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Genome complexity

Genetic variability in ADAM17/TACE is associated with sporadic Alzheimer’s disease risk, neuropsychiatric symptoms and cognitive performance on the Rey Auditory Verbal Learning and Clock Drawing Tests

Francesco Bruno, Mirella A. Aceto, Ersilia Paparazzo, Domenico Arcuri, Francesca Vozzo, Serena Mirante, Beatrice M. Greco, Teresa Serra Cassano, Paolo Abondio, Sonia Canterini, Antonio Malvaso, Alessandro Grecucci, Luigi Citrigno, Silvana Geracitano, Patrizia Spadafora, Gianfranco Puccio, Francesca Frangipane, Sabrina M. Curcio, Francesca Ferrise, Valentina Laganà, Rosanna Colao, Giuseppe Passarino, Amalia C. Bruni, Raffaele Maletta, Francesca Cavalcanti, Alberto Montesanto

published 06 May 2025

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Mapping the temporal transcriptomic signature of a viral pathogen through CAGE and nanopore sequencing

Dóra Tombácz, Balázs Kakuk, Gábor Torma, Ádám Fülöp, Ákos Dörmő, Gábor Gulyás, Zsolt Csabai, Zsolt Boldogkői

published 15 Apr 2025

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Fibroblast growth factor receptor 2 (FGFR2) genetic polymorphisms contribute to fused roots in human molars

Sandra Regina Santos Meyfarth, Flares Baratto-Filho, Maria Eduarda Nunis Locks, Peter Proff, Giordano Oliveira Zandoná, Thaís de Oliveira Fernandes, Paulo Henrique Condeixa de França, Christian Kirschneck, Leonardo Santos Antunes, Erika Calvano Küchler

published 10 Apr 2025

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The Arabidopsis thaliana core splicing factor PORCUPINE/SmE1 requires intron-mediated expression

Varvara Dikaya, Nelson Rojas-Murcia, Ruben Maximilian Benstein, Wolf L. Eiserhardt, Markus Schmid

published 26 Mar 2025

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Genomic analysis of bovine respiratory disease resistance in preweaned dairy calves diagnosed by a combination of clinical signs and thoracic ultrasonography

Maria G. Strillacci, Vincenzo Ferrulli, Francesca Bernini, Davide Pravettoni, Alessandro Bagnato, Ilaria Martucci, Antonio Boccardo

published 21 Mar 2025

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Trypanosomes lack a canonical EJC but possess an UPF1 dependent NMD-like pathway

Bernardo Papini Gabiatti, Eden Ribeiro Freire, Johanna Odenwald, Janaina de Freitas Nascimento, Fabiola Holetz, Mark Carrington, Susanne Kramer, Martin Zoltner

published 07 Mar 2025

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Mis-splicing drives loss of function of p53^E224D point mutation

Ian C. Lock, Nathan H. Leisenring, Warren Floyd, Eric S. Xu, Lixia Luo, Yan Ma, Erin C. Mansell, Diana M. Cardona, Chang-Lung Lee, David G. Kirsch

published 05 Mar 2025

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Impact of β-defensin 103 (DEFB103) copy number variation on bull sperm parameters and post-insemination uterine gene expression

Ozge Sidekli, Edward J. Hollox, Sean Fair, Kieran G. Meade

published 25 Feb 2025

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Enrichment of rare CFTR variants in Finnish patients with congenital chloride diarrhea

Satu Wedenoja, Jarmo Ritari, Jukka Partanen, Juha Kere, Kaija-Leena Kolho

published 24 Feb 2025

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Leveraging large language models for data analysis automation

Jacqueline A. Jansen, Artür Manukyan, Nour Al Khoury, Altuna Akalin

published 21 Feb 2025

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PCK1 and SLC22A2 gene variants associated with response to metformin treatment in type 2 diabetes

Sophie St-Amour, Laurence Tessier, Janie Harnois, Catherine Allard, Alexandre Lavoie, Philippe Caron, Luigi Bouchard, Patrice Perron, Karine Tremblay

published 10 Feb 2025

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Genetic insights into the risk of hip osteoarthritis on stroke: A single-variable and multivariable Mendelian randomization

Zhengze Zhang, Yanan Lian, Yuewen He, Hao Liu, Kai Meng, Yong Wang, Wuhua Ma

published 09 Jan 2025

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Plasmodium falciparum surf_4.1 in clinical isolates: From genetic variation and variant diversity to in silico design immunopeptides for vaccine development

Nitchakarn Noranate, Jariya Sripanomphong, Fingani Annie Mphande- Nyasulu, Suwanna Chaorattanakawee

published 30 Dec 2024

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