keyword
https://read.qxmd.com/read/38184654/correction-rare-predicted-loss-of-function-variants-of-type-i-ifn-immunity-genes-are-associated-with-life-threatening-covid-19
#21
Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T Bryceson, Ingrid G Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E Covill, Ottavia M Delmonte, Loubna El Zein, Carlos Flores, Peter K Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M Alsohime, Hagit Baris-Feldman, Manish J Butte, Stefan N Constantinescu, Megan A Cooper, Clifton L Dalgard, Jacques Fellay, James R Heath, Yu-Lung Lau, Richard P Lifton, Tom Maniatis, Trine H Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D Notarangelo, Stephanie Boisson-Dupuis, Helen C Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat
No abstract text is available yet for this article.
January 6, 2024: Genome Medicine
https://read.qxmd.com/read/38172507/how-local-reference-panels-improve-imputation-in-french-populations
#22
JOURNAL ARTICLE
Anthony F Herzig, Lourdes Velo-Suárez, Christian Dina, Richard Redon, Jean-François Deleuze, Emmanuelle Génin
Imputation servers offer the exclusive possibility to harness the largest public reference panels which have been shown to deliver very high precision in the imputation of European genomes. Many studies have nonetheless stressed the importance of 'study specific panels' (SSPs) as an alternative and have shown the benefits of combining public reference panels with SSPs. But such combined approaches are not attainable when using external imputation servers. To investigate how to confront this challenge, we imputed 550 French individuals using either the University of Michigan imputation server with the Haplotype Reference Consortium (HRC) panel or an in-house SSP of 850 whole-genome sequenced French individuals...
January 3, 2024: Scientific Reports
https://read.qxmd.com/read/38141157/the-ceph-aging-cohort-and-biobank-a-valuable-collection-of-biological-samples-from-exceptionally-long-lived-french-individuals-and-their-offspring-for-longevity-studies
#23
JOURNAL ARTICLE
Alexandre How-Kit, Mourad Sahbatou, Lise M Hardy, Nicolas P Tessier, Valérie Schiavon, Hélène Le Buanec, Jean-Marc Sebaoun, Hélène Blanché, Jean-François Zagury, Jean-François Deleuze
The increasing aging of the human population is currently and for the coming decades a major public health issue in many countries, requiring the implementation of global public health policies promoting healthy and successful aging. Individuals are not equal in the face of aging and some can present exceptional healthspan and/or lifespan, which are notably influenced by both genetic and environmental factors. Research and studies on human aging, healthy aging and longevity should rely in particular on cohorts of long-lived individuals, also including biological samples allowing studies on the biology of aging and longevity...
December 23, 2023: GeroScience
https://read.qxmd.com/read/38090154/circulating-cell-free-nucleic-acids-of-plasma-in-human-aging-healthy-aging-and-longevity-current-state-of-knowledge
#24
REVIEW
Nicolas P Tessier, Lise M Hardy, Jean-François Deleuze, Alexandre How-Kit
Circulating cell-free nucleic acids (ccfNAs) of plasma are a remarkable source of genetic, epigenetic and transcriptomic materials originating from different cells, tissues and organs of an individual. They have been increasingly studied over the past decade as they can carry several important pieces of information about the health status of an individual, which makes them biomarkers of choice for non-invasive diagnosis of numerous diseases and health conditions. However, few studies have investigated variations of plasma ccfNAs in healthy subjects, particularly in relation to aging, healthy aging and longevity, despite the great variability of these biological processes among individuals...
2023: Frontiers in Genetics
https://read.qxmd.com/read/38070350/highly-efficient-and-sensitive-membrane-based-concentration-process-allows-quantification-surveillance-and-sequencing-of-viruses-in-large-volumes-of-wastewater
#25
JOURNAL ARTICLE
G El Soufi, L Di Jorio, Z Gerber, N Cluzel, J Van Assche, D Delafoy, R Olaso, C Daviaud, T Loustau, C Schwartz, D Trebouet, O Hernalsteens, V Marechal, S Raffestin, D Rousset, C Van Lint, J F Deleuze, M Boni, O Rohr, M Villain-Gambier, C Wallet
Wastewater-based epidemiology is experiencing exponential development. Despite undeniable advantages compared to patient-centered approaches (cost, anonymity, survey of large populations without bias, detection of asymptomatic infected peoples…), major technical limitations persist. Among them is the low sensitivity of the current methods used for quantifying and sequencing viral genomes from wastewater. In situations of low viral circulation, during initial stages of viral emergences, or in areas experiencing heavy rains, the extremely low concentrations of viruses in wastewater may fall below the limit of detection of the current methods...
