Zobrazeno 1 - 10
of 54
pro vyhledávání: '"A. Saunières"'
Autor:
Perucca-Lostanlen, D. *, Taylor, R.W., Narbonne, H., Mousson de Camaret, B., Hayes, C.M., Saunieres, A., Paquis-Flucklinger, V., Turnbull, D.M., Vialettes, B., Desnuelle, C.
Publikováno v:
In BBA - Molecular Basis of Disease 2002 1588(3):210-216
Autor:
D. Perucca-Lostanlen, Véronique Paquis-Flucklinger, Claude Desnuelle, H. Narbonne, B. Vialettes, Pascal Staccini, A. Saunières, J.B. Hernandez
Publikováno v:
Biochemical and Biophysical Research Communications. 277:771-775
Mitochondrial DNA (mtDNA) variants have been implicated in the pathogenesis of diabetes. A mutation in the tRNA leucine gene at position 3243 has been previously reported in mtDNA of maternally inherited diabetes and deafness (MIDD) patients. Because
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7380ae286bdb21b15513d85d576503a
https://doi.org/10.1006/bbrc.2000.3751
https://doi.org/10.1006/bbrc.2000.3751
Autor:
R. Paul, Jean Pouget, C Butori, A. Saunières, Christian Richelme, Jean-François Pellissier, Véronique Paquis-Flucklinger, M. F. Monfort, Claude Desnuelle
Publikováno v:
European Journal of Human Genetics. 8:331-338
Multiple mitochondrial DNA (mtDNA) deletions have been reported in patients with autosomal dominant and recessive disorders. We studied several affected and one non-affected individuals belonging to a pedigree in which the inheritance of the patholog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d23bc38dc5c4560f70c576bac3218b
https://doi.org/10.1038/sj.ejhg.5200463
https://doi.org/10.1038/sj.ejhg.5200463
Autor:
A. Saunières, J. Camboulives, V. Paquis-Flucklinger, M. F. Monfort, Claude Desnuelle, B. Chabrol, H. Giudicelli, F. Pellissier
Publikováno v:
European Journal of Pediatrics. 154:557-562
We studied a 3-month-old girl who was admitted to hospital because of respiratory distress. The clinical course was characterized by a rapidly progressive generalized hypotonia with lactic acidosis and she died at 4 months of age. A muscle biopsy sho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a78bcec5d01f2314e1560f2a1c7eeb03
https://doi.org/10.1007/bf02074834
https://doi.org/10.1007/bf02074834
Autor:
Douglass M. Turnbull, A. Saunières, B. Mousson de Camaret, Véronique Paquis-Flucklinger, B. Vialettes, Claude Desnuelle, H. Narbonne, D. Perucca-Lostanlen, Robert W. Taylor, C Hayes
Publikováno v:
Biochimica et biophysica acta. 1588(3)
A heteroplasmic T to C transition at nucleotide position 14709 in the mitochondrial tRNA glutamic acid (tRNA(Glu)) gene has previously been associated with maternally inherited diabetes and deafness (MIDD). To investigate the pathogenic mechanism of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93d57488e5e143ad1c6b4ea6a8969579
https://pubmed.ncbi.nlm.nih.gov/12393175
https://pubmed.ncbi.nlm.nih.gov/12393175
Autor:
Patrick Gaudray, Sophie Neyton, Françoise Lespinasse, Véronique Paquis-Flucklinger, Sabine Santucci-Darmanin, Anne Saunières
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2002, 11 (15), pp.1697-1706. ⟨10.1093/hmg/11.15.1697⟩
Human Molecular Genetics, Oxford University Press (OUP), 2002, 11 (15), pp.1697-1706. ⟨10.1093/hmg/11.15.1697⟩
International audience; The mismatch-repair (MMR) system plays a central role in maintaining genetic stability and requires evolutionarily conserved protein factors, including MutS and MutL homologs. Since the discovery of a link between the malfunct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cc6b63b972b5b31a1a08d3f8b18b68d
https://pubmed.ncbi.nlm.nih.gov/12095912
https://pubmed.ncbi.nlm.nih.gov/12095912
Autor:
Sabine Santucci-Darmanin, A. Saunières, R. Paul, Claude Desnuelle, J.F. Michiels, Véronique Paquis-Flucklinger
Publikováno v:
Mammalian Genome
Mammalian Genome, Springer Verlag, 1999, 10 (4), pp.423-427. ⟨10.1007/s003359901016⟩
Mammalian Genome, Springer Verlag, 1999, 10 (4), pp.423-427. ⟨10.1007/s003359901016⟩
The Escherichia coli MutHLS mismatch repair pathway has been conserved throughout evolution. A large body of work has led to study of the respective roles of eukaryotic MSH and MLH genes in somatic DNA repair (Fishel and Wilson 1997). If it is now cl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e46c41df0ccc30e83b6af3372e671c7
https://hal.archives-ouvertes.fr/hal-03440062
https://hal.archives-ouvertes.fr/hal-03440062
Autor:
Sabine Santucci-Darmanin, A. Saunières, Véronique Paquis-Flucklinger, R. Paul, Claude Desnuelle, Claude Turc-Carel
Publikováno v:
Genomics
Genomics, Elsevier, 1997, 44 (2), pp.188-194. ⟨10.1006/geno.1997.4857⟩
Genomics, Elsevier, 1997, 44 (2), pp.188-194. ⟨10.1006/geno.1997.4857⟩
The Escherichia coli MutHLS system has been highly conserved throughout evolution. The eukaryotic pathway results in a specialization of MutS homologs that have evolved to play crucial roles in both DNA mismatch repair and meiotic recombination. So f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a44bcfb9349354f99fd70a5a07c41ce0
https://pubmed.ncbi.nlm.nih.gov/9299235
https://pubmed.ncbi.nlm.nih.gov/9299235
Autor:
V, Paquis-Flucklinger, B, Vialettes, B, Canivet, P, Freychet, S, Hieronimus, P, Vague, A, Saunières, C, Desnuelle
Publikováno v:
Journees annuelles de diabetologie de l'Hotel-Dieu.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1c526d4552745840c0f597bd52b4791b
https://pubmed.ncbi.nlm.nih.gov/9296981
https://pubmed.ncbi.nlm.nih.gov/9296981
Publikováno v:
Trends in Genetics
Trends in Genetics, Elsevier, 1996, 12 (4), pp.131-2
Trends in Genetics, Elsevier, 1996, 12 (4), pp.131-2
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::317c060b2d90a0419b101376ae0024cb
https://hal.archives-ouvertes.fr/hal-03440092
https://hal.archives-ouvertes.fr/hal-03440092