Associated Papers
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.
Schneider R et al.
Genes & Diseases, 2025
39584075 (PubMed )
Supplement: mmc2.pdf
Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease.
Suzuki R et al.
Kidney International Reports, 2023
37705905 (PubMed )
Supplement: mmc1.pdf
Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.
Thakor JM et al.
Molecular Biology Reports, 2021
Laminin β2 variants associated with isolated nephropathy that impact matrix regulation.
Kikkawa Y et al.
Jci Insight, 2021
Laminin β2 gene missense mutation produces endoplasmic reticulum stress in podocytes.
Chen YM et al.
Journal of the American Society of Nephrology : Jasn, 2013
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
Büscher AK et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2010
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
Matejas V et al.
Human Mutation, 2010
Ophthalmological aspects of Pierson syndrome.
Bredrup C et al.
American Journal of Ophthalmology, 2008
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.
Hasselbacher K et al.
Kidney International, 2006
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