Results 21 to 30 of about 15,928,102 (138)

Bone Organoids Across the Development‐to‐Remodeling Continuum: From Tissue Formation to Functional Competence and Translation

Advanced Healthcare Materials, EarlyView.
Mineralization alone does not establish a mature bone organoid. This Review integrates biological foundations, materials design, adaptive remodeling, and translational validation through the development‐to‐remodeling continuum (DRC). By separating biological functions from the evidence supporting them, the framework exposes critical gaps in current ...
Xijie Tang, Haijia Xu, Xiangzhong Liu, Yi Yang, Zhanghua Li   +4 more
wiley   +1 more source

Making Sweat Measurable: Induction, Sampling, and Refreshment in Wearable Biofluid Sensing

Advanced Science, EarlyView.
Wearable sweat sensing relies not only on chemical detection but also on controlled biofluid management. This Review integrates sweat physiology, induction strategies, and microfluidic sampling architectures, demonstrating how flux, transport, and refreshment shape measurement reliability.
Soyoung Shin, Wei Gao
wiley   +1 more source

Drug Repurposing for Treating NCOR‐Related Intellectual Disability

Advanced Science, EarlyView.
An autism‐associated NCOR1 heterozygous mutation upregulates NRGs and activates NRG backward signaling in hypothalamic GABAergic neurons in mouse models, leading to Gabra2 downregulation and cognitive deficits, which can be therapeutically targeted by repurposing FDA‐approved drugs.
Yan Kong, Wenjun Zhou, Yuxiang Sun, Zihan Huang, Zhiyue Liu, Udhaya Kumar. S, Chenyan Li, Yi Lu, Chengchuang Song, Veronica C. Ciliberto, Makenna Mack, Lana E. Kim, Zhaoyong Hu, Fang Luo, Aihua Cao, Zheng Sun   +15 more
wiley   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Delayed Puberty-Phenotypic Diversity, Molecular Genetic Mechanisms, and Recent Discoveries. [PDF]

, 2019
This review presents a comprehensive discussion of the clinical condition of delayed puberty, a common presentation to the pediatric endocrinologist, which may present both diagnostic and prognostic challenges. Our understanding of the genetic control of
Howard, SR, Dunkel, L
core   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Family History of Eating Disorders: A Systematic Review and Meta‐Analysis

European Eating Disorders Review, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to synthesise the available literature on the prevalence of a family history of eating disorders (ED) among individuals with EDs. Method A systematic literature search was conducted in PubMed, Embase, and APA PsycInfo.
Emma Bitsch Rasmussen, Sophie Rams Sparvath, Josefine Jul Dissing, Mie Frederiksen Larsen, Kristine Kahr Nilsson, Gry Kjaersdam Telléus   +5 more
wiley   +1 more source

LXRα and PPARα Mediated Hepatic Lipid Metabolic Disruption Induced by the UV Filter EHMC in 2D and 3D HepaRG Cell Models

Food Safety and Health, EarlyView.
Dietary UV filter EHMC induces hepatic steatosis in HepaRG cells at noncytotoxic concentrations. Mechanistically, EHMC binds nuclear receptors (LXRα, PPARα), upregulating SREBP‐1 to accelerate fatty acid synthesis. These findings highlight the potential metabolic toxicity of widespread EHMC exposure through food sources.
Shanglin Yang, Na Li, Yingnan Han, Mei Ma   +3 more
wiley   +1 more source