Results 21 to 30 of about 9,068 (100)

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Vine copula knockoffs for variable selection in gene expression studies

Canadian Journal of Statistics, EarlyView.
Abstract Identifying clinical and genetic markers is essential for stratifying cancer patients by survival outcomes and guiding personalized treatment strategies. However, gene expression studies often involve high‐dimensional predictors with mixed data types and complex dependence, which complicates reliable variable selection.
José Ulises Márquez Urbina, Alejandro Román Vásquez, Graciela González Farías, Gabriel Escarela   +3 more
wiley   +1 more source

Utilisation de microsatellites comme marqueurs génomiques pour l’étude de la résistance à la cowdriose

Revue d’Elevage et de Médecine Vétérinaire des Pays Tropicaux, 1993
Les chèvres Créole de Guadeloupe sont considérées comme appartenant à une même race. Néanmoins, selon leur origine géographique, elles peuvent être résistantes ou sensibles à la cowdriose. Une étude antérieure a montré que la résistance est probablement
L. Pépin, Emmanuel Camus, Gérard Matheron, Albert Bensaïd   +3 more
doaj   +1 more source

Modular Polymers With Tuneable Charge and Amphiphilicity for Effective Antimicrobial Photodynamic Therapy

Macromolecular Rapid Communications, EarlyView.
A modular dual‐strategy platform combining free radical copolymerisation and post‐polymerisation modification yields a library of ruthenium‐functionalised polymers for antimicrobial photodynamic therapy. Tuneable composition and net charge govern activity against multidrug‐resistant Pseudomonas aeruginosa biofilms and Staphylococcus aureus under ...
Ali Balasini, Jannik Fryn, Margaux Bonnardot, Jérémy Godard, Tristan Montier, Gilles Lemercier, Franck Thétiot, Tony Le Gall, Ulrich Jonas   +8 more
wiley   +1 more source

Herbaria as repositories of past soil properties and historical soil DNA

PLANTS, PEOPLE, PLANET, EarlyView.
Soil health is fundamental to agriculture, food security, and the sustainable management of terrestrial ecosystems under ongoing climate and land‐use changes. Soil microorganisms play a key role in these processes, yet how soils and their microbial communities have changed over time in response to global environmental change remains poorly understood ...
Gianluca Grasso, Régis Debruyne, Martino Adamo, Eva Perez Pimparé, Olivier Rué, Naoise Nunan, Valeria Bianciotto, Roland Marmeisse   +7 more
wiley   +1 more source

Mechanism‐Guided Engineering of Upconversion Nanoparticles for Antibacterial Phototherapy: From Photonic Principles to Translational Nanosystems

Small, EarlyView.
This review provides a systematic overview of the field of antibacterial PhotoDynamic Therapy (aPDT) triggered by upconversion nanoparticles (UCNPs), focusing on the mechanisms and the key factors that define their efficacy for generating bactericidal species upon NIR‐light activation.
Zhe Li, Calum Johnston, Barbara Lonetti, Clément Roux   +3 more
wiley   +1 more source

Déficit congénital en facteur VII de coagulation: à propos de deux cas familiaux

The Pan African Medical Journal, 2018
Le déficit en facteur VII est rare, sa prévalence est estimée à 1/1.000.000. Sa transmission est autosomique récessive. L'expression peut aller de la simple épistaxis à l'hémorragie cérébrale.
Noufissa Benajiba, Anass Ayyad, Rim Amrani, Maria Rkain, Mohammed Benajiba   +4 more
doaj   +1 more source

Sperm aneuploidy and DNA fragmentation in unexplained recurrent pregnancy loss: a multicenter case-control study

Basic and Clinical Andrology, 2018
Résumé Contexte Les fausses couches à répétition (FCR) sont définies lorsqu’au moins trois fausses couches ont eu lieu au cours du premier trimestre. Bien que la cause la plus fréquente soit l’aneuploïdie embryonnaire, et malgré un bilan chez la femme et
Camille Esquerré-Lamare, Marie Walschaerts, Lucie Chansel Debordeaux, Jessika Moreau, Florence Bretelle, François Isus, Gilles Karsenty, Laetitia Monteil, Jeanne Perrin, Aline Papaxanthos-Roche, Louis Bujan   +10 more
doaj   +1 more source

A CCNA1 Missense Variant Associated With Chromatid Non‐Disjunction in Abnormal‐Headed Sperm and Male Infertility

Andrology, EarlyView.
ABSTRACT Background Macrozoospermia is a rare form of teratozoospermia characterized by tetraploids, large‐headed spermatozoa with multiple flagella, usually caused by bi‐allelic AURKC mutations. The etiology of atypical phenotypes with a lower proportion of large headed spermatozoa and single flagella however often remains unresolved.
Aurore Perrin, Frédéric Morel, Zeina Wehbe, Cynthia Frapsauce, Nadia Gueganic, Corinne Tous, Séverine Commet, Laura Dijols, Audrey Basinko, Nathalie Douet‐Guilbert, Célia Tebbakh, Zine‐Eddine Kherraf, Pierre F. Ray, Charles Coutton, Guillaume Martinez   +14 more
wiley   +1 more source

Distinct Molten‐Globule Conformations in an Interacting Protein Domain Resolved by 19F NMR of Fluoroproline Residues

Angewandte Chemie, Volume 138, Issue 42, 12 October 2026.
Modifying the conformational ensemble of “molten‐globule” protein by the site‐specific incorporation of stereoisomeric 4‐fluoroproline residues modulated its binding affinity and aggregation behavior. 19F NMR spectroscopy enabled the detection of key interactions responsible for structural and dynamic changes. ABSTRACT Recently, the application of deep
Abir Ben Bouzayene, Mariam Sai, Alexis Jouin, Yves Nominé, Vladimir Torbeev, Bruno Kieffer   +5 more
wiley   +2 more sources