December 3, 2023: Water Research
https://read.qxmd.com/read/38069100/early-castration-in-horses-does-not-impact-osteoarticular-metabolism
#26
JOURNAL ARTICLE
Marion Rouge, Florence Legendre, Razan Elkhatib, Christelle Delalande, Juliette Cognié, Fabrice Reigner, Philippe Barrière, Stefan Deleuze, Vincent Hanoux, Philippe Galéra, Hélène Bouraïma-Lelong
The castration of stallions is traditionally performed after puberty, at around the age of 2 years old. No studies have focused on the effects of early castration on osteoarticular metabolism. Thus, we aimed to compare early castration (3 days after birth) with traditional castration (18 months of age) in horses. Testosterone and estradiol levels were monitored from birth to 33 months in both groups. We quantified the levels of biomarkers of cartilage and bone anabolism (CPII and N-MID) and catabolism (CTX-I and CTX-II), as well as of osteoarthritis (HA and COMP) and inflammation (IL-6 and PGE2 )...
November 26, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/38062860/vanishing-academics-on-the-importance-of-speed-and-becoming-imperceptible
#27
JOURNAL ARTICLE
Pier-Luc Turcotte, Dave Holmes
Under the influence of neoliberalism, academic work faces mounting pressure to align with imperatives of visibility and perceptibility. Traditionally criticised for working in isolated 'ivory towers', academics are now compelled to showcase the societal value of their work through performance metrics and evaluations. Paradoxically, these efforts have unintentionally led to the rigidification and commodification of academic work, stifling the production of knowledge beyond predefined parameters. In this paper, we contend that academics should resist the imposition of this neoliberal 'grid' and instead seek a path of 'becoming-imperceptible', drawing inspiration from the insights of Deleuze and Guattari...
December 7, 2023: Nursing Inquiry
https://read.qxmd.com/read/38045203/the-life-of-the-cell-membrane-a-paradigmatic-reading-from-deleuze-and-guattari
#28
JOURNAL ARTICLE
Rafael Maria Zamora-Prieto, Jorge Francisco Maldonado-Serrano, William González-Calderón
While the Fluid Mosaic model (FMM) is widely accepted as an account of the cell membrane's structure-function, its inability to explain certain phenomena has led to the lipid rafts hypothesis (nanodomains) that spontaneous spatiotemporal enriched zones of sphingolipids-cholesterol-protein exist within the membrane. In this text, we propose a novel approach that conceives the cell membrane as a living entity. The questions regarding the FMM revolve around the fact that, although these molecular components are present in many cell types, the membrane does not react in the same way to every external agent; for example, a virus evokes a particular response: why is there some marked specificity of virus (or toxin) attack on one (or some) of these cell types and not to other cell types that nevertheless have a similar membrane protein constitution? The crucial question, to explain this selectivity, would be what determines the specificity of attack on some cells and not others? While FMN assumes a dynamism between macrostates at the intramolecular, intermolecular, and/or collective levels in the membrane, the approach of the lipid raft model presupposes a much greater and more complex dynamics of microstates (even nano-states) of these molecular components...
November 2023: Heliyon
https://read.qxmd.com/read/38032761/the-seductions-of-identity-thinking-about-identity-and-transgender
#29
JOURNAL ARTICLE
Alessandra Lemma
In this paper I first outline a conceptual compass to think about identity generally before addressing more specifically the question of transgender identity. To this end, I draw on Gilles Deleuze's (1993) related concepts of the rhizome and of the fold. I then argue that the body has always been and is ever-more-so the place for figurating the self, for finding and substantiating identity-hence, the unconscious psychic investments that we have in our bodies are key to our theorizing about any kind of identity...
