Zobrazeno 1 - 10
of 662
pro vyhledávání: '"MESH: DNA-Binding Proteins"'
Autor:
I K Temple, Sandra Chantot-Bastaraud, Jose María Lloreda-García, Maria Olmo-Sanchez, Cristina De la Torre-Sandoval, Jose Ramón Fernández-Fructuoso, Madeleine D. Harbison, Irene Netchine
Publikováno v:
Clinical Dysmorphology
Clinical Dysmorphology, 2021, 30 (4), pp.194-196. ⟨10.1097/MCD.0000000000000375⟩
Clinical Dysmorphology, 2021, 30 (4), pp.194-196. ⟨10.1097/MCD.0000000000000375⟩
Silver Russell syndrome (SRS) is a congenital disorder characterised by intrauterine growth retardation (IUGR), feeding difficulties and postnatal growth retardation. In a small number of cases PLAG1 variants have been described (OMIM #618907). PLAG1
Autor:
Estelle Vincendeau, Wenming Wei, Xuefei Zhang, Cyril Planchais, Wei Yu, Hélène Lenden-Hasse, Thomas Cokelaer, Juliana Pipoli da Fonseca, Hugo Mouquet, David J. Adams, Frederick W. Alt, Stephen P. Jackson, Gabriel Balmus, Chloé Lescale, Ludovic Deriano
Publikováno v:
Nature Communications
Nature Communications, 2022, 13 (1), pp.3707. ⟨10.1038/s41467-022-31287-3⟩
Nature Communications, 2022, 13 (1), pp.3707. ⟨10.1038/s41467-022-31287-3⟩
Funder: Ligue Nationale Contre le Cancer
SHLD1 is part of the Shieldin (SHLD) complex, which acts downstream of 53BP1 to counteract DNA double-strand break (DSB) end resection and promote DNA repair via non-homologous end-joining (NHEJ). While 5
SHLD1 is part of the Shieldin (SHLD) complex, which acts downstream of 53BP1 to counteract DNA double-strand break (DSB) end resection and promote DNA repair via non-homologous end-joining (NHEJ). While 5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6552ddce6e8fcc03619460c08b3e7d7a
Autor:
Mehdi Totonchi, Mehri Mashayekhi, Ken McElreavey, Navid Almadani, Anu Bashambou, Arvand Akbari, Kimiya Padidar, Najmeh Salehi, Mohammad Ali Sadighi Gilani
Publikováno v:
Human Reproduction
Human Reproduction, 2021, 36 (4), pp.1134-1145. ⟨10.1093/humrep/deaa362⟩
Human Reproduction, Oxford University Press (OUP), 2021, 36 (4), pp.1134-1145. ⟨10.1093/humrep/deaa362⟩
Human Reproduction, 2021, 36 (4), pp.1134-1145. ⟨10.1093/humrep/deaa362⟩
Human Reproduction, Oxford University Press (OUP), 2021, 36 (4), pp.1134-1145. ⟨10.1093/humrep/deaa362⟩
STUDY QUESTIONCan whole-exome sequencing (WES) reveal a shared pathogenic variant responsible for primary gonadal failure in both male and female patients from a consanguineous family?SUMMARY ANSWERPatients with primary ovarian insufficiency (POI) an
Publikováno v:
Movement Disorders
Movement Disorders, Wiley, 2020, 35 (12), pp.2139-2149. ⟨10.1002/mds.28307⟩
Movement Disorders, 2020, 35 (12), pp.2139-2149. ⟨10.1002/mds.28307⟩
Movement Disorders, Wiley, 2020, 35 (12), pp.2139-2149. ⟨10.1002/mds.28307⟩
Movement Disorders, 2020, 35 (12), pp.2139-2149. ⟨10.1002/mds.28307⟩
International audience; alpha-Fetoprotein (AFP) is a biomarker of several autosomal recessive cerebellar ataxias (ARCAs), especially ataxia telangiectasia (AT) and ataxia with oculomotor apraxia (AOA) type 2 (AOA2). More recently, slightly elevated A
Autor:
