• cardiac fibrosis
• cardiac remodeling
• circNAB1
• circular RNA

• Atrial Fibrillation/genetics
• Atrial Fibrillation/metabolism
• Atrial Fibrillation/pathology
• Animals
• RNA, Circular/genetics
• RNA, Circular/metabolism
• Mice
• Humans
• Fibrosis/genetics
• Fibrosis/metabolism
• Inflammation/genetics
• Inflammation/metabolism
• Mice, Transgenic
• Male
• Heart Atria/metabolism
• Heart Atria/pathology
• Disease Models, Animal

• PJT-153105 CIHR
• PJT-155962 CIHR
• PJT-153105 CIHR
• PJT-155962 CIHR
• Canadian Institutes of Health Research

• Humans
• Charcot-Marie-Tooth Disease/genetics
• Charcot-Marie-Tooth Disease/physiopathology
• Charcot-Marie-Tooth Disease/pathology
• Male
• Female
• Brazil
• Retrospective Studies
• Phenotype
• Early Growth Response Protein 2/genetics
• Adult
• Adolescent
• Young Adult
• Mutation/genetics
• Child
• Neural Conduction
• Middle Aged
• Age of Onset

• ALS
• FTD
• Mouse Model
• Pathology
• Post Translational Modifications
• SUMOylation
• Stress
• TDP-43

• Sumoylation/physiology
• Humans
• DNA-Binding Proteins/metabolism
• DNA-Binding Proteins/genetics
• Animals
• Neurons/metabolism
• Mice
• Amyotrophic Lateral Sclerosis/metabolism
• Male
• Frontotemporal Dementia/metabolism
• Female
• Aging/metabolism
• Stress, Physiological/physiology
• TDP-43 Proteinopathies/metabolism

• PJT-195691 CIHR
• ALS Society of Canada
• Natural Sciences and Engineering Research Council of Canada

• R35 GM131745 NIGMS NIH HHS
• UM1 HG011586 NHGRI NIH HHS

• Charcot-Marie-Tooth disease
• EGR2
• demyelination

• Adult
• Humans
• Female
• Child
• Male
• Age Distribution
• Charcot-Marie-Tooth Disease/genetics
• Mutation
• Genotype
• Phenotype
• Hereditary Sensory and Motor Neuropathy
• Early Growth Response Protein 2/genetics

• Venezuelan equine encephalitis virus
• alphavirus
• early growth response protein 1
• herpesvirus
• inflammation
• transcription
• virus

• Defense Threat Reduction Agency (DTRA)

• Autophagy
• BNIP3
• Mitophagy
• Nix
• Proliferation
• Regulated cell death

Block of proliferation 1 (Bop1) is a nucleolar protein known to be necessary for the assembly of the 60S subunit of ribosomes. Here, we show a specific bop1 expression in the developing anterior tissue of the South African clawed frog Xenopus laevis. Morpholino oligonucleotide-mediated knockdown approaches demonstrated that Bop1 is required for proper development of the cranial cartilage, brain, and the eyes. Furthermore, we show that bop1 knockdown leads to impaired retinal lamination with disorganized cell layers. Expression of neural crest-, brain-, and eye-specific marker genes was disturbed. Apoptotic and proliferative processes, which are known to be affected during ribosomal biogenesis defects, are not hindered upon bop1 knockdown. Because early Xenopus embryos contain a large store of maternal ribosomes, we considered if Bop1 might have a role independent of de novo ribosomal biogenesis. At early embryonic stages, pax6 expression was strongly reduced in bop1 morphants and synergy experiments indicate a common signaling pathway of the two molecules, Bop1 and Pax6. Our studies imply a novel function of Bop1 independent of ribosomal biogenesis.

• Brain development
• Cardiac development
• Eye development
• Neural crest development
• Xenopus laevis

• Animals
• Chickens
• Embryonic Development
• Glycine/analogs & derivatives
• Herbicides/toxicity
• Water Pollutants, Chemical/toxicity
• Xenopus laevis
• Glyphosate

Advances in single-cell RNA sequencing technologies and bioinformatics methods allow for both the identification of cell types in a complex tissue and the large-scale gene expression profiling of various cell types in a mixture. In this report, we analyzed a single-cell RNA sequencing (scRNA-seq) dataset for the intact adult mouse sciatic nerve and examined cell-type specific transcription factor expression and activity during peripheral nerve homeostasis. In total, we identified 238 transcription factors expressed in nine different cell types of intact mouse sciatic nerve. Vascular smooth muscle cells have the lowest number of transcription factors expressed with 17 transcription factors identified. Myelinating Schwann cells (mSCs) have the highest number of transcription factors expressed, with 61 transcription factors identified. We created a cell-type specific expression map for the identified 238 transcription factors. Our results not only provide valuable information about the expression pattern of transcription factors in different cell types of adult peripheral nerves but also facilitate future studies to understand the function of key transcription factors in the peripheral nerve homeostasis and disease.

