Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Chandran Ka"'
Autor:
Kevin Uguen, Marlène Le Tertre, Dimitri Tchernitchko, Ahmad Elbahnsi, Sandrine Maestri, Isabelle Gourlaouen, Claude Férec, Chandran Ka, Isabelle Callebaut, Gérald Le Gac
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100335- (2024)
Summary: Heterozygous mutations in SLC40A1, encoding a multi-pass membrane protein of the major facilitator superfamily known as ferroportin 1 (FPN1), are responsible for two distinct hereditary iron-overload diseases: ferroportin disease, which is a
Externí odkaz:
https://doaj.org/article/628bcda8ead241819061e4af36cf09ea
Autor:
Raphaël Santinelli, Nathalie Benz, Julie Guellec, Fabien Quinquis, Ervin Kocas, Johan Thomas, Tristan Montier, Chandran Ka, Emilie Luczka-Majérus, Edouard Sage, Claude Férec, Christelle Coraux, Pascal Trouvé
Publikováno v:
Cells, Vol 13, Iss 2, p 185 (2024)
Cystic Fibrosis (CF) is present due to mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, the most frequent variant being p.phe508del. The CFTR protein is a chloride (Cl-) channel which is defective and almost absent of
Externí odkaz:
https://doaj.org/article/1df0a3bbb957459990fefa6de7980f82
Autor:
Agustí Rodríguez‐Palmero, Agatha Schlüter, Edgard Verdura, Montserrat Ruiz, Juan José Martínez, Isabelle Gourlaouen, Chandran Ka, Ricardo Lobato, Carlos Casasnovas, Gérald Le Gac, Stéphane Fourcade, Aurora Pujol
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1574-1579 (2020)
Abstract Objective To identify the genetic cause in an adult ovarioleukodystrophy patient resistant to diagnosis. Methods We applied whole‐exome sequencing (WES) to a vanishing white matter disease patient associated with premature ovarian failure
Externí odkaz:
https://doaj.org/article/7d3c43e10fb04b28ae396953bb1e0314
Autor:
Raphaël Leman, Hélène Tubeuf, Sabine Raad, Isabelle Tournier, Céline Derambure, Raphaël Lanos, Pascaline Gaildrat, Gaia Castelain, Julie Hauchard, Audrey Killian, Stéphanie Baert-Desurmont, Angelina Legros, Nicolas Goardon, Céline Quesnelle, Agathe Ricou, Laurent Castera, Dominique Vaur, Gérald Le Gac, Chandran Ka, Yann Fichou, Françoise Bonnet-Dorion, Nicolas Sevenet, Marine Guillaud-Bataille, Nadia Boutry-Kryza, Inès Schultz, Virginie Caux-Moncoutier, Maria Rossing, Logan C. Walker, Amanda B. Spurdle, Claude Houdayer, Alexandra Martins, Sophie Krieger
Publikováno v:
BMC Genomics, Vol 21, Iss 1, Pp 1-12 (2020)
Abstract Background Branch points (BPs) map within short motifs upstream of acceptor splice sites (3’ss) and are essential for splicing of pre-mature mRNA. Several BP-dedicated bioinformatics tools, including HSF, SVM-BPfinder, BPP, Branchpointer,
Externí odkaz:
https://doaj.org/article/da6b4502084e4b2a87009788da78c331
Autor:
Chandran Ka, Julie Guellec, Xavier Pepermans, Caroline Kannengiesser, Cécile Ged, Wim Wuyts, David Cassiman, Victor de Ledinghen, Bruno Varet, Caroline de Kerguenec, Claire Oudin, Isabelle Gourlaouen, Thibaud Lefebvre, Claude Férec, Isabelle Callebaut, Gérald Le Gac
Publikováno v:
Haematologica, Vol 103, Iss 11 (2018)
Hemochromatosis type 4 is one of the most common causes of primary iron overload, after HFE-related hemochromatosis. It is an autosomal dominant disorder, primarily due to missense mutations in SLC40A1. This gene encodes ferroportin 1 (FPN1), which i
Externí odkaz:
https://doaj.org/article/1f0d0cbc356347acb8324b9633747899
Autor:
Gérald Le Gac, Chandran Ka, Isabelle Gourlaouen, Laurence Bryckaert, Anne-Yvonne Mercier, Brigitte Chanu, Virginie Scotet, Claude Férec
Publikováno v:
Advances in Hematology, Vol 2009 (2009)
