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Your search keyword '"J F, Prud'homme"' showing total 3 results
3 results on '"J F, Prud'homme"'

1. Association of rheumatoid arthritis with an amino acid allelic variation of the T cell receptor

Author

François Cornelis, J F Prud'homme, Dominique Charron, A Nicod, K Pile, R.M. Flipo, D Kuntz, B P Wordsworth, M N Loste, S Walsh, T H Tran, P.M. Danzé, A Delaye, J Weissenbach, Thomas Bardin, S. Djoulah, L Hardwick, K Gibson, Maria Martinez, Virginia Lepage, Frédéric Lioté, and Sandra Lasbleiz

Subjects
Genotype, Receptors, Antigen, T-Cell, alpha-beta, Immunology, Biology, Arthritis, Rheumatoid, Rheumatology, Genetic variation, medicine, Immunology and Allergy, Humans, Pharmacology (medical), Genetic Predisposition to Disease, Allele, Alleles, Polymorphism, Single-Stranded Conformational, Case-control study, Genetic Variation, Single-strand conformation polymorphism, Odds ratio, medicine.disease, Rheumatoid arthritis, Case-Control Studies, Female, Restriction fragment length polymorphism
Abstract

Objective. To investigate allelic variations of T cell receptor residues for a contribution to rheumatoid arthritis (RA) susceptibility. Methods. We conducted an RA case-control study involving 1,579 northwest Europeans: 766 patients with erosive and rheumatoid factor-positive disease and 813 control subjects. Productive changes of segments TCRAV6S1, TCRAV7S1, TCRAV8S1, TCRAV10S2, and TCRBV6S1, TCRBV6S7 were investigated by single-strand conformation polymorphisms. The TCRAV8S1 association was confirmed by restriction fragment length polymorphism. Results. In the systematic study (77 patients and 119 controls), an increase in 1 TCRAV8S1 genotype was found in the RA patients (P = 0.0004). This finding was replicated in 2 further populations, one from France (212 patients and 254 controls) and the other from Britain (477 patients and 440 controls), with a similar odds ratio (OR), which allowed pooling of the data and confirmation of the association (OR 1.3 [95% confidence interval 1.1-1.7], P = 0.008). Conclusion. These findings show evidence that TCRA is an RA susceptibility locus.

Published
1997

2. Rheumatoid arthritis association with alleles of T-cell receptor α chain is influenced by HLA

Author

F. Liote, P.M. Danzé, R.M. Flippo, T H Tran, J F Prud'homme, K. Dzanouni, H. Zouali, I. Fajardy, Dominique Charron, D. Kuntz, M.N. Loste, Bardin T, J Weissenbach, P. Froguel, A Delaye, F. Cornélis, F. Didailler-Lambert, and Virginia Lepage

Subjects
Rheumatoid arthritis, Immunology, T-cell receptor, medicine, Immunology and Allergy, General Medicine, Human leukocyte antigen, Allele, Biology, medicine.disease
Published
1996
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3. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

Author

N, Fonknechten, D, Mavel, P, Byrne, C S, Davoine, C, Cruaud, D, Bönsch, D, Boentsch, D, Samson, P, Coutinho, M, Hutchinson, P, McMonagle, J M, Burgunder, A, Tartaglione, O, Heinzlef, I, Feki, T, Deufel, N, Parfrey, A, Brice, B, Fontaine, J F, Prud'homme, J, Weissenbach, A, Dürr, and J, Hazan

Subjects
Adult, Spastin, Adolescent, Genotype, Hereditary spastic paraplegia, RNA Splicing, Molecular Sequence Data, Mutation, Missense, Locus (genetics), Biology, medicine, Genetics, Missense mutation, Humans, Child, Gene, Molecular Biology, Genetics (clinical), Microtubule severing, Aged, Genes, Dominant, Adenosine Triphosphatases, Paraplegia, Polymorphism, Genetic, Genetic heterogeneity, General Medicine, Middle Aged, medicine.disease, Phenotype, Codon, Nonsense, Mutation, Asymptomatic carrier
Abstract

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a group of genetically heterogeneous neurodegenerative disorders characterized by pro- gressive spasticity of the lower limbs. Five AD-HSP loci have been mapped to chromosomes 14q, 2p, 15q, 8q and 12q. The SPG4 locus at 2p21-p22 has been shown to account for approximately 40% of all AD-HSP families. SPG4 encoding spastin, a putative nuclear AAA protein, has recently been identified. Here, sequence analysis of the 17 exons of SPG4 in 87 unrelated AD-HSP patients has resulted in the detection of 34 novel mutations. These SPG4 mutations are scattered along the coding region of the gene and include all types of DNA modification including missense (28%), nonsense (15%) and splice site point (26.5%) mutations as well as deletions (23%) and insertions (7.5%). The clinical analysis of the 238 mutation carriers revealed a high proportion of both asymptomatic carriers (14/238) and patients unaware of symptoms (45/238), and permitted the redefinition of this frequent form of AD-HSP.

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