Associated Papers
Renal Phenotype Variations among Families with Autosomal Alport Syndrome: Potential Role of Modifier Genes.
Ibrahim A et al.
Kidney360, 2025
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
Synaptopodin deficiency exacerbates kidney disease in a mouse model of Alport syndrome.
Ning L et al.
American Journal of Physiology. Renal Physiology, 2021
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
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
Chimeric protein identification of dystrophic, Pierson and other laminin polymerization residues.
McKee KK 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
Distinct functions of the laminin β LN domain and collagen IV during cardiac extracellular matrix formation and stabilization of alary muscle attachments revealed by EMS mutagenesis in Drosophila.
Hollfelder D et al.
Bmc Developmental Biology, 2014
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
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
Matejas V et al.
Human Mutation, 2010
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