KLF11 c.185A>G ;(p.Q62R)

Variant ID: 2-10186419-A-G

NM_003597.4(KLF11):c.185A>G;(p.Q62R)

This variant was identified in 34 publications

View GRCh38 version.




Publications:


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: rs35927125
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



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: Gln62Arg
PubMed Link: 36573710
Variant Present in the following documents:
  • Main text
  • jpm-12-01762.pdf
View BVdb publication page



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: Q62R
PubMed Link: 36361703
Variant Present in the following documents:
  • Main text
  • ijms-23-12910.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: KLF11: Q62R
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



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: 185A>G; Q62R
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



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: Q62R
PubMed Link: 35108381
Variant Present in the following documents:
  • Main text
  • db210844.pdf
View BVdb publication page



Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation.

Frontiers In Endocrinology
Moalla, Mariam M; Safi, Wajdi W; Babiker Mansour, Maab M; Hadj Kacem, Mohamed M; Mahfood, Mona M; Abid, Mohamed M; Kammoun, Thouraya T; Hachicha, Mongia M; Mnif-Feki, Mouna M; Hadj Kacem, Faten F; Hadj Kacem, Hassen H
Publication Date: 2021

Variant appearance in text: KLF11: 185A>G; Gln62Arg; rs35927125
PubMed Link: 34393998
Variant Present in the following documents:
  • Main text
  • fendo-12-684018.pdf
View BVdb publication page



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: Gln62Arg
PubMed Link: 33604390
Variant Present in the following documents:
  • Main text
  • JDR2021-7136869.pdf
View BVdb publication page



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: 185A>G; Gln62Arg
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Cardiometabolic Risk Factors and Benign Gynecologic Disorders.

Obstetrical & Gynecological Survey
AlAshqar, Abdelrahman A; Patzkowsky, Kristin K; Afrin, Sadia S; Wild, Robert R; Taylor, Hugh S HS; Borahay, Mostafa A MA
Publication Date: 2019-11

Variant appearance in text: KLF11: Q62R
PubMed Link: 31755543
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: KLF11: 185A>G; Gln62Arg; rs35927125
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: KLF11: Q62R; rs35927125
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: KLF11: 185A>G; Gln62Arg
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



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: rs35927125
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
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: rs35927125
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



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

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: KLF11: Q62R
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



The Krüppel-Like Factors and Control of Energy Homeostasis.

Endocrine Reviews
Hsieh, Paishiun N PN; Fan, Liyan L; Sweet, David R DR; Jain, Mukesh K MK
Publication Date: 2019-02-01

Variant appearance in text: KLF11: Gln62Arg
PubMed Link: 30307551
Variant Present in the following documents:
  • Main text
View BVdb publication page



Krüppel-like factors: Crippling and un-crippling metabolic pathways.

Jacc. Basic To Translational Science
Pollak, Nina M NM; Hoffman, Matthew M; Goldberg, Ira J IJ; Drosatos, Konstantinos K
Publication Date: 2018-02

Variant appearance in text: KLF11: Q62R
PubMed Link: 29876529
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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: Gln62Arg
PubMed Link: 29867778
Variant Present in the following documents:
  • Main text
View BVdb publication page



HbA1c is associated with altered expression in blood of cell cycle- and immune response-related genes.

Diabetologia
Slieker, Roderick C RC; van der Heijden, Amber A W A AAWA; van Leeuwen, Nienke N; Mei, Hailiang H; Nijpels, Giel G; Beulens, Joline W J JWJ; 't Hart, Leen M LM
Publication Date: 2018-01

Variant appearance in text: KLF11: Q62R
PubMed Link: 29159468
Variant Present in the following documents:
  • 125_2017_Article_4467.pdf
View BVdb publication page



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: 185A>G; Gln62Arg
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



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: MODY7: Q62R; rs35927125
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: KLF11: Q62R; rs35927125
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: KLF11: Q62R; rs35927125
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: KLF11: Q62R; rs35927125
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs35927125
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Genetic associations with diabetes: meta-analyses of 10 candidate polymorphisms.

Plos One
Tang, Linlin L; Wang, Lingyan L; Liao, Qi Q; Wang, Qinwen Q; Xu, Leiting L; Bu, Shizhong S; Huang, Yi Y; Zhang, Cheng C; Ye, Huadan H; Xu, Xuting X; Liu, Qiong Q; Ye, Meng M; Mai, Yifeng Y; Duan, Shiwei S
Publication Date: 2013

Variant appearance in text: KLF11: Q62R; rs35927125
PubMed Link: 23922971
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Q62R
PubMed Link: 23589285
Variant Present in the following documents:
  • Main text
  • zbc17745.pdf
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: rs35927125
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s009.xlsx, sheet 1
View BVdb publication page



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: Q62R
PubMed Link: 19843526
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Q62R; rs35927125
PubMed Link: 18593768
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Q62R; rs35927125
PubMed Link: 18199129
Variant Present in the following documents:
  • Main text
  • dme0025-0019.pdf
View BVdb publication page



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: Gln62Arg
PubMed Link: 15774581
Variant Present in the following documents:
  • Main text
View BVdb publication page