Associated Papers
Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.
Soliman NA et al.
Human Genetics, 2025
The clinical characteristics and genotype analysis of LAMB2 gene mutation.
Li G et al.
Frontiers in Medicine, 2024
Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease.
Suzuki R et al.
Kidney International Reports, 2023
Hiding in plain sight: genetics of childhood steroid-resistant nephrotic syndrome in Sub-Saharan Africa.
Williams AE et al.
Pediatric Nephrology (berlin, Germany), 2023
Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis.
Isaranuwatchai S et al.
Scientific Reports, 2023
Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing.
Bando H et al.
Frontiers in Endocrinology, 2022
Laminin β2 variants associated with isolated nephropathy that impact matrix regulation.
Kikkawa Y et al.
Jci Insight, 2021
Laminin Polymerization and Inherited Disease: Lessons From Genetics.
Shaw L et al.
Frontiers in Genetics, 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
Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism.
Tahoun M et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
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
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
Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR.
Lehnhardt A et al.
Pediatric Nephrology (berlin, Germany), 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