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Symposium 1: Monogenic diabetes

Revista de la Sociedad Argentina de Diabetes, 2020
Symposium 1: When diabetes is not autoimune Monogenic diabetes A precise diagnosis of a diabetes subtype (DM) is extremely important. This is evident on the case of neonatal DM, a small DM subgroup which is diagnosed before 6 months of age.
Alejandro de Dios
doaj   +1 more source

The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region

JCRPE, 2021
Objective:The aim of this study was to investigate the molecular basis of maturity-onset diabetes of the young (MODY) by targeted-gene sequencing of 20 genes related to monogenic diabetes, estimate the frequency and describe the clinical characteristics ...
Sinem Yalçıntepe, Fatma Özgüç Çömlek, Hakan Gürkan, Selma Demir, Emine İkbal Atlı, Engin Atlı, Damla Eker, Filiz Tütüncüler Kökenli   +7 more
doaj   +1 more source

Model for Integration of Monogenic Diabetes Diagnosis Into Routine Care: The Personalized Diabetes Medicine Program

, 2022
OBJECTIVE: To implement, disseminate, and evaluate a sustainable method for identifying, diagnosing, and promoting individualized therapy for monogenic diabetes. RESEARCH DESIGN AND METHODS: Patients were recruited into the implementation study through a
Bromberger, Lee A, Kimball, Amy, Zhang, Haichen, Streeten, Elizabeth A., Carey, David J., Shuldiner, Alan R., Nwaba, Devon, Guan, Yue, Blessing, Kristina, Mathias, Trevor J, Streeten, Elizabeth A, Maloney, Kristin A., Jeng, Linda J.B., Snyder, Mallory N., Sewell, Danielle, Damcott, Coleen M, Mathias, Trevor J., Levin, Philip A, Taylor, Casey O., Ambulos, Nicholas, Maloney, Kristin A, Bromberger, Lee A., Kleinberger, Jeffrey W, Bisordi, Katharine, Levin, Philip, Goehringer, Jessica, Nicholson, Michaela, Pollin, Toni I., Taylor, Casey O, Jeng, Linda B, Damcott, Coleen M., Palmer, Kathleen, Kleinberger, Jeffrey W.   +32 more
core   +1 more source

Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil

Frontiers in Endocrinology, 2022
Monogenic forms of diabetes mellitus may affect a significant number of patients of this disease, and it is an important molecular cause to be investigated.
Gabriella de Medeiros Abreu, Roberta Magalhães Tarantino, Ana Carolina Proença da Fonseca, Ana Carolina Proença da Fonseca, Juliana Rosa Ferreira de Oliveira Andrade, Juliana Rosa Ferreira de Oliveira Andrade, Ritiele Bastos de Souza, Camila de Almeida Pereira Dias Soares, Amanda Cambraia, Pedro Hernan Cabello, Pedro Hernan Cabello, Melanie Rodacki, Lenita Zajdenverg, Verônica Marques Zembrzuski, Mário Campos Junior   +14 more
doaj   +1 more source

21-Year-Old Pregnant Woman with MODY-5 Diabetes

Case Reports in Obstetrics and Gynecology, 2017
The term “Maturity-Onset Diabetes of the Young” (MODY) was first described in 1976 and is currently referred to as monogenic diabetes. There are 14 known entities accounting for 1-2% of diabetes and they are frequently misdiagnosed as either type 1 or ...
Anastasia Mikuscheva, Elliot McKenzie, Adel Mekhail   +2 more
doaj   +1 more source

Monogenic Diabetes Modeling: In Vitro Pancreatic Differentiation From Human Pluripotent Stem Cells Gains Momentum

Frontiers in Endocrinology, 2021
The occurrence of diabetes mellitus is characterized by pancreatic β cell loss and chronic hyperglycemia. While Type 1 and Type 2 diabetes are the most common types, rarer forms involve mutations affecting a single gene.
Juan Ignacio Burgos, Ludovic Vallier, Santiago A. Rodríguez-Seguí   +2 more
doaj   +1 more source

Advancing Monogenic Diabetes Research and Clinical Care by Creating a Data Commons: The Precision Diabetes Consortium (PREDICT). [PDF]

J Diabetes Sci Technol
Monogenic diabetes mellitus (MDM) is a group of relatively rare disorders caused by pathogenic variants in key genes that result in hyperglycemia. Lack of identified cases, along with absent data standards, and limited collaboration across institutions ...
McCullough ME, Letourneau-Freiberg LR, Naylor RN, Greeley SAW, Broome DT, Tosur M, Kreienkamp RJ, Cobry E, Rasouli N, Pollin TI, Udler MS, Billings LK, Desouza C, Evans-Molina C, Birz S, Furner B, Watkins M, Ott K, Volchenboum SL, Philipson LH.   +19 more
europepmc   +2 more sources

Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals

BMC Medicine, 2017
Background Diagnosis of monogenic as well as atypical forms of diabetes mellitus has important clinical implications for their specific diagnosis, prognosis, and targeted treatment.
Vikas Bansal, Johann Gassenhuber, Tierney Phillips, Glenn Oliveira, Rebecca Harbaugh, Nikki Villarasa, Eric J. Topol, Thomas Seufferlein, Bernhard O. Boehm   +8 more
doaj   +1 more source

Monogenic Diabetes: Implementation of translational genomic research towards precision medicine. [PDF]

, 2016
Various forms of early-onset non-autoimmune diabetes are recognized as monogenic diseases, each subtype being caused by a single highly penetrant gene defect at the individual level.
Vaxillaire, M, Froguel, P
core   +1 more source

Monogenic diabetes mellitus in cystic fibrosis [PDF]

Archives of Disease in Childhood, 2018
We present a non-consanguineous family of three siblings who presented with diabetes mellitus (DM), two of whom had genetically confirmed cystic fibrosis (CF), with one pancreatic-sufficient mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (ΔF508/R117H;IVS8-5T).
Hoong-Wei Gan, Jayesh Mahendra Bhatt, Louise Denvir, Tabitha Randell, Pooja Sachdev   +4 more
openaire   +3 more sources