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2. Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns.

Author

Cherqui, S, Kalatzis, V, Forestier, L, Poras, I, and Antignac, C

Subjects
Bioinformatics, Biological Sciences, Medical and Health Sciences, Information and Computing Sciences
Abstract

BackgroundCystinosis is an autosomal recessive disorder characterised by an intralysosomal accumulation of cystine, and affected individuals progress to end-stage renal failure before the age of ten. The causative gene, CTNS, was cloned in 1998 and the encoded protein, cystinosin, was predicted to be a lysosomal membrane protein.ResultsWe have cloned the murine homologue of CTNS, Ctns, and the encoded amino acid sequence is 92.6% similar to cystinosin. We localised Ctns to mouse chromosome 11 in a region syntenic to human chromosome 17 containing CTNS. Ctns is widely expressed in all tissues tested with the exception of skeletal muscle, in contrast to CTNS.ConclusionsWe have isolated, characterised and localised Ctns, the murine homologue of CTNS underlying cystinosis. Furthermore, our work has brought to light the existence of a differential pattern of expression between the human and murine homologues, providing critical information for the generation of a mouse model for cystinosis.

Published
2000

10. Introduction. Approches d'un genre hybride, le film sur l'art

Author

Robert, V. (ed.), Le Forestier, L. (ed.), Albera, F. (ed.), Albera, F., Le Forestier, L., Robert, V., Imesch, K., Lüscher, M., Robert, V. (ed.), Le Forestier, L. (ed.), Albera, F. (ed.), Albera, F., Le Forestier, L., Robert, V., Imesch, K., and Lüscher, M.

Abstract

Introduction dressant un bilan tout à la fois historique, théorique et bibliographique sur la question du film sur l'art et ses relations avec l'histoire de l'art.

Published
2015

11. Introduction. Approches d'un genre hybride, le film sur l'art

Author

Albera, F., Le Forestier, L., Robert, V., Imesch, K., Lüscher, M., Robert, V. (ed.), Le Forestier, L. (ed.), and Albera, F. (ed.)

Subjects
film sur l'art, cinéma, art, théorie, histoire, critique, bilan bibliographique, genre
Abstract

Introduction dressant un bilan tout à la fois historique, théorique et bibliographique sur la question du film sur l'art et ses relations avec l'histoire de l'art.

Published
2015

12. Identification of the causative mutation of the black non-agouti coat colour phenotype in the domestic rabbit (Oryctolagus cuniculus)

Author

FONTANESI, Luca, FORESTIER, L., Allain, Daniel, Deretz, Severine, Tazzoli, M., Scotti, E., BERETTI, F., Russo, V., Oulmouden, Ahmad, Fontanesi L., Forestier L., Allain D., Deretz S., Tazzoli M., Scotti E., Beretti F., Russo V., Oulmouden A., ProdInra, Migration, Génétique Expérimentale en Productions Animales (GEPA), and Institut National de la Recherche Agronomique (INRA)

Subjects
[SDV] Life Sciences [q-bio], COAT COLOUR, RABBIT, [SDV]Life Sciences [q-bio], BLACK, NOIR, COULEUR DE ROBE, AGOUTI, RABBITS, MUTATION
Published
2009

14. Post-transcriptional regulation of polymorphic protease-activated receptor-2 (par-2) gene displaying correlation with skin pigmentation in cattle

Author

Nizamani, A. W., Fumière, O., Forestier, L., Presciuttini, S., Leveziel, H., Nizamani, Z. A., oulmouden Ahmad, Department of Animal Breeding and Genetics, Sindh Agricultural University, Unité de Génétique Moléculaire Animale (UGMA), Université de Limoges (UNILIM)-Institut National de la Recherche Agronomique (INRA), Département Qualité des productions agricoles, Centre Wallon de Recherches Agronomiques (CRA-W), Dipartimento di Scienze Fisiologiche, Department of Veterinary Pathology, European Union [FOOD-CT-2005-006942], University of Limoges, INRA (Institut national de la recherche agronomique), Unité de Génétique Moléculaire Animale (UMR GMA), Institut National de la Recherche Agronomique (INRA)-Université de Limoges (UNILIM), and ProdInra, Archive Ouverte

