Title |
A mutation in the c-Fos gene associated with congenital generalized lipodystrophy
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Published in |
Orphanet Journal of Rare Diseases, August 2013
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DOI | 10.1186/1750-1172-8-119 |
Pubmed ID | |
Authors |
Birgit Knebel, Jorg Kotzka, Stefan Lehr, Sonja Hartwig, Haluk Avci, Sylvia Jacob, Ulrike Nitzgen, Martina Schiller, Winfried März, Michael M Hoffmann, Eva Seemanova, Jutta Haas, Dirk Muller-Wieland |
Abstract |
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 candidates. Several genes (BSCL1-4) were found to be associated to the syndrome but not all CGL patients carry mutations in these genes. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 33% |
France | 1 | 33% |
Unknown | 1 | 33% |
Demographic breakdown
Type | Count | As % |
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Scientists | 2 | 67% |
Members of the public | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 31 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 7 | 23% |
Researcher | 6 | 19% |
Student > Master | 6 | 19% |
Professor > Associate Professor | 3 | 10% |
Student > Doctoral Student | 2 | 6% |
Other | 6 | 19% |
Unknown | 1 | 3% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 7 | 23% |
Biochemistry, Genetics and Molecular Biology | 6 | 19% |
Agricultural and Biological Sciences | 3 | 10% |
Nursing and Health Professions | 3 | 10% |
Engineering | 2 | 6% |
Other | 6 | 19% |
Unknown | 4 | 13% |