Results 161 to 170 of about 847 (213)
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT This study aims to prospectively collect harmonized, quantitative, and dimensional psychiatric phenotypes (suicidality, anhedonia, and obsessive‐compulsive symptoms) and information on discrimination, stigma, and unfair treatment in up to 27,500 individuals across diverse ancestries and clinical populations for genetic analysis within the NIMH
Ana M. Diaz‐Zuluaga +36 more
wiley +1 more source
The Politics of Framing the Student Problem: Inquiries Into Australian Civics Education, 2006–2024
Australian Journal of Social Issues, EarlyView.ABSTRACT Recurring debates about civics, the kinds of history that should, and should not, be taught in school, and ‘standards debates’ about the ‘basics’ typically follow on the heels of recurring moral panics about the ‘declining’ state of ‘our’ education system.
Patrick O'Keeffe +2 more
wiley +1 more source
Supported Decision‐Making Rights in Behaviour Support Policies
Australian Journal of Social Issues, EarlyView.ABSTRACT Disability policy emphasises that people with disability have the right to exercise their will and preferences in their lives, and decision‐making support must be provided to realise this right if they request. One context in which people's will and preferences are often restricted is behaviour support.
Sally Robinson +6 more
wiley +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Identifying predictive and monitoring biomarkers for allergen immunotherapy response is crucial for enhancing clinical efficacy. This study aims to investigate the systemic and local levels of immunoglobulins and identify potential biomarkers in house dust mite (HDM) allergic rhinitis (AR) patients who are undergoing subcutaneous ...
Xu Xu +6 more
wiley +1 more source
Traduzione e musica: stato dell'arte e prospettive della singable translation in italiano e spagnolo
Este proyecto de investigación examina el proceso de traducción aplicado a los textos musicales, centrándose principalmente en la singable translation, una transposición interlingüística subordinada a los criterios de ritmo, cantabilidad, naturalidad, sentido y rima.
openaire +2 more sources
Animal Models and Experimental Medicine, EarlyView.We identified 45% HFD as the optimal formulation to establish a juvenile rat model of obesity‐related precocious puberty. It elicits robust phenotypic (early vaginal opening, obesity), histological (advanced ovarian development), and endocrine (elevated HPG axis hormones) alterations, with leptin‐mediated GnRH secretion as a core mechanistic driver ...
Jiayi Gong +5 more
wiley +1 more source
Machine Learning Accelerates Crystallization for Structure Determination
Angewandte Chemie, EarlyView.Single‐crystal X‐ray diffraction (SCXRD) is often constrained by the difficulty of obtaining suitable crystals. Here, a machine learning‐accelerated co‐crystal discovery workflow is established for a crystalline mate strategy that achieves over 95% prediction accuracy and experimentally delivers 114 co‐crystals from 120 candidates.
Cui‐Zhou Luan +10 more
wiley +2 more sources
Animal Models and Experimental Medicine, EarlyView.Transcriptome sequencing identified secreted phosphoprotein 1 (SPP1) as a crucial target through which methylophiopogonanone A (MOA) ameliorates pulmonary fibrosis. Molecular docking and microscale thermophoresis (MST) assays confirmed a favorable binding affinity between MOA and SPP1.
Fan Yang +10 more
wiley +1 more source
RATEX: A Scalable RNA‐Based Platform for Logical and Multi‐Layered Cellular Programming
Angewandte Chemie, EarlyView.RATEX integrated ribosome‐mediated transcription control with synthetic RNA regulators, enabling simultaneous processing of RNA, metabolite, and small‐molecule inputs through complex logic operations within a single transcript. The platform achieves up to 1,492‐fold gene regulation, multi‐input hybrid logic gates, RNA‐programmed signaling cascades, and
Hyunseop Goh +3 more
wiley +2 more sources