Associated Papers
Importance of family history and health checkup for school-aged children for type IV collagen-associated nephropathy in hereditary kidney disease.
Kawamoto R et al.
Journal of Nephrology, 2025
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
Hereditary focal segmental glomerulosclerosis associated with an LMX1B mutation in the absence of extrarenal manifestations.
Kim DK et al.
Kidney Research and Clinical Practice, 2025
LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome.
Cappato S et al.
Npj Genomic Medicine, 2025
Identification of a novel missense variant in the LMX1B gene associated with nail-patella syndrome in a Chinese family.
Sun Q et al.
Frontiers in Genetics, 2025
Case report: A novel R246L mutation in the LMX1B homeodomain causes isolated nephropathy in a large Chinese family.
Li X et al.
Medicine, 2024
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.
Ben-Moshe Y et al.
Kidney International Reports, 2023
New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.
Chen Y et al.
Molecular Genetics & Genomic Medicine, 2023
Simultaneous kidney and pancreas transplantation in a patient with nail-patella syndrome and insulin-dependent diabetes.
Sloane P 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
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients.
Al-Hamed MH et al.
Human Mutation, 2022
LMX1B-associated nephropathy that showed myelin figures on electron microscopy.
Shimohata H et al.
Cen Case Reports, 2021
A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype.
Oe Y et al.
Internal Medicine (tokyo, Japan), 2021
Whole-Exome Sequencing Solved over 2-Decade Kidney Disease Enigma.
Isaranuwatchai S et al.
Nephron, 2021
A Novel LMX1B Variant Identified in a Patient Presenting with Severe Renal Involvement and Thin Glomerular Basement Membrane.
Morimoto N et al.
Nephron, 2021
Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.
Harita Y et al.
European Journal of Human Genetics : Ejhg, 2020
Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.
Lei L et al.
Pediatric Nephrology (berlin, Germany), 2020
Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.
Pinto E Vairo F et al.
Bmc Nephrology, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.
Yao T et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2019
LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes.
Andeen NK et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2018
Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.
Harita Y et al.
Pediatric Nephrology (berlin, Germany), 2017
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Bierzynska A et al.
Kidney International, 2017
Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation.
Hall G et al.
Scientific Reports, 2017
Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.
Konomoto T et al.
Nephrology (carlton, Vic.), 2016
A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.
Edwards N et al.
Clinical Kidney Journal, 2015
A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].
Cross SH et al.
Plos Genetics, 2014
LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy.
Isojima T et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014
LMX1B mutations with nails and kneecaps: a new paradigm?
Lemley KV
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014
LMX1B mutations cause hereditary FSGS without extrarenal involvement.
Boyer O et al.
Journal of the American Society of Nephrology : Jasn, 2013
An expanding universe of FSGS genes and phenotypes: LMX1B mutations cause familial autosomal dominant FSGS lacking extrarenal manifestations.
Kopp JB
Journal of the American Society of Nephrology : Jasn, 2013