Subjects
[SDV] Life Sciences [q-bio], integumentary system, [SDV]Life Sciences [q-bio], PAR-2
Abstract

Protease-activated receptor-2 (PAR-2) is a trypsin-activated member of the PAR receptor family. Following cleavage, the newly created N-terminus acts as a tethered receptor-activating ligand. PAR-2 is expressed in keratinocytes and enhances the phagocytosis rate of keratinocytes, which leads to increased melanosome transfer and skin pigmentation. Here, we investigated to see whether the bovine bPAR-2 plays a role in pigmentation of cattle skins resulting in shades ranging from dark-black to white. We have identifiedtwo bPAR-2natural variants located in the tethered ligand for the first time. Surprisingly, none of these seems to affect the receptor activity in relation to skin pigmentation as suggested by tethered ligand structure-activity relationships studies. Furthermore, we also showed for the first timethatbPAR-2is regulated at a post-transcriptional level in pigmentation-skin dependent manner. Modulation of PAR-2 activity enhances or decreases melanosome transfer from melanocytes to keratinocytes which results in a variation in skin pigmentation. In this study, we found that bPAR-2 was subjected to post-transcriptional regulation in pigmentation-skin dependent manner and that two variants affecting its tethered ligand did not affect skin pigmentation. Understanding the regulation of PAR-2 expression and the activity of its tethered ligand is important, because PAR-2 is involved in a key step of skin pigmentation and plays a role in lightening or darkening of the skin.

Published
2014

18. Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus

Author

Vargas-Poussou R, Forestier L, Md, Dautzenberg, Niaudet P, Déchaux M, and Corinne ANTIGNAC

Subjects
Adult, Male, Receptors, Vasopressin, X Chromosome, Genotype, DNA Mutational Analysis, Diabetes Insipidus, Nephrogenic, Aquaporins, Polymerase Chain Reaction, Ion Channels, Consanguinity, Genetic Heterogeneity, Humans, Point Mutation, Deamino Arginine Vasopressin, Kidney Tubules, Collecting, Child, Frameshift Mutation, Polymorphism, Single-Stranded Conformational, Sequence Deletion, Aquaporin 2, Chromosomes, Human, Pair 12, urogenital system, Osmolar Concentration, Sequence Analysis, DNA, General Medicine, Aquaporin 6, Pedigree, Genes, Nephrology, Female
Abstract

Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by renal tubular insensitivity to the antidiuretic effect of arginine vasopressin (AVP). In a large majority of the cases, nephrogenic diabetes insipidus is an X-linked recessive disorder caused by mutations in the AVP V2 receptor gene (AVPR2). In the remaining cases, the disease is autosomal recessive or dominant and, for these patients, mutations in the aquaporin 2 gene (AQP2) have been reported. Fourteen probands belonging to 12 families were analyzed by single-strand conformational polymorphism and direct sequencing of the AVPR2 and AQP2 genes. Ten mutations of the AVPR2 gene (six previously reported mutations and four novel mutations: G107E, W193X, L43P, and 15delC) were identified. Three mutations of the AQP2 gene were also identified in two patients: the first patient is homozygous for the R85X mutation and the second is a compound heterozygote for V168 M and S216P mutations. Extrarenal responses to infusion of the strong V2 agonist 1-desamino-8-D-arginine vasopressin allowed AVPR2- and AQP2-associated forms of CNDI to be distinguished in three patients. This test also identified an unexpectedly high urinary osmolality (614 mosmol/kg) in a patient with a P322S mutation of AVPR2 gene and a mild form of CNDI.

Published
1997
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19. The short range order of ions in clay minerals: Sm3+ coordination

Author

Sobolev, O., Cuello, G. J., Scheinost, A. C., Johnson, M. R., Nikitenko, S., Le Forestier, L., Brendle, J., and Charlet, L.

