Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 195 Records) |
Query Trace: HNF4A[original query] |
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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 |
Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic. Scientific reports 2021 8 11 (1): 16060. Al-Kandari Hessa, Al-Abdulrazzaq Dalia, Davidsson Lena, Nizam Rasheeba, Jacob Sindhu, Melhem Motasem, John Sumi Elsa, Al-Mulla Fa |
Genetic differences between lung metastases and liver metastases from left-sided microsatellite stable colorectal cancer: next generation sequencing and clinical implications. Annals of translational medicine 2021 Jun 9 (12): 967. Wang Zhenghang, Zheng Xue, Wang Xicheng, Chen Yawei, Li Zhongwu, Yu Jianing, Yang Wanning, Mao Beibei, Zhang Henghui, Li Jian, Shen L |
Low genetic confirmation rate in South Indian subjects with a clinical diagnosis of maturity-onset diabetes of the young (MODY) who underwent targeted next-generation sequencing for 13 genes. Journal of endocrinological investigation 2021 11 45 (3): 607-615. Sampathkumar G, Valiyaparambil P P, Kumar H, Bhavani N, Nair V, Menon U, Menon A, Abraham N, Chapla A, Thomas |
Polymorphisms in Genes of Lipid Metabolism Are Associated with Type 2 Diabetes Mellitus and Periodontitis, as Comorbidities, and with the Subjects' Periodontal, Glycemic, and Lipid Profiles. Journal of diabetes research 2021 11 2021 1049307. Nicchio Ingra G, Cirelli Thamiris, Nepomuceno Rafael, Hidalgo Marco A R, Rossa Carlos, Cirelli Joni A, Orrico Silvana R P, Barros Silvana P, Theodoro Letícia H, Scarel-Caminaga Raquel |
Relevance of NR1I2 variants on carbamazepine therapy in Mexican Mestizos with epilepsy at a tertiary-care hospital. Pharmacogenomics 2021 10 22 (15): 983-996. Fricke-Galindo Ingrid, Jung-Cook Helgi, Martínez-Juárez Iris E, Monroy-Jaramillo Nancy, Ortega-Vázquez Alberto, Rojas-Tomé Irma S, Dorado Pedro, Peñas-Lledó Eva, Llerena Adrián, López-López Maris |
Cytochrome P450-2D6: A novel biomarker in liver cancer health disparity. PloS one 2021 10 16 (10): e0257072. Khamis Zahraa I, Pang Xiaodong, Cui Zihan, Sang Qing-Xiang Amy, Zhang Jinfe |
Study of the frequency and clinical features of maturity-onset diabetes in the young in the pediatric and adolescent diabetes population in Iran. Journal of pediatric endocrinology & metabolism : JPEM 2022 9 35 (10): 1240-1249. Zamanfar Daniel, Ferdosipour Fatemeh, Ebrahimi Pirooz, Moghadam Mohamad, Amoli Mahsa M, Asadi Mojgan, Monajati Mahi |
Monogenic diabetes in adults: A multi-ancestry study reveals strong disparities in diagnosis rates and clinical presentation. Diabetes research and clinical practice 2022 5 188 109908. Mifsud F, Saint-Martin C, Dubois-Laforgue D, Bouvet D, Timsit J, Bellanné-Chantelot C, |
Achievements, prospects and challenges in precision care for monogenic insulin-deficient and insulin-resistant diabetes. Diabetologia 2022 5 65 (11): 1782-1795. Bonnefond Amélie, Semple Robert |
Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil. Frontiers in endocrinology 2022 5 13 827325. Abreu Gabriella de Medeiros, Tarantino Roberta Magalhães, da Fonseca Ana Carolina Proença, Andrade Juliana Rosa Ferreira de Oliveira, de Souza Ritiele Bastos, Soares Camila de Almeida Pereira Dias, Cambraia Amanda, Cabello Pedro Hernan, Rodacki Melanie, Zajdenverg Lenita, Zembrzuski Verônica Marques, Campos Junior Már |
