Ciliopathy - Open Access .click

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Abstract This chapter provides a picture and clinical details of WDR44 Ciliopathy, an X-linked syndrome with mild to moderate intellectual disability, hypotonia, craniofacial dysmorphism, microcephaly, minor cardiac defects, skin findings, hand and foot anomalies, join hypermobility, cryptorchidism, and brain anomalies.
Charles E. Schwartz, Roger E. Stevenson, Tao Wang +2 more
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Ciliopathies and DNA damage

Current Opinion in Nephrology and Hypertension, 2015
In the past decade a wealth of publications have established the central role of cilia and centrosomes in the pathogenesis of cystic kidney diseases, associated or not with extrarenal symptoms. This review outlines recent findings that have unexpectedly linked ciliary and centrosomal proteins to DNA damage and repair and have opened new perspectives ...
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Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models

Cells, 2023
Michael Cheetham +2 more
exaly

A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype

Genes, 2021
Bahar Kaymakamzade +2 more
exaly

Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self‐tolerance

EMBO Reports, 2021
Zdenek Trachtulec +2 more
exaly

Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation

Clinics and Practice, 2022
Moustafa Magliyah, Doaa Milibari, Patrik Schatz +2 more
exaly

Retinal dystrophy as part of TTC21B-associated ciliopathy

Ophthalmic Genetics, 2021
Miriam Ehrenberg
exaly

Multimerization of Zika Virus-NS5 Causes Ciliopathy and Forces Premature Neurogenesis

Cell Stem Cell, 2020
Elisa Marti +2 more
exaly