Alternative Splicing Regulation in Metabolic Disorders
ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley +1 more source
Partial lipodystrophy in a girl
A 9-year old girl presented with a 2-year history of severe loss of subcutaneous fat in her face. Her medical history included a self-limited episode of jaundice and mild fever 2 years prior. Laboratory examination revealed low serum C3 but normal serum C4. Renal function tests were normal. Low C3 can be a warning sign in patients partial lipodystrophy;
Shamsadini, Dr Sadollah+1 more
openaire +5 more sources
Combination antiretroviral therapy -associated lipodystrophy : insights into pathogenesis and treatment [PDF]
Introduction: Combination antiretroviral therapy (cART) has decreased morbidity and mortality of individuals infected with human immunodeficiency virus type 1 (HIV-1). Its use, however, is associated with adverse effects which increase the patients risk
Sevastianova, Ksenia
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Adipokines, hormones related to body composition, and insulin resistance in HIV fat redistribution syndrome [PDF]
BACKGROUND: Lipodystrophies are characterized by adipose tissue redistribution, insulin resistance (IR) and metabolic complications. Adipokines and hormones related to body composition may play an important role linking these alterations.
Carvalho, Davide+7 more
core +1 more source
Leptin and Acute Lung Disorders
Leptin, an adipocyte‐derived cytokine‐like hormone, plays a crucial role in metabolism and immunity but its role in acute lung disorders such as acute respiratory distress syndrome (ARDS) remains controversial. Elucidating leptin's role in lung inflammation, and its interplay with metabolic disorders like obesity, will help designing therapeutical ...
Alice Huertas, Jahar Bhattacharya
wiley +1 more source
Targeting ATGL to rescue BSCL2 lipodystrophy and its associated cardiomyopathy.
Mutations in BSCL2 gene underlie human type 2 Berardinelli-Seip Congenital Lipodystrophy (BSCL2) disease. Global Bscl2-/- mice recapitulate human BSCL2 lipodystrophy and develop insulin resistance and hypertrophic cardiomyopathy.
Hongyi Zhou+7 more
semanticscholar +1 more source
A neuronal relay mediates a nutrient responsive gut/fat body axis regulating energy homeostasis in adult Drosophila [PDF]
The control of systemic metabolic homeostasis involves complex inter-tissue programs that coordinate energy production, storage, and consumption, to maintain organismal fitness upon environmental challenges.
Bauer, Christin+8 more
core +1 more source
Type 1 diabetes presenting in adults: Trends, diagnostic challenges and unique features
Abstract Type 1 diabetes (T1D) has been historically regarded as a childhood‐onset disease; however, recent epidemiological data indicate that adult‐onset T1D accounts for a substantial proportion of cases worldwide. There is evidence that adult‐onset T1D is associated with the classic T1D triad of elevated genetic risk, the presence of islet‐specific ...
Carmella Evans‐Molina, Richard A. Oram
wiley +1 more source
Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy
Context Heterozygous frameshift variants in PLIN1 encoding perilipin-1, a key protein for lipid droplet formation and triglyceride metabolism, have been implicated in familial partial lipodystrophy type 4 (FPLD4), a rare entity with only six families ...
I. Jéru+9 more
semanticscholar +1 more source
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima+18 more
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