Publications:

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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: rs1800467

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: KCNJ11: L270V; rs1800467

PubMed Link: 36407475

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Admixture Has Shaped Romani Genetic Diversity in Clinically Relevant Variants.

Frontiers In Genetics

Font-Porterias, Neus N; Giménez, Aaron A; Carballo-Mesa, Annabel A; Calafell, Francesc F; Comas, David D

Publication Date: 2021

Variant appearance in text: rs1800467

PubMed Link: 34220960

Variant Present in the following documents:

• Main text
• fgene-12-683880.pdf

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: KCNJ11: L270V

PubMed Link: 33324081

Variant Present in the following documents:

• Main text
• dmso-13-4829.pdf

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: KCNJ11: 808C>G; Leu270Val

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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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: KCNJ11: 808C>G; Leu270Val

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: KCNJ11: L270V; rs1800467

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

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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: rs1800467

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs1800467

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment.

Bmc Medical Genetics

Song, Jingwen J; Yang, Yunzhong Y; Mauvais-Jarvis, Franck F; Wang, Yu-Ping YP; Niu, Tianhua T

Publication Date: 2017-06-06

Variant appearance in text: KCNJ11: L270V; rs1800467

PubMed Link: 28587604

Variant Present in the following documents:

• Main text
• 12881_2017_Article_422.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KCNJ11: 808C>G; Leu270Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.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: KCNJ11: L270V; rs1800467

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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Migration and DNA methylation: a comparison of methylation patterns in type 2 diabetes susceptibility genes between indians and europeans.

Journal Of Diabetes Research & Clinical Metabolism

Elliott, Hannah R HR; Walia, Gagandeep K GK; Duggirala, Aparna A; Groom, Alix A; Reddy, S Umakar SU; Chandak, Giriraj R GR; Gupta, Vipin V; Laakso, Markku M; Dekker, Jacqueline M JM; , ; Walker, Mark M; Ebrahim, Shah S; Smith, George Davey GD; Relton, Caroline L CL

Publication Date: 2013

Variant appearance in text: rs1800467

PubMed Link: 27099715

Variant Present in the following documents:

• Main text
• emss-67583.pdf

View BVdb publication page

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Candidate gene analysis supports a role for polymorphisms at TCF7L2 as risk factors for type 2 diabetes in Sudan.

Journal Of Diabetes And Metabolic Disorders

Ibrahim, Amir T AT; Hussain, Ayman A; Salih, Mohamed A M MA; Ibrahim, Omima Abdeen OA; Jamieson, Sarra E SE; Ibrahim, Muntaser E ME; Blackwell, Jenefer M JM; Mohamed, Hiba S HS

Publication Date: 2015

Variant appearance in text: rs1800467

PubMed Link: 26937418

Variant Present in the following documents:

• Main text
• 40200_2016_Article_225.pdf

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: rs1800467

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy.

Epilepsy Research

Schoeler, Natasha E NE; Leu, Costin C; White, Jon J; Plagnol, Vincent V; Ellard, Sian S; Matarin, Mar M; Yellen, Gary G; Thiele, Elizabeth A EA; Mackay, Mark M; McMahon, Jacinta M JM; Scheffer, Ingrid E IE; Sander, Josemir W JW; Cross, J Helen JH; Sisodiya, Sanjay M SM

Publication Date: 2015-12

Variant appearance in text: rs1800467

PubMed Link: 26590798

Variant Present in the following documents:

• Main text

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: KCNJ11: L270V

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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Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia.

Diabetology & Metabolic Syndrome

Del Roio Liberatore, Raphael R; Ramos, Priscila Manzini PM; Guerra, Gil G; Manna, Thais Della TD; Silva, Ivani Novato IN; Martinelli, Carlos Eduardo CE

Publication Date: 2015

Variant appearance in text: KCNJ11: 808C>G

PubMed Link: 25972930

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs1800467

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Genetic variations in magnesium-related ion channels may affect diabetes risk among African American and Hispanic American women.

