Results 91 to 100 of about 9,546 (191)

661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies

Frontiers in Genetics, 2019
The retina contains several ciliated cell types, including the retinal pigment epithelium (RPE) and photoreceptor cells. The photoreceptor cilium is one of the most highly modified sensory cilia in the human body.
Gabrielle Wheway, Gabrielle Wheway, Gabrielle Wheway, Liliya Nazlamova, Liliya Nazlamova, Liliya Nazlamova, Dann Turner, Stephen Cross   +7 more
doaj   +1 more source

Ciliopathies: Genetic Counseling

, 2022
Joubert syndrome (JS) follows autosomal recessive inheritance, with rare X-linked recessive cases. The disease is genetically heterogeneous with neurological features associated with multiorgan involvement (e.g., retinal dystrophy, nephronophthisis ...
Alessia Sallemi, Maria Domenica Ceravolo, Annamaria Salpietro, Giulia Iapadre, Caterina Cuppari, Ida Ceravolo, Monica Fusco, Alessio Mancuso, Giovanni Farello   +8 more
core   +1 more source

Liver and kidney disease in ciliopathies [PDF]

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2009
AbstractHepatorenal fibrocystic diseases (HRFCDs) are among the most common inherited human disorders. The discovery that proteins defective in the autosomal dominant and recessive polycystic kidney diseases (ADPKD and ARPKD) localize to the primary cilia and the recognition of the role these organelles play in the pathogenesis of HRFCDs led to the ...
openaire   +2 more sources

Complexité génétique des ciliopathies et identification de nouveaux gènes [PDF]

, 2014
Ciliopathies are a large group of human disorders caused by dysfunction of primary or motile cilia and unified by their overlapping clinical features (brain malformations, retinal dystrophy, cystic kidney disease, liver fibrosis and skeletal ...
Bachmann-Gagescu, Ruxandra; https://orcid.org/, Ruxandra Bachmann-Gagescu   +1 more
core   +1 more source

Evaluation of Kidney Transplantation Outcomes of Pediatric Patients with Ciliopathy: A Single Center Experience

Journal of Pediatric Research
Aim: Ciliopathies are rare genetic diseases referring to a group of syndromic diseases characterized by the deterioration of the structure of the cilia, which may cause kidney failure in childhood.
Sevgin Taner, Nur Beril Özden, Banu Sarsık Kumbaracı, Sait Şen, Gülizar Koç, Taylan Özgür Sezer, Seçil Conkar Tunçay, Su Özgür, Ahmet Keskinoğlu, İpek Kaplan Bulut   +9 more
doaj   +1 more source

Primary Cilia, Hypoxia, and Liver Dysfunction: A New Perspective on Biliary Atresia

Cells
Ciliopathies are disorders that affect primary or secondary cellular cilia or structures associated with ciliary function. Primary cilia (PC) are essential for metabolic regulation and embryonic development, and pathogenic variants in cilia-related genes
Patrícia Quelhas, Diogo Morgado, Jorge dos Santos   +2 more
doaj   +1 more source

A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13

Clinical Case Reports
Trisomy 13 is a chromosomal disorder frequently associated with congenital anomalies, including polycystic kidney disease (PKD). Although the link between trisomy 13 and PKD is recognized, the timing and progression of renal cyst development remain ...
Fumiko Yamabe, Takahiro Shindo, Kentaro Haneda, Yoshiyuki Namai, Yutaka Harita   +4 more
doaj   +1 more source

Splicing in the pathogenesis, diagnosis and treatment of ciliopathies

, 2019
Primary cilia are essential signalling organelles found on the apical surface of epithelial cells, where they coordinate chemosensation, mechanosensation and light sensation.
Baralle, Diana, Wheway, Gabrielle, Lord, Jenny   +2 more
core   +1 more source

X-box promoter motif searches: from C. elegans to humans to novel candidate ciliopathies

, 2015
International audienceCiliary defects are known to cause severe genetic disorders, collectively called ciliopathies. We attempt to identify genes involved in human ciliopathies by making use of the evolutionarily conserved X-box promoter motif recognized
G Lauter, Lauter, G, Torchet, R, H Matsson, K Tammimies, R Torchet, Bieder, A, Kere, J, J Burghoorn, E Castren, P Swoboda, J Kere, Tammimies, K,, I Tapia-Páez, Matsson, H, Peyrard, M, M Peyrard, Tapia-Páez, I, A Bieder, Burghoorn, J, Kere, J,, Swoboda, P, Castren, E, Tammimies, K   +23 more
core   +1 more source

Histone Deacetylase 6 (HDAC6) in Ciliopathies: Emerging Insights and Therapeutic Implications

Advanced Science
HDAC6 is integral to the regulation of primary cilia, which are specialized structures that serve as crucial signaling hubs for cellular communication and environmental response.
Zhiyi Wang, Xiaofan Zhu, Zhenzhou Huang, Kaidi Ren, Jie Ran, Yang Yang   +5 more
doaj   +1 more source