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Condition: Reflex Sympathetic Dystrophy
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Total 132 results found since Jan 2013.
Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy
Current genetic and molecular evidence best supports an epigenetic mechanism for facioscapulohumeral muscular dystrophy (FSHD), whereby de-repression of the D4Z4 macrosatellite array leads to aberrant expression of the DUX4 transcription factor in skeletal muscle. This de-repression is triggered by either array contraction or (more rarely) by mutation of the SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) gene. Activation of DUX4 targets, including germline genes and several mammalian retrotransposons, then drives pathogenesis. A direct role for DUX4 mRNA in suppression of nonsense-mediate...
Source: Human Molecular Genetics - September 16, 2015 Category: Genetics & Stem Cells Authors: Hewitt, J. E. Tags: INVITED REVIEWS Source Type: research
Identification of transcripts regulated by CUG-BP, Elav-like family member 1 (CELF1) in primary embryonic cardiomyocytes by RNA-seq
Publication date: December 2015 Source:Genomics Data, Volume 6 Author(s): Yotam Blech-Hermoni, Andrea N. Ladd CUG-BP, Elav-like family member 1 (CELF1) is a multi-functional RNA binding protein that regulates pre-mRNA alternative splicing in the nucleus, as well as polyadenylation status, mRNA stability, and translation in the cytoplasm [1]. Dysregulation of CELF1 has been implicated in cardiomyopathies in myotonic dystrophy type 1 and diabetes [2–5], but the targets of CELF1 regulation in the heart have not been systematically investigated. We previously demonstrated that in the developing heart CELF1 expression is ...
Source: Genomics Data - August 25, 2015 Category: Genetics & Stem Cells Source Type: research
DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the aberrant expression of the DUX4 transcription factor in skeletal muscle. The DUX4 retrogene is encoded in the D4Z4 macrosatellite repeat array, and smaller array size or a mutation in the SMCHD1 gene results in inefficient epigenetic repression of DUX4 in skeletal muscle, causing FSHD1 and FSHD2, respectively. Previously we showed that the entire D4Z4 repeat is bi-directionally transcribed with the generation of small si- or miRNA-like fragments and suggested that these might suppress DUX4 expression through the endogenous RNAi pathway. Here we show that exogen...
Source: Human Molecular Genetics - August 6, 2015 Category: Genetics & Stem Cells Authors: Lim, J.-W., Snider, L., Yao, Z., Tawil, R., Van Der Maarel, S. M., Rigo, F., Bennett, C. F., Filippova, G. N., Tapscott, S. J. Tags: ARTICLES Source Type: research
Abstract 3266: Inhibition of Rho-associated kinase 2 suppresses MYCN expression and induces differentiation of neuroblastoma
Conclusions: Our results show the significance of the non-canonical/PCP signaling cascade in neuroblastoma development and progression. Furthermore, ROCK inhibition suppress the growth of neuroblastoma in preclinical models and provide a novel option for improved treatment of high-risk neuroblastoma.Citation Format: Cecilia Dyberg, David Forsberg, Susanne Fransson, Jessika Lännerholm Palm, Bjorn Helge Haug, Baldur Sveinbjornsson, Tommy Martinsson, Per Kogner, John Inge Johnsen, Malin Wickstrom. Inhibition of Rho-associated kinase 2 suppresses MYCN expression and induces differentiation of neuroblastoma. [abstract]. In: Pr...
Source: Cancer Research - August 2, 2015 Category: Cancer & Oncology Authors: Dyberg, C., Forsberg, D., Fransson, S., Lannerholm Palm, J., Haug, B. H., Sveinbȷornsson, B., Martinsson, T., Kogner, P., Johnsen, J. I., Wickstrom, M. Tags: Tumor Biology Source Type: research
Abstract 475: Identification of SHANK2 as a tumor suppressor disrupted by recurrent somatic structural variation (SV) in neuroblastoma
Background. Neuroblastoma is a malignancy of the developing sympathetic nervous system which exacts significant morbidity and mortality in children. Large sequencing efforts have revealed a relative paucity of somatic point mutations in this and other childhood cancers. Structural variations (SVs) including translocations, inversions, deletions, duplications, and other complex events can occur in germline DNA or be acquired somatically in tumors. Recurrent somatic SVs affecting known genes are likely to be functional and may elucidate novel tumor suppressors or oncogenes.Methods. We are performing whole-genome sequencing (...
