Results 141 to 150 of about 38,738 (216)

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

American 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, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Comparative Safety of Six First-Line Antiepileptic Monotherapies in Pediatric Epilepsy Using the United States FDA Adverse Event Reporting System. [PDF]

Cureus
Ogura T, Shiraishi C.
europepmc   +1 more source

Peripheral κ opioid receptor in pain and inflammation: From molecular signalling and gene expression to drug discovery

British Journal of Pharmacology, Volume 183, Issue 17, Page 5157-5189, September 2026.
The κ opioid receptor (κ receptor, KOR) is a G protein‐coupled receptor with well established roles in analgesia and immune modulation. Although historically studied primarily in the central nervous system (CNS), growing evidence indicates that κ signalling in peripheral tissues plays an important role in regulating pain, inflammation and immune ...
Rumsha Khan, Elena C. A. Becker, Boglarka B. Bata, Christian W. Gruber   +3 more
wiley   +1 more source

Occurrence of anticancer drugs and widely used pharmaceuticals in sewage sludge, compost, and river sediment. [PDF]

Environ Sci Pollut Res Int
Alitalo OS, Gutovskaia E, Rantalainen AL, Pellinen J.   +3 more
europepmc   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 3, Page 315-324, September 2026.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Soil accumulation and plant uptake of pharmaceutical active compounds and related metabolites from irrigation water in fennel (<i>Foeniculum vulgare</i> Mill.). [PDF]

Front Plant Sci
Gatta G, De Mastro F, Carucci F, Perniola M, Denora M, Brunetti G, Gagliardi A, Giuliani MM.   +7 more
europepmc   +1 more source

Boy in the Barrel: Excruciating Paroxysmal Pain Disorder Associated With an SCN9A Gain‐of‐Function Variant

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims Gain‐of‐function variants in SCN9A, encoding the Nav1.7 sodium channel, cause inherited painful neuropathic disorders. We report a young man with severe childhood‐onset heat‐triggered paroxysmal pain, autonomic dysfunction, skeletal abnormalities, and a de novo SCN9A p.Ile234Thr variant, emphasizing the diagnostic and ...
Pedro Jose Tomaselli, Rodrigo Siqueira Soares Frezatti, Christopher J. Record, Maria Cristina Lopes Schiavoni, Natalia Dominik, Jana Vandrovcova, Mary M. Reilly, Wilson Marques Jr   +7 more
wiley   +1 more source

Simultaneous quantification of drug and coformer during cocrystal dissolution using <i>in situ</i> UV spectroscopy and multicomponent analysis. [PDF]

ADMET DMPK
Ishida S, Lee S, Sinko B, Box K, Sugano K.   +4 more
europepmc   +1 more source

Autophagy in MASLD: A Metabolic and Precision Medicine Perspective

Liver International, Volume 46, Issue 9, September 2026.
ABSTRACT Metabolic dysfunction‐associated steatotic liver disease (MASLD) is the most common chronic liver condition worldwide and a major contributor to cirrhosis and hepatocellular carcinoma (HCC). While metabolic triggers such as obesity and insulin resistance are key drivers of MASLD, growing evidence has identified defects in intracellular quality
Alessandra Cazzaniga, Silvia Frigo, Alessandro Cherubini, Eniada Rrapaj, Luca Valenti   +4 more
wiley   +1 more source

Long-term effects of carbamazepine on bone-related biochemical markers in patients with epilepsy. [PDF]

Acta Epileptol
Hakami AY, Althagafi AA, Alkhayat AS, Alturkistani BA, Mawar HE, Ibrahim IH, Abualhamail H, Ahmed ME.   +7 more
europepmc   +1 more source