pierre Antoine PA; Buisson, Adrien A; Pinson, Stéphane S; Bentaher, Abderrazzaq A; Lebecque, Serge S; Corvol, Harriet H; Abou Taam, Rola R; Houdouin, Véronique V; Bardel, Claire C; Roy, Pascal P; Devouassoux, Gilles G; Cottin, Vincent V; Seve, Pascal P; Bernaudin, Jean-François JF; Lim, Clarice X CX; Weichhart, Thomas T; Valeyre, Dominique D; Pacheco, Yves Y; Clement, Annick A; Nathan, Nadia N; ,
Publication Date: 2018-03-06

Variant appearance in text: rs757110
PubMed Link: 29510755
Variant Present in the following documents:
  • 12920_2018_338_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs757110
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Identification of genetic variants in pharmacogenetic genes associated with type 2 diabetes in a Mexican-Mestizo population.

Biomedical Reports
Rodríguez-Rivera, Nidia Samara NS; Cuautle-Rodríguez, Patricia P; Castillo-Nájera, Fernando F; Molina-Guarneros, Juan Arcadio JA
Publication Date: 2017-07

Variant appearance in text: rs757110
PubMed Link: 28685055
Variant Present in the following documents:
  • Main text
  • br-07-01-0021.pdf
View BVdb publication page



Large-scale pharmacogenomic study of sulfonylureas and the QT, JT and QRS intervals: CHARGE Pharmacogenomics Working Group.

The Pharmacogenomics Journal
Floyd, J S JS; Sitlani, C M CM; Avery, C L CL; Noordam, R R; Li, X X; Smith, A V AV; Gogarten, S M SM; Li, J J; Broer, L L; Evans, D S DS; Trompet, S S; Brody, J A JA; Stewart, J D JD; Eicher, J D JD; Seyerle, A A AA; Roach, J J; Lange, L A LA; Lin, H J HJ; Kors, J A JA; Harris, T B TB; Li-Gao, R R; Sattar, N N; Cummings, S R SR; Wiggins, K L KL; Napier, M D MD; Stürmer, T T; Bis, J C JC; Kerr, K F KF; Uitterlinden, A G AG; Taylor, K D KD; Stott, D J DJ; de Mutsert, R R; Launer, L J LJ; Busch, E L EL; Méndez-Giráldez, R R; Sotoodehnia, N N; Soliman, E Z EZ; Li, Y Y; Duan, Q Q; Rosendaal, F R FR; Slagboom, P E PE; Wilhelmsen, K C KC; Reiner, A P AP; Chen, Y-Di YD; Heckbert, S R SR; Kaplan, R C RC; Rice, K M KM; Jukema, J W JW; Johnson, A D AD; Liu, Y Y; Mook-Kanamori, D O DO; Gudnason, V V; Wilson, J G JG; Rotter, J I JI; Laurie, C C CC; Psaty, B M BM; Whitsel, E A EA; Cupples, L A LA; Stricker, B H BH
Publication Date: 2018-01

Variant appearance in text: rs757110
PubMed Link: 27958378
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Application of Genomics in Diabetes: Barriers to Discovery and Implementation.

Diabetes Care
Floyd, James S JS; Psaty, Bruce M BM
Publication Date: 2016-11

Variant appearance in text: rs757110
PubMed Link: 27926887
Variant Present in the following documents:
  • Main text
View BVdb publication page



Homozygous inactivation of CHEK2 is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organs.

Cold Spring Harbor Molecular Case Studies
Kukita, Yoji Y; Okami, Jiro J; Yoneda-Kato, Noriko N; Nakamae, Ikuko I; Kawabata, Takeshi T; Higashiyama, Masahiko M; Kato, Junya J; Kodama, Ken K; Kato, Kikuya K
Publication Date: 2016-11

Variant appearance in text: rs757110
PubMed Link: 27900359
Variant Present in the following documents:
  • Main text
  • KukitaMCS001032.pdf
View BVdb publication page



Several type 2 diabetes-associated variants in genes annotated to WNT signaling interact with dietary fiber in relation to incidence of type 2 diabetes.

Genes & Nutrition
Hindy, George G; Mollet, Inês G IG; Rukh, Gull G; Ericson, Ulrika U; Orho-Melander, Marju M
Publication Date: 2016

Variant appearance in text: rs757110
PubMed Link: 27551309
Variant Present in the following documents:
  • 12263_2016_524_MOESM1_ESM.pdf
View BVdb publication page



Pharmacogenetics in type 2 diabetes: influence on response to oral hypoglycemic agents.

Pharmacogenomics And Personalized Medicine
Dawed, Adem Yesuf AY; Zhou, Kaixin K; Pearson, Ewan Robert ER
Publication Date: 2016

Variant appearance in text: rs757110
PubMed Link: 27103840
Variant Present in the following documents:
  • Main text
  • pgpm-9-017.pdf
View BVdb publication page



Molecular determinants of ATP-sensitive potassium channel MgATPase activity: diabetes risk variants and diazoxide sensitivity.

Bioscience Reports
Fatehi, Mohammad M; Carter, Chris R J CR; Youssef, Nermeen N; Hunter, Beth E BE; Holt, Andrew A; Light, Peter E PE
Publication Date: 2015-07-07

Variant appearance in text: rs757110
PubMed Link: 26181369
Variant Present in the following documents:
  • Main text
View BVdb publication page



Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabetes Mellitus 2 Type Cohort and Meta-Analysis.

Plos One
Sokolova, Ekaterina Alekseevna EA; Bondar, Irina Arkadievna IA; Shabelnikova, Olesya Yurievna OY; Pyankova, Olga Vladimirovna OV; Filipenko, Maxim Leonidovich ML
Publication Date: 2015

Variant appearance in text: rs757110
PubMed Link: 25955821
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Publication Date: 2015

Variant appearance in text: rs757110
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



Personalized medicine in Type 2 Diabetes.

Biomedicine
Liao, Wen-Ling WL; Tsai, Fuu-Jen FJ
Publication Date: 2014

Variant appearance in text: rs757110
PubMed Link: 25520921
Variant Present in the following documents:
  • Main text
  • 40681_2014_Article_8.pdf
View BVdb publication page