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Stem Cell Reports, 2018 Summary: Retinitis pigmentosa (RP) is an irreversible, inherited retinopathy in which early-onset nyctalopia is observed. Despite the genetic heterogeneity of RP, RPGR mutations are the most common causes of this disease.
Wen-Li Deng, Mei-Ling Gao, Huan Zhao
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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Nature Genetics, 2011 Ciliary dysfunction leads to a broad range of overlapping phenotypes, collectively termed ciliopathies. This grouping is underscored by genetic overlap, where causal genes can also contribute modifier alleles to clinically distinct disorders.
Bill H Diplas +2 more
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Retinal dystrophy as part of TTC21B-associated ciliopathy
Ophthalmic Genetics, 2021Tamar Ben-Yosef, Miriam Ehrenberg
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Multimerization of Zika Virus-NS5 Causes Ciliopathy and Forces Premature Neurogenesis
Cell Stem Cell, 2020Murielle Saade +2 more
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Skeletal ciliopathy: pathogenesis and related signaling pathways
Molecular and Cellular Biochemistry, 2023Heng Jiang, Jiang Heng, Zhou Xuhui
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Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy
Clinical Genetics, 2020Marina Eskin-Schwartz +2 more
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WDR11‐mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome
EMBO Reports, 2018Masatake Araki +2 more
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Sperm dysfunction and ciliopathy
Reproductive Medicine and Biology, 2016Kazuo Inaba, Katsutoshi Mizuno
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