Results 191 to 200 of about 12,076 (219)

Ciliopathy: Usher Syndrome

There are nine known loci, USH1B to USH1K (no USH1A or USH1I).
Benjamin Kuang-Chien, Chiang, Stephen H, Tsang, Alicia R P, Aycinena, Tarun, Sharma   +3 more
openaire   +2 more sources

Ciliopathies

Abstract Ciliopathies refer to a collection of disorders caused by defects in the formation or function of the primary cilium. The clinical manifestations of ciliopathies are broadly overlapping, yet highly variable. Syndromic ciliopathies, including Bardet-Biedl syndrome (BBS), Joubert syndrome (JBTS), Usher syndrome, and Senior-Løken ...
openaire   +1 more source

Ciliopathies and DNA damage

Current Opinion in Nephrology and Hypertension, 2015
In the past decade a wealth of publications have established the central role of cilia and centrosomes in the pathogenesis of cystic kidney diseases, associated or not with extrarenal symptoms. This review outlines recent findings that have unexpectedly linked ciliary and centrosomal proteins to DNA damage and repair and have opened new perspectives ...
openaire   +2 more sources

Ciliopathy: Sjögren-Larsson Syndrome

2018
Glistening yellow-white crystalline inclusions in foveal and parafoveal areas are almost pathognomonic (Fig. 36.1). These inclusions are evident at 1-2 years old and increase with age. Patients may have corneal stromal opacities, punctate keratitis, myopia, and astigmatism.
Stephen H, Tsang, Alicia R P, Aycinena, Tarun, Sharma   +2 more
openaire   +3 more sources

Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: Past, present and future

Progress in Retinal and Eye Research, 2022
Bharatendu Chandra, Ying Hsu, Todd E Scheetz   +2 more
exaly  

Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies

Journal of Developmental Biology, 2022
Vasiliki Karalis, Mustafa Sahin
exaly  

Renal ciliopathies: promising drug targets and prospects for clinical trials

Expert Opinion on Therapeutic Targets, 2023
Laura Devlin, Praveen Dhondurao Sudhindar, John A. Sayer   +2 more
exaly  

Special issue: Cilia and ciliopathies

Journal of Cellular Physiology, 2022
Chengtian Zhao, Sudipto Roy
openaire   +2 more sources

Proteome balance in ciliopathies: the OFD1 protein example

Trends in Molecular Medicine, 2023
Manuela Morleo, Brunella Franco
exaly  

Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance

Fetal and Pediatric Pathology, 2022
Vinita Agrawal, Kausik Mandal
exaly