Associated Papers
The blood transcriptome of the human congenital generalized lipodystrophy.
Ferreira LC et al.
Endocrine, 2025
The Role of the AGPAT2 Gene in Adipose Tissue Biology and Congenital Generalized Lipodystrophy Pathophysiology.
de Melo MEC et al.
International Journal of Molecular Sciences, 2025
Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.
Topping J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies.
Araújo de Melo Campos JT et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
Targeted massively parallel sequencing for congenital generalized lipodystrophy.
Costa-Riquetto AD et al.
Archives of Endocrinology and Metabolism, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
[Multiple subcutaneous nodules for 46 days in an infant aged 66 days].
Guo DD et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020
Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.
Ceccarini G et al.
Frontiers in Endocrinology, 2020
Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications.
Montenegro Junior RM et al.
Diabetology & Metabolic Syndrome, 2020
A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.
Broekema MF et al.
Frontiers in Physiology, 2018
Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases.
Teboul-Coré S et al.
Skeletal Radiology, 2016
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.
Akinci B et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Towards a mechanistic understanding of lipodystrophy and seipin functions.
Wee K et al.
Bioscience Reports, 2014
Genetic basis of congenital generalized lipodystrophy.
Agarwal AK et al.
International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity, 2004
Prevalence of mutations in AGPAT2 among human lipodystrophies.
Magré J et al.
Diabetes, 2003