Associated Papers
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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants.
Liu Y et al.
European Journal of Medical Genetics, 2019
Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.
Vatier C et al.
Current Medical Research and Opinion, 2019
A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.
Broekema MF et al.
Frontiers in Physiology, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.
Akinci B et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.
Haghighi A et al.
Clinical Genetics, 2016
Congenital generalized lipodystrophies--new insights into metabolic dysfunction.
Patni N et al.
Nature Reviews. Endocrinology, 2015
Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy.
Haque W et al.
Biochemical and Biophysical Research Communications, 2005
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.
Fu M et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
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
Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes.
Simha V et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.
Agarwal AK et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways.
Agarwal AK et al.
Trends in Endocrinology and Metabolism: Tem, 2003
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.
Agarwal AK et al.
Nature Genetics, 2002
The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy.
Craveiro Sarmento AS et al.
Mutation Research. Reviews in Mutation Research, 0