Detection of rare mutations, copy number variation, and DNA methylation in the same template DNA molecules

Autor: Yuxuan Wang, Christopher Douville, Joshua D. Cohen, Austin Mattox, Sam Curtis, Natalie Silliman, Maria Popoli, Janine Ptak, Lisa Dobbyn, Nadine Nehme, Jonathan C. Dudley, Mahmoud Summers, Ming Zhang, Chetan Bettegowda, Nickolas Papadopoulos, Kenneth W. Kinzler, Bert Vogelstein

The analysis of cell-free DNA (cfDNA) from plasma offers great promise for the earlier detection of cancer. At present, changes in DNA sequence, methylation, or copy number are the most sensitive ways to detect the presence of cancer. To further incr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b4beb46a894451db0bf0f939224cc019
https://doi.org/10.1101/2022.12.06.22283116

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ('FILS syndrome')

Autor: Patrick Nitschke, Marianne Debré, Anne Durandy, Capucine Picard, Geneviève de Saint Basile, Christine Bole-Feysot, Jana Pachlopnik Schmid, Annick Lim, Alain Fischer, Patrick Revy, Roxane Lemoine, Nadine Nehme, Laurence Legeai-Mallet, Valéry Cormier-Daire, Franck Debeurme, Jean-Pierre de Villartay

Publikováno v: The Journal of Experimental Medicine

Homozygous missense mutations in POLE1 caused an inherited disorder characterized by facial dysmorphism, immunodeficiency, livedo, and short stature.
DNA polymerase ε (Polε) is a large, four-subunit polymerase that is conserved throughout the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fdcf99dda80ba836a9eb9c79c649ad7
https://doi.org/10.1084/jem.20121303

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

Autor: Nizar Mahlaoui, Frédéric Rieux-Laucat, Geneviève de Saint Basile, Capucine Picard, Isabelle André-Schmutz, Jana Pachlopnik Schmid, Nadine Nehme, Alain Fischer, Patrick Lutz, Annick Lim, Patrick Nitschke, Franck Debeurme

Publikováno v: Blood
Europe PubMed Central

The molecular mechanisms that underlie T-cell quiescence are poorly understood. In the present study, we report a primary immunodeficiency phenotype associated with MST1 deficiency and primarily characterized by a progressive loss of naive T cells. T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::735ebda8b57698e801cc690b079c254c

Inherited defects in lymphocyte cytotoxic activity

Autor: Jana, Pachlopnik Schmid, Jana P, Schmid, Marjorie, Côte, Mickaël M, Ménager, Agathe, Burgess, Nadine, Nehme, Gaël, Ménasché, Alain, Fischer, Geneviève, de Saint Basile

Publikováno v: Immunological Reviews
Immunological Reviews, Wiley, 2010, 235 (1), pp.10-23. ⟨10.1111/j.0105-2896.2010.00890.x⟩
Immunological Reviews, 2010, 235 (1), pp.10-23. ⟨10.1111/j.0105-2896.2010.00890.x⟩

International audience; The granule-dependent cytotoxic activity of lymphocytes plays a critical role in the defense against virally infected cells and tumor cells. The importance of this cytotoxic pathway in immune regulation is evidenced by the sev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::184b8556477d75ee5ccd9c82e5e5de7d
https://www.hal.inserm.fr/inserm-02440308/file/Schmid_et_al-2010-Immunological_Reviews.pdf