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1.
Tmevpg1, a candidate gene for the control of Theiler's virus persistence,could be implicated in the regulation of gamma interferon
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The Tmevp3 locus controls the load of Theiler's virus RNA during persistent infection of the mouse central nervous system (CNS). We identified a candidate gene at this locus, Tmevpg1, by using a positional cloning approach. Tmevpg1 and its human ortholog, TMEVPG1, are expressed in the immune system and encode what appears to be a noncoding RNA. They are located in a cluster of cytokine genes that includes the genes for gamma interferon and one or two homolog of interleukin-10. We now report that Tmevpg1 is expressed in CNS-infiltrating immune cells of resistant B10.S mice, but not in those of susceptible SJL/J mice, following inoculation with Theiler's virus. The pattern of expression of Tmevpg1 is the same in B10.S mice and in SJL/J mice congenic for the resistant B10.S haplotype of Tmevp3. Nineteen polymorphisms were identified when the Tmevpg1 genes of B10.S and SJL/J mice were compared. Interestingly, Tmevpg1 is down regulated after in vitro stimulation of murine CD4(+) or CD8(+) splenocytes, whereas Ifng is up regulated. Similar patterns of expression of TMEVPG1 and IFNG were observed in human NK cells and CD4(+) and CD8(+) T lymphocytes. Therefore, Tmevpg1 is a strong candidate gene for the Tmevp3 locus and may be involved in the control of Ifng gene expression. 相似文献
2.
Mariem Ben Khelifa Charles Coutton Raoudha Zouari Thomas Karaouzène John Rendu Marie Bidart Sandra Yassine Virginie Pierre Julie Delaroche Sylviane Hennebicq Didier Grunwald Denise Escalier Karine Pernet-Gallay Pierre-Simon Jouk Nicolas Thierry-Mieg Aminata Touré Christophe Arnoult Pierre F. Ray 《American journal of human genetics》2014
3.
Martin P Parroche P Pajot A Chatel L Barreto C Touat L Dubois V Rohrlich PS Bain C Trépo C Negro F Inchauspé G Fournillier A 《Microbes and infection / Institut Pasteur》2006,8(9-10):2432-2441
Broad immune responses, in particular specific for the NS3 protein and mediated by both CD8+ and CD4+T lymphocytes, are thought to play a critical role in the control of hepatitis C virus (HCV) infection. In this study, we searched for novel HLA-B*0702 NS3 restricted epitopes following an optimized NS3NS4 immunization protocol in transgenic mice expressing HLA-B*0702 molecule. Combining predicted and overlapping peptides, we identified two novel epitopes, WPA10 (aa 1111-1120) and LSP10 (aa 1153-1162), which triggered significant IFN-gamma-producing T cell frequencies and high CTL responses. Both epitopes were shown to be immunogenic when used as synthetic peptides to immunize mice. The relevance of these epitopes to humans was demonstrated, as both were able in vitro to recall specific IFN-gamma and IL10-producing cells from peripheral blood mononuclear cells of HCV infected patients. Such epitopes enlarge the pool of NS3-specific CD8+T cell epitopes available to perform immunomonitoring of HCV infection and to develop vaccines. 相似文献
4.
Clinico‐molecular analysis of eleven patients with Hermansky–Pudlak type 5 syndrome,a mild form of HPS
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Vincent Michaud Eulalie Lasseaux Claudio Plaisant Alain Verloes Yaumara Perdomo‐Trujillo Christian Hamel Nursel H. Elcioglu Bart Leroy Josseline Kaplan Pierre‐Simon Jouk Didier Lacombe Patricia Fergelot Fanny Morice‐Picard Benoit Arveiler 《Pigment cell & melanoma research》2017,30(6):563-570
Hermansky–Pudlak syndrome (HPS), first described in 1959, is a rare form of syndromic oculocutaneous albinism associated with bleeding diathesis and in some cases pulmonary fibrosis and granulomatous colitis. All 10 HPS types are caused by defects in vesicle trafficking of lysosome‐related organelles (LRO) proteins. The HPS5 protein associates with HPS3 and HPS6 to form the biogenesis of lysosome‐related organelles complex‐2 (BLOC‐2). Here, we report the clinical and genetic data of 11 patients with HPS‐5 analyzed in our laboratory. We report 11 new pathogenic variants. The 11 patients present with ocular features that are typical for albinism, with mild hypopigmentation, and with no other major complication, apart from a tendency to bleed. HPS‐5 therefore appears as a mild form of HPS, which is often clinically undistinguishable from mild oculocutaneous or ocular forms of albinism. Molecular analysis is therefore required to establish the diagnosis of this mild HPS form, which has consequences in terms of prognosis and of clinical management of the patients. 相似文献
5.
