Congenital Generalized Lipodystrophy Type 2

Known as: Lipodystrophy, Congenital Generalized, Type 2, Berardinelli Seip Congenital Lipodystrophy Type 2, Total Lipodystrophy and Acromegaloid Gigantism 
It is caused by mutation of gene encoding seipin (BSCL2).
National Institutes of Health

Papers overview

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2011
2011
Fruiting body lectins are ubiquitous in higher fungi and characterized by being synthesized in the cytoplasm and up-regulated… (More)
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2010
2010
The physiological role of fungal galectins has remained elusive. Here, we show that feeding of a mushroom galectin, Coprinopsis… (More)
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Highly Cited
2009
Highly Cited
2009
Mutations in the Berardinelli-Seip congenital lipodystrophy 2 gene (BSCL2) are the underlying defect in patients with congenital… (More)
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Highly Cited
2009
Highly Cited
2009
Controversy exists as to whether endogenous cortisol production is associated with visceral obesity and insulin resistance in… (More)
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2009
2009
CONTEXT Congenital generalized lipodystrophy, or Berardinelli-Seip syndrome, is a rare autosomal recessive disease caused by… (More)
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Highly Cited
2008
Highly Cited
2008
CONTEXT Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare recessive disease characterized by near absence of adipose… (More)
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2008
2008
Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by extreme paucity of adipose… (More)
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2004
2004
Recognition of and discrimination between potential glyco-substrates is central to the function of galectins. Here we dissect the… (More)
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Highly Cited
2003
Highly Cited
2003
Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive syndrome characterized by extreme paucity of adipose… (More)
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1967
1967
Vengono descritti 6 pazienti con iperlipemia da carboidrati, diabete non chetonurico e obesità di medio grado. Il trattamento con… (More)
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