2023: Psychoanalytic Quarterly
https://read.qxmd.com/read/38030146/the-mediating-effects-of-perceived-family-support-in-the-relationship-between-anxiety-and-problematic-smartphone-use-a-cross-cultural-validation
#30
JOURNAL ARTICLE
Jiang Long, Yueheng Liu, Yingying Wang, Aurore Pottié, Aurélien Cornil, Jory Deleuze, Qiuxia Wu, Shubao Chen, Yuejiao Ma, Qianjin Wang, Yuzhu Hao, Jing Lu, Ilinca-Gabriela Radu, Tieqiao Liu, Joël Billieux
Problematic smartphone use (PSU) is frequently considered a public health issue, especially in East Asia and Europe. Yet, there is a paucity of research focusing on cultural and familial determinants of PSU. This cross-cultural study aimed to investigate smartphone usage patterns and possible mediating effects of perceived family support (PFS) from a stress-coping perspective. Convenience samples of 790 Chinese and 439 Belgian undergraduates completed an online survey that focused on sociodemographics and psychological variables (i...
November 27, 2023: Journal of Nervous and Mental Disease
https://read.qxmd.com/read/38012230/author-correction-elevated-plasma-complement-factor-h-related-5-protein-is-associated-with-venous-thromboembolism
#31
Maria Jesus Iglesias, Laura Sanchez-Rivera, Manal Ibrahim-Kosta, Clément Naudin, Gaëlle Munsch, Louisa Goumidi, Maria Farm, Philip M Smith, Florian Thibord, Julia Barbara Kral-Pointner, Mun-Gwan Hong, Pierre Suchon, Marine Germain, Waltraud Schrottmaier, Philip Dusart, Anne Boland, David Kotol, Fredrik Edfors, Mine Koprulu, Maik Pietzner, Claudia Langenberg, Scott M Damrauer, Andrew D Johnson, Derek M Klarin, Nicholas L Smith, David M Smadja, Margareta Holmström, Maria Magnusson, Angela Silveira, Mathias Uhlén, Thomas Renné, Angel Martinez-Perez, Joseph Emmerich, Jean-Francois Deleuze, Jovan Antovic, Jose Manuel Soria Fernandez, Alice Assinger, Jochen M Schwenk, Joan Carles Souto Andres, Pierre-Emmanuel Morange, Lynn Marie Butler, David-Alexandre Trégouët, Jacob Odeberg
No abstract text is available yet for this article.
November 27, 2023: Nature Communications
https://read.qxmd.com/read/37954429/sars-cov-2-seroprevalence-in-french-9-year-old-children-and-their-parents-after-the-first-lockdown-in-2020
#32
JOURNAL ARTICLE
Marie Aline Charles, Pierre-Yves Ancel, Thierry Simeon, Laetitia Marchand-Martin, Cécile Zaros, Marie-Noelle Dufourg, Valérie Benhamou, Hélène Blanché, Jean-François Deleuze, Delphine Rahib, Nathalie Lydie, Xavier de Lamballerie, Fabrice Carrat
INTRODUCTION: Children have been significantly less affected by COVID-19 than adults and presented with milder and less symptomatic forms of the disease. However, there has been suggestion that children older than 10 years and adolescents exhibits features closer to that of young adults. Most studies combine children in different age-groups and lack sufficient numbers to explore in detail age specificities. We report data on a population-based sample of 2,555 children at the pivotal age of 9 years...
2023: Frontiers in Pediatrics
https://read.qxmd.com/read/37947824/kraft-black-liquor-as-a-carbonaceous-source-for-the-generation-of-porous-monolithic-materials-and-applications-toward-hydrogen-adsorption-and-ultrastable-supercapacitors
#33
JOURNAL ARTICLE
Romain Poupart, Ronan Invernizzi, Liliane Guerlou-Demourgues, Jacob Olchowka, Marie-Anne Dourges, Jean-Louis Bobet, Hervé Deleuze, Rénal Backov
High internal phase emulsions (HIPEs) have templated self-standing porous carbonaceous materials (carboHIPEs) while employing Kraft Black Liquor, a paper milling industry byproduct, as a carbon precursor source. As such, the starting emulsion has been prepared through a laboratory-made homogenizer, while native materials have been characterized at various length scales either with Raman spectrometry, X-ray diffraction (XRD), mercury intrusion porosimetry, and nitrogen absorption. After thermal carbonization, specific surface areas ranging from ∼600 m2 g-1 to 1500 m2 g-1 have been reached while maintaining a monolithic character...
