Publications:

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Novel gene mutation in maturity-onset diabetes of the young: A case report.

World Journal Of Clinical Cases

Zhang, Na N; Zhao, Hui H; Li, Cui C; Zhang, Feng-Zhi FZ

Publication Date: 2023-02-16

Variant appearance in text: KLF11: Thr220Met

PubMed Link: 36874436

Variant Present in the following documents:

• WJCC-11-1099.pdf

View BVdb publication page

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Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.

Journal Of Personalized Medicine

Younis, Hazar H; Ha, Se Eun SE; Jorgensen, Brian G BG; Verma, Arushi A; Ro, Seungil S

Publication Date: 2022-10-25

Variant appearance in text: KLF11: Thr220Met

PubMed Link: 36573710

Variant Present in the following documents:

• Main text
• jpm-12-01762.pdf

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Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology

Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C

Publication Date: 2022

Variant appearance in text: KLF11: 659C>T; T220M

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young.

International Journal Of Molecular Sciences

Sousa, Madalena M; Rego, Teresa T; Armas, Jácome Bruges JB

Publication Date: 2022-10-26

Variant appearance in text: KLF11: T220M

PubMed Link: 36361703

Variant Present in the following documents:

• Main text
• ijms-23-12910.pdf

View BVdb publication page

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: KLF11: 659C>T; T220M

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Early-onset diabetes involving three consecutive generations had different clinical features from age-matched type 2 diabetes without a family history in China.

Endocrine

Wang, Da-Wei DW; Yuan, Jing J; Yang, Fang-Yuan FY; Qiu, Hai-Yan HY; Lu, Jing J; Yang, Jin-Kui JK

Publication Date: 2022-10

Variant appearance in text: MODY7: Thr220Met

PubMed Link: 35921062

Variant Present in the following documents:

• Main text
• 12020_2022_Article_3144.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: KLF11: T220M; rs34336420

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.

Diabetes

Laver, Thomas W TW; Wakeling, Matthew N MN; Knox, Olivia O; Colclough, Kevin K; Wright, Caroline F CF; Ellard, Sian S; Hattersley, Andrew T AT; Weedon, Michael N MN; Patel, Kashyap A KA

Publication Date: 2022-05-01

Variant appearance in text: KLF11: T220M

PubMed Link: 35108381

Variant Present in the following documents:

• Main text
• db210844.pdf

View BVdb publication page

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Clinical and Functional Characteristics of a Novel KLF11 Cys354Phe Variant Involved in Maturity-Onset Diabetes of the Young.

Journal Of Diabetes Research

Sun, Yujing Y; Qu, Jingru J; Wang, Jing J; Zhao, Ruxing R; Wang, Chuan C; Chen, Li L; Hou, Xinguo X

Publication Date: 2021

Variant appearance in text: KLF11: Thr220Met

PubMed Link: 33604390

Variant Present in the following documents:

• Main text
• JDR2021-7136869.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: KLF11: 659C>T; Thr220Met; rs34336420

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_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: KLF11: 659C>T; Thr220Met

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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Maturity-onset diabetes of the young: update and perspectives on diagnosis and treatment.

Yeungnam University Journal Of Medicine

Jang, Kyung Mi KM

Publication Date: 2020-01

Variant appearance in text: KLF11: Thr220Met

PubMed Link: 31914718

Variant Present in the following documents:

• Main text
• yujm-2019-00409.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: KLF11: 659C>T; rs34336420

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: KLF11: T220M; rs34336420

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives.

Frontiers In Endocrinology

Firdous, Parveena P; Nissar, Kamran K; Ali, Sajad S; Ganai, Bashir Ahmad BA; Shabir, Uzma U; Hassan, Toyeeba T; Masoodi, Shariq Rashid SR

Publication Date: 2018

Variant appearance in text: KLF11: Thr220Met

PubMed Link: 29867778

Variant Present in the following documents:

• Main text

View BVdb publication page

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Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial.

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

Kleinberger, Jeffrey W JW; Copeland, Kenneth C KC; Gandica, Rachelle G RG; Haymond, Morey W MW; Levitsky, Lynne L LL; Linder, Barbara B; Shuldiner, Alan R AR; Tollefsen, Sherida S; White, Neil H NH; Pollin, Toni I TI

Publication Date: 2018-06

Variant appearance in text: KLF11: T220M

PubMed Link: 29758564

Variant Present in the following documents:

• Main text
• nihms897685.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: KLF11: 659C>T; Thr220Met

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: KLF11: 659C>T; T220M

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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: KLF11: T220M; rs34336420

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.

