Adamts17 is involved in skeletogenesis through modulation of BMP-Smad1/5/8 pathway.

Adamts17 is involved in skeletogenesis through modulation of BMP-Smad1/5/8 pathway. Cell Mol Life Sci. 2019 Jun 14;: Authors: Oichi T, Taniguchi Y, Soma K, Oshima Y, Yano F, Mori Y, Chijimatsu R, Kim-Kaneyama JR, Tanaka S, Saito T Abstract Fibrillin microfibrils are ubiquitous elements of extracellular matrix assemblies that play crucial roles in regulating the bioavailability of growth factors of the transforming growth factor beta superfamily. Recently, several "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) proteins were shown to regulate fibrillin microfibril function. Among them, ADAMTS17 is the causative gene of Weill-Marchesani syndrome (WMS) and Weill-Marchesani-like syndrome, of which common symptoms are ectopia lentis and short stature. ADAMTS17 has also been linked to height variation in humans; however, the molecular mechanisms whereby ADAMTS17 regulates skeletal growth remain unknown. Here, we generated Adamts17-/- mice to examine the role of Adamts17 in skeletogenesis. Adamts17-/- mice recapitulated WMS, showing shorter long bones, brachydactyly, and thick skin. The hypertrophic zone of the growth plate in Adamts17-/- mice was shortened, with enhanced fibrillin-2 deposition, suggesting increased incorporation of fibrillin-2 into microfibrils. Comprehensive gene expression analysis of growth plates using laser microdissection and RNA sequencing indicated alteration of the bone morphogenetic protein (BMP) s...
Source: Cellular and Molecular Life Sciences : CMLS - Category: Cytology Authors: Tags: Cell Mol Life Sci Source Type: research

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The original version of this article unfortunately contained a mistake in the acknowledgement section.
Source: Journal of Neurology - Category: Neurology Source Type: research
Source: Journal of Neurology - Category: Neurology Source Type: research
Source: Journal of Neurology - Category: Neurology Source Type: research
Source: Journal of Neurology - Category: Neurology Source Type: research
ConclusionsPatients diagnosed with neurological disease sometimes have a functional diagnosis at follow-up which, with hindsight, better explains the original symptoms. This occurs at a frequency similar to the misdiagnosis of ‘organic’ neurological disease as functional disorder. Misdiagnosis can harm patients in either direction, especially as we enter an era of evidence-based treatment for functional neurological disorders.
Source: Journal of Neurology - Category: Neurology Source Type: research
AbstractEndovascular therapy (EVT) trials enrolled ischemic stroke patients with good pre-stroke functional status. However, this information needed for rapid decision-making is commonly lacking in clinical practice. We hypothesized that initial misjudgment of pre-stroke functional status attenuates clinical outcomes of EVT. Data were derived from our prospective registry of ischemic stroke patients undergoing EVT for anterior circulation large vessel occlusion (01/2016 –12/2017). Considering all information accumulated during hospital course, pre-stroke modified Rankin scale (mRS) was independently re-assessed and c...
Source: Journal of Neurology - Category: Neurology Source Type: research
AbstractFrontotemporal dementia (FTD) is a highly heritable group of neurodegenerative disorders, with around 30% of patients having a strong family history. The majority of that heritability is accounted for by autosomal dominant mutations in the chromosome 9 open reading frame 72 (C9orf72), progranulin (GRN), and microtubule-associated protein tau (MAPT) genes, with mutations more rarely seen in a number of other genes. This review will discuss the recent updates in the field of genetic FTD. Age at symptom onset in genetic FTD is variable with recently identified genetic modifiers includingTMEM106B (inGRN carriers partic...
Source: Journal of Neurology - Category: Neurology Source Type: research
AbstractObjectiveTraumatic brain injury (TBI) is a leading cause of morbidity and mortality worldwide. Metformin is reported to have pleiotropic neuroprotective effects through anti-inflammatory, antioxidative, and anti-ischemic activity, and improvements in vascular hemodynamics and endothelial function. The aim of this study is to examine the efficacy and safety of metformin therapy in severe TBI patients.MethodsThis single-blind, parallel-group, randomized controlled trial enrolled adult TBI patients. Of 158 trauma patients assessed, 30 met the eligibility criteria and were randomly allocated in a one-to-one ratio to re...
Source: Journal of Neurology - Category: Neurology Source Type: research
AbstractPompe disease is a rare autosomal-recessive disorder characterised by limb-girdle myopathy and respiratory weakness in the late-onset form (LOPD). Various mutations in the acid alpha-glucosidase gene lead to toxic lysosomal and extra-lysosomal glycogen accumulation in all organs due to ineffective glycogen clearance by the encoded enzyme. Only one randomized trial demonstrated beneficial effects of respiratory function and meters walked in the 6-min walking test with enzyme replacement therapy (ERT). These results were confirmed in several retrospective and prospective observations and in meta-analyses. Due to a po...
Source: Journal of Neurology - Category: Neurology Source Type: research
In conclusion, cerebral hemispheric infarction limited to the PIVC or TPSVC does not necessarily cause vertigo. However, unilateral hemispheric infarctions, restricted to the areas belonging to the vestibular cortical network may cause vestibul ar symptoms. The lesions responsible for vestibular symptoms are located more often in the right hemisphere.
Source: Journal of Neurology - Category: Neurology Source Type: research
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