Monogenic diabetes: a gateway to precision medicine in diabetes
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 …
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
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 …
selective loss of adipose tissue, predispose affected patients to insulin resistance and its …