Case series: Joubert syndrome and eosinophilic esophagitis
Abstract Joubert syndrome (JS) is a rare genetic disorder characterized by developmental abnormalities, particularly in the brainstem and cerebellar vermis, alongside multisystem manifestations such as kidney and liver anomalies, polydactyly, cleft lip or palate, and tongue defects.
Jonathon Schening +5 more
wiley +1 more source
Phosphatidylinositol 4,5-bisphosphate impacts extracellular vesicle shedding from C. elegans ciliated sensory neurons. [PDF]
Elsayyid MW +5 more
europepmc +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
A Novel Slit Lamp‐Based System for 3D Ultrasound of the Eye
Objectives This study aims to develop and evaluate a novel slit‐lamp‐based system to acquire 3‐dimensional (3D) ultrasound volumes using conventional ultrasound probes. Methods A slit‐lamp adapter was 3D printed and connected with a linear actuator and graphical user interface (GUI) system to control movement and create volumes of 2‐dimensional scans ...
Claire E. Malley +9 more
wiley +1 more source
A protein complex in the extreme distal tip of vertebrate motile cilia controls their organization, length, and function. [PDF]
Hong J +15 more
europepmc +1 more source
Approach to Nail Pitting in Pediatric and Adolescent Patients: A Dermatology Perspective
ABSTRACT This narrative review aims to discuss the etiologies of nail pitting in pediatric and adolescent patients, while providing a framework for further evaluation of possible underlying systemic conditions and their clinical findings from a dermatologic standpoint.
Elizabeth Botto +3 more
wiley +1 more source
A High-Resolution Subcellular Map of Proteins in Cells with Motile Cilia. [PDF]
Bertilsson F +5 more
europepmc +1 more source
Immunotherapy‐Related Cutaneous Toxicities in Melanoma: A Dermoscopic Perspective
Dermoscopy serves as a valuable tool in the everyday dermatological and oncological practice for melanoma patients, allowing for the prompt identification of immune‐related cutaneous toxicities and guiding clinicians toward appropriate therapeutic decisions.
Grażyna Kamińska‐Winciorek +3 more
wiley +1 more source
The primary cilium as a multifunctional organelle: emerging roles and unanswered questions. [PDF]
Corbeil D +4 more
europepmc +1 more source
ABSTRACT The age‐related decline in accommodative function after the age of 50 years corresponds with an increasing incidence of primary angle‐closure disease (PACD); however, the interaction between this decline and PACD remains unexamined. Additionally, refractive error‐accommodation associations in elderly individuals, which are critical for PACD ...
Feng‐Rui Yang +6 more
wiley +1 more source

