Associated Papers
Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies.
Möller-Kerutt A et al.
Life Science Alliance, 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
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Crumbs homolog 2 mutation in two siblings with steroid-resistant nephrotic syndrome: Two case reports.
Lu J et al.
World Journal of Clinical Cases, 2021
Crumbs2 Is an Essential Slit Diaphragm Protein of the Renal Filtration Barrier.
Möller-Kerutt A et al.
Journal of the American Society of Nephrology : Jasn, 2021
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
Expansion of phenotype and genotypic data in CRB2-related syndrome.
Lamont RE et al.
European Journal of Human Genetics : Ejhg, 2016
The Family of Crumbs Genes and Human Disease.
Slavotinek AM
Molecular Syndromology, 2016
Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.
Nolan D et al.
Journal of Child Neurology, 2016
26863999 (PubMed )
Supplement: supplemental_material.pdf
CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.
Slavotinek A et al.
American Journal of Human Genetics, 2015
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