Phenotypic expression of the common p.C282Y/p.C282Y HFE-related hemochromatosis genotype is heterogeneous and depends on a complex interplay of genetic and non-genetic factors. Haptoglobin has a crucial role in free hemoglobin iron recovery, and exis
Externí odkaz:
https://doaj.org/article/1d04a980845e43e5937a93d84b644675
Autor:
Chandran Ka, Gérald Le Gac, Emilie Letocart, Isabelle Gourlaouen, Brigitte Martin, Claude Férec
Publikováno v:
Haematologica, Vol 92, Iss 9 (2007)
In the present study, we correlate homozygosity for the very recently identified HJV p.R176C substitution with a juvenile hemochromatosis phenotype. We also show that the p.R176C variant fails to up-regulate the hepcidin promoter activity. Altogether
Externí odkaz:
https://doaj.org/article/3599165c1d5747c99bbe4bb93883415b
Autor:
Emmanuelle Masson, Stéphanie Berthet, Gerald Le Gac, Marc Le Rhun, Chandran Ka, Sandrine Autret, Isabelle Gourlaouen, David N. Cooper, Claude Férec, Vinciane Rebours, Jian-Min Chen
Publikováno v:
Pancreatology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f1d70db456def565f9fa45849b30bec4
https://doi.org/10.1016/j.pan.2023.05.011
https://doi.org/10.1016/j.pan.2023.05.011
Autor:
Loïc Couloigner, Marc Planes, Chandran Ka, Séverine Audebert‐Bellanger, Sylvia Redon, Caroline Benech, Karen Rouault, Sebastien Küry, Sylviane Peudenier, Sandrine Autret, Isabelle Gourlaouen, Dominique Bonneau, Sylvie Odent, Stéphane Bézieau, Brigitte Gilbert‐Dussardier, Annick Toutain, Anne Boland, Jean‐François Deleuze, Cédric Le Marechal, Gérald Le Gac, Claude Ferec, Kevin Uguen
Publikováno v:
Clinical Genetics
Clinical Genetics, 2023, 103 (3), pp.377-379. ⟨10.1111/cge.14270⟩
Clinical Genetics, 2023, 103 (3), pp.377-379. ⟨10.1111/cge.14270⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ef1290aa9226cb2800508ba82ba6889
https://pubmed.ncbi.nlm.nih.gov/36444497
https://pubmed.ncbi.nlm.nih.gov/36444497
Autor:
Raphaël Leman, Béatrice Parfait, Dominique Vidaud, Emmanuelle Girodon, Laurence Pacot, Gérald Le Gac, Chandran Ka, Claude Ferec, Yann Fichou, Céline Quesnelle, Camille Aucouturier, Etienne Muller, Dominique Vaur, Laurent Castera, Flavie Boulouard, Agathe Ricou, Hélène Tubeuf, Omar Soukarieh, Pascaline Gaildrat, Florence Riant, Marine Guillaud‐Bataille, Sandrine M. Caputo, Virginie Caux‐Moncoutier, Nadia Boutry‐Kryza, Françoise Bonnet‐Dorion, Ines Schultz, Maria Rossing, Olivier Quenez, Louis Goldenberg, Valentin Harter, Michael T. Parsons, Amanda B. Spurdle, Thierry Frébourg, Alexandra Martins, Claude Houdayer, Sophie Krieger
Publikováno v:
Leman, R, Parfait, B, Vidaud, D, Girodon, E, Pacot, L, Le Gac, G, Ka, C, Ferec, C, Fichou, Y, Quesnelle, C, Aucouturier, C, Muller, E, Vaur, D, Castera, L, Boulouard, F, Ricou, A, Tubeuf, H, Soukarieh, O, Gaildrat, P, Riant, F, Guillaud-Bataille, M, Caputo, S M, Caux-Moncoutier, V, Boutry-Kryza, N, Bonnet-Dorion, F, Schultz, I, Rossing, M, Quenez, O, Goldenberg, L, Harter, V, Parsons, M T, Spurdle, A B, Frébourg, T, Martins, A, Houdayer, C & Krieger, S 2022, ' SPiP : Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing ', Human Mutation, vol. 43, no. 12, pp. 2308-2323 . https://doi.org/10.1002/humu.24491
Modeling splicing is essential for tackling the challenge of variant interpretation as each nucleotide variation can be pathogenic by affecting pre-mRNA splicing via disruption/creation of splicing motifs such as 5’/3’ splice sites, branch sites
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f23e6a32d3c9cfdbbec60012cc9c0a3
https://pubmed.ncbi.nlm.nih.gov/36273432
https://pubmed.ncbi.nlm.nih.gov/36273432