Single-cell profiling of trabecular meshwork identifies mitochondrial dysfunction in a glaucoma model that is protected by vitamin B3 treatment [PDF]
eLifeSince the trabecular meshwork (TM) is central to intraocular pressure (IOP) regulation and glaucoma, a deeper understanding of its genomic landscape is needed.
Nicholas Tolman +13 more
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Transcription Factors Define the Neuroanatomical Organization of the Medullary Reticular Formation [PDF]
Frontiers in Neuroanatomy, 2013 The medullary reticular formation contains large populations of inadequately described, excitatory interneurons that have been implicated in multiple homeostatic behaviors including breathing, viserosensory processing, vascular tone, and pain.
Paul A Gray
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A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing [PDF]
BMC NephrologyHereditary glomerular basement membrane disease is a group of conditions caused by genetic mutations in the development and maintenance of the glomerular basement membrane.
Winston Wing-Shing Fung +5 more
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LMX1B haploinsufficiency due to variants in the 5’UTR as a cause of Nail-Patella syndrome [PDF]
npj Genomic MedicineNail-Patella syndrome (NPS) is a rare autosomal dominant condition due to haploinsufficiency of LMX1B, caused by loss-of-function variants affecting the coding sequence, or partial/whole deletions of the gene.
Serena Cappato +11 more
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LMX1B is part of a transcriptional complex with PSPC1 and PSF. [PDF]
PLoS ONE, 2013 The LIM homeodomain transcription factor Lmx1b is essential for the development of the isthmic organizer and mesodiencephalic dopaminergic neurons. The uncoupling of Pitx3 and Th expression, in the Lmx1b null mutant, suggests that Lmx1b may act as a ...
Elisa J Hoekstra +3 more
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Lessons learned from a muscle study in nail-patella syndrome [PDF]
Orphanet Journal of Rare DiseasesBackground Nail-patella (NPS) syndrome is an autosomal dominant disorder caused by mutations in the LMX1B gene and manifests with involvement of kidneys, nails, eyes as well as skeletal musculature.
Luisa Paul +8 more
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Identification of a novel missense variant in the LMX1B gene associated with nail-patella syndrome in a Chinese family [PDF]
Frontiers in GeneticsBackgroundNail-patella syndrome (NPS) is an autosomal dominant disorder caused by the variants of the LMX1B gene, affecting several systems, including musculoskeletal, renal, and ocular systems. Despite the well-established genetic basis, the complicated
Qian Sun +6 more
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Orthopedic manifestations and management of nail-patella syndrome: a narrative review [PDF]
Frontiers in PediatricsNail-patella syndrome (NPS) is a rare autosomal dominant disorder characterized by skeletal and renal abnormalities. Diagnosis is primarily clinical, based on four main features: nail dysplasia, patellar and elbow abnormalities, and the presence of iliac
Amandine Beaugé +6 more
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Characterisation of lmx1b paralogues in zebrafish reveals divergent roles in skeletal, kidney and muscle development [PDF]
Biology OpenJoanna J. Moss +4 more
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Adult raphe-specific deletion of Lmx1b leads to central serotonin deficiency. [PDF]
PLoS ONE, 2011 The transcription factor Lmx1b is essential for the differentiation and survival of central serotonergic (5-HTergic) neurons during embryonic development. However, the role of Lmx1b in adult 5-HTergic neurons is unknown.
Ning-Ning Song +8 more
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