Zobrazeno 1 - 10 of 105 pro vyhledávání: '"Alain Kitzis"'
1
Akademický článek
Involvement of the Cdc42 pathway in CFTR post-translational turnover and in its plasma membrane stability in airway epithelial cells.
Autor: Romain Ferru-Clément, Fleur Fresquet, Caroline Norez, Thierry Métayé, Frédéric Becq, Alain Kitzis, Vincent Thoreau
Publikováno v: PLoS ONE, Vol 10, Iss 3, p e0118943 (2015)
Cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride channel that is expressed on the apical plasma membrane (PM) of epithelial cells. The most common deleterious allele encodes a trafficking-defective mutant protein undergoing en
Externí odkaz: https://doaj.org/article/06e6a49239cf4287802be970c672be44
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2
Akademický článek
Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.
Autor: Ferdos Alaa El Din, Sylvie Patri, Vincent Thoreau, Montserrat Rodriguez-Ballesteros, Eva Hamade, Sabine Bailly, Brigitte Gilbert-Dussardier, Raghida Abou Merhi, Alain Kitzis
Publikováno v: PLoS ONE, Vol 10, Iss 7, p e0132111 (2015)
Hereditary Hemorrhagic Telangiectasia syndrome (HHT) or Rendu-Osler-Weber (ROW) syndrome is an autosomal dominant vascular disorder. Two most common forms of HHT, HHT1 and HHT2, have been linked to mutations in the endoglin (ENG) and activin receptor
Externí odkaz: https://doaj.org/article/396ad9d2ea1f40a3bcdab7891357584f
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4
Three Complex alleles associated with N1303K mutation and their molecular consequences
Autor: Raëd, Farhat, Ayman, El-Seedy, Marie-Claude, Pasquet, Sandra, Corbani, André, Megarbané, Alain, Kitzis, Véronique, Ladeveze
Publikováno v: Cellular and molecular biology (Noisy-le-Grand, France). 68(4)
Cystic Fibrosis (CF) in Arab Mediterranean countries has a different CFTR mutational profile if compared either to Caucasians or in the Arabian Peninsula. The c.3909CG (N1303K, p.Asn1303Lys) mutation of the Cystic Fibrosis Transmembrane Conductance R
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1a11ae053bbc0f1281f117d99c3d8ef5
https://pubmed.ncbi.nlm.nih.gov/35988290
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7
A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients
Autor: Frédéric Bilan, Gara Samara Brajadenta, Brigitte Gilbert-Dussardier, Vincent Thoreau, Alain Kitzis
Publikováno v: Eur J Hum Genet
CHARGE syndrome is a rare genetic disease characterized by numerous congenital abnormalities, mainly caused by de novo alterations of the CHD7 gene. It encodes a chromodomain protein, involved in the ATP-dependent remodeling of chromatin. The vast ma
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48e91e32008b452b64c2524388195f35
https://pubmed.ncbi.nlm.nih.gov/31289371
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9
CFTR -France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants
Autor: Ingrid Duguépéroux, Emmanuelle Girodon, C. Thèze, David Baux, Marie-Pierre Audrézet, M.-P. Reboul, V. Gaston, Eric Bieth, Thierry Bienvenu, Marie des Georges, Lydie Lemonnier, C. Bareil, Mireille Claustres, C. Raynal, Guy Lalau, Marie-Claire Malinge, Souphatta Sasorith, Vincent Thoreau, Chadia Mekki, Pascale Fanen, Anne Bergougnoux, Patricia Fergelot, Alain Kitzis, Claude Férec, A. Pagin
Publikováno v: Human Mutation
Human Mutation, Wiley, 2017, 38 (10), pp.1297-1315. ⟨10.1002/humu.23276⟩
International audience; Most of the 2,000 variants identified in the CFTR (cystic fibrosis transmembrane regulator) gene are rare or private. Their interpretation is hampered by the lack of available data and resources, making patient care and geneti
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8082cfd704b4f7ba7405b39279e65427
https://hal.umontpellier.fr/hal-02434844
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10
In cellulo analyses of the p.Val322Ala mutation on the CFTR protein conformation and activity
Autor: Ariestya Indah Permata Sari, Marie-Claude Pasquet, Alain Kitzis, Véronique Ladeveze, Raed Farhat, Ayman El-Seedy, Frédéric Becq, Caroline Norez
Publikováno v: Comptes Rendus Biologies
Comptes Rendus Biologies, Elsevier, 2017, 340 (8), pp.367-371. ⟨10.1016/j.crvi.2017.06.001⟩
Cystic fibrosis is caused by mutations on the Cystic Fibrosis Transmembrane conductance Regulator gene (CFTR). Exonic mutations may have variable effect on the CFTR protein and may alter the normal localization of CFTR on the apical membrane of epith
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::318177a3fcb6d30fc2ba6501cec009a7
https://hal.archives-ouvertes.fr/hal-01708268
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