Molecular pathology of laminopathies
JY Shin, HJ Worman - Annual Review of Pathology …, 2022 - annualreviews.org
The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear
pore complexes. Laminopathies are diseases caused by mutations in genes encoding …
pore complexes. Laminopathies are diseases caused by mutations in genes encoding …
Metabolically healthy versus metabolically unhealthy obesity
C Iacobini, G Pugliese, CB Fantauzzi, M Federici… - Metabolism, 2019 - Elsevier
Obesity-related disease complications reduce life quality and expectancy and increase
health-care costs. Some studies have suggested that obesity not always entails metabolic …
health-care costs. Some studies have suggested that obesity not always entails metabolic …
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 …
Recent progress in genetics, epigenetics and metagenomics unveils the pathophysiology of human obesity
In high-, middle-and low-income countries, the rising prevalence of obesity is the underlying
cause of numerous health complications and increased mortality. Being a complex and …
cause of numerous health complications and increased mortality. Being a complex and …
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 missing link between genetic association and regulatory function
The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …
widely assumed that such alleles exert small regulatory effects on the expression of cis …
Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction
J Lammerding, PC Schulze… - The Journal of …, 2004 - Am Soc Clin Investig
Mutations in the lamin A/C gene (LMNA) cause a variety of human diseases including Emery-
Dreifuss muscular dystrophy, dilated cardiomyopathy, and Hutchinson-Gilford progeria …
Dreifuss muscular dystrophy, dilated cardiomyopathy, and Hutchinson-Gilford progeria …
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 …
Leptin-replacement therapy for lipodystrophy
EA Oral, V Simha, E Ruiz, A Andewelt… - … England Journal of …, 2002 - Mass Medical Soc
Background The adipocyte hormone leptin is important in regulating energy homeostasis.
Since severe lipodystrophy is associated with leptin deficiency, insulin resistance …
Since severe lipodystrophy is associated with leptin deficiency, insulin resistance …
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 …