Institution
Paris Descartes University
Government•Paris, France•
About: Paris Descartes University is a government organization based out in Paris, France. It is known for research contribution in the topics: Population & Immune system. The organization has 20987 authors who have published 37456 publications receiving 1206222 citations. The organization is also known as: Université Paris V-Descartes & Université de Paris V.
Topics: Population, Immune system, Cancer, Transplantation, Pregnancy
Papers published on a yearly basis
Papers
More filters
••
University of Amsterdam1, University College London2, Sheba Medical Center3, National and Kapodistrian University of Athens4, Paris Descartes University5, Centre Hospitalier Regional et Universitaire de Lille6, Lille University of Science and Technology7, University of Turin8, Maastricht University9, French Institute of Health and Medical Research10, Seconda Università degli Studi di Napoli11, Charles University in Prague12, Odense University Hospital13, University Medical Center Groningen14, University Medical Center15, Freeman Hospital16, University of Padua17
TL;DR: A revised definition of dilated cardiomyopathy (DCM) is proposed in an attempt to bridge the gap between recent understanding of the disease spectrum and its clinical presentation in relatives, which is key for early diagnosis and the institution of potential preventative measures.
Abstract: In this paper the Working Group on Myocardial and Pericardial Disease proposes a revised definition of dilated cardiomyopathy (DCM) in an attempt to bridge the gap between our recent understanding of the disease spectrum and its clinical presentation in relatives, which is key for early diagnosis and the institution of potential preventative measures. We also provide practical hints to identify subsets of the DCM syndrome where aetiology directed management has great clinical relevance.
707 citations
••
TL;DR: It is shown that the gene for the D2 receptor produces two receptor isoforms by alternative messenger RNA splicing, providing a route to receptor diversity in this family of receptors.
Abstract: Dopamine receptors are classified into D1 and D2 subtypes on the basis of their pharmacological properties and the intracellular responses they mediate. The cerebral D2 dopamine receptor is the target of drugs used to alleviate the main symptoms of schizophrenia. Although it is considered to be a single molecular entity, there is evidence that multiple D2-receptor subtypes exist. A complementary DNA encoding a D2 receptor has recently been cloned and the deduced 415-amino-acid sequence indicates that it belongs to the large superfamily of receptors coupled to G proteins, and that its topology consists of seven transmembrane domains. In this family, the genes are frequently without introns and each is believed to encode a unique polypeptide product. Here we show that the gene for the D2 receptor produces two receptor isoforms by alternative messenger RNA splicing, providing a route to receptor diversity in this family. One isoform corresponds to the D2(415) receptor, but the second contains an additional sequence encoding a 29-amino-acid fragment, defining a novel D2(444) receptor isoform. Expression of the two isoforms is tissue-specific, and both are regulated by guanyl nucleotides. As the extra sequence is located within a putative cytoplasmic loop that binds to G proteins, the two isoforms might interact with different G proteins and thereby initiate distinct intracellular signals.
705 citations
••
TL;DR: The better WG prognosis for Patients with ENT manifestations, even for patients with other visceral involvement, compared with the prognosis with those without ENT manifestation, probably reflects WG phenotype heterogeneity.
700 citations
••
French Institute of Health and Medical Research1, Rockefeller University2, Paris Descartes University3, University of Debrecen4, Academy of Medical Sciences, United Kingdom5, Charité6, University of Zurich7, Ludwig Maximilian University of Munich8, Rappaport Faculty of Medicine9, Hiroshima University10, Uludağ University11, Boston Children's Hospital12
TL;DR: Whole-exome sequencing reveals activating STAT1 mutations in some patients with autosomal dominant chronic mucocutaneous candidiasis disease.
Abstract: Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant (AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency. Here, using whole-exome sequencing, we identified heterozygous germline mutations in STAT1 in 47 patients from 20 kindreds with AD CMCD. Previously described heterozygous STAT1 mutant alleles are loss-of-function and cause AD predisposition to mycobacterial disease caused by impaired STAT1-dependent cellular responses to IFN-γ. Other loss-of-function STAT1 alleles cause AR predisposition to intracellular bacterial and viral diseases, caused by impaired STAT1-dependent responses to IFN-α/β, IFN-γ, IFN-λ, and IL-27. In contrast, the 12 AD CMCD-inducing STAT1 mutant alleles described here are gain-of-function and increase STAT1-dependent cellular responses to these cytokines, and to cytokines that predominantly activate STAT3, such as IL-6 and IL-21. All of these mutations affect the coiled-coil domain and impair the nuclear dephosphorylation of activated STAT1, accounting for their gain-of-function and dominance. Stronger cellular responses to the STAT1-dependent IL-17 inhibitors IFN-α/β, IFN-γ, and IL-27, and stronger STAT1 activation in response to the STAT3-dependent IL-17 inducers IL-6 and IL-21, hinder the development of T cells producing IL-17A, IL-17F, and IL-22. Gain-of-function STAT1 alleles therefore cause AD CMCD by impairing IL-17 immunity.
699 citations
••
TL;DR: The cellular and molecular mechanisms that account for the most deleterious effect of hepatic inflammation at the cellular level are discussed, that is, the initiation of a massive cell death response among hepatocytes.
696 citations
Authors
Showing all 21023 results
Name | H-index | Papers | Citations |
---|---|---|---|
Guido Kroemer | 236 | 1404 | 246571 |
Cyrus Cooper | 204 | 1869 | 206782 |
Jean-Laurent Casanova | 144 | 842 | 76173 |
Alain Fischer | 143 | 770 | 81680 |
Maxime Dougados | 134 | 1054 | 69979 |
Carlos López-Otín | 126 | 494 | 83933 |
Giuseppe Viale | 123 | 740 | 72799 |
Thierry Poynard | 119 | 668 | 64548 |
Lorenzo Galluzzi | 118 | 477 | 71436 |
Shahrokh F. Shariat | 118 | 1637 | 58900 |
Richard E. Tremblay | 116 | 685 | 45844 |
Olivier Hermine | 111 | 1026 | 43779 |
Yehezkel Ben-Ari | 110 | 459 | 44293 |
Loïc Guillevin | 108 | 800 | 51085 |
Gérard Socié | 107 | 920 | 44186 |