Nature Communications

Wessel, Jennifer J; Chu, Audrey Y AY; Willems, Sara M SM; Wang, Shuai S; Yaghootkar, Hanieh H; Brody, Jennifer A JA; Dauriz, Marco M; Hivert, Marie-France MF; Raghavan, Sridharan S; Lipovich, Leonard L; Hidalgo, Bertha B; Fox, Keolu K; Huffman, Jennifer E JE; An, Ping P; Lu, Yingchang Y; Rasmussen-Torvik, Laura J LJ; Grarup, Niels N; Ehm, Margaret G MG; Li, Li L; Baldridge, Abigail S AS; Stančáková, Alena A; Abrol, Ravinder R; Besse, Céline C; Boland, Anne A; Bork-Jensen, Jette J; Fornage, Myriam M; Freitag, Daniel F DF; Garcia, Melissa E ME; Guo, Xiuqing X; Hara, Kazuo K; Isaacs, Aaron A; Jakobsdottir, Johanna J; Lange, Leslie A LA; Layton, Jill C JC; Li, Man M; Hua Zhao, Jing J; Meidtner, Karina K; Morrison, Alanna C AC; Nalls, Mike A MA; Peters, Marjolein J MJ; Sabater-Lleal, Maria M; Schurmann, Claudia C; Silveira, Angela A; Smith, Albert V AV; Southam, Lorraine L; Stoiber, Marcus H MH; Strawbridge, Rona J RJ; Taylor, Kent D KD; Varga, Tibor V TV; Allin, Kristine H KH; Amin, Najaf N; Aponte, Jennifer L JL; Aung, Tin T; Barbieri, Caterina C; Bihlmeyer, Nathan A NA; Boehnke, Michael M; Bombieri, Cristina C; Bowden, Donald W DW; Burns, Sean M SM; Chen, Yuning Y; Chen, Yii-DerI YD; Cheng, Ching-Yu CY; Correa, Adolfo A; Czajkowski, Jacek J; Dehghan, Abbas A; Ehret, Georg B GB; Eiriksdottir, Gudny G; Escher, Stefan A SA; Farmaki, Aliki-Eleni AE; Frånberg, Mattias M; Gambaro, Giovanni G; Giulianini, Franco F; Goddard, William A WA; Goel, Anuj A; Gottesman, Omri O; Grove, Megan L ML; Gustafsson, Stefan S; Hai, Yang Y; Hallmans, Göran G; Heo, Jiyoung J; Hoffmann, Per P; Ikram, Mohammad K MK; Jensen, Richard A RA; Jørgensen, Marit E ME; Jørgensen, Torben T; Karaleftheri, Maria M; Khor, Chiea C CC; Kirkpatrick, Andrea A; Kraja, Aldi T AT; Kuusisto, Johanna J; Lange, Ethan M EM; Lee, I T IT; Lee, Wen-Jane WJ; Leong, Aaron A; Liao, Jiemin J; Liu, Chunyu C; Liu, Yongmei Y; Lindgren, Cecilia M CM; Linneberg, Allan A; Malerba, Giovanni G; Mamakou, Vasiliki V; Marouli, Eirini E; Maruthur, Nisa M NM; Matchan, Angela A; McKean-Cowdin, Roberta R; McLeod, Olga O; Metcalf, Ginger A GA; Mohlke, Karen L KL; Muzny, Donna M DM; Ntalla, Ioanna I; Palmer, Nicholette D ND; Pasko, Dorota D; Peter, Andreas A; Rayner, Nigel W NW; Renström, Frida F; Rice, Ken K; Sala, Cinzia F CF; Sennblad, Bengt B; Serafetinidis, Ioannis I; Smith, Jennifer A JA; Soranzo, Nicole N; Speliotes, Elizabeth K EK; Stahl, Eli A EA; Stirrups, Kathleen K; Tentolouris, Nikos N; Thanopoulou, Anastasia A; Torres, Mina M; Traglia, Michela M; Tsafantakis, Emmanouil E; Javad, Sundas S; Yanek, Lisa R LR; Zengini, Eleni E; Becker, Diane M DM; Bis, Joshua C JC; Brown, James B JB; Cupples, L Adrienne LA; Hansen, Torben T; Ingelsson, Erik E; Karter, Andrew J AJ; Lorenzo, Carlos C; Mathias, Rasika A RA; Norris, Jill M JM; Peloso, Gina M GM; Sheu, Wayne H-H WH; Toniolo, Daniela D; Vaidya, Dhananjay D; Varma, Rohit R; Wagenknecht, Lynne E LE; Boeing, Heiner H; Bottinger, Erwin P EP; Dedoussis, George G; Deloukas, Panos P; Ferrannini, Ele E; Franco, Oscar H OH; Franks, Paul W PW; Gibbs, Richard A RA; Gudnason, Vilmundur V; Hamsten, Anders A; Harris, Tamara B TB; Hattersley, Andrew T AT; Hayward, Caroline C; Hofman, Albert A; Jansson, Jan-Håkan JH; Langenberg, Claudia C; Launer, Lenore J LJ; Levy, Daniel D; Oostra, Ben A BA; O'Donnell, Christopher J CJ; O'Rahilly, Stephen S; Padmanabhan, Sandosh S; Pankow, James S JS; Polasek, Ozren O; Province, Michael A MA; Rich, Stephen S SS; Ridker, Paul M PM; Rudan, Igor I; Schulze, Matthias B MB; Smith, Blair H BH; Uitterlinden, André G AG; Walker, Mark M; Watkins, Hugh H; Wong, Tien Y TY; Zeggini, Eleftheria E; , ; Laakso, Markku M; Borecki, Ingrid B IB; Chasman, Daniel I DI; Pedersen, Oluf O; Psaty, Bruce M BM; Tai, E Shyong ES; van Duijn, Cornelia M CM; Wareham, Nicholas J NJ; Waterworth, Dawn M DM; Boerwinkle, Eric E; Kao, W H Linda WH; Florez, Jose C JC; Loos, Ruth J F RJ; Wilson, James G JG; Frayling, Timothy M TM; Siscovick, David S DS; Dupuis, Josée J; Rotter, Jerome I JI; Meigs, James B JB; Scott, Robert A RA; Goodarzi, Mark O MO

