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 +9 more sources
Molecular Ontology Predicts Output Connections From the Nucleus of the Solitary Tract. [PDF]
J Comp NeurolThe nucleus of the solitary tract (NTS) integrates visceral inputs to coordinate appetite and digestion, breathing, and cardiorespiratory reflexes. Using cell‐type‐specific tracing, we show that excitatory Lmx1b neurons project broadly to brainstem and forebrain targets, whereas inhibitory output remains largely brainstem‐restricted. Catecholaminergic (
Gasparini S +5 more
europepmc +2 more sources
Proteasome inhibition alleviates proteinuria in Lmx1b knock-in mice with dysfunctional LIM domains [PDF]
Nature CommunicationsMutations in the transcription factor LMX1B have been identified as the cause of the autosomal-dominant disease nail-patella syndrome. It manifests in small or absent patellae and dysplastic or missing toe- and fingernails, but the prognosis of the ...
Joshua Hermens +11 more
doaj +2 more sources
Kaohsiung Journal of Medical Sciences, 2021 LIM homeobox transcription factor 1‐beta (LMX1B) has recently been found to be highly expressed in advanced gliomas and is associated with poor survival. However, the regulatory molecular mechanism of LMX1B expression in gliomas remains unclear.
Haozhe Piao
exaly +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
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
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
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