Monogenic diabetes: a gateway to precision medicine in diabetes

H Zhang, K Colclough, AL Gloyn… - The Journal of clinical …, 2021 - Am Soc Clin Investig
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 …

The diagnosis and management of lipodystrophy syndromes: a multi-society practice guideline

RJ Brown, D Araujo-Vilar, PT Cheung… - The Journal of …, 2016 - academic.oup.com
Objective: Lipodystrophy syndromes are extremely rare disorders of deficient body fat
associated with potentially serious metabolic complications, including diabetes …

[PDF][PDF] ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

AT Hattersley, SAW Greeley, M Polak… - 2018 - ore.exeter.ac.uk
Monogenic diabetes results from one or more defects in a single gene. The disease may be
inherited within families as a dominant, recessive or non-Mendelian trait or may present as a …

Seipin is required for converting nascent to mature lipid droplets

H Wang, M Becuwe, BE Housden, C Chitraju… - elife, 2016 - elifesciences.org
How proteins control the biogenesis of cellular lipid droplets (LDs) is poorly understood.
Using Drosophila and human cells, we show here that seipin, an ER protein implicated in …

[HTML][HTML] ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents

SAW Greeley, M Polak, PR Njølstad, F Barbetti… - Pediatric …, 2022 - ncbi.nlm.nih.gov
ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of
monogenic diabetes in children and adolescents - PMC Back to Top Skip to main content NIH …

Lipodystrophies: genetic and acquired body fat disorders

A Garg - The Journal of Clinical Endocrinology & Metabolism, 2011 - academic.oup.com
Context: Lipodystrophies are heterogeneous, genetic or acquired disorders characterized by
selective loss of body fat and predisposition to insulin resistance. The extent of fat loss …

The human obesity gene map: the 2005 update

T Rankinen, A Zuberi, YC Chagnon, SJ Weisnagel… - …, 2006 - Wiley Online Library
This paper presents the 12th update of the human obesity gene map, which incorporates
published results up to the end of October 2005. Evidence from single‐gene mutation …

Congenital generalized lipodystrophies—new insights into metabolic dysfunction

N Patni, A Garg - Nature Reviews Endocrinology, 2015 - nature.com
Congenital generalized lipodystrophy (CGL) is a heterogeneous autosomal recessive
disorder characterized by a near complete lack of adipose tissue from birth and, later in life …

Diagnosis and treatment of lipodystrophy: a step-by-step approach

D Araújo-Vilar, F Santini - Journal of endocrinological investigation, 2019 - Springer
Aim Lipodystrophy syndromes are rare heterogeneous disorders characterized by
deficiency of adipose tissue, usually a decrease in leptin levels and, frequently, severe …

Acquired and inherited lipodystrophies

A Garg - New England Journal of Medicine, 2004 - Mass Medical Soc
Lipodystrophies, heterogeneous acquired or inherited disorders characterized by the
selective loss of adipose tissue, predispose affected patients to insulin resistance and its …