نتایج جستجو برای: berardinelli
تعداد نتایج: 127 فیلتر نتایج به سال:
Virgínia Oliveira Fernandes, Ana Paula Dias Rangel Montenegro, Clarisse Mourão Melo Ponte, Lia Beatriz de Azevedo Souza Karbage, Manuela Montenegro Dias de Carvalho, Daniel Duarte Gadelha, Synara Cavalcante Lopes, Marivaldo Loyola Aragão, Ana Paula Abreu Martins Sales, Cristiane Bezerra Rocha Liberato, Ana Gardênia Liberato Ponte Farias, Catarina Brasil D’Alva, Francisco Herlânio Costa Carvalho...
A 3-year-old female patient presenting with an unknown syndrome of a neonatal progeroid appearance, lipodystrophy, pulmonary hypertension, cutis marmorata, feeding disorder and failure to thrive was investigated by whole-genome sequencing. This revealed a de novo, heterozygous, frame-shift mutation in the Caveolin1 gene (CAV1) (p.Phe160X). Mutations in CAV1, encoding the main component of the c...
The endoplasmic reticulum localised protein seipin, encoded by the gene Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2), serves a critical but poorly defined function in the physiology of both adipose and neural tissue. In humans, BSCL2 loss-of-function mutations cause a severe form of lipodystrophy, whilst a distinct set of gain-of-toxic-function mutations are associated with a heter...
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