Subjects
EXAFS, neutron, Lanthanide, clay, simulation
Abstract

Experimental techniques as neutron diffraction with isotopic substitution, extended X-ray absorption fine structure spectroscopy and quasielastic neutron scattering, in combination with molecular dynamics simulations, are usually applied to the study of non-crystalline solids, but they are also very useful for the study of complex systems, where the short range order provides an insight of its structure and dynamics. Here they are used in the study of the coordination of the Sm3+ in the interlayer of hydrated synthetic montmorillonite and hectorite. The neutron diffraction results indicate that not all O atoms in the first coordination shell of the Sm3+ belong to water molecules, supporting the formation of the Sm3+ innersphere complex. On the other hand, the other techniques suggest that the adsorbed Sm3+ cations form outersphere complexes with the clay surface. The hypothesis making compatible all results is that there are different Sm species adsorbed in the clay interlayer: a part of Sm is in the Sm3+ cationic form, forming outer-sphere adsorption complexes, another part is hydrolyzed and present in the interlayer space as Sm(OH)2+, Sm(OH)+ 2 or Sm(OH)03 species. The latter are more hydrophobic than Sm3+ cations and can be dehydrated and are able to stick to the clay surface.

Published
2011

20. Comparison of glyco-gene expression according to differentiation stage in glioblastoma cell lines

Author

Cheray, M., Gallet, F., Petit, Daniel, Forestier, L., Jauberteau, M.O., Battu, S., Lalloué, F., Unité de Génétique Moléculaire Animale (UMR GMA), Institut National de la Recherche Agronomique (INRA)-Université de Limoges (UNILIM), and ProdInra, Migration

Subjects
[SDV] Life Sciences [q-bio], GENE EXPRESSION, GLYCOSYLATION, [SDV]Life Sciences [q-bio], EXPRESSION DE GENES
Published
2009

21. Modulation des gènes responsables de l'apprêtement des peptides du MHC classe 1 et de l'angiogénèse : effet respectifs de l'allo et de l'autogreffe

Author

MANGUY, E., FORESTIER, L., Doucet, C., DESURMONT, T., Goujon, J.M., Hauet, T., RENARD, Christine, Génétique Expérimentale en Productions Animales (GEPA), Institut National de la Recherche Agronomique (INRA), and ProdInra, Migration

Subjects
[SDV] Life Sciences [q-bio], KIDNEY, [SDV]Life Sciences [q-bio], PIGS, SURGEON
Published
2007

22. Identification de gènes candidats et des mécanismes responsables de l'hypertrophie musculaire dans la race ovine Texel Belge

Author

Milenkovic, Dragan, Amarger, Valérie, FORESTIER, L., Gillard, M., Maftah, Abderrahman, Levéziel, Hubert, Laville, Elisabeth, Hamelin, M., Bouix, Jacques, Bibé, Bernard, Georges, M., Clop, A., Unité de Génétique Moléculaire Animale (UMR GMA), Institut National de la Recherche Agronomique (INRA)-Université de Limoges (UNILIM), and ProdInra, Migration

Subjects
[SDV] Life Sciences [q-bio], SHEEP, [SDV]Life Sciences [q-bio], MUSCULAR HYPERTROPHY, ComputingMilieux_MISCELLANEOUS
Abstract

National audience

Published
2006

23. Glycosylation-related gene expression in prion diseases. PrPSc accumulation in scrapie-infected GT1 cells depends on beta1,4-linked GalNAc-4-SO4 hyposulfation

Author

BARRET, A., FORESTIER, L., DESLYS, J.P., JULIEN, Raymond, GALLET, Paul-François, Unité de Génétique Moléculaire Animale (UMR GMA), Institut National de la Recherche Agronomique (INRA)-Université de Limoges (UNILIM), Unité de Génétique Moléculaire Animale (UGMA), and Université de Limoges (UNILIM)-Institut National de la Recherche Agronomique (INRA)

Subjects
maladie à prion, GLYCOSYLATION, PRION DISEASE, [SDV]Life Sciences [q-bio]
Abstract

absent

Published
2005

24. Glycogenome expression and prion diseases: new targets for therapy?

Author

Barret, Aurélie, Gallet, Paul-François, Forestier, L., Jayat-Vignoles, C., Julien, Raymond, Deslys, J.P., Unité de Génétique Moléculaire Animale (UMR GMA), Institut National de la Recherche Agronomique (INRA)-Université de Limoges (UNILIM), and ProdInra, Migration

Subjects
[SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio]
Published
2004

27. Gene expression Patterns in Scrapie. Quantitative alterations of splenic non-golgian protein isoforms related to alpha-2,3-sialyltransferase V (ganglioside synthase) gene

