Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
CRB2 depletion induces YAP signaling and disrupts mechanosensing in podocytes.
Sun Y et al.
American Journal of Physiology. Renal Physiology, 2025
CRB2 Depletion Induces YAP Signaling and Disrupts Mechanosensing in Podocytes.
Sun Y et al.
Biorxiv : the Preprint Server for Biology, 2024
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
Tessier A et al.
Acta Neuropathologica Communications, 2023
Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.
Adutwum M et al.
Clinical Genetics, 2023
Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome.
Simaab A et al.
Medicina (kaunas, Lithuania), 2022
Rare deleterious germline variants and risk of lung cancer.
Liu Y et al.
Npj Precision Oncology, 2021
33594163 (PubMed )
Supplement: 41698_2021_146_MOESM2_ESM.pdf
Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome.
Udagawa T et al.
Pediatric Nephrology (berlin, Germany), 2017
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Bierzynska A et al.
Kidney International, 2017
Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
Jaron R et al.
Clinical Genetics, 2016
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