Results 91 to 100 of about 8,699 (199)
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 +7 more
doaj +1 more source
Looking beyond cilia in renal ciliopathies
, 2015 In this work, I have investigated the group of inherited diseases called “ciliopathies”, involving defects in proteins localizing to the cilium or associated complexes and pathways.
Slaats, G.G.G.
core
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 +2 more
core +1 more source
Ciliopathy in PCS (MVA) syndrome
Oncotarget, 2015 The spindle assembly checkpoint (SAC) is a surveillance mechanism of faithful chromosome segregation during mitosis. Budding uninhibited by benzimidazole-related-1 (BubR1) plays a central role in the SAC through inhibition of anaphase promoting complex/cyclosome (APC/C) activity until all chromosomes have established proper attachment to the mitotic ...
Tatsuo, Miyamoto, Shinya, Matsuura
openaire +2 more sources
Mechanisms of Nephronophthisis and Related Ciliopathies
, 2010 An emerging group of human genetic diseases termed ‘ciliopathies’ are caused by dysfunction of two functionally and physically associated organelles, the centrosome and cilium.
Toby W. Hurd, Friedhelm Hildebrandt
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 +23 more
core +1 more source
A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies [PDF]
, 2018 Primary cilia organize Hedgehog signaling and shape embryonic development, and their dysregulation is the unifying cause of ciliopathies. We conducted a functional genomic screen for Hedgehog signaling by engineering antibiotic-based selection of ...
Bassik, Michael C +23 more
core +1 more source
A comprehensive portrait of cilia and ciliopathies from a CRISPR-based screen for Hedgehog signaling
, 2017 The primary cilium organizes Hedgehog signaling, shapes embryonic development and is the unifying cause of the ciliopathies. We conducted a functional genomic screen for Hedgehog signaling by engineering antibiotic-based selection of Hedgehog-responsive ...
David K. Breslow +10 more
core +1 more source
Obesity-Related Ciliopathies: Focus on Advances of Biomarkers
Obesity-related ciliopathies, as a group of ciliopathies including Alström Syndrome and Bardet–Biedl Syndrome, exhibit distinct genetic and phenotypic variability. The understanding of these diseases is highly significant for understanding the
Yiguo Huang +6 more
core +1 more source