Small-RNA-mediated transgenerational silencing of histone genes impairs fertility in piRNA mutants

Autor: Blaise Li, Martino Ugolini, Damarys Loew, Germano Cecere, Aleksei Samolygo, Céline Didier, Eric Cornes, Meetali Singh, Giorgia Barucci, Piergiuseppe Quarato, Florent Dingli

Publikováno v: Nature cell biology
Nature Cell Biology
Nature Cell Biology, Nature Publishing Group, 2020, 22 (2), pp.235-245. ⟨10.1038/s41556-020-0462-7⟩
Nature Cell Biology, 2020, 22 (2), pp.235-245. ⟨10.1038/s41556-020-0462-7⟩

International audience; PIWI-interacting RNAs (piRNAs) promote fertility in many animals. However, whether this is due to their conserved role in repressing repetitive elements (REs) remains unclear. Here, we show that the progressive loss of fertili

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::983b418c96155c11b9d0637d29c2e4f8
https://doi.org/10.1038/s41556-020-0462-7

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

Autor: Auriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, Blanca Gener, Isabelle Bailleul-Forestier, Isabelle Meyts, Guillaume Jouret, Bertrand Isidor, Carole Brewer, Wim Wuyts, Leen Moens, Selket Delafontaine, Wayne Wing Keung Lam, Kris Van Den Bogaert, Anneleen Boogaerts, Emmanuel Scalais, Thomas Besnard, Benjamin Cogne, Christophe Guissard, Paul Rollier, Wilfrid Carre, Regis Bouvet, Karin Tarte, Ricardo Gómez-Carmona, Pablo Lapunzina, Sylvie Odent, Marie Faoucher, Christele Dubourg, Víctor L. Ruiz-Pérez, Koen Devriendt, Laurent Pasquier, Luis A. Pérez-Jurado

Publikováno v: Genetics in Medicine
Genetics in Medicine, 2022, 24 (12), pp.2475-2486. ⟨10.1016/j.gim.2022.09.002⟩
Genetics in medicine

[Purpose]: We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene FOSL2, encoding a subunit of the AP-1 complex.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a9c2cb95f13c2d762c5435721f9e969
https://pubmed.ncbi.nlm.nih.gov/36197437

Amplification of Duffy binding protein-encoding gene allows Plasmodium vivax to evade host anti-DBP humoral immunity

Autor: Lenore L. Carias, Benoit Witkowski, Saorin Kim, Christopher L. King, Camille Roesch, Nimol Khim, Ivo Mueller, Chetan E. Chitnis, Jean Popovici, Amélie Vantaux

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-8 (2020)
Nature Communications
Nature Communications, Nature Publishing Group, 2020, 11 (1), pp.953. ⟨10.1038/s41467-020-14574-9⟩
Nature Communications, 2020, 11 (1), pp.953. ⟨10.1038/s41467-020-14574-9⟩

Antigenic variation, the capacity to produce a range of variable antigens, is a well-described strategy of Plasmodium and other parasites to evade host immunity. Here, we show that gene amplification is an additional evasion mechanism used by Plasmod

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cc00eb99965ad87ce36544f98cc6415
https://doaj.org/article/cf65b319fe4a4e48a9d32fb245c93fef

Antibodies Targeting KSHV gH/gL Reveal Distinct Neutralization Mechanisms

Autor: Anna Katharina Großkopf, Armin Ensser, Thomas Fricke, Alexander Hahn, Marija Backovic

Publikováno v: Viruses; Volume 14; Issue 3; Pages: 541
Viruses
Viruses, 2022, 14 (3), pp.541. ⟨10.3390/v14030541⟩

International audience; Kaposi’s sarcoma herpesvirus (KSHV) is associated with a significant disease burden, in particular in Sub-Sahara Africa. A KSHV vaccine would be highly desirable, but the mechanisms underlying neutralizing antibody responses

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c1196877a1e474d1c8fda1dc372b64c
https://pubmed.ncbi.nlm.nih.gov/35336948

Identification of Acer2 as a First Susceptibility Gene for Lithium-Induced Nephrogenic Diabetes Insipidus in Mice

Autor: Cungui Mao, Birgitte Mønster Christensen, Ron Korstanje, Alain Doucet, Karolina M. Andralojc, Benjamin E. Low, Roger Sandhoff, Peter M.T. Deen, Michael V. Wiles, Lydie Cheval, Lena K. Ebert, Theun de Groot, Ruben Baumgarten

Publikováno v: Journal of the American Society of Nephrology
Journal of the American Society of Nephrology, American Society of Nephrology, 2019, 30 (12), pp.2322-2336. ⟨10.1681/ASN.2018050549⟩
Journal of the American Society of Nephrology, 30, 2322-2336
de Groot, T, Ebert, L K, Christensen, B M, Andralojc, K, Cheval, L, Doucet, A, Mao, C, Baumgarten, R, Low, B E, Sandhoff, R, Wiles, M V, Deen, P M T & Korstanje, R 2019, ' Identification of Acer2 as a First Susceptibility Gene for Lithium-Induced Nephrogenic Diabetes Insipidus in Mice ', Journal of the American Society of Nephrology : JASN, vol. 30, no. 12, pp. 2322-2336 . https://doi.org/10.1681/ASN.2018050549
Journal of the American Society of Nephrology, 30, 12, pp. 2322-2336

Item does not contain fulltext BACKGROUND: Lithium, mainstay treatment for bipolar disorder, causes nephrogenic diabetes insipidus and hypercalcemia in about 20% and 10% of patients, respectively, and may lead to acidosis. These adverse effects devel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bc05a110cb73bf2c842309ccc785b12
https://doi.org/10.1681/asn.2018050549