Zobrazeno 1 - 10
of 686
pro vyhledávání: '"Claude Férec"'
Autor:
Isabel Alves, Joanna Giemza, Michael G. B. Blum, Carolina Bernhardsson, Stéphanie Chatel, Matilde Karakachoff, Aude Saint Pierre, Anthony F. Herzig, Robert Olaso, Martial Monteil, Véronique Gallien, Elodie Cabot, Emma Svensson, Delphine Bacq, Estelle Baron, Charlotte Berthelier, Céline Besse, Hélène Blanché, Ozvan Bocher, Anne Boland, Stéphanie Bonnaud, Eric Charpentier, Claire Dandine-Roulland, Claude Férec, Christine Fruchet, Simon Lecointe, Edith Le Floch, Thomas E. Ludwig, Gaëlle Marenne, Vincent Meyer, Elisabeth Quellery, Fernando Racimo, Karen Rouault, Florian Sandron, Jean-Jacques Schott, Lourdes Velo-Suarez, Jade Violleau, Eske Willerslev, Yves Coativy, Mael Jézéquel, Daniel Le Bris, Clément Nicolas, Yvan Pailler, Marcel Goldberg, Marie Zins, Hervé Le Marec, Mattias Jakobsson, Pierre Darlu, Emmanuelle Génin, Jean-François Deleuze, Richard Redon, Christian Dina
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract The demographical history of France remains largely understudied despite its central role toward understanding modern population structure across Western Europe. Here, by exploring publicly available Europe-wide genotype datasets together wi
Externí odkaz:
https://doaj.org/article/2cfe22713c9047a98436743628f16f58
Autor:
Kevin Uguen, Marlène Le Tertre, Dimitri Tchernitchko, Ahmad Elbahnsi, Sandrine Maestri, Isabelle Gourlaouen, Claude Férec, Chandran Ka, Isabelle Callebaut, Gérald Le Gac
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100335- (2024)
Summary: Heterozygous mutations in SLC40A1, encoding a multi-pass membrane protein of the major facilitator superfamily known as ferroportin 1 (FPN1), are responsible for two distinct hereditary iron-overload diseases: ferroportin disease, which is a
Externí odkaz:
https://doaj.org/article/628bcda8ead241819061e4af36cf09ea
Autor:
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
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-23 (2024)
Abstract Background Single-nucleotide variants (SNVs) within gene coding sequences can significantly impact pre-mRNA splicing, bearing profound implications for pathogenic mechanisms and precision medicine. In this study, we aim to harness the well-e
Externí odkaz:
https://doaj.org/article/d02d19b436f74bb4b284a9c0563849d2
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 17, p 9599 (2024)
Just over thirty years is the span of a generation. It is also the time that has passed since the discovery of the gene responsible for cystic fibrosis. Today, it is safe to say that this discovery has revolutionized our understanding, research persp
Externí odkaz:
https://doaj.org/article/11cd1bad94f549f3b22908deeb809073
Autor:
Yuan-Chen Wang, Wen-Bin Zou, Da-Hai Tang, Lei Wang, Liang-Hao Hu, Yang-Yang Qian, David N. Cooper, Claude Férec, Zhao-Shen Li, Jian-Min Chen, Zhuan Liao
Publikováno v:
Gastro Hep Advances, Vol 2, Iss 2, Pp 186-195 (2023)
Background and Aims: Heavy alcohol consumption and genetic factors represent the 2 major etiologies of chronic pancreatitis (CP). However, little is so far known about the clinical features and genetic basis of light-to-moderate alcohol consumption-r
Externí odkaz:
https://doaj.org/article/37f13a2060944ab5bb6c73244fcce54d
Autor:
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
Publikováno v:
Human Genomics, Vol 16, Iss 1, Pp 1-15 (2022)
Abstract Background The American College of Medical Genetics and Genomics (ACMG)-recommended five variant classification categories (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign) have been widely used in medical ge
Externí odkaz:
https://doaj.org/article/2eb0e4b3e2f04a0db191e0fc90b873c0
Autor:
Raphaël Santinelli, Nathalie Benz, Julie Guellec, Fabien Quinquis, Ervin Kocas, Johan Thomas, Tristan Montier, Chandran Ka, Emilie Luczka-Majérus, Edouard Sage, Claude Férec, Christelle Coraux, Pascal Trouvé
Publikováno v:
Cells, Vol 13, Iss 2, p 185 (2024)
Cystic Fibrosis (CF) is present due to mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, the most frequent variant being p.phe508del. The CFTR protein is a chloride (Cl-) channel which is defective and almost absent of
Externí odkaz:
https://doaj.org/article/1df0a3bbb957459990fefa6de7980f82
Autor:
Xiao-Tong Mao, MD, Wen-Bin Zou, MD, Yu Cao, MD, Yuan-Chen Wang, BM, Shun-Jiang Deng, BM, David N. Cooper, PhD, Claude Férec, MD, PhD, Zhao-Shen Li, MD, Jian-Min Chen, MD, PhD, Zhuan Liao, MD
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 14, Iss 1, Pp 55-74 (2022)
Background & Aims: A hybrid allele that originated from homologous recombination between CEL and its pseudogene (CELP), CEL-HYB1 increases the risk of chronic pancreatitis (CP). Although suggested to cause digestive enzyme misfolding, definitive in v
Externí odkaz:
https://doaj.org/article/8c808e6aa23e4bab961e489f6922796e
Autor:
Mathilde Pacault, Camille Verebi, Magali Champion, Lucie Orhant, Alexandre Perrier, Emmanuelle Girodon, France Leturcq, Dominique Vidaud, Claude Férec, Thierry Bienvenu, Romain Daveau, Juliette Nectoux
Publikováno v:
PLoS ONE, Vol 18, Iss 4, p e0280976 (2023)
Non-invasive prenatal diagnosis of single-gene disorders (SGD-NIPD) has been widely accepted, but is mostly limited to the exclusion of either paternal or de novo mutations. Indeed, it is still difficult to infer the inheritance of the maternal allel
Externí odkaz:
https://doaj.org/article/924e81eb10694715866e532df5d26618
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 13, p 10678 (2023)
More than 2000 variations are described within the CFTR (Cystic Fibrosis Transmembrane Regulator) gene and related to large clinical issues from cystic fibrosis to mono-organ diseases. Although these CFTR-associated diseases have been well documented
Externí odkaz:
https://doaj.org/article/3f6e2c7da5c1418a8defe50be724c854