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
Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome.
Simaab A et al.
Medicina (kaunas, Lithuania), 2022
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
A case report of CRB2 mutation identified in a Chinese boy with focal segmental glomerulosclerosis.
Fan J et al.
Medicine, 2018
Long-term clinicopathologic observation in a case of steroid-resistant nephrotic syndrome caused by a novel Crumbs homolog 2 mutation.
Watanabe S et al.
Nephrology (carlton, Vic.), 2018
Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics.
Wiel L et al.
Human Mutation, 2017
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
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
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