المؤلفون: ZHANG Juan, GE Xiaoxu, ZHANG Rong, JIANG Fusong, JIANG Yanyan, LI Ming, LI Tiantian, LIU Chanwei, CHEN Yating, LIU Limei

المصدر: Shanghai Jiaotong Daxue xuebao. Yixue ban, Vol 43, Iss 10, Pp 1255-1261 (2023)

مصطلحات موضوعية: maturity-onset diabetes of the young (mody), neurod1 gene, mody6, glu59gln mutation, functional analysis, Medicine

وصف الملف: electronic resource

العلاقة: https://xuebao.shsmu.edu.cn/article/2023/1674-8115/1674-8115-2023-43-10-1255.shtmlTest; https://doaj.org/toc/1674-8115Test

الوصول الحر: https://doaj.org/article/69fed63d72b341369b4793afd8af0804Test

المؤلفون: Rossana Ruiz-Urbaez, Mariela Viviana Villagómez-Estrada, Carlos Reyes-Silva, Darlyng Quishpe-López, David Males-Maldonado, Jorge Salazar-Vega, Enrique Gea-Izquierdo

المصدر: Medicina, Vol 60, Iss 5, p 830 (2024)

مصطلحات موضوعية: maturity-onset diabetes of the young (MODY), INS gene, nephropathy, retinopathy, hypogonadism, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1648-9144/60/5/830Test; https://doaj.org/toc/1010-660XTest; https://doaj.org/toc/1648-9144Test

الوصول الحر: https://doaj.org/article/123e6da348c043b6ab6a889210b3cf23Test

المؤلفون: Kettunen, Jarno L.T., Rantala, Elina, Dwivedi, Om P., Isomaa, Bo, Sarelin, Leena, Kokko, Paula, Hakaste, Liisa, Miettinen, Päivi J., Groop, Leif C., Tuomi, Tiinamaija

المصدر: Diabetologia EXODIAB: Excellence of Diabetes Research in Sweden. 65(4):632-643

مصطلحات موضوعية: Age at onset, Glucagon, HNF1A-MODY, Insulin deficiency, Lipolysis, Maturity-onset diabetes of the young (MODY), MODY3, Monogenic diabetes, NEFA, Polygenic risk score for type 2 diabetes, Medicin och hälsovetenskap, Klinisk medicin, Endokrinologi och diabetes, Medical and Health Sciences, Clinical Medicine, Endocrinology and Diabetes

الوصول الحر: https://lup.lub.lu.se/record/90d7e8d1-66fa-4bd6-80ec-08f40a56d076Test
http://dx.doi.org/10.1007/s00125-021-05631-zTest

المؤلفون: Akito Hattori, Koji Okuhara, Shigeru Suzuki, Tohru Ohta, Yasuhiro Shimizu

المصدر: Clinical Pediatric Endocrinology. 2024, 33(1):12

المؤلفون: Quilichini, Evans, Fabre, Mélanie, Nord, Christoffer, Dirami, Thassadite, Le Marec, Axelle, Cereghini, Silvia, Pasek, Raymond C, Gannon, Maureen, Ahlgren, Ulf, Haumaitre, Cécile

المصدر: Journal of Pathology. 254(1):31-45

مصطلحات موضوعية: exocrine dysfunction, glucose intolerance, haploinsufficiency, HNF1B, maturity-onset diabetes of the young (MODY), optical projection tomography (OPT), pancreatic hypoplasia, pancreatitis, primary cilia, β-cells

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-181833Test
https://doi.org/10.1002/path.5629Test
https://umu.diva-portal.org/smash/get/diva2:1542060/FULLTEXT02.pdfTest

المؤلفون: Babu Kavitha, Sampathkumar Ranganathan, Sundaramoorthy Gopi, Umashankar Vetrivel, Nagarajan Hemavathy, Viswanathan Mohan, Venkatesan Radha

المصدر: Frontiers in Endocrinology, Vol 14 (2023)

مصطلحات موضوعية: Maturity Onset Diabetes of Young (MODY) subtype-3, acmg-amp guidelines, re-interpretation, pathogenic variants, functional characterization, structural analysis, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2023.1177268/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/14d3494cf9024ecf8ef34b3e32eeb811Test

المؤلفون: Zanetta Toomata, Megan Leask, Mohanraj Krishnan, Murray Cadzow, Nicola Dalbeth, Lisa K. Stamp, Janak de Zoysa, Tony Merriman, Phillip Wilcox, Ofa Dewes, Rinki Murphy

المصدر: Frontiers in Endocrinology, Vol 14 (2023)

مصطلحات موضوعية: precision medicine, monogenic diabetes, type 2 diabetes, molecular diagnosis, maturity-onset diabetes of the young (MODY), maternally inherited diabetes and deafness (MIDD), Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2023.1174699/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/1976fa2455f24ce3a4d3e3c2d39adc29Test

