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
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
Exome-Wide Search for Genes Associated With Central Nervous System Inflammatory Demyelinating Diseases Following CHIKV Infection: The Tip of the Iceberg.
Alves-Leon SV et al.
Frontiers in Genetics, 2021
33815474 (PubMed )
Supplement: Table_2.XLSX › Table_XX
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
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
Defects of CRB2 cause steroid-resistant nephrotic syndrome.
Ebarasi L et al.
American Journal of Human Genetics, 2015
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