Cell Reports, 2023 Summary: Mammalian digit tip regeneration is linked to the presence of nail tissue, but a nail-explicit model is missing. Here, we report that nail-less double-ventral digits of ΔLARM1/2 mutants that lack limb-specific Lmx1b enhancers fail to regenerate.
Endika Haro +2 more
exaly +8 more sources
AAV-PHP.eB Peripheral Delivery and Central Expression in Cre Mice. [PDF]
J Comp NeurolRetro‐orbital injection of AAV‐PHP.eB‐FLEX‐tdTomato into four different strains of Cre mice produced various and distinct patterns of transduction efficiency and tropism across brain regions and cell types. We found many target neurons expressing tdTomato in most but not all strains, along with a low level of nonspecific (Cre‐independent) expression ...
Zhu H, Geerling JC.
europepmc +2 more sources
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
doaj +2 more sources
Case report: dual pathology of LMX1B-associated nephropathy and iga nephropathy in a middle-aged woman [PDF]
BMC NephrologyBackground Proteinuria is a common manifestation of glomerular disease. Advances in genetic testing have improved recognition of hereditary nephropathies such as LMX1B-associated nephropathy.
Ahsan Sajjad +6 more
doaj +2 more sources
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
doaj +2 more sources
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
doaj +2 more sources
Multimodal Breathing Control: Pontomedullary Mechanisms and Current Perspectives. [PDF]
BioessaysBreathing is typically automatic, ensuring homeostasis, but it is also shaped by emotion, behavior, and volition. This review synthesizes our current understanding of the flexible neural mechanisms that enable multimodal control of breathing, emphasizing the role of pontomedullary circuits.
Baertsch NA +4 more
europepmc +2 more sources
Lmx1b Influences Correct Post-mitotic Coding of Mesodiencephalic Dopaminergic Neurons
Frontiers in Molecular Neuroscience, 2019 The Lim Homeobox transcription factor 1 beta (LMX1b) has been identified as one of the transcription factors important for the development of mesodiencephalic dopaminergic (mdDA) neurons.
Iris Wever +2 more
exaly +3 more sources
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
doaj +2 more sources
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
doaj +2 more sources