المؤلفون: María E. Vázquez-Mosquera, Emiliano González-Vioque, Sofía Barbosa-Gouveia, Diego Bellido-Guerrero, Cristina Tejera-Pérez, Miguel A. Martinez-Olmos, Antía Fernández-Pombo, Luis A. Castaño-González, Roi Chans-Gerpe, María L. Couce

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Gene expression, Maturity-onset diabetes of the young (MODY), Nanostring nCounter techonology, Transcriptomic diagnosis, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/799d5da6e7f44dd38a38cce541be7f1fTest

المؤلفون: Russ-Silsby, J, Patel, KA, Laver, TW, Hawkes, G, Johnson, MB, Wakeling, MN, Patil, PP, Hattersley, AT, Flanagan, SE, Weedon, MN, De Franco, E

مصطلحات موضوعية: Neonatal Diabetes, Type 2 Diabetes, Maturity-Onset Diabetes of the Young (MODY), Genetic Research, Monogenic Diabetes, Clinical Genetics, Pancreatic Development

وصف الملف: db230498-; Print-Electronic

العلاقة: https://www.ncbi.nlm.nih.gov/pubmed/37639628Test; https://www.ukbiobank.ac.ukTest/; Diabetes; Published online 28 August 2023; https://doi.org/10.2337/db23-0498Test; 19/0005994; 21/0006335; MR/T00200X/1; 224600/Z/21/Z; http://hdl.handle.net/10871/133885Test

الإتاحة: https://doi.org/10.2337/db23-0498Test
http://hdl.handle.net/10871/133885Test

المؤلفون: Kettunen, Jarno L. T., Rantala, Elina, Dwivedi, Om P., Isomaa, Bo, Sarelin, Leena, Kokko, Paula, Hakaste, Liisa, Miettinen, Päivi J., Groop, Leif C., Tuomi, Tiinamaija

المساهمون: Institute for Molecular Medicine Finland, HUS Abdominal Center, Endokrinologian yksikkö, CAMM - Research Program for Clinical and Molecular Metabolism, HUS Children and Adolescents, Clinicum, Research Programs Unit, Children's Hospital, STEMM - Stem Cells and Metabolism Research Program, Department of Medicine

مصطلحات موضوعية: Age at onset, Glucagon, HNF1A-MODY, Insulin deficiency, Lipolysis, Maturity-onset diabetes of the young (MODY), MODY3, Monogenic diabetes, NEFA, Polygenic risk score for type 2 diabetes, HEPATIC NUCLEAR FACTOR-1-ALPHA, HOMEOSTASIS MODEL ASSESSMENT, INSULIN SENSITIVITY, CELL DYSFUNCTION, ALPHA-GENE, YOUNG MODY, C-PEPTIDE, ONSET, GLUCOSE, MUTATION, Biomedicine

وصف الملف: application/pdf

العلاقة: Open Access funding provided by University of Helsinki including Helsinki University Central Hospital. The Botnia, FINNMODY and PPP-Botnia studies have been financially supported by grants from Folkhalsan Research Foundation, the Sigrid Juselius Foundation, the Academy of Finland (grants no. 263401, 267882, 312063, 336822 to LCG; 312072 and 336826 to TT), the University of Helsinki, the Nordic Center of Excellence in Disease Genetics, the EU (EXGENESIS, MOSAIC FP7-600914), the Ollqvist Foundation, the Swedish Cultural Foundation in Finland, the Finnish Diabetes Research Foundation, the Foundation for Life and Health in Finland, the Signe and Ane Gyllenberg Foundation, the Finnish Medical Society, the Paavo Nurmi Foundation, State Research Funding via the Helsinki University Hospital, the Perklen Foundation, Narpes Health Care Foundation and the Ahokas Foundation. These studies have also been supported by the Ministry of Education in Finland, the Municipal Health Care Center and Hospital in Jakobstad, and Health Care Centers in Vasa, Narpes and Korsholm.; Kettunen , J L T , Rantala , E , Dwivedi , O P , Isomaa , B , Sarelin , L , Kokko , P , Hakaste , L , Miettinen , P J , Groop , L C & Tuomi , T 2022 , ' A multigenerational study on phenotypic consequences of the most common causal variant of HNF1A-MODY ' , Diabetologia , vol. 65 , no. 4 , pp. 632–643 . https://doi.org/10.1007/s00125-021-05631-zTest; ORCID: /0000-0002-8306-6202/work/111173625; ORCID: /0000-0002-5184-9616/work/111175276; ORCID: /0000-0002-9995-698X/work/111175325; http://hdl.handle.net/10138/342495Test; 8c98c354-c157-42e1-b5a3-4d2086a40533; 000734005000001

الإتاحة: http://hdl.handle.net/10138/342495Test