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authFullName_s : Gerald Le Gac

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

Loann Raud , Chandran Ka , Isabelle Gourlaouen , Isabelle Callebaut , Claude Férec et al.
Transfusion, 2019, 59 (4), pp.1367-1375. ⟨10.1111/trf.15210⟩
Journal articles hal-02343205v1

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

Chandran Ka , Julie Guellec , Xavier Pepermans , Caroline Kannengiesser , Cecile Ged et al.
Haematologica, 2018, 103 (11), pp.1796-1805. ⟨10.3324/haematol.2018.189845⟩
Journal articles hal-02343118v1
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Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

Guillaume Martinez , Julie Beurois , Denis Dacheux , Caroline Cazin , Marie Bidart et al.
Journal of Medical Genetics, 2020, 57 (10), pp.708-716. ⟨10.1136/jmedgenet-2019-106775⟩
Journal articles hal-03004959v1

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

Isabelle Callebaut , Rozenn Joubrel , Serge Pissard , Caroline Kannengiesser , Victoria Gerolami et al.
Human Molecular Genetics, 2014, 23 (17), pp.4479-4490. ⟨10.1093/hmg/ddu160⟩
Journal articles hal-01057059v1

Biallelic Mutations in Hamp in Type 2b Hemochromatosis

Serge Pissard , Ka Chandran , Florence Houriez , Ichrache Benmaad , Martial Saunier et al.
Journal articles hal-03605940v1
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Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans

Raed Daher , Caroline Kannengiesser , Dounia Houamel , Thibaud Lefebvre , Edouard Bardou-Jacquet et al.
Gastroenterology, 2016, 150 (3), pp.672-683. ⟨10.1053/j.gastro.2015.10.049⟩
Journal articles hal-01231430v1
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Blood transcriptomic biomarker as a surrogate of ischemic brain gene expression

Leeann Ramsay , Marie-Lise Quillé , Cyrille Orset , Pierre de La Grange , Estelle Rousselet et al.
Annals of Clinical and Translational Neurology, In press, ⟨10.1002/acn3.50861⟩
Journal articles hal-02282950v1

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

Gerald Le Gac , Chandran Ka , Rozenn Joubrel , Isabelle Gourlaouen , Pierre Lehn et al.
Human Mutation, 2013, 34 (10), pp.1371-1380
Journal articles hal-00911335v1