نتایج جستجو برای: seip lypodystrophy
تعداد نتایج: 181 فیلتر نتایج به سال:
Accurate measurements of statistical properties, such as the star formation rate and lifetime young stellar objects (YSOs) in different stages, are essential for constraining theories. However, it is a difficult task to separate galaxies YSOs based on spectral energy distributions (SEDs) alone, because they contain both thermal emission from stars dust around them no reliable theories can be ap...
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 concept that the hypothalamus controls anterior pituitary function via the production of neurohormonal releasing and inhibitory factors (RFs and IFs, respectively) is well documented (1). There is a growing body of evidence relating endocrine disorders to hypothalamic dysfunction that has resulted in a wide variety of endocrine and metabolic imbalances (2, 3). In an effort to explain the pa...
Mutation testing assesses test suite efficacy by inserting small faults into programs and measuring the ability of the test suite to detect them. It is widely considered the strongest test criterion in terms of finding the most faults and it subsumes a number of other coverage criteria. Traditional mutation analysis is computationally prohibitive which hinders its adoption as an industry standa...
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...
OBJECTIVE Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is a recessive disorder featuring near complete absence of adipose tissue. Remarkably, although the causative gene, BSCL2, has been known for several years, its molecular function and its role in adipose tissue development have not been elucidated. Therefore, we examined whether BSCL2 is involved in the regulation of adipocyte ...
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