HuGE Literature Finder
Diabetes
Records
1
-
30
| Evaluation of Evidence for Pathogenicity Demonstrates that BLK, KLF11 and PAX4 Should not be Included in Diagnostic Testing for MODY. Diabetes 2022 Feb . Laver Thomas W, Wakeling Matthew N, Knox Olivia, Colclough Kevin, Wright Caroline F, Ellard Sian, Hattersley Andrew T, Weedon Michael N, Patel Kashyap |
| The clinical characteristics and mutation search within monogenic diabetes genes in type 1 diabetes patients with long-term disease and preserved kidney function. Polish archives of internal medicine 2021 Nov . Hohendorff Jerzy, Kwiatkowska Magdalena, Pisarczyk-Wiza Dorota, Ludwig-S?omczy?ska Agnieszka, Milcarek Magdalena, Kapusta Przemys?aw, Zapa?a Barbara, Kie?-Wilk Beata, Trznadel-Morawska Iwona, Szopa Magdalena, Zozuli?ska-Zió?kiewicz Dorota, Ma?ecki Maciej |
| Monogenic Diabetes in Youth With Presumed Type 2 Diabetes: Results From the Progress in Diabetes Genetics in Youth (ProDiGY) Collaboration. Diabetes care 2021 Aug . Todd Jennifer N, Kleinberger Jeffrey W, Zhang Haichen, Srinivasan Shylaja, Tollefsen Sherida E, Levitsky Lynne L, Levitt Katz Lorraine E, Tryggestad Jeanie B, Bacha Fida, Imperatore Giuseppina, Lawrence Jean M, Pihoker Catherine, Divers Jasmin, Flannick Jason, Dabelea Dana, Florez Jose C, Pollin Toni |
| Genetic variants of ABCC8 and phenotypic features in Chinese early onset diabetes. Journal of diabetes 2020 Dec . Li Meng, Gong Siqian, Han Xueyao, Zhang Simin, Ren Qian, Cai Xiaoling, Luo Yingying, Zhou Lingli, Zhang Rui, Liu Wei, Zhu Yu, Zhou Xianghai, Sun Yanfang, Li Yufeng, Ma Yumin, Ji Lino |
| Genetic variants of TCF7L2 gene and its coherence with metabolic parameters in Lithuanian (Kaunas district) women population with previously diagnosed gestational diabetes mellitus compared to general population. Diabetes research and clinical practice 2020 Dec 108636. Francaite-Daugeliene Migle, Lesauskaite Vaiva, Tamosiunas Abdonas, Jasukaitiene Aldona, Velickiene Dzil |
| Pathogenic variants in actionable MODY genes are associated with type 2 diabetes. Nature metabolism 2020 Oct 2 (10): 1126-1134. Bonnefond Amélie, Boissel Mathilde, Bolze Alexandre, Durand Emmanuelle, Toussaint Bénédicte, Vaillant Emmanuel, Gaget Stefan, Graeve Franck De, Dechaume Aurélie, Allegaert Frédéric, Guilcher David Le, Yengo Loïc, Dhennin Véronique, Borys Jean-Michel, Lu James T, Cirulli Elizabeth T, Elhanan Gai, Roussel Ronan, Balkau Beverley, Marre Michel, Franc Sylvia, Charpentier Guillaume, Vaxillaire Martine, Canouil Mickaël, Washington Nicole L, Grzymski Joseph J, Froguel Philip |
| Analysis of APPL1 Gene Polymorphisms in Patients with a Phenotype of Maturity Onset Diabetes of the Young. Journal of personalized medicine 2020 Aug 10 (3): . Ivanoshchuk Dinara E, Shakhtshneider Elena V, Rymar Oksana D, Ovsyannikova Alla K, Mikhailova Svetlana V, Orlov Pavel S, Ragino Yuliya I, Voevoda Mikhail |
