Associated Papers
Case report: A novel R246L mutation in the LMX1B homeodomain causes isolated nephropathy in a large Chinese family.
Li X et al.
Medicine, 2024
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
Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.
Harita Y et al.
European Journal of Human Genetics : Ejhg, 2020
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
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 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