Valentina Lukinović, Simone Hausmann, Gael S. Roth, Clement Oyeniran, Tanveer Ahmad, Ning Tsao, Joshua R. Brickner, Alexandre G. Casanova, Florent Chuffart, Ana Morales Benitez, Jessica Vayr, Rebecca Rodell, Marianne Tardif, Pascal W.T.C. Jansen, Yohann Couté, Michiel Vermeulen, Pierre Hainaut, Pawel K. Mazur, Nima Mosammaparast, Nicolas Reynoird
Publikováno v:
Cancer Discovery
Cancer Discovery, In press, ⟨10.1158/2159-8290.CD-21-0205⟩
Cancer Discovery, 12, 2158-2179
Cancer Discovery, 12, 9, pp. 2158-2179
Cancer Discovery, In press, ⟨10.1158/2159-8290.CD-21-0205⟩
Cancer Discovery, 12, 2158-2179
Cancer Discovery, 12, 9, pp. 2158-2179
Small cell lung cancer (SCLC) is the most fatal form of lung cancer, with dismal survival, limited therapeutic options, and rapid development of chemoresistance. We identified the lysine methyltransferase SMYD3 as a major regulator of SCLC sensitivit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4a6f369ad5cbcb85ed2d339d7aa9050
https://cnrs.hal.science/hal-03759864/document
https://cnrs.hal.science/hal-03759864/document
Autor:
Alexandre G. Casanova, Li-Sheng Zhang, Ning Tsao, Brittany A. Townley, Nima Mosammaparast, Joshua R. Brickner, Chuan He, John A. Tainer, Rebecca Rodell, Tanveer Ahmad, Matthew D. Wood, Hua Sun, Jennifer M. Soll, Nicolas Reynoird, Clement Oyeniran, Alessandro Vindigni, Adit Ganguly, Albino Bacolla, Valentina Lukinović
Publikováno v:
Mol Cell
Molecular Cell
Molecular Cell, 2021, 81 (20), pp.4228-4242.e8. ⟨10.1016/j.molcel.2021.09.024⟩
Molecular Cell
Molecular Cell, 2021, 81 (20), pp.4228-4242.e8. ⟨10.1016/j.molcel.2021.09.024⟩
International audience; Summary Central to genotoxic responses is their ability to sense highly specific signals to activate the appropriate repair response. We previously reported that the activation of the ASCC-ALKBH3 repair pathway is exquisitely
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b22341f9c122e9653e82bea7080278c0
https://europepmc.org/articles/PMC8931856/
https://europepmc.org/articles/PMC8931856/
Autor:
de Krijger, Inge, Föhr, Bastian, Pérez, Santiago Hernández, Vincendeau, Estelle, Serrat, Judit, Thouin, Alexander Marc, Susvirkar, Vivek, Lescale, Chloé, Paniagua, Inés, Hoekman, Liesbeth, Kaur, Simranjeet, Altelaar, Maarten, Deriano, Ludovic, Faesen, Alex C, Jacobs, Jacqueline J L, Afd Biomol.Mass Spect. and Proteomics, Biomolecular Mass Spectrometry and Proteomics
Publikováno v:
Nature Communications
Nature Communications, Nature Publishing Group, 2021, 12 (1), pp.5421. ⟨10.1038/s41467-021-25724-y⟩
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Nature Communications, 12(1). Nature Publishing Group
Nature Communications, 2021, 12 (1), pp.5421. ⟨10.1038/s41467-021-25724-y⟩
Nature Communications, Nature Publishing Group, 2021, 12 (1), ⟨10.1038/s41467-021-25724-y⟩
Nature Communications, Nature Publishing Group, 2021, 12 (1), pp.5421. ⟨10.1038/s41467-021-25724-y⟩
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Nature Communications, 12(1). Nature Publishing Group
Nature Communications, 2021, 12 (1), pp.5421. ⟨10.1038/s41467-021-25724-y⟩
Nature Communications, Nature Publishing Group, 2021, 12 (1), ⟨10.1038/s41467-021-25724-y⟩
