The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype

Authors: Kevin Uguen, Marlène Le Tertre, Dimitri Tchernitchko, Ahmad Elbahnsi, Sandrine Maestri, Isabelle Gourlaouen, Claude Férec, Chandran Ka, Isabelle Callebaut, Gérald Le Gac

Source: HGG Advances, Vol 5, Iss 4, Pp 100335- (2024)

Subject Terms: Ferroportin disease, SLC40A1-related hemochromatosis, MFS transporters, Hepcidin, Pathogenicity of missense variants, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724000757; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/628bcda8ead241819061e4af36cf09ea

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

Authors: 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

Source: Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1574-1579 (2020)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2328-9503

Access URL: https://doaj.org/article/7d3c43e10fb04b28ae396953bb1e0314

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

Authors: 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

Source: BMC Genomics, Vol 21, Iss 1, Pp 1-12 (2020)

Subject Terms: Branch point, Prediction, RNA, Benchmark, HSF, SVM-BPfinder, Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/da6b4502084e4b2a87009788da78c331

Blood transcriptomic biomarker as a surrogate of ischemic brain gene expression

Authors: LeeAnn Ramsay, Marie‐Lise Quillé, Cyrille Orset, Pierre de laGrange, Estelle Rousselet, Claude Férec, Gérald Le Gac, Emmanuelle Génin, Serge Timsit

Source: Annals of Clinical and Translational Neurology, Vol 6, Iss 9, Pp 1681-1695 (2019)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2328-9503

Access URL: https://doaj.org/article/c6cf0ce2bb62404e9a0a42db45ae0385

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

Authors: 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

Source: Haematologica, Vol 103, Iss 11 (2018)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: https://haematologica.org/article/view/8657; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

Access URL: https://doaj.org/article/1f0d0cbc356347acb8324b9633747899

A gene expression and pre-mRNA splicing signature that marks the adenoma-adenocarcinoma progression in colorectal cancer.

Authors: Marine Pesson, Alain Volant, Arnaud Uguen, Kilian Trillet, Pierre De La Grange, Marc Aubry, Mélanie Daoulas, Michel Robaszkiewicz, Gérald Le Gac, Alain Morel, Brigitte Simon, Laurent Corcos

Source: PLoS ONE, Vol 9, Iss 2, p e87761 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3916340?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/8f50b73c226e4fc68e35d062d0eafe33

Evidence for the high importance of co-morbid factors in HFE C282Y/H63D patients cared by phlebotomies: results from an observational prospective study.

Authors: Philippe Saliou, Gérald Le Gac, Anne-Yvonne Mercier, Brigitte Chanu, Paul Guéguen, Marie-Christine Mérour, Isabelle Gourlaouen, Sandrine Autret, Cédric Le Maréchal, Karen Rouault, Jean-Baptiste Nousbaum, Claude Férec, Virginie Scotet

Source: PLoS ONE, Vol 8, Iss 12, p e81128 (2013)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3855242?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/3696df7408e14e219065d8c0cc60737c

Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia

Authors: Gérald Le Gac, Rita Congiu, Isabelle Gourlaouen, Milena Cau, Claude Férec, Maria Antonietta Melis

Source: Haematologica, Vol 95, Iss 4 (2010)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: https://haematologica.org/article/view/5570; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

Access URL: https://doaj.org/article/cd7e2f69f7664b72aff4efb4704cc38a

HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype

Authors: Gérald Le Gac, Chandran Ka, Isabelle Gourlaouen, Laurence Bryckaert, Anne-Yvonne Mercier, Brigitte Chanu, Virginie Scotet, Claude Férec

Source: Advances in Hematology, Vol 2009 (2009)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: https://doaj.org/toc/1687-9104; https://doaj.org/toc/1687-9112

Access URL: https://doaj.org/article/1d04a980845e43e5937a93d84b644675

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

Authors: Chandran Ka, Gérald Le Gac, Emilie Letocart, Isabelle Gourlaouen, Brigitte Martin, Claude Férec

Source: Haematologica, Vol 92, Iss 9 (2007)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: https://haematologica.org/article/view/4571; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

Access URL: https://doaj.org/article/3599165c1d5747c99bbe4bb93883415b

Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

Authors: 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

Source: Human Genomics, Vol 18, Iss 1, Pp 1-23 (2024)

Subject Terms: Chronic pancreatitis, Full-length gene splicing assay (FLGSA), Precision medicine in genetics, Pre-mRNA splicing, Single-nucleotide variants (SNVs), SpliceAI, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1479-7364

Access URL: https://doaj.org/article/d02d19b436f74bb4b284a9c0563849d2

Expanding ACMG variant classification guidelines into a general framework

Authors: Emmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, David N. Cooper, Gerald Le Gac, Yann Fichou, Na Pu, Vinciane Rebours, Claude Férec, Zhuan Liao, Jian-Min Chen

Source: Human Genomics, Vol 16, Iss 1, Pp 1-15 (2022)

Subject Terms: ACMG guidelines, Allele frequency threshold, Allelic heterogeneity, Disease prevalence, Exome sequencing, Genetic heterogeneity, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1479-7364

Access URL: https://doaj.org/article/2eb0e4b3e2f04a0db191e0fc90b873c0

Splicing Outcomes of 5′ Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays

Authors: Jin-Huan Lin, Hao Wu, Wen-Bin Zou, Emmanuelle Masson, Yann Fichou, Gerald Le Gac, David N. Cooper, Claude Férec, Zhuan Liao, Jian-Min Chen

Source: Frontiers in Genetics, Vol 12 (2021)

Subject Terms: aberrant transcript, full-length gene splicing assay, genetic variant, minigene splicing assay, splice site, SpliceAI, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.701652/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/920a9cae8edb476b95ec85d518580099

Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study

Authors: Virginie Scotet, Philippe Saliou, Marianne Uguen, Carine L’Hostis, Marie-Christine Merour, Céline Triponey, Brigitte Chanu, Jean-Baptiste Nousbaum, Gerald Le Gac, Claude Ferec

Source: BMC Pregnancy and Childbirth, Vol 18, Iss 1, Pp 1-8 (2018)

Subject Terms: Genetic hemochromatosis, Iron overload, Phenotype, Pregnancy, Gynecology and obstetrics, RG1-991

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12884-018-1684-6; https://doaj.org/toc/1471-2393

Access URL: https://doaj.org/article/9e94fe8d36ec40ceab6896fc13f43ddd

Interlaboratory development and validation of a HRM method applied to the detection of JAK2 exon 12 mutations in polycythemia vera patients.

Authors: Valerie Ugo, Sylvie Tondeur, Marie-Laurence Menot, Nadine Bonnin, Gerald Le Gac, Carole Tonetti, Veronique Mansat-De Mas, Lydie Lecucq, Jean-Jacques Kiladjian, Christine Chomienne, Christine Dosquet, Nathalie Parquet, Luc Darnige, Marc Porneuf, Martine Escoffre-Barbe, Stephane Giraudier, Eric Delabesse, Bruno Cassinat, French Intergroup of Myeloproliferative disorders

Source: PLoS ONE, Vol 5, Iss 1, p e8893 (2010)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC2811183?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/565e0bd568b04db59586e23239b106ed