Gerald Le Gac

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论文共 122 篇作者统计合作学者相似作者

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Targeted RNAseq from Patients’ Urinary Cells to Validate Pathogenic Non Coding Variants in Autosomal Dominant Polycystic Kidney Disease Genes: a Proof of Concept

Guillaume Dorval,Gérald Le Gac,Vincent Morinière,Chandran Ka,Claire Goursaud,Bertrand Knebelmann, Pierre Marijon,Sophie Nambot,Nicolas Cagnard,Patrick Nitschké,Laurence Michel-Calemard,Marie-Pierre Audrézet,Laurence Heidet

Kidney international (2024)

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Combining Full-Length Gene Assay and SpliceAI to Interpret the Splicing Impact of All Possible SPINK1 Coding Variants

Hao Wu,Jin-Huan Lin,Xin-Ying Tang,Gaëlle Marenne,Wen-Bin Zou,Sacha Schutz,Emmanuelle Masson,Emmanuelle Génin,Yann Fichou,Gerald Le Gac,Claude Férec,Zhuan Liao,Jian-Min Chen

HUMAN GENOMICSno. 1 (2024)

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The Dual Loss and Gain of Function of the FPN1 Iron Exporter Results in the Ferroportin Disease Phenotype

Kevin Uguen,Marlne Le Tertre,Dimitri Tchernitchko,Ahmad Elbahnsi,Sandrine Maestri,Isabelle Gourlaouen,Claude Ferec,Chandran Ka,Isabelle Callebaut,Gerald Le Gac

Human Genetics and Genomics Advancesno. 4 (2024): 100335-100335

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Insights into the Role of Glycerophospholipids on the Iron Export Function of SLC40A1 and the Molecular Mechanisms of Ferroportin Disease

Rim Debbiche,Ahmad Elbahnsi,Kevin Uguen,Chandran Ka,Isabelle Callebaut,Gerald Le Gac

FASEB JOURNAL（2024）

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The Multi-Faceted Nature of 15 CFTR Exonic Variations: Impact on Their Functional Classification and Perspectives for Therapy

Journal of cystic fibrosisno. 3 (2023): 515-524

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Identification of Protease-Sensitive but Not Misfolding PNLIP Variants in Familial and Hereditary Pancreatitis

Emmanuelle Masson,Stephanie Berthet,Gerald Le Gac,Marc Le Rhun,Chandran Ka,Sandrine Autret,Isabelle Gourlaouen,David N. Cooper,Claude Ferec,Vinciane Rebours,Jian-Min Chen

Pancreatologyno. 5 (2023): 507-511

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

Kevin Uguen,Chandran Ka,Gwenaelle Collod-Beroud,Marlene Le Tertre,Julie Guellec,Claude Ferec,Christophe Beroud,Isabelle Callebaut,Gerald Le Gac

Human Mutation (2023): 1-22

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Cholesterol Modulates the Human FPN1 Iron Export Function in Plasma Membrane Liquid-Ordered Microdomains

Rim Debbiche,Chandran Ka,Isabelle Gourlaouen,Sandrine Maestri,Kévin Uguen,Paul-Alain Jaffrès,Isabelle Callebaut,Gérald Le Gac

biorxiv（2023）

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A systematic annotation of the impact on splicing of all possible substitutions within the SPINK1 coding sequence

Hao Wu,Jin-Huan Lin,Wen-Bin Zou,Emmanuelle Masson,Sacha Schutz,David N. Cooper,Gerald Le Gac,Claude Ferec,Zhao-Shen Li,Zhuan Liao,Jian-Min Chen

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 572-573

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Prevalence of HFE‐related Haemochromatosis and Secondary Causes of Hyperferritinaemia and Their Association with Iron Overload in 1059 French Patients Treated by Venesection

Gerald Le Gac,Virginie Scotet,Isabelle Gourlaouen,Carine L'Hostis,Marie-Christine Merour,Zoubida Karim,Yves Deugnier,Edouard Bardou-Jacquet,Thibaud Lefebvre,Suzanne Assari,Claude Ferec

ALIMENTARY PHARMACOLOGY & THERAPEUTICS（2022）

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论文共 122 篇作者统计合作学者相似作者