November 10, 2023: Langmuir: the ACS Journal of Surfaces and Colloids
https://read.qxmd.com/read/37888205/inverse-modulation-of-aurora-kinase-a-and-topoisomerase-ii%C3%AE-in-normal-and-tumor-breast-cells-upon-knockdown-of-mitochondrial-asncmtrna
#34
JOURNAL ARTICLE
Maximiliano F Bendek, Christopher Fitzpatrick, Emanuel Jeldes, Anne Boland, Jean-François Deleuze, Nicole Farfán, Jaime Villegas, Gino Nardocci, Martín Montecino, Luis O Burzio, Verónica A Burzio
Breast cancer is currently the most diagnosed form of cancer and the leading cause of death by cancer among females worldwide. We described the family of long non-coding mitochondrial RNAs (ncmtRNAs), comprised of sense (SncmtRNA) and antisense (ASncmtRNA) members. Knockdown of ASncmtRNAs using antisense oligonucleotides (ASOs) induces proliferative arrest and apoptotic death of tumor cells, but not normal cells, from various tissue origins. In order to study the mechanisms underlying this selectivity, in this study we performed RNAseq in MDA-MB-231 breast cancer cells transfected with ASncmtRNA-specific ASO or control-ASO, or left untransfected...
October 2, 2023: Non-Coding RNA
https://read.qxmd.com/read/37872275/episignatures-in-practice-independent-evaluation-of-published-episignatures-for-the-molecular-diagnostics-of-ten-neurodevelopmental-disorders
#35
JOURNAL ARTICLE
Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar, Séverine Audebert-Bellanger, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie-Noëlle Bonnet-Dupeyron, Elise Brischoux-Boucher, Céline Bonnet, Marie Bournez, Odile Boute, Perrine Brunelle, Roseline Caumes, Perrine Charles, Nicolas Chassaing, Nicolas Chatron, Benjamin Cogné, Estelle Colin, Valérie Cormier-Daire, Rodolphe Dard, Benjamin Dauriat, Julian Delanne, Jean-François Deleuze, Florence Demurger, Anne-Sophie Denommé-Pichon, Christel Depienne, Anne Dieux, Christèle Dubourg, Patrick Edery, Salima El Chehadeh, Laurence Faivre, Patricia Fergelot, Mélanie Fradin, Aurore Garde, David Geneviève, Brigitte Gilbert-Dussardier, Cyril Goizet, Alice Goldenberg, Evan Gouy, Anne-Marie Guerrot, Anne Guimier, Inès Harzalla, Delphine Héron, Bertrand Isidor, Didier Lacombe, Xavier Le Guillou Horn, Boris Keren, Alma Kuechler, Elodie Lacaze, Alinoë Lavillaureix, Daphné Lehalle, Gaëtan Lesca, James Lespinasse, Jonathan Levy, Stanislas Lyonnet, Godeliève Morel, Nolwenn Jean-Marçais, Sandrine Marlin, Luisa Marsili, Cyril Mignot, Sophie Nambot, Mathilde Nizon, Robert Olaso, Laurent Pasquier, Laurine Perrin, Florence Petit, Veronique Pingault, Amélie Piton, Fabienne Prieur, Audrey Putoux, Marc Planes, Sylvie Odent, Chloé Quélin, Sylvia Quemener-Redon, Mélanie Rama, Marlène Rio, Massimiliano Rossi, Elise Schaefer, Sophie Rondeau, Pascale Saugier-Veber, Thomas Smol, Sabine Sigaudy, Renaud Touraine, Frederic Tran Mau-Them, Aurélien Trimouille, Julien Van Gils, Clémence Vanlerberghe, Valérie Vantalon, Gabriella Vera, Marie Vincent, Alban Ziegler, Olivier Guillin, Dominique Campion, Camille Charbonnier
Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis of rare diseases. The publication of episignatures as effective biomarkers of certain Mendelian neurodevelopmental disorders has raised hopes to help classify VUS. However, prediction abilities of most published episignatures have not been independently investigated yet, which is a prerequisite for an informed and rigorous use in a diagnostic setting. We generated DNA methylation data from 101 carriers of (likely) pathogenic variants in ten different genes, 57 VUS carriers, and 25 healthy controls...
October 23, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/37835729/sperm-quality-assessment-in-stallions-how-to-choose-relevant-assays-to-answer-clinical-questions
#36
REVIEW
Sophie Egyptien, Stéfan Deleuze, Joy Ledeck, Jérôme Ponthier
Stallion sperm analysis is indicated for infertility diagnosis, pre-sale expertise, production of fresh or frozen doses, and frozen straw quality control. Various collection methods are described, and numerous assays can be performed on semen. Determining an approach for each of these cases is challenging. This review aims to discuss how to obtain relevant clinical results, answering stallion owners' concerns. Semen can be collected with an artificial vagina on a phantom or a mare, by electro-ejaculation under anesthesia, or after pharmacological induction...
