Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
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DOI: 10.1038/s41467-021-25844-5
Abstract: LMX1B haploinsufficiency causes Nail-patella syndrome (NPS; MIM 161200), characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease, and glaucoma. Accordingly in mice, Lmx1b has been shown to play crucial roles in the development of the… read more here.
Keywords: patella syndrome; limb; nail patella; lmx1b ... See more keywords
Reelin dorsal horn neurons co‐express Lmx1b and are mispositioned in disabled‐1 mutant mice
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DOI: 10.1111/ejn.14847
Abstract: Mice missing either Reelin or Disabled‐1 (Dab1) exhibit dorsal horn neuronal positioning errors and display heat hypersensitivity and mechanical insensitivity. Reelin binds its receptors, apolipoprotein E receptor 2 and very low‐density lipoprotein receptor, leading to… read more here.
Keywords: horn neurons; dorsal horn; lmx1b; reelin lmx1b ... See more keywords
Nail-Patella syndrome with early onset end-stage renal disease in a child with a novel heterozygous missense mutation in the LMX1B homeodomain: A case report
Sign Up to like & getrecommendations! Published in 2020 at "Biomedical Reports"
DOI: 10.3892/br.2020.1356
Abstract: Nail-Patella syndrome (NPS) is an inherited disease characterized by nail and skeletal anomalies, nephropathy and glaucoma. The diagnosis of NPS is based on clinical findings, including hypoplastic or absent patella, dystrophic nails, dysplasia of the… read more here.
Keywords: renal disease; lmx1b; stage renal; disease ... See more keywords