C. Ka

发表

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

A. Schlüter, A. Pujol, C. Casasnovas, 2020, Annals of clinical and translational neurology.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2018, Nucleic acids research.

Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes.

C. Férec, Y. Fichou, Jian-Min Chen, 2020, Blood cells, molecules & diseases.

First estimation of the scale of canonical 5’ splice site GT>GC mutations generating wild-type transcripts and their medical genetic implications

D. Cooper, M. Mort, Z. Liao, 2018, bioRxiv.

A novel thrombopoietin (THPO) mutation altering mRNA splicing in a case of familial thrombocytosis

L. Corcos, V. Prouzet-Mauléon, E. Lippert, 2020, British journal of haematology.

Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue

I. Callebaut, A. Elbahnsi, C. Ka, 2021, International journal of molecular sciences.

Structure‐Function Analysis of the Human Ferroportin Iron Exporter (SLC40A1): Effect of Hemochromatosis Type 4 Disease Mutations and Identification of Critical Residues

C. Férec, J. Mornon, I. Callebaut, 2013, Human mutation.

The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.

C. Férec, C. Mura, I. Gourlaouen, 2004, Human molecular genetics.

Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data

C. Férec, J. Nousbaum, C. Mura, 2005, BMC Medical Genetics.

Deciphering the molecular basis of ferroportin resistance to hepcidin: Structure/function analysis of rare SLC40A1 missense mutations found in suspected hemochromatosis type 4 patients.

C. Férec, I. Callebaut, I. Gourlaouen, 2017, Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine.

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

C. Ged, C. Oudin, C. Férec, 2014, Human molecular genetics.

A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin‐associated iron overload diseases

C. Férec, P. Grammatico, E. Létocart, 2009, British journal of haematology.

C. Férec, I. Gourlaouen, C. Ka, 2009, Advances in hematology.

Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation

C. Férec, E. Létocart, I. Gourlaouen, 2007, Haematologica.

Diagnostic value of targeted next‐generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele

C. Férec, I. Gourlaouen, C. Ka, 2017, American journal of hematology.

Establishment of a medium‐throughput approach for the genotyping of RHD variants and report of nine novel rare alleles

I. Dupont, C. Férec, Y. Fichou, 2013, Transfusion.

First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts

D. Cooper, M. Mort, Z. Liao, 2019, Human mutation.

Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements

Josée Dostie, J. Dostie, C. Férec, 2015, Nucleic acids research.

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Yufeng Shen, R. Ganetzky, C. Voisset, 2022, Journal of inherited metabolic disease.

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

A. Spurdle, C. Houdayer, D. Vidaud, 2022, Human mutation.

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

A. Spurdle, N. Sevenet, C. Houdayer, 2019, BMC Genomics.

The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein

C. Férec, F. Dupradeau, J. Rochette, 2005, Human Genetics.

TIMP1 intron 3 retention is a marker of colon cancer progression controlled by hnRNPA1

B. Simon, L. Corcos, P. Trouvé, 2020, Molecular Biology Reports.

Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype

C. Férec, I. Callebaut, Y. Fichou, 2019, Transfusion.

Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression

C. Férec, I. Callebaut, Y. Fichou, 2021, Transfusion.

Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A

C. Férec, I. Callebaut, A. Elbahnsi, 2019, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2019, Nucleic acids research.

Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

N. Thierry-Mieg, P. Ray, Y. Fichou, 2020, Journal of Medical Genetics.

TIMP1 intron 3 retention is a marker of colon cancer progression controlled by hnRNPA1

B. Simon, L. Corcos, P. Trouvé, 2020, Molecular Biology Reports.

The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism

V. de Lédinghen, C. Ged, C. Oudin, 2018, Haematologica.

Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.

D. Cooper, C. Férec, V. Rebours, 2023, Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.].

The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease)

C. Béroud, C. Férec, G. Collod-Béroud, 2023, Human Mutation.

A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature

A. Toutain, S. Küry, B. Gilbert-Dussardier, 2022, Clinical genetics.

Gene Network Mediates Cellular Response to the Anticancer PAD Inhibitor YW 3-56 in Triple Negative Breast Cancer Cells

B. Pugh, Jing Hu, Yanming Wang, 2015 .

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2018, Nucleic acids research.

The p.Leu96Pro Missense Mutation in the BMP6 Gene Is Repeatedly Associated With Hyperferritinemia in Patients of French Origin.

C. Férec, I. Gourlaouen, C. Ka, 2016, Gastroenterology.