نتایج جستجو برای: seip lypodystrophy

تعداد نتایج: 181  

Journal: :Transactions of the American Mathematical Society 2021

In every dimension $d \geq 2$, we give an explicit formula that expresses the values of any Schwartz function on $\mathbb {R}^d$ only in terms its restrictions, and restrictions Fourier transform, to all origin-centered spheres whose radius is square root integer. We thus generalize interpolation theorem by Radchenko Viazovska [Publ. Math. Inst. Hautes Études Sci. 129 (2019), pp. 51–81] high...

Journal: :Archives of disease in childhood 1961
B SENIOR

A bizarre disorder was recently encountered in a female child. There was severe lipodystrophy affecting the entire body, generalized muscular hypertrophy, large hands and feet, a markedly protuberant abdomen, hepatomegaly with biochemical and histological evidence of liver dysfunction, a large clitoris, enlarged cystic ovaries and a low fasting blood sugar concentration. This entity is not uniq...

2016
Martin Pagac Daniel E. Cooper Yanfei Qi Ivan E. Lukmantara Hoi Yin Mak Zengying Wu Yuan Tian Zhonghua Liu Mona Lei Ximing Du Charles Ferguson Damian Kotevski Pawel Sadowski Weiqin Chen Salome Boroda Thurl E. Harris George Liu Robert G. Parton Xun Huang Rosalind A. Coleman Hongyuan Yang

Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) is caused by loss-of-function mutations in SEIPIN, a protein implicated in both adipogenesis and lipid droplet expansion but whose molecular function remains obscure. Here, we identify physical and functional interactions between SEIPIN and microsomal isoforms of glycerol-3-phosphate acyltransferase (GPAT) in multiple organisms. Compared to c...

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