نتایج جستجو برای: berardinelli
تعداد نتایج: 127 فیلتر نتایج به سال:
This account by James Stephens (1912) of no less than six male leprechauns seen simultaneously has not been improved upon, for the medical literature to date includes descriptive accounts of only five examples of the rare syndrome of leprechaunism, and only one of these is male. Leprechaunism was first described by Donohue (1948) and later by Donohue and Uchida (1954), Evans (1955), Schaffer (1...
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,...
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...
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