Targeting E3 Ubiquitin Ligases and Deubiquitinases in Ciliopathy and Cancer
International Journal of Molecular Sciences, 2020 Cilia are antenna-like structures present in many vertebrate cells. These organelles detect extracellular cues, transduce signals into the cell, and play an essential role in ensuring correct cell proliferation, migration, and differentiation in a ...
Takashi Shiromizu +7 more
semanticscholar +1 more source
Bioinformatics‐Based Comparative Analysis of the Human Retina Proteome
PROTEOMICS – Clinical Applications, EarlyView.ABSTRACT Introduction The human retina relies on a complex network of proteins, many of which exhibit intrinsic disorder and liquid‐liquid phase separation (LLPS), enabling dynamic interactions for retinal function. Disruptions in these properties, along with missense mutations, have been linked to retinal diseases.
Colin K. Kim +8 more
wiley +1 more source
Survivin-induced abnormal ploidy contributes to cystic kidney and aneurysm formation [PDF]
, 2014 BACKGROUND: Cystic kidneys and vascular aneurysms are clinical manifestations seen in patients with polycystic kidney disease, a cilia-associated pathology (ciliopathy).
AbouAlaiwi, Wissam A. +12 more
core +2 more sources
Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency
Clinical Genetics, EarlyView.We report three people from two unrelated families with a clinical diagnosis of thoracic dystrophy characterized by short or missing ribs, narrow chest, and respiratory insufficiency. Affected people each have rare, biallelic, predicted deleterious missense substitutions in FGF4, a gene known to be essential for the formation of the thoracic skeleton ...
Laura M. Watts +8 more
wiley +1 more source
Analysis of cilia dysfunction phenotypes in zebrafish embryos depleted of origin recognition complex factors [PDF]
, 2019 Meier–Gorlin syndrome (MGS) is a rare, congenital primordial microcephalic dwarfism disorder. MGS is caused by genetic variants of components of the origin recognition complex (ORC) consisting of ORC1–6 and the pre-replication complex, which together ...
Casar Tena, Teresa +5 more
core +1 more source
Mitochondrial control of ciliary gene expression and structure in striatal neurons
The Journal of Physiology, EarlyView.Abstract figure legend Neurons drive animal behaviour by receiving and transmitting information and require energy, primarily supplied by mitochondria, to function. Additionally, neurons need to sense environmental changes to adapt, a function that is locally played by the primary cilia.
Dogukan H. Ulgen +5 more
wiley +1 more source
WDR19 : An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome [PDF]
, 2013 Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/99013/1/cge12196 ...
Arthurs, P +13 more
core +1 more source
Mechanisms of Nephronophthisis and Related Ciliopathies [PDF]
Nephron Experimental Nephrology, 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. These organelles are central to perception of the physical environment through detection of a diverse variety of extracellular signals such as growth factors, chemicals, light ...
Friedhelm Hildebrandt, Toby W. Hurd
openaire +2 more sources
Repeatability of Multiple Breath Washout in Pediatric Primary Ciliary Dyskinesia
Pediatric Pulmonology, Volume 60, Issue 7, July 2025.ABSTRACT Background Primary ciliary dyskinesia (PCD) is a motile ciliopathy characterized by abnormal mucociliary clearance and progressive lung disease. Spirometry is commonly used to monitor lung health and response to treatment, but it is known to be insensitive to early subclinical lung disease in PCD. Multiple breath washout is more sensitive than
Wallace B. Wee +7 more
wiley +1 more source
A Genotype–Phenotype Analysis of the Bardet–Biedl Syndrome in Puerto Rico
Clinical Ophthalmology, 2021 Gabriel A Guardiola,1 Fabiola Ramos,2 Natalio J Izquierdo,3 Armando L Oliver2 1Department of Medicine, Universidad Central del Caribe School of Medicine, Bayamon, PR, USA; 2Department of Ophthalmology, University of Puerto Rico School of Medicine ...
Guardiola GA +3 more
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