Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 259 Records) |
Query Trace: HNF1A[original query] |
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Variants influencing age at diagnosis of HNF1A-MODY. Molecular medicine (Cambridge, Mass.) 2022 9 28 (1): 113. Ludwig-S?omczy?ska Agnieszka H, Seweryn Micha? T, Radkowski Piotr, Kapusta Przemys?aw, Machlowska Julita, Pruhova Stepanka, Gasperikova Daniela, Bellanne-Chantelot Christine, Hattersley Andrew, Kandasamy Balamurugan, Letourneau-Freiberg Lisa, Philipson Louis, Doria Alessandro, Wo?kow Pawe? P, Ma?ecki Maciej T, Klupa Toma |
Early-onset diabetes involving three consecutive generations had different clinical features from age-matched type 2 diabetes without a family history in China. Endocrine 2022 Oct 78 (1): 47-56. Wang Da-Wei, Yuan Jing, Yang Fang-Yuan, Qiu Hai-Yan, Lu Jing, Yang Jin-K |
Fruit and Vegetable Consumption Interacts With HNF1A Variants on the C-Reactive Protein. Frontiers in nutrition 2022 7 9 900867. Shin Dayeon, Lee Kyung W |
Meta-analysis of HNF1A-MODY3 variants among human population. Journal of diabetes and metabolic disorders 2022 Jun 21 (1): 1037-1046. Behl Rachna, Malhotra Nishtha, Joshi Vinay, Poojary Shruti, Middha Sanniya, Gupta Shalini, Olaonipekun Arinola B, Okoye Ikechukwu, Wagh Bhushan, Biswas Dibyendu, Aginah Chukwuemelie, Saini Bhavya, Nwanya Chinaza, Ugwu Sopuluchukwu, Anthony Modupe M, Fang Xuanyu S, Foluso Ogunfile, Ibrahim Abdulrahman Tu |
Genetic and Epigenetic Association of Hepatocyte Nuclear Factor-1? with Glycosylation in Post-Traumatic Stress Disorder. Genes 2022 6 13 (6): . Tudor Lucija, Konjevod Marcela, Nedic Erjavec Gordana, Nikolac Perkovic Matea, Uzun Suzana, Kozumplik Oliver, Zoldos Vlatka, Lauc Gordan, Svob Strac Dubravka, Pivac Ne |
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 |
Identification of a novel hepatocyte nuclear factor-1 alpha (HNF1A) variant in maturity onset diabetes of the young type 3 (HNF1A-MODY). Endocrinology, diabetes & metabolism case reports 2022 4 2022 . Verma Megha, Stone Stephen |
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 |
Hemoglobin A can differentiate subjects with GCK mutations among patients suspected to have MODY. Journal of pediatric endocrinology & metabolism : JPEM 2022 10 35 (12): 1528-1536. Y?lmaz Uzman Ceren, Erba? ?brahim Mert, Giray Bozkaya Özlem, Paketçi Ahu, Ça?layan Ahmet Okay, Abac? Ayhan, Kulal? Melike Ataseven, Böber Ece, Kekilli Arda, Çinleti Tayfun, Erçal Murat Derya, Demir Korc |
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 |
The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations. Diabetologia 2022 Oct . Stalbow Lauren A, Preuss Michael H, Smit Roelof A J, Chami Nathalie, Bjørkhaug Lise, Aukrust Ingvild, Gloyn Anna L, Loos Ruth J |
Association of lncRNA and transcriptome intersections with response to targeted therapy in metastatic renal cell carcinoma. Oncology letters 2023 8 26 (3): 365. Tereza Tesarova, Kamila Koucka, Radka Vaclavikova, Karolina Seborova, Milan Hora, Ondrej Hes, Kristyna Pivovarcikova, Pavel Soucek, Ondrej Fia |
Cerebrospinal fluid as a liquid biopsy for molecular characterization of brain metastasis in patients with non-small cell lung cancer. Lung cancer (Amsterdam, Netherlands) 2023 7 182 107292. Georgios Tsakonas, Vasisht Tadigotla, Sudipto K Chakrabortty, Giuseppe Stragliotto, Dalin Chan, Rolf Lewensohn, Wei Yu, Johan K Skog, Per Hydbring, Simon Ekm |
Role of HNFA1 Gene Variants in Pancreatic Beta Cells Function and Glycaemic Control in Young Individuals with Type 1 Diabetes. Biomedicines 2023 7 11 (7): . Antonietta Robino, Gianluca Tornese, Davide Tinti, Klemen Dovc, Valeria Castorani, Andrea Conti, Roberto Franceschi, Ivana Rabbone, Riccardo Bonfanti, Tadej Battelino, Eulalia Cata |
Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins. Cell genomics 2023 7 3 (7): 100339. Natalie DeForest, Babu Kavitha, Siqi Hu, Roi Isaac, Lynne Krohn, Minxian Wang, Xiaomi Du, Camila De Arruda Saldanha, Jenny Gylys, Edoardo Merli, Ruben Abagyan, Laeya Najmi, Viswanathan Mohan, , , Jason Flannick, Gina M Peloso, Philip L S M Gordts, Sven Heinz, Aimee M Deaton, Amit V Khera, Jerrold Olefsky, Venkatesan Radha, Amit R Majith |
Supratentorial Sporadic Hemangioblastoma: A Case Report With Mutation Profiling Using Next-Generation DNA Sequencing. Cureus 2023 6 15 (6): e39818. Mohiuddin M Taher, Najwa A Bantan, Mustafa H Alwalily, Muhammad Saeed, Nuha M Taher, Meriem Bouzidi, Raid A Jastania, Kamal B Balkhoyo |
High-fat diet plus HNF1A variant promotes polyps by activating ?-catenin in early onset colorectal cancer. JCI insight 2023 5 . Heyu Song, Ricky A Sontz, Matthew J Vance, Julia M Morris, Sulaiman Sheriff, Songli Zhu, Suzann Duan, Jiping Zeng, Erika Koeppe, Ritu Pandey, Curtis A Thorne, Elena M Stoffel, Juanita L Mercha |
Comprehensive profiling of pathogenic germline large genomic rearrangements in a pan-cancer analysis. Molecular oncology 2023 4 . Sun Zhe, Bai Chujie, Su Miaoyi, Tang Haimeng, Wu Xiaoying, Wang Yue, Bao Hua, Liu Xunbiao, Wu Xue, Shao Yang, Xu B |
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 |
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 |
Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes. Diabetologia 2023 10 . Pernille Svalastoga, Alba Kaci, Janne Molnes, Marie H Solheim, Bente B Johansson, Lars Krogvold, Torild Skrivarhaug, Eivind Valen, Stefan Johansson, Anders Molven, Jørn V Sagen, Eirik Søfteland, Lise Bjørkhaug, Erling Tjora, Ingvild Aukrust, Pål R Njølst |
A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland. The Lancet regional health. Europe 2023 1 24 100529. Thuesen Anne Cathrine Baun, Stæger Frederik Filip, Kaci Alba, Solheim Marie Holm, Aukrust Ingvild, Jørsboe Emil, Santander Cindy G, Andersen Mette K, Li Zilong, Gilly Arthur, Stinson Sara Elizabeth, Gjesing Anette Prior, Bjerregaard Peter, Pedersen Michael Lynge, Larsen Christina Viskum Lytken, Grarup Niels, Jørgensen Marit E, Zeggini Eleftheria, Bjørkhaug Lise, Njølstad Pål Rasmus, Albrechtsen Anders, Moltke Ida, Hansen Torb |
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