Positive selection acts on regulatory genetic variants in populations of European ancestry that affect ALDH2 gene expression. Scientific reports 2022 3 12 (1): 4563. Schaschl Helmut, Göllner Tobias, Morris David |
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 |
Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes. Journal of diabetes investigation 2022 12 . Yorifuji Tohru, Watanabe Yoh, Kitayama Kana, Yamada Yuki, Higuchi Shinji, Mori Jun, Kato Masaru, Takahashi Toru, Okuda Tokuko, Aoyama Taka |
Chromosomally Unstable Gastric Cancers Overexpressing Claudin-6 Disclose Cross-Talk between HNF1A and HNF4A, and Upregulated Cholesterol Metabolism. International journal of molecular sciences 2022 11 23 (22): . Dwivedi Sanyog, Hernández-Montes Georgina, Montaño Luis Felipe, Rendón-Huerta Erika Patric |
Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register. Diabetologia 2022 11 66 (3): 438-449. Harsunen Minna, Kettunen Jarno L T, Härkönen Taina, Dwivedi Om, Lehtovirta Mikko, Vähäsalo Paula, Veijola Riitta, Ilonen Jorma, Miettinen Päivi J, Knip Mikael, Tuomi Tiinamai |
Monogenic diabetes variants in Emirati women with gestational diabetes are associated with risk of non-autoimmune diabetes within 5 years after pregnancy. Metabolism open 2022 11 16 100213. Daggag Hinda, Gjesing Anette P, Mohammad Alshafi, Ängquist Lars, Shobi Bindu, Antony Suma, Haj Dalia, Al Tikriti Alia, Buckley Adam, Hansen Torben, Barakat Maha |
An effective preselection criterion for MODY with an increasingly positive genetic testing rate by NGS: results from two cohorts of Chinese children. American journal of physiology. Endocrinology and metabolism 2022 11 323 (6): E529-E534. Cao Bingyan, Liu Meijuan, Zhang Yingxian, Chen Jiajia, Li Xiaoqiao, Su Chang, Yang Wei, Liu Min, Wu Di, Li Wenjing, Liang Xuejun, Wang Qiao, Wei Haiyan, Gong Chunx |
Maturity-onset diabetes of the young in a large Portuguese cohort. Acta diabetologica 2022 Oct . Santos Monteiro Sílvia, da Silva Santos Tiago, Fonseca Liliana, Assunção Guilherme, Lopes Ana M, Duarte Diana B, Soares Ana Rita, Laranjeira Francisco, Ribeiro Isaura, Pinto Eugénia, Rocha Sónia, Barbosa Gouveia Sofia, Vazquez-Mosquera María Eugenia, Oliveira Maria João, Borges Teresa, Cardoso Maria Hele |
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort. Endocrinology, diabetes & metabolism 2022 Oct e372. Billings Liana K, Shi Zhuqing, Resurreccion W Kyle, Wang Chi-Hsiung, Wei Jun, Pollin Toni I, Udler Miriam S, Xu Jianfe |
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts. American journal of human genetics 2022 10 109 (11): 2018-2028. Mirshahi Uyenlinh L, Colclough Kevin, Wright Caroline F, Wood Andrew R, Beaumont Robin N, Tyrrell Jessica, Laver Thomas W, Stahl Richard, Golden Alicia, Goehringer Jessica M, , Frayling Timothy F, Hattersley Andrew T, Carey David J, Weedon Michael N, Patel Kashyap |
A single nucleotide polymorphism-based formula to predict the risk of propofol TCI concentration being over 4?µg?mL at the time of loss of consciousness. The pharmacogenomics journal 2022 1 22 (2): 109-116. Zheng Zhuoling, Xue Faling, Wang Haini, He Yongqi, Zhang Lingyi, Ma Wudi, Zhang Caibin, Guan Yanping, Ye Fang, Wen Yongzi, Li Xiaoyan, Huang Min, Huang Wenqi, Wang Zhongxing, Li Jia |
Role of monogenic diabetes genes on beta cell function in Italian patients with newly diagnosed type 2 diabetes. The Verona Newly Diagnosed Type 2 Diabetes Study (VNDS) 13. Diabetes & metabolism 2022 1 48 (4): 101323. Bonetti S, Zusi C, Rinaldi E, Boselli M L, Csermely A, Malerba G, Trabetti E, Bonora E, Bonadonna R C, Trombetta |
Functional interrogation of twenty type 2 diabetes-associated genes using isogenic hESC-derived ?-like cells. bioRxiv : the preprint server for biology 2023 5 . Dongxiang Xue, Narisu Narisu, D Leland Taylor, Meili Zhang, Caleb Grenko, Henry J Taylor, Tingfen Yan, Xuming Tang, Neelam Sinha, Jiajun Zhu, J Jeya Vandana, Angie Chi Nok Chong, Angela Lee, Erin C Mansell, Amy J Swift, Michael R Erdos, Ting Zhou, Lori L Bonnycastle, Aaron Zhong, Shuibing Chen, Francis S Colli |
Prevalence, clinical features and complications of common forms of Maturity Onset Diabetes of the Young (MODY) seen at a tertiary diabetes centre in south India. Primary care diabetes 2023 4 . Aarthy Ramasamy, Aston-Mourney Kathryn, Amutha Anandakumar, Mikocka-Walus Antonina, Anjana Ranjit Mohan, Unnikrishnan Ranjit, Jebarani Saravanan, Venkatesan Ulagamathesan, Gopi Sundaramoorthy, Radha Venkatesan, Mohan Viswanath |
Decoding type 2 diabetes mellitus genetic risk variants in Pakistani Pashtun ethnic population using the nascent whole exome sequencing and MassARRAY genotyping: A case-control association study. PloS one 2023 2 18 (1): e0281070. Jan Asif, Zakiullah , Ali Sajid, Muhammad Basir, Arshad Amina, Shah Yasar, Bahadur Haji, Khan Hamayun, Khuda Fazli, Akbar Rani, Ijaz Kir |
Association between HNF4A rs1800961 polymorphisms and gallstones in a Taiwanese population. Journal of gastroenterology and hepatology 2023 12 . Ying-Cheng Lin, I-Chieh Chen, Yen-Ju Chen, Ching-Tsai Lin, Jui-Chun Chang, Tsai-Jung Wang, Yi-Ming Chen, Ching-Heng L |
Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus. Journal of clinical research in pediatric endocrinology 2023 12 . Enver ?im?ek, Oguz Cilingir, Tulay Simsek, Sinem Kocagil, Ebru Erzurumluoglu Gokalp, Meliha Demiral, Cigdem Bin |
High frequency of recessive WFS1 mutations among Indian children with islet antibody-negative type 1 diabetes. The Journal of clinical endocrinology and metabolism 2023 11 . Jayakrishnan C Menon, Pratibha Singh, Archana Archana, Preeti Singh, Medha Mittal, Uma Kanga, Kausik Mandal, Anju Seth, Vijayalakshmi Bhatia, Preeti Dabadghao, Siddhnath Sudhanshu, Atul Garg, Ruchira Vishwakarma, Aditya Narayan Sarangi, Shivendra Verma, Surya Kumar Singh, Eesh Bhat |
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes. medRxiv : the preprint server for health sciences 2023 10 . Philip Schroeder, Ravi Mandla, Alicia Huerta-Chagoya, Ahmed Alkanak, Dorka Nagy, Lukasz Szczerbinski, Jesper G S Madsen, Joanne B Cole, Bianca Porneala, Kenneth Westerman, Josephine H Li, Toni I Pollin, Jose C Florez, Anna L Gloyn, Inês Cebola, Alisa Manning, Aaron Leong, Miriam Udler, Josep M Mercad |
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