Boyden ED Campos-Xavier AB Kalamajski S Cameron TL Suarez P Tanackovic G Tanackovich G Andria G Ballhausen D Briggs MD Hartley C Cohn DH Davidson HR Hall C Ikegawa S Jouk PS König R Megarbané A Nishimura G Lachman RS Mortier G Rimoin DL Rogers RC Rossi M Sawada H Scott R Unger S Valadares ER Bateman JF Warman ML Superti-Furga A Bonafé L 《American journal of human genetics》2011,(6):767-772
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (lepto-SEMDJL, aka SEMDJL, Hall type), is an autosomal dominant skeletal disorder that, in spite of being relatively common among skeletal dysplasias, has eluded molecular elucidation so far. We used whole-exome sequencing of five unrelated individuals with lepto-SEMDJL to identify mutations in KIF22 as the cause of this skeletal condition. Missense mutations affecting one of two adjacent amino acids in the motor domain of KIF22 were present in 20 familial cases from eight families and in 12 other sporadic cases. The skeletal and connective tissue phenotype produced by these specific mutations point to functions of KIF22 beyond those previously ascribed functions involving chromosome segregation. Although we have found Kif22 to be strongly upregulated at the growth plate, the precise pathogenetic mechanisms remain to be elucidated. 相似文献
6.
M. Kieny A. -M. Boutineau M. P. Pautou P. S. Jouk 《Development genes and evolution》1988,197(1):49-55
Summary Muscular dysgenesis in trunk and limb regions of the crooked neck dwarf (cn/cn) fowl is characterized by a complete disorganization of the muscles, starting at 7.5 days of incubation and resulting, at the end of the incubation period, in a profound muscular atrophy. It has previously been attributed to progressively extending defects of the myotubes. In this paper, embryonic cn/cn head and neck muscles were subjected to histological and ultrastructural analysis. The mononucleated myoblasts of the skeletal muscles are not diseased. Pathology is only expressed in the multinucleated cells, mainly by impaired sarcomerogenesis and distension of the sarcoplasmic reticulum. In the non-skeletal (cardiac or smooth) muscles, the connective tissue scaffolding and the ultrastructural features are similar to those of normal muscles at the same age. The present report confirms that the cn defect is confined to the skeletal muscle cells. All of them belong to the same lineage, which is contained in the somitic mesoderm, whether the latter becomes segmented or not during embryogenesis. 相似文献
7.
Jacques Ohayon Hongxue Cai Pierre-Simon Jouk Yves Usson Annabelle Azancot 《Computer methods in biomechanics and biomedical engineering》2013,16(2):113-126
The purpose of this research is to study the growth of the normal human left ventricle (LV) during the fetal period from 14 to 40 weeks of gestation. A new constitutive law for the active myocardium describing the mechanical properties of the active muscle during the whole cardiac cycle has been proposed. The LV model is a thick-walled, incompressible, hyperelastic cylinder, with families of helicoidal fibers running on cylindrical surfaces [1] . Based on the works of Lin and Taber [2] done on the embryonic chick heart, we use for the human fetal heart a growth law in which the growth rate depends on the wall stresses. The parameters of the growth law are adapted to agree with sizes and volumes inferred from two dimensional ultrasound measurements performed on 18 human fetuses. Then calculations are performed to extrapolate the cardiac performance during normal growth of the fetal LV. The results presented support the idea that a growth law in which the growth rate depends linearly on the mean wall stresses averaged through the space and during whole cardiac cycle, is adapted to the normal human fetal LV development. 相似文献
8.
Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.
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V Satre N Monnier F Berthoin C Ayuso A Joannard P S Jouk I Lopez-Pajares A Megabarne H J Philippe H Plauchu M L Torres J Lunardi 《American journal of human genetics》1999,65(1):68-76
The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. Mutations in the OCRL1 gene have been associated with the disease. OCRL1 encodes a phosphatidylinositol 4, 5-biphosphate (PtdIns[4,5]P2) 5-phosphatase. We have examined the OCRL1 gene in eight unrelated patients with OCRL and have found seven new mutations and one recurrent in-frame deletion. Among the new mutations, two nonsense mutations (R317X and E558X) and three other frameshift mutations caused premature termination of the protein. A missense mutation, R483G, was located in the highly conserved PtdIns(4,5)P2 5-phosphatase domain. Finally, one frameshift mutation, 2799delC, modifies the C-terminal part of OCRL1, with an extension of six amino acids. Altogether, 70% of missense mutations are located in exon 15, and 52% of all mutations cluster in exons 11-15. We also identified two new microsatellite markers for the OCRL1 locus, and we detected a germline mosaicism in one family. This observation has direct implications for genetic counseling of Lowe syndrome families. 相似文献
9.
Eric D. Boyden A. Belinda Campos-Xavier Sebastian Kalamajski Trevor L. Cameron Philippe Suarez Goranka Tanackovic Generoso Andria Diana Ballhausen Michael D. Briggs Claire Hartley Daniel H. Cohn H. Rosemarie Davidson Christine Hall Shiro Ikegawa Pierre-Simon Jouk Rainer König André Megarbané Gen Nishimura Luisa Bonafé 《American journal of human genetics》2012,90(1):170
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