• SCENIC
• expression
• peripheral nerves
• scRNA-seq
• transcription factors

• HPO
• SV mutagenesis
• family-based genomics
• new mutation
• quantitative clinical phenotyping
• rare variants

• Computational Biology/trends
• Databases, Genetic/trends
• Genetic Diseases, Inborn/diagnosis
• Genetic Diseases, Inborn/genetics
• Genetics, Medical/trends
• Genomics
• Humans
• Phenotype

• UM1 HG006542 NHGRI NIH HHS
• R35 NS105078 NINDS NIH HHS
• R01 GM106373 NIGMS NIH HHS
• U01 HG011758 NHGRI NIH HHS

Background: The etiology of cerebral small vessel disease (SVD) remains elusive, though evidence is accumulating that inflammation contributes to its pathophysiology. We recently showed retrospectively that pro-inflammatory monocytes are associated with the long-term progression of white matter hyperintensities (WMHs). In this prospective high-frequency imaging study, we hypothesize that the incidence of SVD progression coincides with a pro-inflammatory monocyte phenotype.

Methods: Individuals with SVD underwent monthly magnetic resonance imaging (MRI) for 10 consecutive months to detect SVD progression, defined as acute diffusion-weighted imaging-positive (DWI+) lesions, incident microbleeds, incident lacunes, and WMH progression. Circulating inflammatory markers were measured, cytokine production capacity of monocytes was assessed after ex vivo stimulation, and RNA sequencing was performed on isolated monocytes in a subset of participants.

Results: 13 out of 35 individuals developed SVD progression (70 ± 6 years, 54% men) based on incident lesions (n = 7) and/or upper quartile WMH progression (n = 9). Circulating E-selectin concentration (p < 0.05) and the cytokine production capacity of interleukin (IL)-1β and IL-6 (p < 0.01) were higher in individuals with SVD progression. Moreover, RNA sequencing revealed a pro-inflammatory monocyte signature including genes involved in myelination, blood–brain barrier, and endothelial–leukocyte interaction.

Conclusions: Circulating monocytes of individuals with progressive SVD have an inflammatory phenotype, characterized by an increased cytokine production capacity and a pro-inflammatory transcriptional signature.

• cerebral small vessel disease
• inflammation
• innate immunity
• magnetic resonance imaging
• monocyte

Epithelioid hemangioendothelioma (EHE) is a vascular sarcoma that metastasizes early in its clinical course and lacks an effective medical therapy. The TAZ-CAMTA1 and YAP-TFE3 fusion proteins are chimeric transcription factors and initiating oncogenic drivers of EHE. A combined proteomic/genetic screen in human cell lines identified YEATS2 and ZZZ3, components of the Ada2a-containing histone acetyltransferase (ATAC) complex, as key interactors of both fusion proteins despite the dissimilarity of the C terminal fusion partners CAMTA1 and TFE3. Integrative next-generation sequencing approaches in human and murine cell lines showed that the fusion proteins drive a unique transcriptome by simultaneously hyperactivating a TEAD-based transcriptional program and modulating the chromatin environment via interaction with the ATAC complex. Interaction of the ATAC complex with both fusion proteins indicates that it is a key oncogenic driver and unifying enzymatic therapeutic target for this sarcoma. This study presents an approach to mechanistically dissect how chimeric transcription factors drive the formation of human cancers.

The proliferation of human cells is tightly regulated to ensure that enough cells are made to build and repair organs and tissues, while at the same time stopping cells from dividing uncontrollably and damaging the body. To get the right balance, cells rely on physical and chemical cues from their environment that trigger the biochemical signals that regulate two proteins called TAZ and YAP. These proteins control gene activity by regulating the rate at which genes are copied to produce proteins. If this process becomes dysregulated, cells can grow uncontrollably, causing cancer.