October 6, 2023: Animals: An Open Access Journal From MDPI
https://read.qxmd.com/read/37831592/identification-of-potential-common-genetic-modifiers-of-neurofibromas-a-genome-wide-association-study-in-1-333-neurofibromatosis-type-1-patients
#37
JOURNAL ARTICLE
Laurence Pacot, Audrey Sabbagh, Pierre Sohier, Djihad Hadjadj, Manuela Ye, Anne Boland-Auge, Delphine Bacq-Daian, Ingrid Laurendeau, Audrey Briand-Suleau, Jean-François Deleuze, Raphaël Margueron, Michel Vidaud, Salah Ferkal, Béatrice Parfait, Dominique Vidaud, Eric Pasmant, Pierre Wolkenstein
BACKGROUND: Neurofibromatosis type 1 (NF1) is characterized by the highly variable and unpredictable development of benign peripheral nerve sheath tumors named cutaneous (cNFs), subcutaneous (scNFs), and plexiform (pNFs) neurofibromas. OBJECTIVES: A significant genetic component in the variability of neurofibroma incidence was evidenced, but without the influence of the causative NF1 gene pathogenic variant. To identify neurofibroma modifier genes, a NF1 patient database was developed...
October 13, 2023: British Journal of Dermatology
https://read.qxmd.com/read/37818039/ethnomethodological-conversation-analysis-and-the-study-of-assemblages
#38
JOURNAL ARTICLE
Pirkko Raudaskoski
The material turn has challenged traditional social scientific and humanistic research approaches. Both individual and community are rejected as a starting point for theorizing what is going on in societies and cultures. In fact, all dichotomies are deemed suspect, and the research focus draws heavily on actual practices. The concept heterogeneous assemblage is used in at least two strands of the material turn with slightly different takes on the entangled nature of practices. These are actor-network theory, ANT ( cf...
2023: Frontiers in sociology
https://read.qxmd.com/read/37740403/investigation-of-common-genetic-risk-factors-between-thyroid-traits-and-breast-cancer
#39
JOURNAL ARTICLE
Elise A Lucotte, Yazdan Asgari, Pierre-Emmanuel Sugier, Mojgan Karimi, Cloé Domenighetti, Fabienne Lesueur, Anne Boland-Augé, Evgenia Ostroumova, Florent de Vathaire, Monia Zidane, Pascal Guénel, Jean-François Deleuze, Marie-Christine Boutron-Ruault, Gianluca Severi, Benoît Liquet, Thérèse Truong
Breast cancer (BC) risk is suspected to be linked to thyroid disorders, however observational studies exploring the association between BC and thyroid disorders gave conflicting results. We proposed an alternative approach by investigating the shared genetic risk factors between BC and several thyroid traits. We report a positive genetic correlation between BC and thyroxine (FT4) levels (corr = 0.13, p-value = 2.0 × 10-4) and a negative genetic correlation between BC and thyroid-stimulating hormone (TSH) levels (corr = -0...
December 12, 2023: Human Molecular Genetics
https://read.qxmd.com/read/37729845/analysis-of-progesterone-and-estrone-sulfate-in-feces-of-american-bison-using-liquid-chromatography-coupled-to-mass-spectrometry-technical-validation-and-correlation-with-blood-levels
#40
JOURNAL ARTICLE
Patrice Dufour, Vincent Frisée, Goulven Rigaux, Flore Brutinel, Sophie Egyptien, Philippe Bossaert, Jessica Deleersnyder, Stéfan Deleuze, Stéphanie Peeters, Caroline Le Goff, Jérôme Ponthier, Etienne Cavalier
American Bison's wild nature limits blood sample availability to study its endocrinology. This report describes progesterone (P4) and estrone-sulfate (E1S) assays in American Bison feces using Liquid Chromatography coupled with Mass Spectrometry (LC-MS). In 2 ranches, samples of feces (n = 73) and serum (n = 93) were collected in pregnant and nonpregnant American Bison. Feces samples (250 mg) were extracted with methanol, purified, and concentrated. Then, feces and serum samples were assayed using LC-MS, according to our previously described technique...
August 30, 2023: Domestic Animal Endocrinology
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