Results 141 to 150 of about 24,103,638 (294)

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

A Growth Chart for KBG Syndrome

American Journal of Medical Genetics Part A, EarlyView.
Karen J. Low, Elena Martinez‐Cayuelas, Berta Almoguera, Purin Marin‐Reina, Allan Bayat, Charlotte W. Ockeloen, Tim J. Cole   +6 more
wiley   +1 more source

CSF‐Compartmentalized Antibody Glycoprofiles in NMDAR Encephalitis Associate with Etiology and Functional Recovery

Annals of Neurology, EarlyView.
Objective To characterize Fc‐glycosylation profiles in patients with anti‐N‐methyl‐D‐aspartate receptor encephalitis (NMDARe) and assess their association with antibody compartmentalization (cerebrospinal fluid [CSF] vs serum), disease triggers (viral, tumor‐related or idiopathic), and 1‐year outcomes.
Laura Marmolejo, Claudia Papi, Chiara Milano, Esther Aguilar, Estibaliz Maudes, Ivana Duvnjak Orešković, Jerko Štambuk, Maja Pučić‐Baković, Gemma Olivé‐Cirera, Elianet Fonseca, Mar Guasp, Eugenia Martinez‐Hernandez, Helena Ariño, Takahiro Iizuka, Thais Armangué, Josep Dalmau, Marianna Spatola   +16 more
wiley   +1 more source

Descriptive, comparative, and functional anatomy of the facial musculature in cattle (Bos taurus)

The Anatomical Record, EarlyView.
Abstract Facial expressions can provide insight into animal emotions and pain, but no standardized system for assessing the entire facial display in cattle (Bos taurus Linnaeus) exists. The Facial Action Coding System (FACS), originally developed for humans, identifies distinct facial movements based on mimetic muscles.
Maja Söderlind, Bridget Cain, Katrina Ask, Jean‐Francois Valarcher, Elin Hernlund, Pia Haubro Andersen, Marie Rhodin   +6 more
wiley   +1 more source

Over the edge: Empirical evidence for the cliff‐edge model of obstetric selection

The Anatomical Record, EarlyView.
Abstract The cliff‐edge model of obstetric selection maintains that larger neonates and smaller birth canals confer a positive selective advantage until labor becomes obstructed and vaginal delivery is no longer possible, eliciting an abrupt reduction in fitness.
Laura M. Watson, Pierre Frémondière, Kaspar Staub, Philipp Mitteroecker, Barbara Fischer, Martin Haeusler, Nicole M. Webb   +6 more
wiley   +1 more source

Efficacy of Telitacicept in Childhood‐Onset Systemic Lupus Erythematosus: A Prospective Multicenter Cohort Study With Inverse Probability of Treatment Weighting –Adjusted Comparison to a Historical Control Group Treated With Belimumab

Arthritis &Rheumatology, EarlyView.
Objective The therapeutic effects of telitacicept combined with standard of care (SoC) in childhood‐onset systemic lupus erythematosus (cSLE) remain unclear. This study aims to evaluate its efficacy in comparison with belimumab combined with SoC.
Chong Luo, Shu Su, Jingyue Liu, Junyu Lin, Jin Song, Zongwen Chen, Yuanyuan Peng, Lijun Jiang, Meng Jia, Li Wang, Xinhui Jiang, Wei Zhang, Zanhua Rong, Bo Zhao, Yajun Wang, Xuemei Tang   +15 more
wiley   +1 more source

Immunologic Profiling Suggests an Association Between Treg Cell Dysfunction and Pain in Knee Osteoarthritis

Arthritis &Rheumatology, EarlyView.
Objective Pain is the hallmark symptom of osteoarthritis (OA), and its biologic drivers remain poorly understood. Although the role of innate immunity in OA has been extensively studied, the involvement of adaptive immunity, in particular Treg cells, is not well understood.
Marie Binvignat, Johanna Dubois, Maria Marco Salvador, Paul Stys, Fabien Pitoiset, Alexandra Roux, Michèle Sastre, Signe Hassler, Roberta Lorenzon, Claire Ribet, Vanessa Mhanna, Hélène Vantomme, Leslie Adda, Pierre Barennes, Nicolas Coatnoan, Kenz Le Gouge, Caroline Aheng, Alice Courties, Lise Minssen, Atul J. Butte, Adrien Six, Michelle Rosenzwajg, Nicolas Tchitchek, Francis Berenbaum, David Klatzmann, Encarnita Mariotti‐Ferrandiz, Jérémie Sellam   +26 more
wiley   +1 more source

Privacy-aware speaker trait and multimodal features relationship analysis in job interviews. [PDF]

Sci Rep
Mawalim CO, Leong CW, Okada S.
europepmc   +1 more source