Results 41 to 50 of about 1,305 (131)

Serological Predictors of Protection from Infection Upon Household Exposure to SARS‐CoV‐2

European Journal of Immunology, Volume 56, Issue 8, August 2026.
Household members of SARS‐CoV‐2 positive index persons donated a serum sample (t = 0). Within 14 days, the household members reported if COVID‐19‐like symptoms appeared and returned after 2 weeks to be retested. Serum responses were comprehensively measured and elevated variant‐specific IgA1 and neutralizing antibody responses identified in the ...
Henrike Maaß, Imke Hinrichs, Martina Pavletic, Manuela Harries, Tatjana Prinke, Najat Bdeir, Richard Egelkamp, Berit Lange, Yannic C. Bartsch, Mate Lerga, Luka Cicin‐Sain   +10 more
wiley   +1 more source

Molecular Acrobats: How CHD Remodelers Shape the Genetic Playground to License Cell Identity

BioEssays, Volume 48, Issue 7, July 2026.
ABSTRACT In eukaryotes, DNA is not a naked repository of genetic information but is tightly wound around histone octamers to form nucleosomes. While this packaging solves the spatial problem of fitting 2 meters of DNA into a microscopic nucleus, it creates a massive accessibility problem for DNA‐templated events, including transcription, replication ...
İsa Özdemir, Sarah J. Hainer
wiley   +1 more source

Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome

American Journal of Ophthalmology Case Reports, 2018
Purpose: We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa Syndrome (HVDAS), including longitudinal follow-up and analysis. Observations: After extensive workup, a young child with poor visual behavior, hypotonic
Michael J. Gale, Hope E. Titus, Gareth A. Harman, Talal Alabduljalil, Anna Dennis, Jenny L. Wilson, David M. Koeller, Erika Finanger, Peter A. Blasco, Pei-Wen Chiang, Daniel J. Karr, Paul Yang   +11 more
doaj   +1 more source

Comprehensive Psychometric Evaluation of the Assessment of Basic Language and Learning Skills‐Revised and the Assessment of Functional Living Skills

Behavioral Interventions, Volume 41, Issue 2, April 2026.
ABSTRACT Neurodevelopmental disabilities, including autism spectrum disorder, have increased in prevalence, highlighting the need for reliable and valid instruments that guide behavioral interventions. This study reports a comprehensive psychometric evaluation of the Assessment of Basic Language and Learning Skills–Revised (ABLLS‐R) and the Assessment ...
Thomas W. Frazier, Nissa Van Etten, Richard M. Kubina Jr., Allison Frazier, Michael Mueller, Mirko Uljarevic   +5 more
wiley   +1 more source

In silico Analysis of CHD4 Mutations Reveals Domain‐Specific Impacts on Cardiovascular Disorders Among Patients With Rare Diseases

Human Mutation, Volume 2026, Issue 1, 2026.
Chromodomain‐helicase‐DNA‐binding protein 4 (CHD4) is a critical ATP‐dependent chromatin remodeler that plays fundamental roles in transcriptional repression, DNA damage repair, and lineage specification, making it indispensable for cardiovascular development and function.
Apolonia Novillo, Marta Ysbert, Rocío Brea, Alicia María Hidalgo-Estévez, Fadoua El Abdellaoui-Soussi, Pablo Gómez-del Arco, Hannah Wesley   +6 more
wiley   +1 more source

Applications and Challenges of Epigenetic Signature Detection in the Diagnostic Genomics Laboratory–Current and Future Directions

International Journal of Genomics, Volume 2026, Issue 1, 2026.
Background Epigenetic signature detection (ESD) identifies disease‐associated DNA methylation patterns and offers valuable insights beyond traditional genomic testing. Episignatures are increasingly recognised for their diagnostic potential, particularly in rare and complex disorders where conventional sequencing falls short.
Amy Harte, Preeti Khetarpal
wiley   +1 more source

Tracing the Invisible Mutant ADNP protein in Helsmoortel- Van der Aa Syndrome patients

, 2023
Abstract Heterozygous de novo mutations in the Activity-Dependent Neuroprotective Homeobox (ADNP) gene underlie Helsmoortel-Van der Aa syndrome (HVDAS). Most of these mutations are situated in the last exon and we previously demonstrated escape from nonsense-mediated decay by detecting mutant ADNP mRNA in patient blood. In this study, wild-type
Claudio Peter D'Incal, Elisa Cappuyns, Kaoutar Choukri, Kevin De Man, Kristy Szrama, Anthony Konings, Lina Bastini, Michele Gabriele, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Fabio Mohn, Marc Bühler, Nathalie Van der Aa, Anke Van Dijck, R. Frank Kooy, Wim Vanden Berghe   +16 more
openaire   +1 more source

Subtypes of multiple‐etiology dementias and the heterogeneous impact of APOE variants

Alzheimer's &Dementia, Volume 21, Issue 11, November 2025.
Abstract INTRODUCTION Multiple‐etiology dementias (MEDs) are frequently identified at autopsy but often missed in clinical diagnosis, limiting the efficiency of dementia research and treatment. This study aimed to characterize subtypes of MEDs, evaluate clinical underdiagnosis, and assess the heterogeneous impact of apolipoprotein E (APOE) variants on ...
Elizabeth Pirraglia, Ricardo S. Osorio, Lidia Glodzik, Yibeltal Ashebir, Yongzhao Shao   +4 more
wiley   +1 more source

Linking autism risk genes to morphological and pharmaceutical screening by high‐content imaging: Future directions and opinion

Psychiatry and Clinical Neurosciences, Volume 79, Issue 8, Page 435-446, August 2025.
Next‐generation sequencing has identified risk genes with large effect sizes for autism spectrum disorders (ASD). Although functional analysis of individual risk genes has progressed, the overall picture of ASD pathogenesis is unclear. Therefore, there is a need for morphological profiling of variants in these genes to fully comprehend their ...
Reza K. Arta, Yuichiro Watanabe, Jun Egawa, Vance P. Lemmon, Toshiyuki Someya   +4 more
wiley   +1 more source

Psychometric evaluation of the Autism Symptom Dimensions Questionnaire

Developmental Medicine &Child Neurology, Volume 67, Issue 6, Page 758-769, June 2025.
Comprehensive Evaluation of the Autism Symptom Dimensions Questionnaire (ASDQ). Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16229 This original article is commented by Bishop and Zheng on pages 697–698 of this issue. Abstract Aim To replicate and extend previous psychometric findings for the Autism Symptom Dimensions ...
Thomas W. Frazier, Anastasia Dimitropoulos, Leonard Abbeduto, Melissa Armstrong‐Brine, Shanna Kralovic, Andy Shih, Antonio Y. Hardan, Eric A. Youngstrom, Mirko Uljarević, on behalf of the Verbal Beginnings Team, Nick Chappell, Diana Wolf, Rebecca Womack   +12 more
wiley   +1 more source