Results 161 to 170 of about 9,546 (191)

Ciliopathy: Alström Syndrome

2018
Alström syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, hearing loss, type 2 diabetes, insulin resistance with hyperinsulinemia, dilated cardiomyopathy, and progressive hepatic and renal failure.
Stephen H, Tsang, Alicia R P, Aycinena, Tarun, Sharma   +2 more
openaire   +3 more sources

Renal Pathology of Ciliopathies

Pediatric and Developmental Pathology
Renal ciliopathies are a group of genetic disorders that affect the function of the primary cilium in the kidney, as well as other organs. Since primary cilia are important for regulation of cell signaling pathways, ciliary dysfunction results in a range of clinical manifestations, including renal failure, cyst formation, and hypertension. We summarize
Thivya, Sekar, Neil J, Sebire
openaire   +2 more sources

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

Ciliopathy: Senior-Løken Syndrome

2018
Senior-Løken syndrome is a rare autosomal recessive disease with a prevalence of 1:1,000,000.
Stephen H, Tsang, Alicia R P, Aycinena, Tarun, Sharma   +2 more
openaire   +3 more sources

WDR44 Ciliopathy

Abstract This chapter provides a picture and clinical details of WDR44 Ciliopathy, an X-linked syndrome with mild to moderate intellectual disability, hypotonia, craniofacial dysmorphism, microcephaly, minor cardiac defects, skin findings, hand and foot anomalies, join hypermobility, cryptorchidism, and brain anomalies.
Charles E. Schwartz, Roger E. Stevenson, Tao Wang   +2 more
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

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

Progress in Retinal and Eye Research, 2022
Ying Hsu, Todd Scheetz, Moon Ley Tung
exaly  

Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies

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

Proteome balance in ciliopathies: the OFD1 protein example

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