Skip Navigation
Skip to contents

JYMS : Journal of Yeungnam Medical Science

Indexed in: ESCI, Scopus, PubMed,
PubMed Central, CAS, DOAJ, KCI
FREE article processing charge
OPEN ACCESS
SEARCH
Search

Search

Page Path
HOME > Search
2 "Genetic testing"
Filter
Filter
Article category
Keywords
Publication year
Authors
Review article
Maturity-onset diabetes of the young: update and perspectives on diagnosis and treatment
Kyung Mi Jang
Yeungnam Univ J Med. 2020;37(1):13-21.   Published online January 9, 2020
DOI: https://doi.org/10.12701/yujm.2019.00409
  • 14,353 View
  • 384 Download
  • 27 Crossref
AbstractAbstract PDF
Maturity-onset diabetes of the young (MODY) is a clinically heterogeneous group of monogenic disorders characterized by ß-cell dysfunction. MODY accounts for between 2% and 5% of all diabetes cases, and distinguishing it from type 1 or type 2 diabetes is a diagnostic challenge. Recently, MODY-causing mutations have been identified in 14 different genes. Sanger DNA sequencing is the gold standard for identifying the mutations in MODY-related genes, and may facilitate the diagnosis. Despite the lower frequency among diabetes mellitus cases, a correct genetic diagnosis of MODY is important for optimizing treatment strategies. There is a discrepancy in the disease-causing locus between the Asian and Caucasian patients with MODY. Furthermore, the prevalence of the disease in Asian populations remains to be studied. In this review, the current understanding of MODY is summarized and the Asian studies of MODY are discussed in detail.