Publication Date: 2015-01-29

Variant appearance in text: rs34336420

PubMed Link: 25631608

Variant Present in the following documents:

• ncomms6897-s1.pdf

View BVdb publication page

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Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Human Mutation

Rodriguez-Flores, Juan L JL; Fakhro, Khalid K; Hackett, Neil R NR; Salit, Jacqueline J; Fuller, Jennifer J; Agosto-Perez, Francisco F; Gharbiah, Maey M; Malek, Joel A JA; Zirie, Mahmoud M; Jayyousi, Amin A; Badii, Ramin R; Al-Nabet Al-Marri, Ajayeb A; Chouchane, Lotfi L; Stadler, Dora J DJ; Mezey, Jason G JG; Crystal, Ronald G RG

Publication Date: 2014-01

Variant appearance in text: KLF11: Thr220Met; rs34336420

PubMed Link: 24123366

Variant Present in the following documents:

• Main text

View BVdb publication page

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Krüppel-like factor 11 regulates the expression of metabolic genes via an evolutionarily conserved protein interaction domain functionally disrupted in maturity onset diabetes of the young.

The Journal Of Biological Chemistry

Lomberk, Gwen G; Grzenda, Adrienne A; Mathison, Angela A; Escande, Carlos C; Zhang, Jin-San JS; Calvo, Ezequiel E; Miller, Laurence J LJ; Iovanna, Juan J; Chini, Eduardo N EN; Fernandez-Zapico, Martin E ME; Urrutia, Raul R

Publication Date: 2013-06-14

Variant appearance in text: KLF11: T220M

PubMed Link: 23589285

Variant Present in the following documents:

• Main text
• zbc17745.pdf

View BVdb publication page

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MODY7 gene, KLF11, is a novel p300-dependent regulator of Pdx-1 (MODY4) transcription in pancreatic islet beta cells.

The Journal Of Biological Chemistry

Fernandez-Zapico, Martin E ME; van Velkinburgh, Jennifer C JC; Gutiérrez-Aguilar, Ruth R; Neve, Bernadette B; Froguel, Philippe P; Urrutia, Raul R; Stein, Roland R

Publication Date: 2009-12-25

Variant appearance in text: KLF11: T220M

PubMed Link: 19843526

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association analysis of Krüppel-like factor 11 variants with type 2 diabetes in Pima Indians.

The Journal Of Clinical Endocrinology And Metabolism

Ma, Lijun L; Hanson, Robert L RL; Que, Lorem N LN; Mack, Janel L JL; Franks, Paul W PW; Infante, Aniello M AM; Kobes, Sayuko S; Bogardus, Clifton C; Baier, Leslie J LJ

Publication Date: 2008-09

Variant appearance in text: KLF11: T220M; rs34336420

PubMed Link: 18593768

Variant Present in the following documents:

• Main text

View BVdb publication page

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The association of genetic variants in Krüppel-like factor 11 and Type 2 diabetes in the Japanese population.

Diabetic Medicine : A Journal Of The British Diabetic Association

Tanahashi, T T; Shinohara, K K; Keshavarz, P P; Yamaguchi, Y Y; Miyawaki, K K; Kunika, K K; Moritani, M M; Nakamura, N N; Yoshikawa, T T; Shiota, H H; Inoue, H H; Itakura, M M

Publication Date: 2008-01

Variant appearance in text: KLF11: T220M; rs34336420

PubMed Link: 18199129

Variant Present in the following documents:

• Main text
• dme0025-0019.pdf

View BVdb publication page

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Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Neve, Bernadette B; Fernandez-Zapico, Martin E ME; Ashkenazi-Katalan, Vered V; Dina, Christian C; Hamid, Yasmin H YH; Joly, Erik E; Vaillant, Emmanuel E; Benmezroua, Yamina Y; Durand, Emmanuelle E; Bakaher, Nicolas N; Delannoy, Valerie V; Vaxillaire, Martine M; Cook, Tiffany T; Dallinga-Thie, Geesje M GM; Jansen, Hans H; Charles, Marie-Aline MA; Clément, Karine K; Galan, Pilar P; Hercberg, Serge S; Helbecque, Nicole N; Charpentier, Guillaume G; Prentki, Marc M; Hansen, Torben T; Pedersen, Oluf O; Urrutia, Raul R; Melloul, Danielle D; Froguel, Philippe P

Publication Date: 2005-03-29

Variant appearance in text: KLF11: Thr220Met

PubMed Link: 15774581

Variant Present in the following documents:

• Main text

View BVdb publication page

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