Source: Cancer Research - August 2, 2015 Category: Cancer & Oncology Authors: Conkrite, K., Ferraro, N., McDaniel, L., Oldridge, D. A., Attiyeh, E., Asgharzadeh, S., Diamond, M., Guidry Auvil, J., Davidsen, T., Smith, M., London, W. B., Seeger, R., Khan, J., Gerhard, D. S., Maris, J. M., Diskin, S. J. Tags: Tumor Biology Source Type: research
Abstract 191: The role of microRNAs in the epigenetic silencing of CHD5, a tumor suppressor in neuroblastoma
Background: Neuroblastoma (NB) is a tumor of the sympathetic nervous system that is the most common extracranial solid tumor of childhood. NBs show remarkable clinical heterogeneity, and we, along with others, have identified different patterns of genomic change that underlie these diverse clinical behaviors. We first identified 1p deletion as a characteristic change in advanced stage NBs. CHD5, a tumor suppressor gene, was first identified because of its location on 1p36. However, mutation of the remaining allele of CHD5 is rare in these tumors. Therefore, it is likely that epigenetic mechanisms play important roles in CH...
Source: Cancer Research - August 2, 2015 Category: Cancer & Oncology Authors: Naraparaju, K., Kolla, V., Zhuang, T., Higashi, M., Blobel, G. A., Brodeur, G. M. Tags: Molecular and Cellular Biology Source Type: research
Abstract 336: CD73 induces actin polymerization to protect epithelial cell-cell adhesions: Loss of this physiological reflex in endometrial carcinoma
We previously reported that ecto-5′nucleotidase (CD73)-generated adenosine prevents hypoxia-mediated breakdown of the epithelial barrier in normal endometrium in vivo and that CD73 is down-regulated in advanced stage endometrial carcinomas (EC). Loss of CD73 occurred specifically in the carcinoma cells. CD73-generated adenosine is heightened in tissues overwhelmed by inflammation, ischemia, or hypoxia. We hypothesized that the loss of CD73 in EC supports tumor progression by negating the reflex of extracellular adenosine to protect epithelial cell integrity. CD73 was associated with epithelial differentiation in vitro in...
Source: Cancer Research - August 2, 2015 Category: Cancer & Oncology Authors: Bowser, J. L., Blackburn, M. R., Dunner, K., Broaddus, R. R. Tags: Tumor Biology Source Type: research
Alpha1-Adrenergic Receptor Activation Stimulates Calcium Entry and Proliferation via TRPC6 Channels in Cultured Human Mesangial Cells
Conclusion: TRPC6 channels are involved in α1-AR activation-induced Ca2+ entry, which mediates proliferation via ERK signaling in human MCsCell Physiol Biochem 2015;36:1928-1938
Source: Cellular Physiology and Biochemistry - July 18, 2015 Category: Cytology Source Type: research
Reactive Oxygen Species are involved in BMP-Induced Dendritic Growth in Cultured Rat Sympathetic Neurons
Publication date: Available online 14 June 2015 Source:Molecular and Cellular Neuroscience Author(s): Vidya Chandrasekaran , Charlotte Lea , Jose Carlo Sosa , Dennis Higgins , Pamela J. Lein Previous studies have shown that bone morphogenetic proteins (BMPs) promote dendritic growth in sympathetic neurons; however, the downstream signaling molecules that mediate the dendrite promoting activity of BMPs are not well characterized. Here we test the hypothesis that reactive oxygen species (ROS)-mediated signaling links BMP receptor activation to dendritic growth. In cultured rat sympathetic neurons, exposure to any of three ...
Source: Molecular and Cellular Neuroscience - June 16, 2015 Category: Neuroscience Source Type: research
Transcriptional co-activator TAZ sustains proliferation and tumorigenicity of neuroblastoma by targeting CTGF and PDGF-β.
Authors: Wang M, Liu Y, Zou J, Yang R, Xuan F, Wang Y, Gao N, Cui H
Abstract
Neuroblastoma is a common childhood malignant tumor originated from the neural crest-derived sympathetic nervous system. A crucial event in the pathogenesis of neuroblastoma is to promote proliferation of neuroblasts, which is closely related to poor survival. However, mechanisms for regulation of cell proliferation and tumorigenicity in neuroblastoma are not well understood. Here, we report that overexpression of TAZ in neuroblastoma BE(2)-C cells causes increases in cell proliferation, self renewal and colony formation, which was restore...
