Výsledky vyhledávání - "Marie-Claude Pasquet"

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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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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Complexity of phenotypes induced by p.Asn1303Lys-CFTR correlates with difficulty to rescue and activate this protein

Autor: Véronique Ladeveze, Hugo Talbot, Alain Kitzis, Ayman El-Seedy, Catherine Adolphe, Marie-Claude Pasquet, Caroline Norez, Raí«d Farhat

Publikováno v: Cellular and molecular biology (Noisy-le-Grand, France). 63(11)

Cystic Fibrosis is the most common recessive autosomal rare disease found in Caucasian. It is caused by mutations on the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) that encodes for a protein located on the apical membrane of epit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26ac77068e715d11b546c4362d262c07
https://pubmed.ncbi.nlm.nih.gov/29208182

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Minigene Analysis of the c.743 + 40A > G Intronic Variant in the CFTR Gene

Autor: Véronique Ladeveze, Alain Kitzis, Ayman El-Seedy, Marie-Claude Pasquet, Raed Farhat

Publikováno v: Health. :1352-1360

Background: Since the identification of the cystic fibrosis transmembrane regulator (CFTR) gene in 1989, many polymorphisms have been identified in cystic fibrosis (CF) or CFTR-related disorders (CFTR-RDs) patients and still remain to be characterize

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b2c08900659e2c4c570aa733fb11429d
https://doi.org/10.4236/health.2014.612166

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Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations in North Egyptian population: implications for the genetic diagnosis in Egypt

Autor: T Morsi, Véronique Ladeveze, Alain Kitzis, Marie-Claude Pasquet, Hanaa Shafiek, Ayman El-Seedy

Publikováno v: Cellular and molecular biology (Noisy-le-Grand, France). 62(13)

Cystic fibrosis (CF) occurrence in Arab populations is not common and still remains underidentified. Furthermore, the lack of disease awareness and diagnosis facilities have mislead the identification of cystic fibrosis for decades. The knowledge abo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9bfece066e058734c125597064bd85c
https://pubmed.ncbi.nlm.nih.gov/28040058

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Influence of the Duplication of CFTR Exon 9 and Its Flanking Sequences on Diagnosis of Cystic Fibrosis Mutations

Autor: Véronique Ladeveze, Marie-Claude Pasquet, M.-P. Reboul, Ayman El-Seedy, Frédéric Bilan, Alain Kitzis, Tony Dudognon, Albert Iron

Publikováno v: The Journal of Molecular Diagnostics. 11:488-493

The DNA sequences of seven regions in the human genome were examined for sequence identity with exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which is mutated in cystic fibrosis, and its intronic boundaries. These seq

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a96cdbffea7cad7311c75e4d637d3bf
https://doi.org/10.2353/jmoldx.2009.090005

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N1303K (c.3909C>G) Mutation and Splicing: Implication of Its c.[744-33GATT(6); 869+11C>T] Complex Allele in CFTR Exon 7 Aberrant Splicing

Autor: Catherine Adolphe, André Mégarbané, Sandra Corbani, Véronique Ladeveze, Alain Kitzis, Raed Farhat, Ayman El-Seedy, Marie-Claude Pasquet, Géraldine Puissesseau

Publikováno v: BioMed Research International, Vol 2015 (2015)
BioMed Research International

Cystic Fibrosis is the most common recessive autosomal rare disease found in Caucasians. It is caused by mutations on theCystic Fibrosis Transmembrane Conductance Regulatorgene (CFTR) that encodes a protein located on the apical membrane of epithelia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70ed14f170e2f6db44c0842b0f47d0e7
https://doaj.org/article/a69f8464ba5f4132832d7034543186cd

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Consequences of partial duplications of the human CFTR gene on cf diagnosis: mutations or ectopic variations

Autor: Marie-Claude Pasquet, Ayman El-Seedy, Véronique Ladeveze, Alain Kitzis, M.-P. Audrézet, Thiery Bienvenu, Eric Bieth

Publikováno v: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society. 12(4)

CFTR exon 10 and its flanking regions are duplicated in the human genome. These duplications present mutations compared to the normal exon 10 sequence. Due to the polymorphic sequence of the 3′ intron 9 sequence, it may appear difficult to sequence

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63f5bd2bd8592f69ffd7c4c5402b6a5b
https://pubmed.ncbi.nlm.nih.gov/23261175

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