Monogenic diabetes

A Bonnefond, R Unnikrishnan, A Doria… - Nature Reviews …, 2023 - nature.com
Monogenic diabetes includes several clinical conditions generally characterized by early-
onset diabetes, such as neonatal diabetes, maturity-onset diabetes of the young (MODY) …

Advances in the diagnosis and management of well-differentiated neuroendocrine neoplasms

J Hofland, G Kaltsas, WW de Herder - Endocrine Reviews, 2020 - academic.oup.com
Neuroendocrine neoplasms constitute a diverse group of tumors that derive from the
sensory and secretory neuroendocrine cells and predominantly arise within the pulmonary …

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals

Y Cao, L Li, M Xu, Z Feng, X Sun, J Lu, Y Xu, P Du… - Cell research, 2020 - nature.com
Metabolic diseases are the most common and rapidly growing health issues worldwide. The
massive population-based human genetics is crucial for the precise prevention and …

Genetics and epigenetics of gastroenteropancreatic neuroendocrine neoplasms

A Mafficini, A Scarpa - Endocrine reviews, 2019 - academic.oup.com
Gastroenteropancreatic (GEP) neuroendocrine neoplasms (NENs) are heterogeneous
regarding site of origin, biological behavior, and malignant potential. There has been a rapid …

Cellular senescence in diabetes mellitus: distinct senotherapeutic strategies for adipose tissue and pancreatic β cells

T Murakami, N Inagaki, H Kondoh - Frontiers in Endocrinology, 2022 - frontiersin.org
Increased insulin resistance and impaired insulin secretion are significant characteristics
manifested by patients with type 2 diabetes mellitus (T2DM). The degree and extent of these …

PDX1LOW MAFALOW β-cells contribute to islet function and insulin release

D Nasteska, NHF Fine, FB Ashford, F Cuozzo… - Nature …, 2021 - nature.com
Transcriptionally mature and immature β-cells co-exist within the adult islet. How such
diversity contributes to insulin release remains poorly understood. Here we show that subtle …

Overview of the 2022 WHO classification of familial endocrine tumor syndromes

V Nosé, A Gill, JMC Teijeiro, A Perren, L Erickson - Endocrine pathology, 2022 - Springer
This review of the familial tumor syndromes involving the endocrine organs is focused on
discussing the main updates on the upcoming fifth edition of the WHO Classification of …

[HTML][HTML] Sex differences underlying pancreatic islet biology and its dysfunction

M Gannon, RN Kulkarni, MT Hubert… - Molecular metabolism, 2018 - Elsevier
Background The sex of an individual affects glucose homeostasis and the pathophysiology,
incidence, and prevalence of diabetes as well as the response to therapy. Scope of the …

Normal and defective pathways in biogenesis and maintenance of the insulin storage pool

M Liu, Y Huang, X Xu, X Li, M Alam… - The Journal of …, 2021 - Am Soc Clin Investig
Both basal and glucose-stimulated insulin release occur primarily by insulin secretory
granule exocytosis from pancreatic β cells, and both are needed to maintain normoglycemia …

Neuroendocrine neoplasms in the context of inherited tumor syndromes: a reappraisal focused on targeted therapies

RM Ruggeri, E Benevento, F De Cicco… - Journal of …, 2023 - Springer
Purpose Neuroendocrine neoplasms can occur as part of inherited disorders, usually in the
form of well-differentiated, slow-growing tumors (NET). The main predisposing syndromes …