In cancer cells, it is common to find TAZ and YAP fused to other proteins. In epithelioid hemangioendothelioma, a rare cancer that grows in the blood vessels, cancerous growth can be driven by a version of TAZ fused to the protein CAMTA1, or a version of YAP fused to the protein TFE3. While the role of TAZ and YAP in promoting gene activity is known, it is unclear how CAMTA1 and TFE3 contribute to cell growth becoming dysregulated.

Merritt, Garcia et al. studied sarcoma cell lines to show that these two fusion proteins, TAZ-CAMTA1 and YAP-TFE3, change the pattern of gene activity seen in the cells compared to TAZ or YAP alone. An analysis of molecules that interact with the two fusion proteins identified a complex called ATAC as the cause of these changes. This complex adds chemical markers to DNA-packaging proteins, which control which genes are available for activation. The fusion proteins combine the ability of TAZ and YAP to control gene activity and the ability of CAMTA1 and TFE3 to make DNA more accessible, allowing the fusion proteins to drive uncontrolled cancerous growth.

Similar TAZ and YAP fusion proteins have been found in other cancers, which can activate genes and potentially alter DNA packaging. Targeting drug development efforts at the proteins that complex with TAZ and YAP fusion proteins may lead to new therapies.

• ATAC complex
• cancer biology
• chimeric transcription factors
• chromosomes
• epigenetics
• fusion proteins
• gene expression
• hippo pathway
• human
• mouse
• sarcomas

• charcot–marie–tooth disease (cmt)
• dejerine–sottas syndrome (dss)
• demyelinating diseases
• insertion mutation
• pmp22
• whole-exome sequencing (wes)

• Adult
• Hereditary Sensory and Motor Neuropathy/genetics
• Humans
• Male
• Mutagenesis, Insertional/genetics
• Myelin Proteins/genetics

Drug addiction develops due to brain-wide plasticity within neuronal ensembles, mediated by dynamic gene expression. Though the most common approach to identify such ensembles relies on immediate early gene expression, little is known of how the activity of these genes is linked to modified behavior observed following repeated drug exposure. To address this gap, we present a broad-to-specific approach, beginning with a comprehensive investigation of brain-wide cocaine-driven gene expression, through the description of dynamic spatial patterns of gene induction in subregions of the striatum, and finally address functionality of region-specific gene induction in the development of cocaine preference. Our findings reveal differential cell-type specific dynamic transcriptional recruitment patterns within two subdomains of the dorsal striatum following repeated cocaine exposure. Furthermore, we demonstrate that induction of the IEG Egr2 in the ventrolateral striatum, as well as the cells within which it is expressed, are required for the development of cocaine seeking.

The human brain is ever changing, constantly rewiring itself in response to new experiences, knowledge or information from the environment. Addictive drugs such as cocaine can hijack the genetic mechanisms responsible for this plasticity, creating dangerous, obsessive drug-seeking and consuming behaviors.

Cocaine-induced plasticity is difficult to apprehend, however, as brain regions or even cell populations can react differently to the compound. For instance, sub-regions in the striatum – the brain area that responds to rewards and helps to plan movement – show distinct responses during progressive exposure to cocaine. And while researchers know that the drug immediately changes how neurons switch certain genes on and off, it is still unclear how these genetic modifications later affect behavior.

Mukherjee, Gonzales et al. explored these questions at different scales, first focusing on how progressive cocaine exposure changed the way various gene programs were activated across the entire brain. This revealed that programs in the striatum were the most affected by the drug.

Examining this region more closely showed that cocaine switches on genes in specific ‘spiny projection’ neuron populations, depending on where these cells are located and the drug history of the mouse. Finally, Mukherjee, Gonzales et al. used genetically modified mice to piece together cocaine exposure, genetic changes and modifications in behavior. These experiments revealed that the drive to seek cocaine depended on activation of the Egr2 gene in populations of spiny projection neurons in a specific sub-region of the striatum. The gene, which codes for a protein that regulates how genes are switched on and off, was itself strongly activated by cocaine intake.

Cocaine addiction can have devastating consequences for individuals. Grasping how this drug alters the brain could pave the way for new treatments, while also providing information on the basic mechanisms underlying brain plasticity.

• IEG
• cocaine
• ensembles
• mouse
• neuroscience
• reward
• striatum
• transcriptomics

• AIDP
• Acute inflammatory demyelinating polyneuropathy
• CIDP
• CMT
• CMT1A
• CMT1B
• CMT1C
• CMT1D
• CMT1E
• CMT1F
• CMT1X
• Charcot-Marie-Tooth disease
• Chronic inflammatory demyelinating polyneuropathy
• