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Nature Reviews Disease Primers, 2023 Monogenic diabetes includes several clinical conditions generally characterized by early-onset diabetes, such as neonatal diabetes, maturity-onset diabetes of the young (MODY) and various diabetes-associated syndromes. However, patients with apparent type 2 diabetes mellitus may actually have monogenic diabetes. Indeed, the same monogenic diabetes gene
Bonnefond, Amélie +7 more
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Medicine, 2014 Whereas most people with diabetes mellitus have type 1 (T1DM) or type 2 (T2DM) diabetes, there are a number of other inherited forms of diabetes and insulin resistance syndromes, which represent up to about 5% of all cases of diabetes. Monogenic forms of pancreatic β-cell dysfunction include maturity-onset diabetes of the young (MODY) and neonatal ...
Kavvoura, FK, Owen, KR
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Monogenic diabetes: a gateway to precision medicine in diabetes [PDF]
Journal of Clinical Investigation, 2021 Monogenic diabetes refers to diabetes mellitus (DM) caused by a mutation in a single gene and accounts for approximately 1%-5% of diabetes. Correct diagnosis is clinically critical for certain types of monogenic diabetes, since the appropriate treatment is determined by the etiology of the disease (e.g., oral sulfonylurea treatment of HNF1A/HNF4A ...
Haichen Zhang +3 more
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Many faces of monogenic diabetes [PDF]
Journal of Diabetes Investigation, 2014 AbstractMonogenic diabetes represents a heterogeneous group of disorders resulting from defects in single genes. Defects are categorized primarily into two groups: disruption of β‐cell function or a reduction in the number of β‐cells. A complex network of transcription factors control pancreas formation, and a dysfunction of regulators high in the ...
Schwitzgebel Luscher, Valérie
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Topic: Monogenic Diabetes Mellitus
, 2017 Aim: The main aim of the review is to describe about monogenic diabetes mellitus Objective: Monogenic diabetes mellitus is more common in young people developing diabetes, it is important to be alert to the possibility of monogenic diabetes; hence we review about clinical features, genetics, prevalence, pathophysiology and treatment of monogenic ...
Preethi Krishnan, Kannan
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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 +4 more
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Diabetol IntDiseases in which genetic factors contribute to nearly 100% of the causation by single-gene mutations are referred to as monogenic disorders or Mendelian genetic diseases. These include neonatal diabetes mellitus (NDM), presenting within the first six months of life, maturity-onset diabetes of the young (MODY), developing later in childhood or ...
Horikawa Y, Hosomichi K, Yabe D.
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Monogenic Diabetes due to ABCC8/KCNJ11 Mutation: Case Study and Review of Literature [PDF]
, 2020 Monogenic diabetes arises due to mutation in a single-gene and is recognized by their striking familial inheritance pattern. This form of diabetes is inherited in an autosomal dominant or recessive fashion, unlike polygenic Type 1 (autoimmune) or type 2 ...
Wei, C, Bano, G, Karunakaran, V
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Syndromic Monogenic Diabetes Genes Should be Tested in Patients With a Clinical Suspicion of MODY [PDF]
, 2021 This is the author accepted manuscript. The final version is available from the American Diabetes Association via the DOI in this recordThis article contains supplementary material online at https://doi.org/10.2337/figshare.17000605At present, outside of
Patel, K +7 more
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Frontiers in Endocrinology, 2023 AimsMonogenic diabetes accounts for 1-2% of diabetes cases yet is often misdiagnosed as type 2 diabetes. The aim of this study was to examine in Māori and Pacific adults clinically diagnosed with type 2 diabetes within 40 years of age, (a) the prevalence
Zanetta Toomata +17 more
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