Citations

Citations to this article as recorded by  
  • Maturity-onset diabetes of the young type 7 (MODY7) and mutation in the Krüppel-like transcription factor 11 (KLF11) gene
    Y Wang, X Ye, X Chen, H Zang, Q Shen, L Chen
    QJM: An International Journal of Medicine.2024; 117(3): 219.     CrossRef
  • Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential Association with Diabetes Mellitus
    Mohamed E. Elangeeb, Imadeldin Elfaki, Ali M. S. Eleragi, Elsadig Mohamed Ahmed, Rashid Mir, Salem M. Alzahrani, Ruqaiah I. Bedaiwi, Zeyad M. Alharbi, Mohammad Muzaffar Mir, Mohammad Rehan Ajmal, Faris Jamal Tayeb, Jameel Barnawi
    Molecules.2024; 29(8): 1904.     CrossRef
  • Glucose Disorders
    Juan A. Perez
    Primary Care: Clinics in Office Practice.2024; 51(3): 375.     CrossRef
  • The Importance of Molecular Genetic Testing for Precision Diagnostics, Management, and Genetic Counseling in MODY Patients
    Lăcrămioara Ionela Butnariu, Delia Andreia Bizim, Carmen Oltean, Cristina Rusu, Monica Cristina Pânzaru, Gabriela Păduraru, Nicoleta Gimiga, Gabriela Ghiga, Ștefana Maria Moisă, Elena Țarcă, Iuliana Magdalena Starcea, Setalia Popa, Laura Mihaela Trandafir
    International Journal of Molecular Sciences.2024; 25(12): 6318.     CrossRef
  • MODY diabetes as an orphan disease: literature review
    A.V. Garnytska, O.S. Orlyk, L.M. Zenkina, S.O. Osadcha
    Infusion & Chemotherapy.2024; (2): 32.     CrossRef
  • The Elusive Nature of ABCC8-related Maturity-Onset Diabetes of the Young (ABCC8-MODY). A Review of the Literature and Case Discussion
    Marella Marassi, Mario Luca Morieri, Viola Sanga, Giulio Ceolotto, Angelo Avogaro, Gian Paolo Fadini
    Current Diabetes Reports.2024; 24(9): 197.     CrossRef
  • MODY calculator applied in patients with clinical diagnosis of type 1 diabetes mellitus: Is a higher cutoff needed?
    Vinícius Vigliazzi Peghinelli, Maria Teresa De Sibio, Igor de Carvalho Depra, Milena Gurgel Teles Bezerra, Marna Eliana Sakalem, Adriano Francisco De Marchi Júnior, Paula Barreto da Rocha, Helena Paim Tilli, Bianca Mariani Gonçalves, Ester Mariane Vieira,
    Heliyon.2024; 10(16): e36006.     CrossRef
  • Generational Diet-Induced Obesity Remodels the Omental Adipose Proteome in Female Mice
    Naviya Schuster-Little, Morgan McCabe, Kayla Nenninger, Reihaneh Safavi-Sohi, Rebecca J. Whelan, Tyvette S. Hilliard
    Nutrients.2024; 16(18): 3086.     CrossRef
  • Novel gene mutation in maturity-onset diabetes of the young: A case report
    Na Zhang, Hui Zhao, Cui Li, Feng-Zhi Zhang
    World Journal of Clinical Cases.2023; 11(5): 1099.     CrossRef
  • Cardio-cerebrovascular Outcomes in MODY, Type 1 Diabetes, and Type 2 Diabetes: A Prospective Cohort Study
    Hui-Xuan Wu, Tian-Yao Chu, Junaid Iqbal, Hong-Li Jiang, Long Li, Yan-Xuan Wu, Hou-De Zhou
    The Journal of Clinical Endocrinology & Metabolism.2023; 108(11): 2970.     CrossRef
  • Genetic and Clinical Characterization of Patients with HNF1B-Related MODY in Croatia
    Maja Baretić, Domagoj Caban, Jadranka Sertić
    Journal of Personalized Medicine.2023; 13(7): 1063.     CrossRef
  • Quantitative profiling and diagnostic potential of one-carbon and central metabolism pools in MODY2 and T1DM
    Jieying Liu, Ziyan Xie, Junling Fu, Miao Yu, Tong Wang, Cuijuan Qi, Peng Liu, Xiangyi Hui, Dongmei Wang, Lu Ding, Qian Zhang, Ting Xie, Xinhua Xiao
    Diabetology & Metabolic Syndrome.2023;[Epub]     CrossRef
  • When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?
    Özlem Üstay, Tugçe Apaydın, Onur Elbasan, Hamza Polat, Gizem Günhan, Ceyda Dinçer, Lamia Şeker, Esra Arslan Ateş, Ayşegül Yabacı, Ahmet lter Güney, Dilek Gogas Yavuz
    Archives of Endocrinology and Metabolism.2022;[Epub]     CrossRef
  • Meta-analysis of HNF1A-MODY3 variants among human population
    Rachna Behl, Nishtha Malhotra, Vinay Joshi, Shruti Poojary, Sanniya Middha, Shalini Gupta, Arinola B. Olaonipekun, Ikechukwu Okoye, Bhushan Wagh, Dibyendu Biswas, Chukwuemelie Aginah, Bhavya Saini, Chinaza Nwanya, Sopuluchukwu Ugwu, Modupe M. Anthony, Xua
    Journal of Diabetes & Metabolic Disorders.2022; 21(1): 1037.     CrossRef
