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Items: 1 to 20 of 79

1.
A rare combination of MODY5 and duodenal atresia in a patient: a case report
Tao Du, Nan Zeng, Xiaofang Wen, Peizhuang Zhu, Wangen Li
BMC Med Genet. 2020; 21: 24. Published online 2020 Feb 6. doi: 10.1186/s12881-020-0954-0
PMCID:
PMC7006404
AbstractArticlePDF–932K
2.
Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY
Thomas W. Laver, Matthew N. Wakeling, Olivia Knox, Kevin Colclough, Caroline F. Wright, Sian Ellard, Andrew T. Hattersley, Michael N. Weedon, Kashyap A. Patel
Diabetes. 2022 May; 71(5): 1128–1136. Published online 2022 Feb 2. doi: 10.2337/db21-0844
PMCID:
PMC9044126
AbstractArticlePDF–875K
3.
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes
Yisheng Yang, Lawrence Chan
Endocr Rev. 2016 Jun; 37(3): 190–222. Published online 2016 Mar 30. doi: 10.1210/er.2015-1116
PMCID:
PMC4890265
AbstractArticle
4.
Multi-Domain Integration in the Structure of the HNF4a Nuclear Receptor Complex
Vikas Chandra, Pengxiang Huang, Nalini Potluri, Dalei Wu, Youngchang Kim, Fraydoon Rastinejad
Nature. Author manuscript; available in PMC 2013 Sep 21.
Published in final edited form as: Nature. 2013 Mar 21; 495(7441): 394–398. Published online 2013 Mar 13. doi: 10.1038/nature11966
PMCID:
PMC3606643
AbstractArticlePDF–1.3M
5.
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
Gwen Lomberk, Adrienne Grzenda, Angela Mathison, Carlos Escande, Jin-San Zhang, Ezequiel Calvo, Laurence J. Miller, Juan Iovanna, Eduardo N. Chini, Martin E. Fernandez-Zapico, Raul Urrutia
J Biol Chem. 2013 Jun 14; 288(24): 17745–17758. Published online 2012 Apr 15. doi: 10.1074/jbc.M112.434670
PMCID:
PMC3682574
AbstractArticlePDF–3.6M
6.
Identification of Candidate Children for Maturity-Onset Diabetes of the Young Type 2 (MODY2) Gene Testing: A Seven-Item Clinical Flowchart (7-iF)
Michele Pinelli, Fabio Acquaviva, Fabrizio Barbetti, Elisabetta Caredda, Sergio Cocozza, Maurizio Delvecchio, Enza Mozzillo, Daniele Pirozzi, Francesco Prisco, Ivana Rabbone, Lucia Sacchetti, Nadia Tinto, Sonia Toni, Stefano Zucchini, Dario Iafusco, Italian Study Group on Diabetes of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED)
PLoS One. 2013; 8(11): e79933. Published online 2013 Nov 11. doi: 10.1371/journal.pone.0079933
PMCID:
PMC3823596
AbstractArticlePDF–443K
7.
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant mendelian form of diabetes
Jason Flannick, Nicola L Beer, Alexander G Bick, Vineeta Agarwala, Janne Molnes, Namrata Gupta, Noel P Burtt, Jose C Florez, James B Meigs, Herman Taylor, Valeriya Lyssenko, Henrik Irgens, Ervin Fox, Frank Burslem, Stefan Johansson, M Julia Brosnan, Jeff K Trimmer, Christopher Newton-Cheh, Tiinamaija Tuomi, Anders Molven, James G Wilson, Christopher J O'Donnell, Sekar Kathiresan, Joel N Hirschhorn, Pål R Njølstad, Tim Rolph, J.G. Seidman, Stacey Gabriel, David R Cox, Christine Seidman, Leif Groop, David Altshuler
Nat Genet. Author manuscript; available in PMC 2014 Jun 10.
