Results 301 to 310 of about 117,699 (379)
Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 7, Page 1304-1317, July 2025.Abnormal cavum septi pellucidi is the most common indirect sign of partial agenesis of corpus callosum (pACC). A cystic mass in the midline that communicates with the third ventricle may be an indirect sign of pACC. PACC is highly associated with intra‐ and extracranial malformations.
Changrong Zhou +8 more
wiley +1 more source
Clinical Genetics, Volume 108, Issue 1, Page 107-108, July 2025.This short letter shows the limited diagnostic utility of PRDM10 screening in patients with a clinical suspicion of BHD syndrome. In a cohort of 313 patients with a suspicion of BHD syndrome and no FLCN mutations, none carry a pathogenic PRDM10 variation.
Agathe Hercent +2 more
wiley +1 more source
Diabetes, Obesity and Metabolism, Volume 27, Issue S5, Page 45-62, July 2025.Abstract Insulin has been discovered for more than a century; however, its benefits to people with diabetes are yet to be fully realized due to barriers related to access, quality of care and costs. Insulin therapy remains the cornerstone of diabetes management. The multicausality of diabetes and its subtypes calls for comprehensive phenotyping and use
Aimin Yang +4 more
wiley +1 more source
ILC2 Diversity, Location, and Function in Pulmonary Disease
Immunological Reviews, Volume 332, Issue 1, July 2025.ABSTRACT Type‐2 inflammation is driven by the production of canonical type‐2 cytokines IL‐4, IL‐5, and IL‐13. Type‐2 cytokines promote mucus production, innate immune cell recruitment, and smooth muscle contractility in mucosal tissues. These hallmarks of type‐2 inflammation are important contributors to the weep‐and‐sweep responses observed in the ...
Mukesh Verma +2 more
wiley +1 more source
The FASEB Journal, Volume 39, Issue 11, 15 June 2025.Mutations in the human GABA transporter 1 (hGAT‐1) gene impair GABA transport, leading to developmental disorders like epilepsy and autism. These mutations often disrupt protein folding. Pharmacochaperones can rescue transporter expression and function in heterologous cell lines and in Drosophila melanogaster, thus offering potential therapeutic ...
Nikita Shah +8 more
wiley +1 more source
Histone Deacetylase 6 (HDAC6) in Ciliopathies: Emerging Insights and Therapeutic Implications
Advanced Science, Volume 12, Issue 21, June 5, 2025.HDAC6 regulates primary cilia, crucial for cellular signalling and environmental responses. Dysregulation of HDAC6 contributes to ciliopathies, affecting multiple organs. This review examines HDAC6's role in ciliogenesis, its interaction with signaling molecules, and its potential as a therapeutic target.
Zhiyi Wang +5 more
wiley +1 more source
Diagnostic and therapeutic challenges of an ambiguous cystic kidney disease in a resource limited setting: a case report. [PDF]
BMC Res Notes, 2017 Dimala CA +4 more
europepmc +1 more source