| Molecular Genetic Study in a Cohort of Iranian Families Suspected to Maturity-Onset Diabetes of the Young, Reveals a Recurrent Mutation and a High-Risk Variant in the CEL Gene. Advanced biomedical research 2020 9 25. Sarmadi Akram, Mohammadi Aliasgar, Tabatabaei Fatemeh, Nouri Zahra, Chaleshtori Morteza Hashemzadeh, Tabatabaiefar Mohammad Am |
| Whole-exome sequencing in Russian children with non-type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY-related and unrelated genes. Molecular medicine reports 2019 Oct . Glotov Oleg S, Serebryakova Elena A, Turkunova Mariia E, Efimova Olga A, Glotov Andrey S, Barbitoff Yury A, Nasykhova Yulia A, Predeus Alexander V, Polev Dmitrii E, Fedyakov Mikhail A, Polyakova Irina V, Ivashchenko Tatyana E, Shved Natalia Y, Shabanova Elena S, Tiselko Alena V, Romanova Olga V, Sarana Andrey M, Pendina Anna A, Scherbak Sergey G, Musina Ekaterina V, Petrovskaia-Kaminskaia Anastasiia V, Lonishin Liubov R, Ditkovskaya Liliya V, Zhelenina Liudmila ?, Tyrtova Ludmila V, Berseneva Olga S, Skitchenko Rostislav K, Suspitsin Evgenii N, Bashnina Elena B, Baranov Vladislav |
| Phenotype, genotype and glycaemic variability in people with activating mutations in the ABCC8 gene: response to appropriate therapy. Diabetic medicine : a journal of the British Diabetic Association 2019 Sep . Reilly F, Sanchez-Lechuga B, Clinton S, Crowe G, Burke M, Ng N, Colclough K, Byrne M |
| HNF1A gene p.I27L is associated with early-onset, maturity-onset diabetes of the young-like diabetes in Turkey. BMC endocrine disorders 2019 May 19 (1): 51. Beysel Selvihan, Eyerci Nilnur, Pinarli Ferda Alparslan, Kizilgul Muhammed, Ozcelik Ozgur, Caliskan Mustafa, Cakal Erm |
| Identifying Pathogenic Variants of Monogenic Diabetes Using Targeted Panel Sequencing in an East Asian Population. The Journal of clinical endocrinology and metabolism 2019 Apr . Park Seung Shin, Jang Se Song, Ahn Chang Ho, Kim Jung Hee, Jung Hye Seung, Cho Young Min, Lee Young Ah, Shin Choong Ho, Chae Jong Hee, Kim Jae Hyun, Choi Sung Hee, Jang Hak C, Bae Jee Cheol, Won Jong Cheol, Kim Sung-Hoon, Kim Jong-Il, Kwak Soo Heon, Park Kyong S |
| Increased frequency of rare missense PPP1R3B variants among Danish patients with type 2 diabetes. PloS one 2019 14 (1): e0210114. Niazi Robina Khan, Sun Jihua, Have Christian Theil, Hollensted Mette, Linneberg Allan, Pedersen Oluf, Nielsen Jens Steen, Rungby Jørgen, Grarup Niels, Hansen Torben, Gjesing Anette Pri |
| Sequencing reveals protective and pathogenic effects on development of diabetes of rare GLIS3 variants. PloS one 2019 14 (8): e0220805. Sun Jihua, Have Christian Theil, Hollensted Mette, Grarup Niels, Linneberg Allan, Pedersen Oluf, Nielsen Jens Steen, Rungby Jørgen, Christensen Cramer, Brandslund Ivan, Kristiansen Karsten, Jun Wang, Hansen Torben, Gjesing Anette |
Agnostic Pathway/Gene Set Analysis of Genome-Wide Association Data Identifies Associations for Pancreatic Cancer.