Published in final edited form as: Nat Genet. 2013 Nov; 45(11): 1380–1385. Published online 2013 Oct 6. doi: 10.1038/ng.2794
PMCID:
PMC4051627
AbstractArticlePDF–846K
8.
Gene-Specific Function Prediction for Non-Synonymous Mutations in Monogenic Diabetes Genes
Quan Li, Xiaoming Liu, Richard A. Gibbs, Eric Boerwinkle, Constantin Polychronakos, Hui-Qi Qu
PLoS One. 2014; 9(8): e104452. Published online 2014 Aug 19. doi: 10.1371/journal.pone.0104452
PMCID:
PMC4138110
AbstractArticlePDF–212K
9.
Structural and Functional Study of the GlnB22-Insulin Mutant Responsible for Maturity-Onset Diabetes of the Young
Květoslava Křížková, Václav Veverka, Lenka Maletínská, Rozálie Hexnerová, Andrzej M. Brzozowski, Jiří Jiráček, Lenka Žáková
PLoS One. 2014; 9(11): e112883. Published online 2014 Nov 25. doi: 10.1371/journal.pone.0112883
PMCID:
PMC4244080
AbstractArticlePDF–877K
10.
Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population
The SIGMA Type 2 Diabetes Consortium
JAMA. Author manuscript; available in PMC 2015 May 9.
Published in final edited form as: JAMA. 2014 Jun 11; 311(22): 2305–2314. doi: 10.1001/jama.2014.6511
Correction in:
on page 312(18):1932
PMCID:
PMC4425850
AbstractArticlePDF–761K
11.
A Novel Mutation of the HNF1B Gene Associated With Hypoplastic Glomerulocystic Kidney Disease and Neonatal Renal Failure: A Case Report and Mutation Update
Maria Inês Alvelos, Magda Rodrigues, Luísa Lobo, Ana Medeira, Ana Berta Sousa, Carla Simão, Manuel Carlos Lemos
Medicine (Baltimore) 2015 Feb; 94(7): e469. Published online 2015 Feb 20. doi: 10.1097/MD.0000000000000469
PMCID:
PMC4554182
AbstractArticlePDF–326K
12.
Phenotypic Characterization of Mice Carrying Homozygous Deletion of KLF11, a Gene in Which Mutations Cause Human Neonatal and MODY VII Diabetes
Angela Mathison, Carlos Escande, Ezequiel Calvo, Seungmae Seo, Thomas White, Ann Salmonson, William A. Faubion, Jr, Navtej Buttar, Juan Iovanna, Gwen Lomberk, Eduardo N. Chini, Raul Urrutia
Endocrinology. 2015 Oct; 156(10): 3581–3595. Published online 2015 Aug 6. doi: 10.1210/en.2015-1145
PMCID:
PMC4588811
AbstractArticle
13.
Metabolite Profiling Reveals Normal Metabolic Control in Carriers of Mutations in the Glucokinase Gene (MODY2)
Peter Spégel, Ella Ekholm, Tiinamaija Tuomi, Leif Groop, Hindrik Mulder, Karin Filipsson
Diabetes. 2013 Feb; 62(2): 653–661. Published online 2013 Jan 17. doi: 10.2337/db12-0827
PMCID:
PMC3554352
AbstractArticlePDF–841K
14.
GCK gene mutations are a common cause of childhood‐onset MODY (maturity‐onset diabetes of the young) in Turkey
Belma Haliloglu, Gerald Hysenaj, Zeynep Atay, Tulay Guran, Saygın Abalı, Serap Turan, Abdullah Bereket, Sian Ellard
Clin Endocrinol (Oxf) 2016 Sep; 85(3): 393–399. Published online 2016 Jul 5. doi: 10.1111/cen.13121
PMCID:
PMC4988380
AbstractArticlePDF–177K
15.
Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the UK pediatric diabetes population with monogenic diabetes
Maggie Shepherd, Beverley Shields, Suzanne Hammersley, Michelle Hudson, Timothy J McDonald, Kevin Colclough, Richard A Oram, Bridget Knight, Christopher Hyde, Julian Cox, Katherine Mallam, Christopher Moudiotis, Rebecca Smith, Barbara Fraser, Simon Robertson, Stephen Greene, Sian Ellard, Ewan R Pearson, Andrew T Hattersley
Diabetes Care. Author manuscript; available in PMC 2016 Dec 9.
Published in final edited form as: Diabetes Care. 2016 Nov; 39(11): 1879–1888. Published online 2016 Jun 6. doi: 10.2337/dc16-0645
PMCID:
PMC5018394
AbstractArticlePDF–796K
16.
Hypoxia reduces HNF4α/MODY1 protein expression in pancreatic β-cells by activating AMP-activated protein kinase
Yoshifumi Sato, Tomonori Tsuyama, Chinami Sato, Md. Fazlul Karim, Tatsuya Yoshizawa, Masahiro Inoue, Kazuya Yamagata
J Biol Chem. 2017 May 26; 292(21): 8716–8728. Published online 2017 Mar 31. doi: 10.1074/jbc.M116.767574
PMCID:
PMC5448099
AbstractArticlePDF–2.2M
17.
Phenotype Heterogeneity in Glucokinase–Maturity-Onset Diabetes of the Young (GCK-MODY) Patients
Anna Wędrychowicz, Ewa Tobór, Magdalena Wilk, Ewa Ziółkowska-Ledwith, Anna Rams, Katarzyna Wzorek, Barbara Sabal, Małgorzata Stelmach, Jerzy B. Starzyk
J Clin Res Pediatr Endocrinol. 2017 Sep; 9(3): 246–252. Published online 2017 Sep 1. doi: 10.4274/jcrpe.4461
PMCID:
PMC5596806
AbstractArticlePDF–246K
18.
Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India
Viswanathan Mohan, Venkatesan Radha, Thong T. Nguyen, Eric W. Stawiski, Kanika Bajaj Pahuja, Leonard D. Goldstein, Jennifer Tom, Ranjit Mohan Anjana, Monica Kong-Beltran, Tushar Bhangale, Suresh Jahnavi, Radhakrishnan Chandni, Vijay Gayathri, Paul George, Na Zhang, Sakthivel Murugan, Sameer Phalke, Subhra Chaudhuri, Ravi Gupta, Jingli Zhang, Sam Santhosh, Jeremy Stinson, Zora Modrusan, V. L. Ramprasad, Somasekar Seshagiri, Andrew S. Peterson
BMC Med Genet. 2018; 19: 22. Published online 2018 Feb 13. doi: 10.1186/s12881-018-0528-6
PMCID:
PMC5811965
AbstractArticlePDF–1.6M
19.
Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population
Laeya Abdoli Najmi, Ingvild Aukrust, Jason Flannick, Janne Molnes, Noel Burtt, Anders Molven, Leif Groop, David Altshuler, Stefan Johansson, Lise Bjørkhaug, Pål Rasmus Njølstad
Diabetes. 2017 Feb; 66(2): 335–346. Published online 2016 Nov 29. doi: 10.2337/db16-0460
PMCID:
PMC5860263
AbstractArticlePDF–1.0M
20.
Genome-wide analysis of PDX1 target genes in human pancreatic progenitors
Xianming Wang, Michael Sterr, Ingo Burtscher, Shen Chen, Anja Hieronimus, Fausto Machicao, Harald Staiger, Hans-Ulrich Häring, Gabriele Lederer, Thomas Meitinger, Filippo M. Cernilogar, Gunnar Schotta, Martin Irmler, Johannes Beckers, Martin Hrabě de Angelis, Michael Ray, Christopher V.E. Wright, Mostafa Bakhti, Heiko Lickert
Mol Metab. 2018 Mar; 9: 57–68. Published online 2018 Jan 31. doi: 10.1016/j.molmet.2018.01.011
PMCID:
PMC5870105
AbstractArticlePDF–3.1M

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