Results 11 to 20 of about 1,464 (120)
Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project [PDF]
Frontiers in Genetics, 2019 Cilia are highly specialized cellular organelles that serve multiple functions in human development and health. Their central importance in the body is demonstrated by the occurrence of a diverse range of developmental disorders that arise from defects ...
Gabrielle Wheway, Hannah M. Mitchison
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eLife, 2022 Primary ciliary defects cause a group of developmental conditions known as ciliopathies. Here, we provide mechanistic insight into ciliary ubiquitin processing in cells and for mouse model lacking the ciliary protein Mks1. In vivo loss of Mks1 sensitises
Katarzyna Szymanska +8 more
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Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome
Frontiers in Genetics, 2022 Cilia are quasi-ubiquitous microtubule-based sensory organelles, which play vital roles in signal transduction during development and cell homeostasis.
Tamara D. S. Rusterholz +5 more
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Mouse models of ciliopathies: the state of the art
Disease Models & Mechanisms, 2012 The ciliopathies are an apparently disparate group of human diseases that all result from defects in the formation and/or function of cilia. They include disorders such as Meckel-Grüber syndrome (MKS), Joubert syndrome (JBTS), Bardet-Biedl syndrome (BBS)
Dominic P. Norris, Daniel T. Grimes
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Frontiers in Genetics, 2022 Axonemal dynein motors are large multi-subunit complexes that drive ciliary movement. Cytoplasmic assembly of these motor complexes involves several co-chaperones, some of which are related to the R2TP co-chaperone complex.
Jennifer Lennon +3 more
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Orofacial-digital syndrome type 1 with patchy scalp alopecia in an Indian child
Indian Journal of Paediatric Dermatology, 2021 Introduction: Oral-facial-digital syndrome (OFDS) is a rare type of ectodermal dysplasias characterized by malformations of the face, oral cavity, and digits. The OFDS type 1 is most common and has an X-linked dominant inheritance. Case report: We report
Sameeksha Chand
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Tectonic Proteins Are Important Players in Non-Motile Ciliopathies
Cellular Physiology and Biochemistry, 2018 Primary cilium is a ubiquitous, tiny organelle on the apex of the mammalian cells. Non-motile (primary) ciliopathies are diseases caused by the dysfunction of the primary cilium and they are characterized by diverse clinical and genetic heterogeneity. To
Siyi Gong +5 more
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Centriolar Protein C2cd3 Is Required for Craniofacial Development
Frontiers in Cell and Developmental Biology, 2021 The primary cilium is a ubiquitous, microtubule-based cellular organelle. Primary cilia dysfunction results in a group of disorders termed ciliopathies. C2 domain containing 3 centriole elongation regulator (C2cd3), encodes a centriolar protein essential
Ching-Fang Chang +9 more
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Clinical Case Reports, 2022 We report a Chinese patient with JATD presenting a mild skeletal phenotype and with renal insufficiency as the initial symptom of the disease. A novel homozygous c.2789C>T (p.S930L) variant in the WDR60 gene was identified.
Xiangzhong Zhao +6 more
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Reversal of ciliary mechanisms of disassembly rescues olfactory dysfunction in ciliopathies
JCI Insight, 2022 Ciliopathies are a class of genetic diseases resulting in cilia dysfunction in multiple organ systems, including the olfactory system. Currently, there are no available curative treatments for olfactory dysfunction and other symptoms in ciliopathies. The
Chao Xie +6 more
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