Associated Papers
Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease.
Suzuki R et al.
Kidney International Reports, 2023
Laminin β2 variants associated with isolated nephropathy that impact matrix regulation.
Kikkawa Y et al.
Jci Insight, 2021
Endoplasmic Reticulum-Associated Biomarkers for Molecular Phenotyping of Rare Kidney Disease.
Li C et al.
International Journal of Molecular Sciences, 2021
A deletion in the N-terminal polymerizing domain of laminin β2 is a new mouse model of chronic nephrotic syndrome.
Funk SD et al.
Kidney International, 2020
Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology.
Park SJ et al.
Pediatric Nephrology (berlin, Germany), 2019
Alport syndrome and Pierson syndrome: Diseases of the glomerular basement membrane.
Funk SD et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2018
Pathogenicity of a Human Laminin β2 Mutation Revealed in Models of Alport Syndrome.
Funk SD et al.
Journal of the American Society of Nephrology : Jasn, 2018
Basement Membrane Defects in Genetic Kidney Diseases.
Chew C et al.
Frontiers in Pediatrics, 2018
Focal segmental glomerulosclerosis: molecular genetics and targeted therapies.
Chen YM et al.
Bmc Nephrology, 2015
Genetic causes of proteinuria and nephrotic syndrome: impact on podocyte pathobiology.
Akchurin O et al.
Pediatric Nephrology (berlin, Germany), 2015
Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome.
Bull KR et al.
The Journal of Pathology, 2014
Laminin β2 gene missense mutation produces endoplasmic reticulum stress in podocytes.
Chen YM et al.
Journal of the American Society of Nephrology : Jasn, 2013
Glomerular basement membrane and related glomerular disease.
Chen YM et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2012
Crystal structures of the network-forming short-arm tips of the laminin β1 and γ1 chains.
Carafoli F et al.
Plos One, 2012
A missense LAMB2 mutation causes congenital nephrotic syndrome by impairing laminin secretion.
Chen YM et al.
Journal of the American Society of Nephrology : Jasn, 2011
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
[LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia].
Zurowska A et al.
Przeglad Lekarski, 2006