Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis +9 more
wiley +1 more source
Aurora-A Promotes Cell-Cycle Progression From Quiescence Through Primary Cilia Disassembly. [PDF]
Kohso A +6 more
europepmc +1 more source
Happiness and Smell: Overlooked Factors in Endoscopic Sinus Surgery?
ABSTRACT Objective This study investigates the impact of functional endoscopic sinus surgery (FESS) on happiness levels in patients with chronic rhinosinusitis with nasal polyps (CRSwNP) and examines the factors influencing postoperative happiness. Methods This study included 55 patients (34 males, 21 females; mean age, 41.2 ± 14.7 years) who underwent
Tuğba Tulacı +4 more
wiley +1 more source
New Insights into the Molecular Actions of Grosheimin, Costunolide, and α- and β-Cyclocostunolide on Primary Cilia Structure and Hedgehog Signaling. [PDF]
Murillo-Pineda M +8 more
europepmc +1 more source
ABSTRACT Mucous membrane pemphigoid (MMP) following anti‐programmed cell death‐1 (PD‐1) therapy is rare but increasingly reported. Management of high‐ and low‐risk MMP in this setting and the potential oncologic trade‐offs remain poorly defined. We performed a narrative synthesis of all published cases of anti‐PD‐1‐associated MMP, following MEDLINE ...
Serena Dienes +2 more
wiley +1 more source
PIEZO1-Primary Cilia Axis Mediates Compressive Stress-Induced Growth Plate Degeneration and Ossification in Adolescent Idiopathic Scoliosis. [PDF]
Chen F +12 more
europepmc +1 more source
ABSTRACT Objective To assess the effect of orally administered cannabidiol (CBD) on TonoVet measured intraocular pressure (IOP) and Schirmer tear test I (STT) in horses. Animal Studied Horse. Procedure This was a masked, randomized, balanced cross‐over study of six healthy adult horses.
Kathryn Diehl +2 more
wiley +1 more source
Prostaglandin E2 and Progesterone Receptor Coordinately Regulate Primary Cilia for Proper Decidualization. [PDF]
Lee CJ +10 more
europepmc +1 more source
The Early Ophthalmic Effects of Vatinoxan in Healthy Detomidine‐Sedated Horses
ABSTRACT Objective To evaluate the short‐term ophthalmic effects of vatinoxan, a peripherally selective alpha2‐adrenoceptor antagonist, in detomidine‐sedated horses. Animals Studied Seven healthy horses without ophthalmic disease in a randomized, masked, two‐period crossover study design, with a ≥ 7‐day rest period.
Minna Pauliina Mustikka +5 more
wiley +1 more source
The DNA-PKcs-primary cilia axis maintains ionizing radiation-induced senescence in tumor cells. [PDF]
Liu X +8 more
europepmc +1 more source

