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2020

International refereed journal articles

21 - 

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

Gerarda Cappuccio, Camille Sayou, Pauline Le Tanno, Emilie Tisserant, Ange-Line Bruel, Sara El Kennani, Joaquim Sá, Karen Low, Cristina Dias, Marketa Havlovicova, Miroslava Hančárová, Evan Eichler, Françoise Devillard, Sébastien Moutton, Julien Van-Gils et al.

Genetics in Medicine, 2020, 22 (11), pp.1838-1850.

DOI : https://doi.org/10.1038/s41436-020-0898-y

Pubmed : 32694869

 

22 - 

The hydroxymethylome of multiple myeloma identifies FAM72D as a 1q21 marker linked to proliferation

Fabrice Chatonnet, Amandine Pignarre, Aurelien Serandour, Gersende Caron, Stéphane Avner, Nicolas Robert, Alboukadel Kassambara, Audrey Laurent, Maud Bizot, Xabier Agirre, Felipe Prosper, José Martin-Subero, Jerome Moreaux, Thierry Fest, Gilles Salbert et al.

Haematologica, 2020, 105 (3), pp.774-783.

DOI : https://doi.org/10.3324/haematol.2019.222133

Pubmed : 31221779

 

23 - 

Cytosine methylation of mature microRNAs inhibits their functions and is associated with poor prognosis in glioblastoma multiforme

Mathilde Cheray, Amandine Etcheverry, Camille Jacques, Romain Pacaud, Gwenola Bougras-Cartron, Marc Aubry, Florent Denoual, Pierre Peterlongo, Arulraj Nadaradjane, Josephine Briand, Farida Akcha, Dominique Heymann, François M Vallette, Jean Mosser, Benjamin Ory et al.

Molecular Cancer, 2020, 19 (1), pp.1-36.

DOI : https://doi.org/10.1186/s12943-020-01155-z

Pubmed : 32098627

 

24 - 

The prefoldin complex stabilizes the von Hippel-Lindau protein against aggregation and degradation

Franck Chesnel, Anne Couturier, Adrien Alusse, Jean-Philippe Gagné, Guy G Poirier, Dominique Jean, François-Michel Boisvert, Pauline Hascoet, Luc Paillard, Yannick Arlot-Bonnemains, Xavier Le Goff

PLoS Genetics, 2020, 16 (11), pp.e1009183.

DOI : https://doi.org/10.1371/journal.pgen.1009183

Pubmed : 33137104

 

25 - 

Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing

Auriane Cospain, Christèle Dubourg, Swellen Gastineau, Samia Pichard, Virginie Gandemer, Jacinthe Bonneau, Marie de Tayrac, Caroline Moreau, Sylvie Odent, Laurent Pasquier, Léna Damaj, Alinoë Lavillaureix

Molecular Genetics and Metabolism Reports, 2020, 24, pp.100621.

DOI : https://doi.org/10.1016/j.ymgmr.2020.100621

Pubmed : 32670797

 

26 - 

USF1 defect drives p53 degradation during Helicobacter pylori infection and accelerates gastric carcinogenesis La déficience de USF1 favorise la dégradation de p53 au cours de l'infection par Helicobacter pylori et accélère la cancérogenèse gastrique

Lionel Costa, Sébastien Corre, Valérie Michel, Krysten Le Luel, Julien Fernandes, Jason Ziveri, Grégory Jouvion, Anne Danckaert, Nicolas Mouchet, David da Silva Barreira, Javier Torres, Margarita Camorlinga, Mario Milco d'Elios, Laurence Fiette, Hilde de Reuse et al.

USF1 defect drives p53 degradation during Helicobacter pylori infection and accelerates gastric carcinogenesis. Gut, 2020, 69 (9), pp.1582-1591.

DOI : https://doi.org/10.1136/gutjnl-2019-318640

Pubmed : 31822580

 

27 - 

Alteration of SC35 localization by transfection reagents

A.P. Damodaran, T. Courthéoux, Erwan Watrin, Claude Prigent

Biochimica et Biophysica Acta - Molecular Cell Research, 2020, 1867 (4), pp.118650.

DOI : https://doi.org/10.1016/j.bbamcr.2020.118650

Pubmed : 31953060

 

28 - 

Loss of UNC45A causes microvillus inclusion disease-like by impairing myosin-dependent epithelial morphogenesis

R. Duclaux-Loras, F. Charbit-Henrion, C. Lebreton, O. Nicolle, M. Rabant, C. Guerrera, Aude Fabre, L. Faivre, Grégoire Michaux, H. Uligh, F. Ruemmele, Nadine N. Cerf-Bensussan, M. Parlato

European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.76-77.

 

29 - 

Lost in the Crowd: How Does Human 8-Oxoguanine DNA Glycosylase 1 (OGG1) Find 8-Oxoguanine in the Genome?

Ostiane D’augustin, Sébastien Huet, Anna Campalans, Juan Pablo Radicella

International Journal of Molecular Sciences, 2020, 21 (21),

DOI : https://doi.org/10.3390/ijms21218360

Pubmed : 33171795

 

30 - 

Predictive System of Semiconductor Failures based on Machine Learning Approach

Yousef El Mourabit, Youssef El Habouz, Hicham Zougagh, Younes Wadiai

International journal of advanced computer science and applications (IJACSA), 2020, 11 (12), pp.199-203.

DOI : https://doi.org/10.14569/IJACSA.2020.0111225