Journal of the National Cancer Institute 2018 Dec . Walsh Naomi, Zhang Han, Hyland Paula L, Yang Qi, Mocci Evelina, Zhang Mingfeng, Childs Erica J, Collins Irene, Wang Zhaoming, Arslan Alan A, Beane-Freeman Laura, Bracci Paige M, Brennan Paul, Canzian Federico, Duell Eric J, Gallinger Steven, Giles Graham G, Goggins Michael, Goodman Gary E, Goodman Phyllis J, Hung Rayjean J, Kooperberg Charles, Kurtz Robert C, Malats Núria, LeMarchand Loic, Neale Rachel E, Olson Sara H, Scelo Ghislaine, Shu Xiao O, Van Den Eeden Stephen K, Visvanathan Kala, White Emily, Zheng Wei, , Albanes Demetrius, Andreotti Gabriella, Babic Ana, Bamlet William R, Berndt Sonja I, Borgida Ayelet, Boutron-Ruault Marie-Christine, Brais Lauren, Brennan Paul, Bueno-de-Mesquita Bas, Buring Julie, Chaffee Kari G, Chanock Stephen, Cleary Sean, Cotterchio Michelle, Foretova Lenka, Fuchs Charles, M Gaziano J Michael, Giovannucci Edward, Goggins Michael, Hackert Thilo, Haiman Christopher, Hartge Patricia, Hasan Manal, Helzlsouer Kathy J, Herman Joseph, Holcatova Ivana, Holly Elizabeth A, Hoover Robert, Hung Rayjean J, Janout Vladimir, Klein Eric A, Kurtz Robert C, Laheru Daniel, Lee I-Min, Lu Lingeng, Malats Núria, Mannisto Satu, Milne Roger L, Oberg Ann L, Orlow Irene, Patel Alpa V, Peters Ulrike, Porta Miquel, Real Francisco X, Rothman Nathaniel, Sesso Howard D, Severi Gianluca, Silverman Debra, Strobel Oliver, Sund Malin, Thornquist Mark D, Tobias Geoffrey S, Wactawski-Wende Jean, Wareham Nick, Weiderpass Elisabete, Wentzensen Nicolas, Wheeler William, Yu Herbert, Zeleniuch-Jacquotte Anne, Kraft Peter, Li Donghui, Jacobs Eric J, Petersen Gloria M, Wolpin Brian M, Risch Harvey A, Amundadottir Laufey T, Yu Kai, Klein Alison P, Stolzenberg-Solomon Rachael |
| Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort. Pediatric diabetes 2018 Sep . Johnson Stephanie R, Ellis Jonathan J, Leo Paul, Anderson Lisa K, Ganti Uma, Harris Jessica E, Curran Jacqueline A, McInerney-Leo Aideen, Paramalingam Nirubasini, Song Xiaoxia, Conwell Louise S, Harris Mark, Jones Timothy W, Brown Matthew A, Davis Elizabeth A, Duncan Emma |
| Maturity onset diabetes of the young due to HNF1A variants in Croatia. Biochemia medica 2018 Jun 28 (2): 020703. Pavi? Tamara, Juszczak Agata, Pape Medvidovi? Edita, Burrows Carla, Šekerija Mario, Bennett Amanda J, ?u?a Kneževi? Jadranka, Gloyn Anna L, Lauc Gordan, McCarthy Mark I, Gornik Olga, Owen Katharine |
| The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY. Diabetes 2018 Jun . Locke Jonathan M, Saint-Martin Cécile, Laver Thomas W, Patel Kashyap A, Wood Andrew R, Sharp Seth A, Ellard Sian, Bellanné-Chantelot Christine, Hattersley Andrew T, Harries Lorna W, Weedon Michael |
| Determination of the mutational landscape in Taiwanese patients with papillary thyroid cancer by whole-exome sequencing. Human pathology 2018 May . Chang Chun-Chi, Chang Ya-Sian, Huang Hsi-Yuan, Yeh Kun-Tu, Liu Ta-Chih, Chang Jan-Gow |
| Mexican Carriers of the HNF1A p.E508K Variant Do Not Experience an Enhanced Response to Sulfonylureas. Diabetes care 2018 May . Martagón Alexandro J, Bello-Chavolla Omar Yaxmehen, Arellano-Campos Olimpia, Almeda-Valdés Paloma, Walford Geoffrey A, Cruz-Bautista Ivette, Gómez-Velasco Donají V, Mehta Roopa, Muñoz-Hernández Liliana, Sevilla-González Magdalena, Viveros-Ruiz Tannia L, Ordoñez-Sánchez María Luisa, Rodríguez-Guillen Rosario, Florez Jose C, Tusié-Luna María Teresa, Aguilar-Salinas Carlos A, |
