Primary Ciliary Dyskinesia (PCD) Latest Advances

Loss of RPGR disrupts motile cilia and causes primary ciliary dyskinesia by affecting F-actin dynamics.

Journal: The Journal of clinical investigation

Published: March 31, 2026

Biallelic Truncating DNAH14 Variant in Siblings with Neurodevelopmental Disorder and Predominant Ataxia: Clinical Report and Literature Review.

Journal: International journal of molecular sciences

Published: December 09, 2025

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

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

Primary Ciliary Dyskinesia (PCD) Latest Advances

Find the Latest Research About Primary Ciliary Dyskinesia (PCD)

Loss of RPGR disrupts motile cilia and causes primary ciliary dyskinesia by affecting F-actin dynamics.

Loss of RPGR disrupts motile cilia and causes primary ciliary dyskinesia by affecting F-actin dynamics.

Biallelic Truncating DNAH14 Variant in Siblings with Neurodevelopmental Disorder and Predominant Ataxia: Clinical Report and Literature Review.

Biallelic Truncating DNAH14 Variant in Siblings with Neurodevelopmental Disorder and Predominant Ataxia: Clinical Report and Literature Review.

Cholangiocytes' primary cilia regulate DNA damage response and repair.

Cholangiocytes' primary cilia regulate DNA damage response and repair.

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

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

TTBK2 T3290C mutation in spinocerebellar ataxia 11 interferes with ciliogenesis.

TTBK2 T3290C mutation in spinocerebellar ataxia 11 interferes with ciliogenesis.

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

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

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

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

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

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

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

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

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

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

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

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

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

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