Author

Guillerme, Florence, FORESTIER, L., JAYAT-VIGNOLES, C., Vilotte, Jean Luc, Laude, Hubert, JULIEN, Raymond, Gallet, Paul-François, Unité de Génétique Moléculaire Animale (UMR GMA), Institut National de la Recherche Agronomique (INRA)-Université de Limoges (UNILIM), Unité de recherche Génétique Biochimique et Cytogénétique (LGBC), Institut National de la Recherche Agronomique (INRA), and ProdInra, Migration

Subjects
[SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio]
Published
2004

28. Expression des gènes de la glycosylation dans les maladies à prions

Author

Gallet, Paul-François, Guillerme, Florence, BARRET, Aurélie, FORESTIER, L., JULIEN, Raymond, ProdInra, Migration, Unité de Génétique Moléculaire Animale (UMR GMA), and Institut National de la Recherche Agronomique (INRA)-Université de Limoges (UNILIM)

Subjects
[SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio]
Published
2004

30. Analyse de l'expression des gènes de la glycosylation dans un modèle de souris transgéniques sensibles à l'agent de la tremblante du mouton

Author

Guillerme, Florence, FORESTIER, L., JAYAT-VIGNOLES, C., Vilotte, Jean Luc, Besnard, N., Le Dur, Annick, Laude, Hubert, JULIEN, Raymond, Gallet, Paul-François, Unité de Génétique Moléculaire Animale (UMR GMA), Institut National de la Recherche Agronomique (INRA)-Université de Limoges (UNILIM), Unité de recherche Génétique Biochimique et Cytogénétique (LGBC), Institut National de la Recherche Agronomique (INRA), and ProdInra, Migration

Subjects
[SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio]
Published
2004

31. Glycogenome expression changes in prion infected cells and after treatment by heparan mimetics

Author

Barret, Aurélie, Gallet, Paul-François, Simoneau, S., Forestier, L., Jayat-Vignoles, C., Larramendy, C., Papy-Garcia, D., Barritault, D., Julien, Raymond, Deslys, J.P., Unité de Génétique Moléculaire Animale (UMR GMA), Institut National de la Recherche Agronomique (INRA)-Université de Limoges (UNILIM), and ProdInra, Migration

Subjects
[SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio]
Published
2003

32. Analysis of glycosylation gene expression in a model of scrapie-infected mice

Author

Guillerme, Florence, Vilotte, Jean-Luc, Forestier, L., Jayat-Vignoles, C., Besnard, N., Le Dur, Annick, Laude, Hubert, Julien, Raymond, Gallet, Paul-François, Unité de Génétique Moléculaire Animale (UMR GMA), Institut National de la Recherche Agronomique (INRA)-Université de Limoges (UNILIM), Unité de recherche Génétique Biochimique et Cytogénétique (LGBC), Institut National de la Recherche Agronomique (INRA), and ProdInra, Migration

Subjects
[SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio]
Published
2003

33. DNA micro-array analysis of glycosylation changes during prion infection evidenced a major role for GlcNAc transfer and glycosaminoglycans synthesis

Author

Gallet, Paul-François, FORESTIER, L., Guillerme, Florence, BARRET, Aurélie, JAYAT-VIGNOLES, C., LIA-BALDINI, Anne-Sophie, VILOTTE, J.L., DESLYS, J.P., Laude, Hubert, JULIEN, Raymond, Unité de Génétique Moléculaire Animale (UMR GMA), Institut National de la Recherche Agronomique (INRA)-Université de Limoges (UNILIM), and ProdInra, Migration

Subjects
[SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio]
Published
2002

34. Changes in the brain glycotranscriptome of ovine PrP transgenic mice at various TSE incubation times

Author

Guillerme, Florence, Vilotte, Jean Luc, FORESTIER, L., JAYAT-VIGNOLES, C., Besnard, N., Le Dur, Annick, LIA-BALDINI, Anne-Sophie, Laude, Hubert, JULIEN, Raymond, Gallet, Paul-François, Unité de recherche Génétique Biochimique et Cytogénétique (LGBC), Institut National de la Recherche Agronomique (INRA), Unité de Génétique Moléculaire Animale (UMR GMA), Institut National de la Recherche Agronomique (INRA)-Université de Limoges (UNILIM), and ProdInra, Migration