  • Unusual manifestations of young woman with MODY5 based on 17q12 recurrent deletion syndrome
    Ying Cheng, Da-Peng Zhong, Li Ren, Hang Yang, Chen-Fu Tian
    BMC Endocrine Disorders.2022;[Epub]     CrossRef
  • Diagnosis and Treatment of Monogenic Forms of Diabetes Mellitus: Focus on Mody-Diabetes
    K. A. Aitbaev, I. T. Murkamilov, Zh. A. Murkamilova, V. V. Fomin, I. O Kudaibergenova, F. A. Yusupov
    The Russian Archives of Internal Medicine.2022; 12(6): 430.     CrossRef
  • Monogenic diabetes: recent updates on diagnosis and precision treatment: A narrative review
    Kyung Mi Jang
    Precision and Future Medicine.2022; 6(4): 209.     CrossRef
  • Modeling Maturity Onset Diabetes of the Young in Pluripotent Stem Cells: Challenges and Achievements
    Carmel Braverman-Gross, Nissim Benvenisty
    Frontiers in Endocrinology.2021;[Epub]     CrossRef
  • Gençlerin Erişkin Başlangıçlı Diyabeti (MODY) Sorumlu HNF4A, GCK ve HNF1 Gen Varyasyonlarının Dünya Genelinde Coğrafik Dağılımı
    Deniz KANCA DEMİRCİ, Nurdan GÜL, İlhan SATMAN, Oguz OZTURK, Hülya YILMAZ AYDOĞAN
    Haliç Üniversitesi Fen Bilimleri Dergisi.2021; 4(1): 41.     CrossRef
  • ABCC8 variants in MODY12: Review of the literature and report of a case with severe complications
    Marijke Timmers, Eveline Dirinck, Patrick Lauwers, Wim Wuyts, Christophe De Block
    Diabetes/Metabolism Research and Reviews.2021;[Epub]     CrossRef
  • Monogenic Childhood Diabetes: Dissecting Clinical Heterogeneity by Next-Generation Sequencing in Maturity-Onset Diabetes of the Young
    Deniz Kanca Demirci, Feyza Darendeliler, Sukran Poyrazoglu, Asli Derya Kardelen Al, Nurdan Gul, Yildiz Tutuncu, Gizem Gulfidan, Kazim Yalcin Arga, Canan Cacina, Oguz Ozturk, Hulya Yilmaz Aydogan, Ilhan Satman
    OMICS: A Journal of Integrative Biology.2021; 25(7): 431.     CrossRef
  • A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases
    Zsolt Gaál, Zsuzsanna Szűcs, Irén Kántor, Andrea Luczay, Péter Tóth-Heyn, Orsolya Benn, Enikő Felszeghy, Zsuzsanna Karádi, László Madar, István Balogh
    Life.2021; 11(8): 771.     CrossRef
  • A Comprehensive Analysis of Hungarian MODY Patients—Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes
    Zsolt Gaál, Zsuzsanna Szűcs, Irén Kántor, Andrea Luczay, Péter Tóth-Heyn, Orsolya Benn, Enikő Felszeghy, Zsuzsanna Karádi, László Madar, István Balogh
    Life.2021; 11(8): 755.     CrossRef
  • Diagnosis and Treatment of MODY: An Updated Mini Review
    Abegail Tshivhase, Tandi Matsha, Shanel Raghubeer
    Applied Sciences.2021; 11(20): 9436.     CrossRef
  • Functional Genomics in Pancreatic β Cells: Recent Advances in Gene Deletion and Genome Editing Technologies for Diabetes Research
    Ming Hu, Ines Cherkaoui, Shivani Misra, Guy A. Rutter
    Frontiers in Endocrinology.2020;[Epub]     CrossRef
  • Update on Monogenic Diabetes in Korea
    Ye Seul Yang, Soo Heon Kwak, Kyong Soo Park
    Diabetes & Metabolism Journal.2020; 44(5): 627.     CrossRef
  • The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY)
    Ken Munene Nkonge, Dennis Karani Nkonge, Teresa Njeri Nkonge
    Clinical Diabetes and Endocrinology.2020;[Epub]     CrossRef
Case Report
Rheumatoid arthritis accompanied by Gitelman syndrome
Min Gi Park, Ji Hyun Lee, Sung Jun Kim, Su Ho Park, Suk Ki Park, Joon Sul Choi, Ji Yeon Hwang
Yeungnam Univ J Med. 2017;34(1):101-105.   Published online June 30, 2017
DOI: https://doi.org/10.12701/yujm.2017.34.1.101
  • 2,301 View
  • 20 Download
AbstractAbstract PDF
Gitelman syndrome is a condition caused by a mutation of the thiazide sensitive Na-Cl cotransporter gene on the distal convoluted tubule. It results in a variety of clinical features, including hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. It is often diagnosed in asymptomatic adults presented with unexplained hypokalemia; however, it is sometimes associated with muscular cramps, numbness, fatigue, weakness, or paralysis. We experienced a case of rheumatoid arthritis accompanied by Gitelman syndrome, presented with hand tremor. We diagnosed her using renal clearance study and genetic analysis. Here, we report our experiences regarding this case along with a literature review.

JYMS : Journal of Yeungnam Medical Science
TOP