Bscl full form
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Bscl full form
Metrics details. Berardinelli-Seip congenital lipodystrophy BSCL is a heterogeneous autosomal recessive disorder characterized by an almost total lack of adipose tissue in the body. We also inferred new candidate genes for BSCL through protein-protein interaction and phenotype-similarity. In addition, some significant correlations among BSCL-related phenotypes were identified. Our study largely enhances the current knowledge of phenotypic and genotypic heterogeneity of BSCL and promotes the more comprehensive understanding of pathogenic mechanisms for BSCL. BSCL is a rare hereditary disease characterized by near-complete absence of adipose tissue in the body [ 1 , 2 ]. Because whole body fat tissue lacks the ability to store fat, fat is enriched in the heart, liver and other organs [ 3 ]. This may lead to severe consequences such as diabetes mellitus, cardiomyopathy, hepatopathy, acanthosis nigricans and intellectual disability [ 4 , 5 ]. In addition, affected women tend to have hirsutism, clitoromegaly, irregular menstruation, and even symptom of infertility, which may be related to hormonal changes [ 6 , 7 ]. Most males with BSCL have normal reproductive capacity except a case with reported teratozoospermia [ 8 , 9 ]. No conclusion has been made whether there is a gender difference in the prevalence of phenotypes shared by male and female patients.
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If your institution subscribes to this resource, and you don't have an Access Profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus. Take the Access library with you wherever you go—easy access to books, videos, images, podcasts, personalized features, and more. Learn more here! Please consult the latest official manual style if you have any questions regarding the format accuracy. Inherited disorder with hyperinsulinemia caused by insulin resistance combined with lipodystrophy and acromegaloid features. First described in by Waldemar Berardinelli in two Brazilian children and 5 years later by Martin Seip who described three additional cases from Norway. Estimated prevalence is 0.
The full form of a B. Sc is a Bachelor of Science. Sc is a three-year science and technology undergraduate course. After passing the exam in the 12th class, it is a crucial degree course among science students. This period of the course can vary from country to country. It is a three-year program in India and a five-year program in Argentina. Sc is an undergraduate course available at basically all Indian universities.
Bscl full form
Bachelor of Science, popularly known as BSc, is an undergraduate degree programme specialising in science subjects. Bachelor of Science or BSc courses are mainly awarded to students who have pursued their bachelor's degree in Natural Sciences and Mathematics, although many institutes provide the BSc degree for non-science B. BSc course duration is of three years and the syllabus is divided into two semesters in each year. BSc course is the first step and foundation course for students having an interest in science and aspiring to make a career in science and its allied subjects. Students who have pursued BSc courses can pursue various fields, such as research, technology, healthcare, and education. BSc course is a stepping stone for further education and research, like pursuing a master's degree and doctoral degree in science subjects. In this article, we will discuss B. Sc course details, such as B.
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Kolkata Monorail Patna Monorail. None Of Your Business. Sign in via OpenAthens. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q Insulin resistance and cardiomyopathy are two typical symptoms of BSCL [ 68 ]. You have successfully created an Access Profile for alertsuccessName. Annu Rev Biochem. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q Background BSCL is a rare hereditary disease characterized by near-complete absence of adipose tissue in the body [ 1 , 2 ]. Agarwal AK, Garg A. Provided by the Springer Nature SharedIt content-sharing initiative. Figure 1 a shows the detailed workflow for the prediction of new candidate genes. Accessibility of full text and detailed description of phenotypic features of patients with BSCL were the two important collection criteria. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.
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Annu Rev Biochem. Cholesterol is a fundamental component of the cell membrane and is essential for maintaining membrane stability and fluidity. Phenotypical information of adult patients by BSCL type. Clin Endocrinol Oxf. Of the patients we analyzed, premature death was only found in BSCL type II and 21 patients 12 female and 9 male died. Insulin resistance and cardiomyopathy are two typical symptoms of BSCL [ 68 ]. The prevalence of BSCL is one in ten million, and the number of cases reported in the literature is about — [ 5 ]. Download references. Fibre BSCL provide a full range of reliable, scalable and advanced optical fibre network solutions. Estimated prevalence is 0. You can also search for this author in PubMed Google Scholar. Postmortem findings in congenital generalized lipodystrophy.
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