Marie-claude C. Pasquet

Poitiers, France

Last Updated: 09/26/2026

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Found 8 publications

Three Complex alleles associated with N1303K mutation and their molecular consequences.

Three Complex alleles associated with N1303K mutation and their molecular consequences.

Journal: Cellular and molecular biology (Noisy-le-Grand, France)

Published: March 30, 2022

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

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

Journal: Cellular and molecular biology (Noisy-le-Grand, France)

Published: May 19, 2017

In cellulo analyses of the p.Val322Ala mutation on the CFTR protein conformation and activity.

In cellulo analyses of the p.Val322Ala mutation on the CFTR protein conformation and activity.

Journal: Comptes rendus biologies

Published: January 19, 2017

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

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

Journal: Cellular and molecular biology (Noisy-le-Grand, France)

Published: December 27, 2016

Multi-physiopathological consequences of the c.1392G>T CFTR mutation revealed by clinical and cellular investigations.

Multi-physiopathological consequences of the c.1392G>T CFTR mutation revealed by clinical and cellular investigations.

Journal: Biochemistry and cell biology = Biochimie et biologie cellulaire

Published: November 19, 2014

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.

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.

Journal: BioMed research international

Published: October 10, 2014

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

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

Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society

Published: October 03, 2012

CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.

CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.

Journal: Human mutation

Published: February 13, 2012

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Last Updated: 09/26/2026