The Journal Of Nutrition

Chan, Kei Hang K KH; Chacko, Sara A SA; Song, Yiqing Y; Cho, Michele M; Eaton, Charles B CB; Wu, Wen-Chih H WC; Liu, Simin S

Publication Date: 2015-03

Variant appearance in text: rs1800467

PubMed Link: 25733456

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: KCNJ11: L270V; rs1800467

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Population specific impact of genetic variants in KCNJ11 gene to type 2 diabetes: a case-control and meta-analysis study.

Plos One

Phani, Nagaraja M NM; Guddattu, Vasudeva V; Bellampalli, Ravishankara R; Seenappa, Venu V; Adhikari, Prabha P; Nagri, Shivashankara K SK; D Souza, Sydney C SC; Mundyat, Gopinath P GP; Satyamoorthy, Kapaettu K; Rai, Padmalatha S PS

Publication Date: 2014

Variant appearance in text: KCNJ11: L270V; rs1800467

PubMed Link: 25247988

Variant Present in the following documents:

• Main text
• pone.0107021.pdf

View BVdb publication page

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Pharmacogenetics of oral antidiabetic drugs.

International Journal Of Endocrinology

Becker, Matthijs L ML; Pearson, Ewan R ER; Tkáč, Ivan I

Publication Date: 2013

Variant appearance in text: KCNJ11: L270V

PubMed Link: 24324494

Variant Present in the following documents:

• Main text
• IJE2013-686315.pdf

View BVdb publication page

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Role of genetic polymorphisms of ion channels in the pathophysiology of coronary microvascular dysfunction and ischemic heart disease.

Basic Research In Cardiology

Fedele, Francesco F; Mancone, Massimo M; Chilian, William M WM; Severino, Paolo P; Canali, Emanuele E; Logan, Suzanna S; De Marchis, Maria Laura ML; Volterrani, Maurizio M; Palmirotta, Raffaele R; Guadagni, Fiorella F

Publication Date: 2013-11

Variant appearance in text: KCNJ11: Leu270Val; rs1800467

PubMed Link: 24068186

Variant Present in the following documents:

• Main text
• 395_2013_Article_387.pdf

View BVdb publication page

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Sequencing genes in silico using single nucleotide polymorphisms.

Bmc Genetics

Zhang, Xinyi Cindy XC; Zhang, Bo B; Li, Shuying Sue SS; Huang, Xin X; Hansen, John A JA; Zhao, Lue Ping LP

Publication Date: 2012-01-30

Variant appearance in text: KCNJ11: L270V; rs1800467

PubMed Link: 22289434

Variant Present in the following documents:

• Main text
• 1471-2156-13-6.pdf

View BVdb publication page

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Deep resequencing reveals excess rare recent variants consistent with explosive population growth.

Nature Communications

Coventry, Alex A; Bull-Otterson, Lara M LM; Liu, Xiaoming X; Clark, Andrew G AG; Maxwell, Taylor J TJ; Crosby, Jacy J; Hixson, James E JE; Rea, Thomas J TJ; Muzny, Donna M DM; Lewis, Lora R LR; Wheeler, David A DA; Sabo, Aniko A; Lusk, Christine C; Weiss, Kenneth G KG; Akbar, Humeira H; Cree, Andrew A; Hawes, Alicia C AC; Newsham, Irene I; Varghese, Robin T RT; Villasana, Donna D; Gross, Shannon S; Joshi, Vandita V; Santibanez, Jireh J; Morgan, Margaret M; Chang, Kyle K; Iv, Walker Hale WH; Templeton, Alan R AR; Boerwinkle, Eric E; Gibbs, Richard R; Sing, Charles F CF

Publication Date: 2010-11-30

Variant appearance in text: KCNJ11: L270V

PubMed Link: 21119644

Variant Present in the following documents:

• ncomms1130.pdf

View BVdb publication page

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Sulfonylurea pharmacogenomics in Type 2 diabetes: the influence of drug target and diabetes risk polymorphisms.

Expert Review Of Cardiovascular Therapy

Aquilante, Christina L CL

Publication Date: 2010-03

Variant appearance in text: KCNJ11: L270V

PubMed Link: 20222815

Variant Present in the following documents:

• Main text

View BVdb publication page

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