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

Raphael Leman , Pascaline Gaildrat , Gerald L. Gac , Chandran Ka , Yann Fichou et al.
Nucleic Acids Research, 2018, 46 (15), pp.7913-7923. ⟨10.1093/nar/gky372⟩
Journal articles hal-01910334v1
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Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A

Julie Guellec , Ahmad Elbahnsi , Marlène Le Tertre , Kévin Uguen , Isabelle Gourlaouen et al.
FASEB Journal, 2019, 33 (12), pp.14625-14635. ⟨10.1096/fj.201901857R⟩
Journal articles hal-03031336v1

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

Loïc Couloigner , Marc Planes , Chandran Ka , Séverine Audebert-Bellanger , Sylvia Redon et al.
Clinical Genetics, 2023, 103 (3), pp.377-379. ⟨10.1111/cge.14270⟩
Journal articles hal-03930818v1
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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

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

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

Marlène Le Tertre , Ahmad Elbahnsi , Chandran Ka , Isabelle Callebaut , Gérald Le Gac et al.
International Journal of Molecular Sciences, 2021, 22 (12), pp.6412. ⟨10.3390/ijms22126412⟩
Journal articles hal-03278459v1

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

Raphaël Leman , Hélène Tubeuf , Sabine Raad , Isabelle Tournier , Céline Derambure et al.
BMC Genomics, 2020, 21 (1), pp.86. ⟨10.1186/s12864-020-6484-5⟩
Journal articles hal-03616666v1
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Missense RHD SNVs induce weakened D antigen expression by altering splicing and/or protein expression

Loann Raud , Marlène Le Tertre , Léonie Vigneron , Chandran Ka , Gaëlle Richard et al.
Transfusion, 2021, 61 (8), pp.2468-2476. ⟨10.1111/trf.16538⟩
Journal articles hal-03329916v1