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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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