Primary Ciliary Dyskinesia (PCD) Latest Advances

Cholangiocytes' primary cilia regulate DNA damage response and repair.

Journal: American journal of physiology. Gastrointestinal and liver physiology

Published: August 12, 2025

A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa.

Journal: Pharmacogenomics and personalized medicine

Published: October 20, 2024

TTBK2 T3290C mutation in spinocerebellar ataxia 11 interferes with ciliogenesis.

Journal: Translational neuroscience

Published: May 28, 2024

Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy.

Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

Published: March 11, 2024

BOUCHER-NEUHAUSER SYNDROME: CHORIORETINAL CHANGES IN A SINGLE CASE OVER TIME.

Journal: Retinal cases & brief reports

Published: March 06, 2024

Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro.

Journal: Cell and tissue research

Published: August 04, 2023

Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology.

Journal: Annals of human genetics

Published: June 30, 2023

TTBK2 mutations associated with spinocerebellar ataxia type 11 disrupt peroxisome dynamics and ciliary localization of SHH signaling proteins.

Journal: bioRxiv : the preprint server for biology

Published: February 13, 2023

Improvement of Spinocerebellar Ataxia 3 Symptoms Treated with Eurythmy Therapy: A Case Vignette.

Journal: Complementary medicine research

Published: August 18, 2022

Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.

Journal: Molecular neurobiology

Published: January 31, 2022

Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.

Journal: Cerebellum (London, England)

Published: November 22, 2021

Movement disorders associated with neuronal antibodies: a data-driven approach.

Journal: Journal of neurology

Published: October 25, 2021