Approach to the patient with MODY-monogenic diabetes

DT Broome, KM Pantalone, SR Kashyap… - The Journal of …, 2021 - academic.oup.com
Maturity-onset diabetes of the young, or MODY-monogenic diabetes, is a not-so-rare
collection of inherited disorders of non-autoimmune diabetes mellitus that remains …

N-glycans as functional effectors of genetic and epigenetic disease risk

T Štambuk, M Klasić, V Zoldoš, G Lauc - Molecular aspects of medicine, 2021 - Elsevier
N-glycosylation is a frequent modification of proteins, essential for all domains of life. N-
glycan biosynthesis is a dynamic, complex, non-templated process, wherein specific …

[HTML][HTML] Individuals with common diseases but with a low polygenic risk score could be prioritized for rare variant screening

T Lu, S Zhou, H Wu, V Forgetta, CMT Greenwood… - Genetics in …, 2021 - Elsevier
Purpose Identifying rare genetic causes of common diseases can improve diagnostic and
treatment strategies, but incurs high costs. We tested whether individuals with common …

Clinical features, complications and treatment of rarer forms of maturity-onset diabetes of the young (MODY)-A review

R Aarthy, K Aston-Mourney, A Mikocka-Walus… - Journal of Diabetes and …, 2021 - Elsevier
Maturity onset diabetes of the young (MODY) is the most common form of monogenic
diabetes and is currently believed to have 14 subtypes. While much is known about the …

The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion

R Murphy, K Colclough, TI Pollin, JM Ikle… - Communications …, 2023 - nature.com
Background Monogenic diabetes presents opportunities for precision medicine but is
underdiagnosed. This review systematically assessed the evidence for (1) clinical criteria …

The role of sulfonylureas in the treatment of type 2 diabetes

B Tomlinson, NG Patil, M Fok, P Chan… - Expert Opinion on …, 2022 - Taylor & Francis
ABSTRACT Introduction Type 2 diabetes (T2D) is increasingly prevalent and associated
with increased risk for cardiovascular and renal disease. After lifestyle modification …

Beta-cell dedifferentiation in type 2 diabetes: concise review

S Efrat - Stem Cells, 2019 - academic.oup.com
Abstract Type 2 diabetes (T2D) is caused by an inherited predisposition to pancreatic islet β-
cell failure, which is manifested under cellular stress induced by metabolic overload. The …

A review of the biosynthesis and structural implications of insulin gene mutations linked to human disease

S Ataie-Ashtiani, B Forbes - Cells, 2023 - mdpi.com
The discovery of the insulin hormone over 100 years ago, and its subsequent therapeutic
application, marked a key landmark in the history of medicine and medical research. The …

Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?

IA Khan - Heliyon, 2021 - cell.com
Neonatal diabetes mellitus (NDM) is noted as a genetic, heterogeneous, and rare disease in
infants. NDM occurs due to a single-gene mutation in neonates. A common source for …

Maturity-onset diabetes of the young: from a molecular basis perspective toward the clinical phenotype and proper management

SC Oliveira, JS Neves, A Pérez, D Carvalho - Endocrinologia, diabetes y …, 2020 - Elsevier
Maturity-onset diabetes of the young (MODY) comprises a heterogeneous group of
monogenic disorders characterized by primary defect in pancreatic β-cell function, early …