The Golgi matrix protein giantin is required for normal cilia function in zebrafish [PDF]
, 2017 The Golgi is essential for glycosylation of newly synthesised proteins including almost all cell-surface and extracellular matrix proteoglycans. Giantin, encoded by the golgb1 gene, is a member of the golgin family of proteins that reside within the ...
Bergen, Dylan +3 more
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Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome [PDF]
, 2023 Dominyka Batkovskyte +8 more
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Morphological and Molecular Defects in Human Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis [PDF]
, 2019 X-linked juvenile retinoschisis (XLRS), linked to mutations in the RS1 gene, is a degenerative retinopathy with a retinal splitting phenotype. We generated human induced pluripotent stem cells (hiPSCs) from patients to study XLRS in a 3D retinal organoid
Chang, Chia-Ching +18 more
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Combatting renal ciliopathies [PDF]
Cilia, 2012 A hallmark of many ciliopathies are renal cysts, ultimately disrupting kidney architecture and resulting in end-stage renal disease as the most common cause of mortality. Yet despite being the largest demand for renal replacement therapy (ie. dialysis, kidney transplantation) in young patients, the exact etiology of nephronophthisis (NPHP) and ...
openaire +1 more source
Illumination of understudied ciliary kinases
Frontiers in Molecular BiosciencesCilia are cellular signaling hubs. Given that human kinases are central regulators of signaling, it is not surprising that kinases are key players in cilia biology.
Raymond G. Flax +10 more
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A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies [PDF]
, 2020 Liliya Nazlamova +7 more
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Motile cilia defects in diseases other than primary ciliary dyskinesia:The contemporary diagnostic and research role for transmission electron microscopy [PDF]
, 2017 Ultrastructural studies have underpinned the cell biological and clinical investigations of the varied roles of motile cilia in health and disease, with a long history since the 1950s.
Afzelius BA +6 more
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CellsBackground: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by recurrent sinopulmonary infections due to motile cilia defects. The disease is genetically heterogeneous, with abnormalities in structural ciliary proteins.
İlker Levent Erdem +9 more
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Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia [PDF]
, 2020 Madeline Louise Reilly +17 more
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Cystic kidney diseases: many ways to form a cyst [PDF]
, 2012 Renal cysts are a common radiological finding in both adults and children. They occur in a variety of conditions, and the clinical presentation, management, and prognosis varies widely.
Loftus, H., Ong, A.C.M.
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