| Polymorphism of the GLIS3 gene in a Caucasian population and among individuals with carbohydrate metabolism disorders in Russia. BMC research notes 2018 Apr 11 (1): 211. Shakhtshneider E V, Mikhailova S V, Ivanoshchuk D E, Orlov P S, Ovsyannikova A K, Rymar O D, Ragino Yu I, Voevoda M |
| Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India. BMC medical genetics 2018 Feb 19 (1): 22. Mohan Viswanathan, Radha Venkatesan, Nguyen Thong T, Stawiski Eric W, Pahuja Kanika Bajaj, Goldstein Leonard D, Tom Jennifer, Anjana Ranjit Mohan, Kong-Beltran Monica, Bhangale Tushar, Jahnavi Suresh, Chandni Radhakrishnan, Gayathri Vijay, George Paul, Zhang Na, Murugan Sakthivel, Phalke Sameer, Chaudhuri Subhra, Gupta Ravi, Zhang Jingli, Santhosh Sam, Stinson Jeremy, Modrusan Zora, Ramprasad V L, Seshagiri Somasekar, Peterson Andrew |
| Maturity Onset Diabetes of the Young (MODY) in Tunisia: Low frequencies of GCK and HNF1A mutations. Gene 2018 Feb . Ben Khelifa S, Martinez R, Dandana A, Khochtali I, Ferchichi S, Castaño |
| Glucokinase mutations in pediatric patients with impaired fasting glucose. Acta diabetologica 2017 Oct 54 (10): 913-923. Aloi C, Salina A, Minuto N, Tallone R, Lugani F, Mascagni A, Mazza O, Cassanello M, Maghnie M, d'Annunzio |
| MODY in Ukraine: genes, clinical phenotypes and treatment. Journal of pediatric endocrinology & metabolism : JPEM 2017 Oct 30 (10): 1095-1103. Globa Evgenia, Zelinska Nataliya, Elblova Lenka, Dusatkova Petra, Cinek Ondrej, Lebl Jan, Colclough Kevin, Ellard Sian, Pruhova Stepan |
| The prevalence of monogenic diabetes in Australia: the Fremantle Diabetes Study Phase II. The Medical journal of Australia 2017 Oct 207 (8): 344-347. Davis Timothy Me, Makepeace Ashley E, Ellard Sian, Colclough Kevin, Peters Kirsten, Hattersley Andrew, Davis Wendy |
| Whole-exome sequencing identifies a novel INS mutation causative of maturity-onset diabetes of the young 10. Journal of molecular cell biology 2017 Aug . Yan Jing, Jiang Feng, Zhang Rong, Xu Tongfu, Zhou Zhou, Ren Wei, Peng Danfeng, Liu Yong, Hu Cheng, Jia Weipi |
| High Prevalence of Diabetes-Predisposing Variants in MODY Genes Among Danish Women With Gestational Diabetes Mellitus. Journal of the Endocrine Society 2017 Jun 1 (6): 681-690. Gjesing Anette P, Rui Gao, Lauenborg Jeannet, Have Christian Theil, Hollensted Mette, Andersson Ehm, Grarup Niels, Sun Jihua, Quan Shi, Brandslund Ivan, Damm Peter, Pedersen Oluf, Wang Jun, Hansen Torb |
| Variants in MODY genes associated with maternal lipids profiles in second trimester of pregnancy. The journal of gene medicine 2017 Jun . Wang Xiaojing, Li Wei, Ma Liangkun, Ping Fan, Liu Juntao, Wu Xueyan, Mao Jiangfeng, Wang Xi, Nie M |
| Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nature communications 2017 10 8 (1): 888. Patel Kashyap A, Kettunen Jarno, Laakso Markku, Stancáková Alena, Laver Thomas W, Colclough Kevin, Johnson Matthew B, Abramowicz Marc, Groop Leif, Miettinen Päivi J, Shepherd Maggie H, Flanagan Sarah E, Ellard Sian, Inagaki Nobuya, Hattersley Andrew T, Tuomi Tiinamaija, Cnop Miriam, Weedon Michael |
- Page last reviewed:Jul 25, 2022
- Page last updated:Nov 22, 2022
- Content source: