نتایج جستجو برای: seip
تعداد نتایج: 176 فیلتر نتایج به سال:
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 ...
We present a clean, magnitude-limited (IRAC1 or WISE1$\leq$15.0 mag) multiwavelength source catalog for the LMC. The was built upon crossmatching ($1''$) and deblending ($3''$) between SEIP list Gaia DR2, with strict constraints on astrometric solution to remove foreground contamination. contains 197,004 targets in 52 different bands including 2 ultraviolet, 21 optical, 29 infrared bands. Addit...
BACKGROUND Congenital generalized lipodystrophy (CGL) or Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare genetic syndrome characterized by the absence of adipose tissue. As CGL is thought to be related to malfunctions in adipocyte development, genes involved in the mechanisms of adipocyte biology and maintenance or differentiation of adipocytes, especially transcription factors are ...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید