Anil K. Agarwal
University of Texas Southwestern Medical Center
143 Papers
799 Citations
Anil K. Agarwal is an academic researcher from University of Texas Southwestern Medical Center. The author has contributed to research in topics: Lipodystrophy & Adipose tissue. The author has an hindex of 46, co-authored 131 publications. Previous affiliations of Anil K. Agarwal include Central Drug Research Institute & University of Texas at Austin.
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Papers
Human hypertension caused by mutations in the kidney isozyme of 11β–hydroxysteroid dehydrogenase
TL;DR: The gene encoding the kidney isozyme of 11βHSD is analysed and mutations on both alleles in nine of 11 AME patients (eight of nine kindreds) markedly affect enzymatic activity and permit cortisol to occupy the renal mineralocorticoid receptor and thereby cause sodium retention and hypertension.
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The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology
Kimberly M. Szymanski,Derk D. Binns,René Bartz,Nick V. Grishin,Wei Ping Li,Anil K. Agarwal,Abhimanyu Garg,Richard G.W. Anderson,Joel M. Goodman +8 more
TL;DR: It is hypothesized that seipin is important for droplet maintenance and perhaps assembly, and 58 other genes whose deletions cause aberrant lipid droplets are identified, including 2 genes encoding proteins known to activate lipin, a lipodystrophy locus in mice, and 16 other genes that are involved in endosomal–lysosomal trafficking.
606
11β-Hydroxysteroid Dehydrogenase and the Syndrome of Apparent Mineralocorticoid Excess
TL;DR: Mutations in the HSD11B2 (HSD11K) gene encoding the kidney isozyme of 11-HSD have been detected in all kindreds with AME studied thus far, and this gene represents a candidate locus for the common, "essential" form of hypertension.
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.
Anil K. Agarwal,Elif Arioglu,Salome De Almeida,Nurullah Akkoc,Simeon I. Taylor,Anne M. Bowcock,Robert Barnes,Abhimanyu Garg +7 more
TL;DR: It is concluded that mutations in AGPAT2 may cause congenital generalized lipodystrophy by inhibiting triacylglycerol synthesis and storage in adipocytes.
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
TL;DR: It is concluded that mutations in ZMPSTE24 may cause MAD by affecting prelamin A processing by affecting the mating defect of the haploid MATa yeast lacking STE24 and Ras-converting enzyme 1 (RCE1; another prenylprotein-specific endoprotease) genes.