Institution
University of Paris
Education•Paris, France•
About: University of Paris is a education organization based out in Paris, France. It is known for research contribution in the topics: Population & Transplantation. The organization has 102426 authors who have published 174180 publications receiving 5041753 citations. The organization is also known as: Sorbonne.
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TL;DR: Isolated HSCR appears to be a non-Mendelian malformation with low, sex-dependent penetrance, and variable expression according to the length of the aganglionic segment, which stands as a model for genetic disorders with complex patterns of inheritance.
Abstract: Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a neurocristopathy and is characterised by the absence of the enteric ganglia along a variable length of the intestine. In the last decades, the development of surgical approaches has importantly decreased mortality and morbidity which allowed the emergence of familial cases. Isolated HSCR appears to be a non-Mendelian malformation with low, sex-dependent penetrance, and variable expression according to the length of the aganglionic segment. While all Mendelian modes of inheritance have been described in syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. The tyrosine kinase receptor RET is the major gene with both rare coding sequence mutations and/or a frequent variant located in an enhancer element predisposing to the disease. Hitherto, 10 genes and five loci have been found to be involved in HSCR development.
1,109 citations
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TL;DR: It is shown that improvement of the inflammatory profile after weight loss is related to a reduced number of macrophages in scWAT, and MCP-1, PLAUR, CSF-3, and HIF-1alpha may play roles in the attraction of macophages inscWAT.
Abstract: In human obesity, the stroma vascular fraction (SVF) of white adipose tissue (WAT) is enriched in macrophages. These cells may contribute to low-grade inflammation and to its metabolic complications. Little is known about the effect of weight loss on macrophages and genes involved in macrophage attraction. We examined subcutaneous WAT (scWAT) of 7 lean and 17 morbidly obese subjects before and 3 months after bypass surgery. Immunomorphological changes of the number of scWAT-infiltrating macrophages were evaluated, along with concomitant changes in expression of SVF-overexpressed genes. The number of scWAT-infiltrating macrophages before surgery was higher in obese than in lean subjects (HAM56+/CD68+; 22.6 +/- 4.3 vs. 1.4 +/- 0.6%, P < 0.001). Typical "crowns" of macrophages were observed around adipocytes. Drastic weight loss resulted in a significant decrease in macrophage number (-11.63 +/- 2.3%, P < 0.001), and remaining macrophages stained positive for the anti-inflammatory protein interleukin 10. Genes involved in macrophage attraction (monocyte chemotactic protein [MCP]-1, plasminogen activator urokinase receptor [PLAUR], and colony-stimulating factor [CSF]-3) and hypoxia (hypoxia-inducible factor-1alpha [HIF-1alpha]), expression of which increases in obesity and decreases after surgery, were predominantly expressed in the SVF. We show that improvement of the inflammatory profile after weight loss is related to a reduced number of macrophages in scWAT. MCP-1, PLAUR, CSF-3, and HIF-1alpha may play roles in the attraction of macrophages in scWAT.
1,108 citations
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University College London1, University of Cambridge2, University of California, Irvine3, University of Maryland, College Park4, University of Oxford5, Smithsonian Institution6, University of Greifswald7, Max Planck Society8, Imperial College London9, Harvard University10, University of East Anglia11, Mississippi State University12, University of Texas at Austin13, Commonwealth Scientific and Industrial Research Organisation14, University of Paris15, California Academy of Sciences16, University of Hawaii17, Williams College18, Yale University19, University of Puerto Rico20, Johns Hopkins University21, North Carolina State University22, University of Bristol23, University of Edinburgh24, Baylor College of Medicine25, Del Rosario University26, University of Exeter27, Boston University28
TL;DR: It is inferred that closely related Heliconius species exchange protective colour-pattern genes promiscuously, implying that hybridization has an important role in adaptive radiation.
Abstract: Sequencing of the genome of the butterfly Heliconius melpomene shows that closely related Heliconius species exchange protective colour-pattern genes promiscuously.
1,103 citations
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TL;DR: This analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome.
Abstract: The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. We have determined 99.3% of the euchromatic sequence of the X chromosome. Our analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome. LINE1 repeat elements cover one-third of the X chromosome, with a distribution that is consistent with their proposed role as way stations in the process of X-chromosome inactivation. We found 1,098 genes in the sequence, of which 99 encode proteins expressed in testis and in various tumour types. A disproportionately high number of mendelian diseases are documented for the X chromosome. Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence.
1,102 citations
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TL;DR: Results suggest that, as for leptin, circulating IL-6 concentrations reflect, at least in part, adipose tissue production reduced after weight loss, and could play a role in the improved sensitivity to insulin observed in these patients.
Abstract: The aim of this study was to investigate the potential role of adipose cytokines in the obesity-associated insulin resistance. To that end, we compared: 1) serum concentrations of interleukin 6 (IL-6), tumor necrosis factor a (TNFa), and leptin in eight healthy lean control females and in android obese female without (n 5 14) and with (n 5 7) type 2 diabetes; and 2) the levels of these cytokines both in serum and in sc adipose tissue in the 14 obese nondiabetic women before and after 3 weeks of a very low-calorie diet (VLCD). As compared with lean controls, obese nondiabetic and diabetic patients were more insulin resistant and presented increased values for leptin, IL-6, TNFa, and C-reactive protein. In the whole group, IL-6 values were more closely related to the parameters evaluating insulin resistance than leptin or TNFa values. VLCD resulted in weight loss and decreased body fat mass (;3 kg). Insulin sensitivity was improved with no significant change in both serum and adipose tissue TNFa levels. In contrast, VLCD induced significant decreases in IL-6 and leptin levels in both adipose tissue and serum. These results suggest that, as for leptin, circulating IL-6 concentrations reflect, at least in part, adipose tissue production. The reduced production and serum concentrations after weight loss could play a role in the improved sensitivity to insulin observed in these patients. (J Clin Endocrinol Metab 85: 3338 ‐3342, 2000)
1,099 citations
Authors
Showing all 102613 results
Name | H-index | Papers | Citations |
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Guido Kroemer | 236 | 1404 | 246571 |
David H. Weinberg | 183 | 700 | 171424 |
Paul M. Thompson | 183 | 2271 | 146736 |
Chris Sander | 178 | 713 | 233287 |
Sophie Henrot-Versille | 171 | 957 | 157040 |
Richard H. Friend | 169 | 1182 | 140032 |
George P. Chrousos | 169 | 1612 | 120752 |
Mika Kivimäki | 166 | 1515 | 141468 |
Martin Karplus | 163 | 831 | 138492 |
William J. Sandborn | 162 | 1317 | 108564 |
Darien Wood | 160 | 2174 | 136596 |
Monique M.B. Breteler | 159 | 546 | 93762 |
Paul Emery | 158 | 1314 | 121293 |
Wolfgang Wagner | 156 | 2342 | 123391 |
Joao Seixas | 153 | 1538 | 115070 |