نتایج جستجو برای: seip lypodystrophy
تعداد نتایج: 181 فیلتر نتایج به سال:
A Síndrome de Berardinelli-Seip (SBS) é uma rara doença genética autossômica recessiva, alta prevalência no Rio Grande do Norte (RN), Brasil. O presente trabalho objetivou relatar a experiência dos acadêmicos enfermagem, nutrição, psicologia e fisioterapia da Faculdade Ciências Saúde Trairi (FACISA) durante ações multiprofissionais que englobavam pais pessoas com SBS RN. Nesse projeto, foram re...
Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive human disorder with severe adverse metabolic consequences. A gene on chromosome 9 (BSCL1) has recently been identified, predominantly in African-American families. More recently, mutations in a previously undescribed gene of unknown function (BSCL2) on chromosome 11, termed seipin, have been found to be...
Lipid droplets (LDs) are emerging cellular organelles that are of crucial importance in cell biology and human diseases. In this study, we present our screen of approximately 4,700 Saccharomyces cerevisiae mutants for abnormalities in the number and morphology of LDs; we identify 17 fld (few LDs) and 116 mld (many LDs) mutants. One of the fld mutants (fld1) is caused by the deletion of YLR404W,...
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