Institution
University of Rouen
Education•Rouen, France•
About: University of Rouen is a education organization based out in Rouen, France. It is known for research contribution in the topics: Population & Receptor. The organization has 7299 authors who have published 13209 publications receiving 313477 citations.
Topics: Population, Receptor, Laser, Atom probe, Membrane
Papers published on a yearly basis
Papers
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University of Geneva1, University of Ferrara2, UCL Institute of Child Health3, Yale University4, University of Paris5, University College London6, University of Rouen7, University of Nottingham8, Geneva College9, University of Burgundy10, University of Grenoble11, Great Ormond Street Hospital12, Alexandria University13, Great Ormond Street Hospital for Children NHS Foundation Trust14, King's College London15, National Institutes of Health16
TL;DR: It is proposed that PIH1D3, a protein that emerges as a new player of the cytoplasmic pre-assembly pathway, is part of a complementary conserved R2TP-like HSP90 co-chaperone complex, the loss of which affects assembly of a subset of inner arm dyneins.
Abstract: By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid. Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-assembly of dynein arm motors into cilia and flagella axonemes. Before their import into cilia and flagella, multi-subunit axonemal dynein arms are thought to be stabilized and pre-assembled in the cytoplasm through a DNAAF2–DNAAF4–HSP90 complex akin to the HSP90 co-chaperone R2TP complex. Here, we demonstrate that large genomic deletions as well as point mutations involving PIH1D3 are responsible for an X-linked form of PCD causing disruption of early axonemal dynein assembly. We propose that PIH1D3, a protein that emerges as a new player of the cytoplasmic pre-assembly pathway, is part of a complementary conserved R2TP-like HSP90 co-chaperone complex, the loss of which affects assembly of a subset of inner arm dyneins.
122 citations
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TL;DR: A very fast new family of string matching algorithms based on hashing q-grams are proposed, which are the fastest on many cases, in particular, on small size alphabets.
122 citations
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TL;DR: It is confirmed that BBS1 and BBS10 are the most frequently mutated genes, followed by BBS12, and the various strategies for diagnostic mutation detection, including homozygosity mapping and targeted arrays for the detection of previously reported mutations are discussed.
Abstract: Bardet-Biedl syndrome (BBS), an emblematic disease in the rapidly evolving field of ciliopathies, is characterized by pleiotropic clinical features and extensive genetic heterogeneity. To date, 14 BBS genes have been identified, 3 of which have been found mutated only in a single BBS family each (BBS11/TRIM32, BBS13/MKS1 and BBS14/MKS4/NPHP6). Previous reports of systematic mutation detection in large cohorts of BBS families (n > 90) have dealt only with a single gene, or at most small subsets of the known BBS genes. Here we report extensive analysis of a cohort of 174 BBS families for 12/14 genes, leading to the identification of 28 novel mutations. Two pathogenic mutations in a single gene have been found in 117 families, and a single heterozygous mutation in 17 families (of which 8 involve the BBS1 recurrent mutation, M390R). We confirm that BBS1 and BBS10 are the most frequently mutated genes, followed by BBS12. No mutations have been found in BBS11/TRIM32, the identification of which as a BBS gene only relies on a single missense mutation in a single consanguineous family. While a third variant allele has been observed in a few families, they are in most cases missenses of uncertain pathogenicity, contrasting with the type of mutations observed as two alleles in a single gene. We discuss the various strategies for diagnostic mutation detection, including homozygosity mapping and targeted arrays for the detection of previously reported mutations.
122 citations
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TL;DR: It is shown here that N‐glycans carrying core α1→3‐Fuc and β1→2‐Xyl antigens are synthesized by many parasitic helminths and also by the free living nematode Caenorhabditis elegans.
122 citations
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TL;DR: The G-X- X-P motif found in alamethicin appears to be largely responsible for mediating high-amplitude bending motions that have been observed in the central helical domain of alamETHicin in methanol.
122 citations
Authors
Showing all 7360 results
Name | H-index | Papers | Citations |
---|---|---|---|
Yves Agid | 141 | 669 | 74441 |
Alexis Brice | 135 | 870 | 83466 |
Mohamed Eddaoudi | 94 | 327 | 64217 |
Hervé Tilly | 86 | 479 | 30321 |
David Cohen | 83 | 635 | 37722 |
Jörg Neugebauer | 81 | 491 | 30909 |
Hubert Vaudry | 80 | 975 | 34350 |
Michel Baudry | 80 | 372 | 23890 |
Richard L. Stevens | 79 | 264 | 19148 |
Claudine Berr | 75 | 297 | 27919 |
Christian P. Robert | 75 | 535 | 36864 |
Thierry Frebourg | 71 | 307 | 22403 |
Georges Pelletier | 69 | 432 | 19018 |
Michel Vert | 69 | 333 | 17899 |
Jean-Charles Schwartz | 69 | 252 | 15917 |