MAD2L2 (REV7) plays an important role in DNA double-strand break repair. As a member of the shieldin complex, consisting of MAD2L2, SHLD1, SHLD2 and SHLD3, it controls DNA repair pathway choice by counteracting DNA end-resection. Here we investigated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e0eef28d1f10f82de63f851b152c960
https://hdl.handle.net/21.11116/0000-000A-7D73-921.11116/0000-000A-7D6F-F
https://hdl.handle.net/21.11116/0000-000A-7D73-921.11116/0000-000A-7D6F-F
Autor:
Louis Olagne, Ludovic Trefond, Fanny Beltzung, Olivier Aumaître, A. Bardy, Marc André, Perrine Smets
Publikováno v:
Rheumatology
Rheumatology, Oxford University Press (OUP), 2021, 60 (5), pp.e165-e166. ⟨10.1093/rheumatology/keaa740⟩
Rheumatology, 2021, 60 (5), pp.e165-e166. ⟨10.1093/rheumatology/keaa740⟩
Rheumatology, Oxford University Press (OUP), 2021, 60 (5), pp.e165-e166. ⟨10.1093/rheumatology/keaa740⟩
Rheumatology, 2021, 60 (5), pp.e165-e166. ⟨10.1093/rheumatology/keaa740⟩
Letter; International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34e66eced46658a9495fe22a5c48539b
https://hal.inrae.fr/hal-03294426
https://hal.inrae.fr/hal-03294426
Publikováno v:
Single Stranded DNA Binding Proteins
Single Stranded DNA Binding Proteins, 2281, Springer US; Springer US, pp.23-47, 2021, Methods in Molecular Biology, 978-1-07-161290-3. ⟨10.1007/978-1-0716-1290-3_2⟩
Methods in Molecular Biology ISBN: 9781071612897
Single Stranded DNA Binding Proteins, 2281, Springer US; Springer US, pp.23-47, 2021, Methods in Molecular Biology, 978-1-07-161290-3. ⟨10.1007/978-1-0716-1290-3_2⟩
Methods in Molecular Biology ISBN: 9781071612897
International audience; Single-stranded (ss) DNA-binding proteins are found in all three domains of life where they play vital roles in nearly all aspects of DNA metabolism by binding to and stabilizing exposed ssDNA and acting as platforms onto whic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64cfddb15a8fe9bcf38ea2bb8db73dfc
https://hal-pasteur.archives-ouvertes.fr/pasteur-03682183/document
https://hal-pasteur.archives-ouvertes.fr/pasteur-03682183/document
Autor:
Guillaume Velasco, Damien Ulveling, Sophie Rondeau, Pauline Marzin, Motoko Unoki, Valérie Cormier-Daire, Claire Francastel
Publikováno v:
International Journal of Molecular Sciences
Volume 22
Issue 7
International Journal of Molecular Sciences, 2021, 22 (7), pp.3735. ⟨10.3390/ijms22073735⟩
International Journal of Molecular Sciences, MDPI, 2021, 22 (7), pp.3735. ⟨10.3390/ijms22073735⟩
International Journal of Molecular Sciences, Vol 22, Iss 3735, p 3735 (2021)
Volume 22
Issue 7
International Journal of Molecular Sciences, 2021, 22 (7), pp.3735. ⟨10.3390/ijms22073735⟩
International Journal of Molecular Sciences, MDPI, 2021, 22 (7), pp.3735. ⟨10.3390/ijms22073735⟩
International Journal of Molecular Sciences, Vol 22, Iss 3735, p 3735 (2021)
International audience; DNA methylation (DNAme) profiling is used to establish specific biomarkers to improve the diagnosis of patients with inherited neurodevelopmental disorders and to guide mutation screening. In the specific case of mendelian dis