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A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skip** exons and esca** nonsense-mediated decay
We report a Japanese patient with tall stature, dolichocephaly, prominent forehead, narrow nasal ridge, mild retrognathia, subcutaneous fat...
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Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy
Generalized lipodystrophy is a feature of various hereditary disorders, often leading to a progeroid appearance. In the present study we identified a...
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A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient
BackgroundMandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL; OMIM# 615381) is a rare autosomal dominant disorder,...
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MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
The MCM2-7 helicase is a heterohexameric complex with essential roles as part of both the pre-replication and pre-initiation complexes in the early...
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Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
Phospholipase A/acyltransferase 3 (PLAAT3) is a phospholipid-modifying enzyme predominantly expressed in neural and white adipose tissue (WAT). It is...
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Multi-ancestry polygenic mechanisms of type 2 diabetes
Type 2 diabetes (T2D) is a multifactorial disease with substantial genetic risk, for which the underlying biological mechanisms are not fully...
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Transcriptional, epigenetic and metabolic signatures in cardiometabolic syndrome defined by extreme phenotypes
BackgroundThis work is aimed at improving the understanding of cardiometabolic syndrome pathophysiology and its relationship with thrombosis by...
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Development of Antisense Oligonucleotide Gapmers for the Treatment of Dyslipidemia and Lipodystrophy
Although technological advances in molecular genetics over the last few decades have greatly expedited the identification of mutations in many...
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Endocrine Consequences Following Immune Checkpoint Inhibitors Therapy
Immune checkpoint inhibitors (ICIs) are a novel drug category enhancing the patient’s immune response against tumors. Their approval in cancer...
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Seipin Deficiency Leads to Energy Dyshomeostasis via Inducing Hypothalamic Neuroinflammation and Aberrant Expression of Neuropeptides
Seipin is a key regulator of lipid metabolism, the deficiency of which leads to severe lipodystrophy. Hypothalamus is the pivotal center of brain...
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Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1
DNA polymerase δ is one of the three main enzymes responsible for DNA replication. POLD1 heterozygous missense variants in the exonuclease domain...
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Altered adipocyte differentiation and unbalanced autophagy in type 2 Familial Partial Lipodystrophy: an in vitro and in vivo study of adipose tissue browning
Type-2 Familial Partial Lipodystrophy is caused by LMNA mutations. Patients gradually lose subcutaneous fat from the limbs, while they accumulate...
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Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment
The ubiquitin–proteasome system (UPS) has a critical role in post-translational protein modification that is essential for the maintenance of all...
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Subcutaneous Transplantation of White Adipose Tissue
In the research setting, white adipose tissue (WAT) transplantation, also known as fat transplantation, is often used to understand the physiological...
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Leptin as a Biomarker in Nutrition and Metabolism
Obesity and its associated metabolic diseases became a major health problem and leading eventually to cardiovascular diseases and increased morbidity...
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Letter N
Naegeli-de Quervain-Stalder method is a method for demonstrating cell-combined allergic antibodies. The researchers by means of a Thiersch graft (a...