[HTML][HTML] Adipose tissue: physiology to metabolic dysfunction
Like the obesity epidemic, our understanding of adipocytes and adipose tissue is
expanding. Just in the past decade, substantial advances have led to new insights into the …
expanding. Just in the past decade, substantial advances have led to new insights into the …
Fatty liver in lipodystrophy: a review with a focus on therapeutic perspectives of adiponectin and/or leptin replacement
Lipodystrophy is a group of clinically heterogeneous, inherited or acquired, disorders
characterized by complete or partial absence of subcutaneous adipose tissue that may …
characterized by complete or partial absence of subcutaneous adipose tissue that may …
Lipodystrophies, dyslipidaemias and atherosclerotic cardiovascular disease
I Hussain, N Patni, A Garg - Pathology, 2019 - Elsevier
Lipodystrophies are rare, heterogeneous, genetic or acquired, disorders characterised by
varying degrees of body fat loss and associated metabolic complications, including insulin …
varying degrees of body fat loss and associated metabolic complications, including insulin …
Nucleoplasmic lamin C rapidly accumulates at sites of nuclear envelope rupture with BAF and cGAS
In mammalian cell nuclei, the nuclear lamina (NL) underlies the nuclear envelope (NE) to
maintain nuclear structure. The nuclear lamins, the major structural components of the NL …
maintain nuclear structure. The nuclear lamins, the major structural components of the NL …
Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review
A Fernandez-Pombo, EJ Diaz-Lopez, AI Castro… - Cells, 2023 - mdpi.com
Type 2 familial partial lipodystrophy (FPLD2) is a laminopathic lipodystrophy due to
pathogenic variants in the LMNA gene. Its rarity implies that it is not well-known. The aim of …
pathogenic variants in the LMNA gene. Its rarity implies that it is not well-known. The aim of …
Deciphering the clinical presentations in LMNA-related lipodystrophy: report of 115 cases and a systematic review
O Besci, MC Foss de Freitas… - The Journal of …, 2024 - academic.oup.com
Context Lipodystrophy syndromes are a heterogeneous group of rare genetic or acquired
disorders characterized by generalized or partial loss of adipose tissue. LMNA-related …
disorders characterized by generalized or partial loss of adipose tissue. LMNA-related …
Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy
Purpose To evaluate the effects of metreleptin in patients with partial lipodystrophy (PL).
Methods Patients aged≥ 6 months with PL, circulating leptin< 12.0 ng/mL, and diabetes …
Methods Patients aged≥ 6 months with PL, circulating leptin< 12.0 ng/mL, and diabetes …
[HTML][HTML] Lipodystrophy syndromes: presentation and treatment
Lipodystrophy syndromes are a heterogeneous group of diseases, characterized by
selective absence of adipose tissue. In one sense, these diseases are lipid-partitioning …
selective absence of adipose tissue. In one sense, these diseases are lipid-partitioning …
Phenotypic and genetic characteristics of lipodystrophy: pathophysiology, metabolic abnormalities, and comorbidities
Purpose of review This article focuses on recent progress in understanding the genetics of
lipodystrophy syndromes, the pathophysiology of severe metabolic abnormalities caused by …
lipodystrophy syndromes, the pathophysiology of severe metabolic abnormalities caused by …
Rare Variation in LMNA Underlies Polycystic Ovary Syndrome Pathogenesis in 2 Independent Cohorts
R Bauer, C Parker, LK Gorsic, MG Hayes… - The Journal of …, 2024 - academic.oup.com
Context Polycystic ovary syndrome (PCOS) is a common, heritable endocrinopathy that is a
common cause of anovulatory infertility in reproductive age women. Variants in LMNA cause …
common cause of anovulatory infertility in reproductive age women. Variants in LMNA cause …