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Nail-patella syndrome.
Sabnis SG, Antonovych TT, Argy WP, Rakowski TA, Gandy DR, Salcedo JR. Sabnis SG, et al. Clin Nephrol. 1980 Sep;14(3):148-53. Clin Nephrol. 1980. PMID: 7418282
The changes on electron microscopy were identical to those observed in nail-patella syndrome, a rare hereditary disease with ectodermal and mesodermal involvement, manifested as bony and nail abnormalities. Nephropathy is now a well established part of …
The changes on electron microscopy were identical to those observed in nail-patella syndrome, a rare hereditary disease …
Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.
Harita Y, Urae S, Akashio R, Isojima T, Miura K, Yamada T, Yamamoto K, Miyasaka Y, Furuyama M, Takemura T, Gotoh Y, Takizawa H, Tamagaki K, Ozawa A, Ashida A, Hattori M, Oka A, Kitanaka S. Harita Y, et al. Eur J Hum Genet. 2020 Oct;28(10):1414-1421. doi: 10.1038/s41431-020-0655-3. Epub 2020 May 26. Eur J Hum Genet. 2020. PMID: 32457516 Free PMC article.
Nail-patella syndrome (NPS) is a multi-system disorder characterized by hypoplastic nails, hypoplastic patella, skeletal deformities, and iliac horns, which is caused by heterozygous variants of LMX1B. ...
Nail-patella syndrome (NPS) is a multi-system disorder characterized by hypoplastic nails, hypoplastic patella, …
Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.
Pinto E Vairo F, Pichurin PN, Fervenza FC, Nasr SH, Mills K, Schmitz CT, Klee EW, Herrmann SM. Pinto E Vairo F, et al. BMC Nephrol. 2020 Aug 13;21(1):341. doi: 10.1186/s12882-020-02012-3. BMC Nephrol. 2020. PMID: 32791958 Free PMC article.
BACKGROUND: Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B) have been associated with focal segmental glomerulosclerosis (FSGS) without the extra-renal or ultrastructural manifestations of Nail-patella syndrome (NPS) known as Nail …
BACKGROUND: Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B) have been associated with focal segmental glomeruloscler …
An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail patella syndrome: report of a kindred.
Salcedo JR. Salcedo JR. Am J Med Genet. 1984 Nov;19(3):579-84. doi: 10.1002/ajmg.1320190321. Am J Med Genet. 1984. PMID: 6507504
Renal biopsy showed the histopathologic electron microscopic changes seen in hereditary osteo-onchyodysplasia (HOOD) [Hoyer et al, 1972; Bennet et al, 1973; DelPozo and Lapp 1970; Vernier et al, 1974; Morita et al, 1973] or "nail-patella syndrome." Neither th …
Renal biopsy showed the histopathologic electron microscopic changes seen in hereditary osteo-onchyodysplasia (HOOD) [Hoyer et al, 1972; Ben …
Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation.
Hall G, Lane B, Chryst-Ladd M, Wu G, Lin JJ, Qin X, Hauser ER, Gbadegesin R. Hall G, et al. Sci Rep. 2017 Jan 6;7:39933. doi: 10.1038/srep39933. Sci Rep. 2017. PMID: 28059119 Free PMC article.
Mutations in the LIM homeobox transcription factor 1-beta (LMX1B) are a cause of nail patellar syndrome, a condition characterized by skeletal changes, glaucoma and focal segmental glomerulosclerosis. Recently, a missense mutation (R246Q) in LMX1B was reported as a …
Mutations in the LIM homeobox transcription factor 1-beta (LMX1B) are a cause of nail patellar syndrome, a condition character …
LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy.
Isojima T, Harita Y, Furuyama M, Sugawara N, Ishizuka K, Horita S, Kajiho Y, Miura K, Igarashi T, Hattori M, Kitanaka S. Isojima T, et al. Nephrol Dial Transplant. 2014 Jan;29(1):81-8. doi: 10.1093/ndt/gft359. Epub 2013 Sep 15. Nephrol Dial Transplant. 2014. PMID: 24042019
BACKGROUND: Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder caused by LMX1B mutation. In patients with the renal lesions typical of NPS without skeletal or nail findings, it is described as nail-patella-like renal diseas …
BACKGROUND: Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder caused by LMX1B mutation. In patients wit …
A Novel LMX1B Variant Identified in a Patient Presenting with Severe Renal Involvement and Thin Glomerular Basement Membrane.
Morimoto N, Nagahama K, Mori T, Fujimaru T, Tsuura Y, Terai A, Tanabe M, Otani M, Shioji S, Hirasawa S, Aki S, Aoyagi M, Sohara E, Uchida S, Tanaka H. Morimoto N, et al. Nephron. 2021;145(6):776-782. doi: 10.1159/000518423. Epub 2021 Aug 26. Nephron. 2021. PMID: 34515165
We report a case of nail-patella syndrome (NPS) with unusual thinning of the glomerular basement membrane (GBM) associated with a novel heterozygous variant in the LMX1B gene. ...She underwent a second renal biopsy at the age of 56 owing to the presence of pe …
We report a case of nail-patella syndrome (NPS) with unusual thinning of the glomerular basement membrane (GBM) associa …
Case report: A novel R246L mutation in the LMX1B homeodomain causes isolated nephropathy in a large Chinese family.
Li X, Fan J, Fu R, Peng M, He J, Chen Q, Wang S, Chen C. Li X, et al. Medicine (Baltimore). 2024 Mar 8;103(10):e37442. doi: 10.1097/MD.0000000000037442. Medicine (Baltimore). 2024. PMID: 38457557 Free PMC article.
Advances in genetic testing have enabled the identification of hereditary kidney diseases, including those caused by LMX1B mutations. LMX1B mutations can lead to nail-patella syndrome (NPS) or nail-patella-like renal disease (NPLRD) with only re …
Advances in genetic testing have enabled the identification of hereditary kidney diseases, including those caused by LMX1B mutations. LMX1B …