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Role of Lmx1b and Wnt1 in mesencephalon and metencephalon development
Development, 2002The isthmus is the organizing center for the tectum and cerebellum. Fgf8 and Wnt1 are secreted molecules expressed around the isthmus. The function of Fgf8 has been well analyzed, and now accepted as the most important organizing signal. Involvement of Wnt1 in the isthmic organizing activity was suggested by analysis of Wnt1 knockout mice. But its role
Eiji, Matsunaga +2 more
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Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis
Pediatric Nephrology, 2020Myelin figures, or zebra bodies, seen on electron microscopy were historically considered pathognomonic of Fabry disease, a rare lysosomal storage disorder caused by alpha-galactosidase A deficiency and associated with X-linked recessive mode of inheritance.
Li, Lei +7 more
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LMX1B and the Nail Patella Syndrome
2008Abstract Nail patella syndrome (NPS) is a dominantly inherited skeletal malformation syndrome. Patients have characteristic features including nail and patella hypoplasia, elbow and knee deformities, nephropathy, and ocular defects. The condition is characterized by high penetrance, variable expressivity, and signi)cant intrafamilial ...
Roy Morello +2 more
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Digit tip regeneration: role of Lmx1b
2023Trabajo presentado en ISRB Webinars, celebrado en modalidad virtual el 06 de diciembre de 2022.
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Regulation of the actin cytoskeleton in podocytes by the transcription factor LMX1B
2020Mutations of LMX1B lead to the hereditary disease NPS, which is associated with renal symptoms (Witzgall, 2017). Within the kidney, the transcription factor LMX1B is exclusively expressed in podocytes and plays an essential role in the maturation and maintenance of the cell. Previous studies revealed not only the putative Lmx1b target genes Abra, Arl4c
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Lmx1b transcriptional regulation in limb development
Peer ...Zdral, Sofía +5 more
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Identification of a Novel Missense Mutation in the LMX1B Gene
We descovered a family with nial and patella dysformation. To further investigate the desease, whole exome sequencing was carried out. We found a novel missence muation on LMX1B gene, which was associated with nail-patella syndrome. So we upload the consequence to help the diagnose and identification of this disease.openaire +1 more source
LMX1B Locus Associated with Low-Risk Baseline Glaucomatous Features in the POAAGG Study
Genes, 2021Maxwell Pistilli +2 more
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