Results 191 to 200 of about 47,175 (263)

Virus‐specific alterations in placental structure and transporter expression following maternal arbovirus infection

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend Arboviruses induce virus‐specific alterations in placental structure and functional markers. Chikungunya virus (CHIKV) exposure was associated with reduced syncytiotrophoblast and syncytial knot areas, increased cytotrophoblast proliferation (Ki‐67) and thyroid transporter (MCT8) expression, reduced protective (P‐gp and BCRP ...
Cherley B. V. Andrade   +13 more
wiley   +1 more source

Altered neural electrophysiological properties in the anterior cingulate cortex in a mouse model of Prader‐Willi syndrome

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend Prader‐Willi syndrome (PWS) originates from deficiencies in chromosome 15q11‐13 region clustering around a critical region containing multiple‐repeat non‐coding RNA gene Snord116, resulting in metabolic and behavioural abnormalities leading to hyperphagia and obesity.
Volodymyr Rybalchenko, Ryan Butler
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2067-2079, September 2026.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli   +18 more
wiley   +1 more source

Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies

open access: yesJournal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.
This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Qiaowei Zhang   +7 more
wiley   +1 more source

From regulatory mechanisms to cutting‐edge applications: Research progress of ultrasound, electrical, magnetic, and optical stimulation in neural modulation

open access: yesJournal of Intelligent Medicine, Volume 3, Issue 3, Page 196-219, September 2026.
Abstract In recent years, the clinical treatment and symptom management of neurological disorders have faced significant challenges due to the high complexity of the nervous system's structure and function. Against this backdrop, physical stimulation techniques have emerged as a vital complementary approach to traditional pharmacological treatments and
Wanying Li, Liqun Chen
wiley   +1 more source

From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Coenzyme A (CoA) biosynthesis is a conserved, dynamically regulated pathway essential for mitochondrial energy production, fatty acid oxidation, lipid biosynthesis and protein acylation. Biallelic variants in PANK2, PPCS, PPCDC, and COASY cause rare inborn errors of CoA biosynthesis, associated with markedly different clinical phenotypes ...
Ivano Di Meo   +3 more
wiley   +1 more source

Cell Death in Neurodegenerative Diseases: Molecular Mechanisms and Therapeutic Targets

open access: yesMedComm, Volume 7, Issue 9, September 2026.
Regulated cell death pathways, including apoptosis, necroptosis, pyroptosis, ferroptosis, and autophagy‐dependent cell death, interact with mitochondrial dysfunction, proteostasis failure, lysosomal stress, glial remodeling, and neuroinflammation across major neurodegenerative diseases.
Tianjiao Li   +3 more
wiley   +1 more source

Persistent executive, visuospatial, and conceptual deficits after right posterior cerebellar infarction

open access: yesPsychiatry and Clinical Neurosciences Reports, Volume 5, Issue 3, September 2026.
Abstract Background The cerebellum has traditionally been regarded as a structure primarily involved in motor coordination. However, accumulating evidence indicates that the cerebellum can exert substantial influence on cognitive and emotional processes.
Daisuke Yoshioka   +2 more
wiley   +1 more source

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