Subjects
[SDV] Life Sciences [q-bio], MICE, [SDV]Life Sciences [q-bio], PRION, TRANSGENESIS, GLYCOTRANSCRIPTOME
Published
2002

35. Glycosylation dedicated microarray used with a new strategy to detect mutations in congenital disorders of Glycosylation

Author

Lia-Baldini, Anne-Sophie, Estampes-Barthelemy, A., Forestier, L., Jayat-Vignoles, C., Gallet, Paul-François, Julien, Raymond, Unité de Génétique Moléculaire Animale (UMR GMA), Institut National de la Recherche Agronomique (INRA)-Université de Limoges (UNILIM), and ProdInra, Migration

Subjects
[SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio]
Published
2002

36. The short range order of ions in clay minerals: Sm3+ coordination

Author

Sobolev, O., Cuello, G. J., Scheinost, A. C., Johnson, M. R., Nikitenko, S., Le Forestier, L., Brendle, J., Charlet, L., Sobolev, O., Cuello, G. J., Scheinost, A. C., Johnson, M. R., Nikitenko, S., Le Forestier, L., Brendle, J., and Charlet, L.

Abstract

Experimental techniques as neutron diffraction with isotopic substitution, extended X-ray absorption fine structure spectroscopy and quasielastic neutron scattering, in combination with molecular dynamics simulations, are usually applied to the study of non-crystalline solids, but they are also very useful for the study of complex systems, where the short range order provides an insight of its structure and dynamics. Here they are used in the study of the coordination of the Sm3+ in the interlayer of hydrated synthetic montmorillonite and hectorite. The neutron diffraction results indicate that not all O atoms in the first coordination shell of the Sm3+ belong to water molecules, supporting the formation of the Sm3+ innersphere complex. On the other hand, the other techniques suggest that the adsorbed Sm3+ cations form outersphere complexes with the clay surface. The hypothesis making compatible all results is that there are different Sm species adsorbed in the clay interlayer: a part of Sm is in the Sm3+ cationic form, forming outer-sphere adsorption complexes, another part is hydrolyzed and present in the interlayer space as Sm(OH)2+, Sm(OH)+ 2 or Sm(OH)03 species. The latter are more hydrophobic than Sm3+ cations and can be dehydrated and are able to stick to the clay surface.

Published
2010

47. POST-TRANSCRIPTIONAL REGULATION OF POLYMORPHIC PROTEASEACTIVATED RECEPTOR-2 (PAR-2) GENE DISPLAYING CORRELATION WITH SKIN PIGMENTATION IN CATTLE.

Author

Nizamani, A. W., Fumière, O., Forestier, L., Presciuttini, S., Leveziel, H., Nizamani, Z. A., and Oulmouden, A.

Subjects
CATTLE color, PROTEASE-activated receptors, GENETIC transcription regulation, MELANOCYTES, KERATINOCYTES, GENE expression, GENETIC polymorphisms, CATTLE
Abstract

Protease-activated receptor-2 (PAR-2) is a trypsin-activated member of the PAR receptor family. Following cleavage, the newly created N-terminus acts as a tethered receptor-activating ligand.PAR-2 is expressed in keratinocytes and enhances the phagocytosis rate of keratinocytes, which leads to increased melanosome transfer and skin pigmentation. Here, we investigated to see whether the bovine bPAR-2 plays a role in pigmentation of cattle skins resulting in shades ranging from dark-black to white. We have identifiedtwo bPAR-2natural variants located in the tethered ligand for the first time. Surprisingly, none of these seems to affect the receptor activity in relation to skin pigmentation as suggested by tethered ligand structure-activity relationships studies. Furthermore, we also showed for the first timethatbPAR-2is regulated at a post-transcriptional level in pigmentation-skin dependent manner. Modulation of PAR-2 activity enhances or decreases melanosome transfer from melanocytes to keratinocytes which results in a variation in skin pigmentation. In this study, we found that bPAR-2 was subjected to post-transcriptional regulation in pigmentation-skin dependent manner and that two variants affecting its tethered ligand did not affect skin pigmentation. Understanding the regulation of PAR-2 expression and the activity of its tethered ligand is important, because PAR-2 is involved in a key step of skin pigmentation and plays a role in lightening or darkening of the skin. [ABSTRACT FROM AUTHOR]

Published
2014

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