Source: Oncotarget - May 6, 2015 Category: Cancer & Oncology Tags: Oncotarget Source Type: research
Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia
Ciliopathies such as cranioectodermal dysplasia, Sensenbrenner syndrome, short‐rib polydactyly, and Jeune syndrome are associated with respiratory complications arising from rib cage dysplasia. While such ciliopathies have been demonstrated to involve primary cilia defects, we show motile cilia dysfunction in the airway of a patient diagnosed with cranioectodermal dysplasia. While this patient had mild thoracic dystrophy not requiring surgical treatment, there was nevertheless newborn respiratory distress, restrictive airway disease with possible obstructive airway involvement, repeated respiratory infections, and atelec...
Source: American Journal of Medical Genetics Part A - April 25, 2015 Category: Genetics & Stem Cells Authors: You Li, Andrea S. Garrod, Suneeta Madan‐Khetarpal, Gayathri Sreedher, Marianne McGuire, Hisato Yagi, Nikolai T. Klena, George C. Gabriel, Omar Khalifa, Maliha Zahid, Ashok Panigrahy, Daniel J. Weiner, Cecilia W. Lo Tags: Research Article Source Type: research
GSE62085 The Pitt-Hopkins syndrome/schizophrenia susceptibility gene TCF4 regulates human neural progenitor cell proliferation
Contributors : Matthew J Hill ; Katherinne Navarrete ; Aleksandra Maruszak ; Gemma M McLaughlin ; Richard Killick ; James Docker ; Ricardo Sainz Fuertes ; Brenda P Williams ; Nicholas J BraySeries Type : Expression profiling by arrayOrganism : Homo sapiensTranscription factor 4 (TCF4, also known as E2-2, SEF2, ITF2 and bHLHb19) is an E-protein basic helix-loop-helix transcription factor that is highly expressed in foetal as well as adult human brain. Common variants in the TCF4 gene show genome-wide significant association with schizophrenia and the eye disease Fuchs corneal dystrophy, while rare TCF4 deletions and loss-of...
Source: GEO: Gene Expression Omnibus - April 1, 2015 Category: Genetics & Stem Cells Tags: Expression profiling by array Homo sapiens Source Type: research
Local knockdown of the NaV1.6 sodium channel reduces pain behaviors, sensory neuron excitability, and sympathetic sprouting in rat models of neuropathic pain
In this study, we injected small inhibitory (si) RNA directed against the NaV1.6 sodium channel isoform into the DRG before SNL. This isoform can mediate high-frequency repetitive firing, like that seen in spontaneously active neurons. Local knockdown of NaV1.6 markedly reduced mechanical pain behaviors induced by SNL, reduced sympathetic sprouting into the ligated sensory ganglion, and blocked abnormal spontaneous activity and other measures of hyperexcitability in myelinated neurons in the ligated sensory ganglion. Immunohistochemical experiments showed that sympathetic sprouting preferentially targeted NaV1.6-positive n...
Source: Neuroscience - March 6, 2015 Category: Neuroscience Source Type: research
CaV1.2 and CaV1.3 L-type calcium channels regulate the resting membrane potential but not the expression of calcium transporters in differentiated PC12 cells.
In conclusion, Ca2+ influx through CaV1.2 or to CaV1.3 channel subtypes contributes to maintenance of the resting membrane potentials of NGF-differentiated PC12 cells but is not required for regulation of expression of genes for calcium-transporting proteins.
PMID: 25675390 [PubMed - as supplied by publisher]
Source: General Physiology and Biophysics - February 12, 2015 Category: Physiology Authors: Lichvárová L, Lacinová Ľ Tags: Gen Physiol Biophys Source Type: research
The deubiquitinating enzyme UBPy/USP8 interacts with TrkA and inhibits neuronal differentiation in PC12 cells.
In this study we demonstrated that in PC12 cells the TrkA receptor interacts with the deubiquitinating enzyme USP8/UBPy in a NGF-dependent manner, and that it is deubiquitinated in vivo and in vitro by USP8. USP8 overexpression blocked NGF-induced neurites outgrowth while the overexpression of the catalytically inactive mutant USP8/UBPy(C748A) caused a marked increase of cell differentiation. Localization and biochemical experiments have point out that USP8 and TrkA partially co-localize in endosomes after NGF stimulation. Finally we have studied the role played by USP8 on TrkA turnover; using specific siRNA for USP8 we fo...
Source: Experimental Cell Research - February 4, 2015 Category: Cytology Authors: Ceriani M, Amigoni L, D'Aloia A, Berruti G, Martegani E Tags: Exp Cell Res Source Type: research
