(redirected from Berardinelli-Seip Congenital Lipodystrophy)
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BSCLBerardinelli-Seip Congenital Lipodystrophy
BSCLBasic Support for Collaborative Learning (educational software)
BSCLBiomass Surface Characterization Laboratory (National Renewable Energy Laboratory)
BSCLBurn Standard Company Ltd. (engineering; Kolkata, India)
BSCLBerbice Cricket League (Guyana)
BSCLBell System Common Language
BSCLBasic Sinus Cycle Length
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References in periodicals archive ?
Chan, "The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation," Endocrinology, vol.
Abbreviations BSCL2: Berardinelli-Seip congenital lipodystrophy CMT2D: Charcot-Marie-Tooth 2D DCTN1: Dynactin subunit 1 dHMN: Distal hereditary motor neuropathies dSMA-V: Distal spinal muscular atrophy type V dSMA-Va: Distal spinal muscular atrophy type Va EMG: Electromyography ETC: Mitochondrial respiratory chain enzyme analysis GARS: Glycyl tRNA synthetase IGHMBP2: Immunoglobulin [mu]-binding protein-2 L: Leucine R: Arginine SETX: Senataxin sHSP: Small heat shock proteins SMA: Spinal muscular atrophy RSV: Respiratory syncytial virus VUS: Variant of unknown significance WES: Whole exome sequencing.
Furthermore, the development of lipodystrophy is correlated with the mutations of several genes participating in adipose metabolism, such as peroxisome proliferator-activated receptor [gamma] (PPAR[gamma]), 1-acylglycerol-3-phosphate-O-acyltransferase2 (AGPAT2), and Berardinelli-Seip congenital lipodystrophy (BSCL2), suggesting that this disease may be associated with adipocyte differentiation and lipid synthesis disorders in adipocytes [8].
Berardinelli-Seip congenital lipodystrophy. Orphanet Encyclopedia.
Mutations in two genes: 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2) and Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) account for the majority of cases and were identified through linkage analysis with positional cloning in affected families [114, 115].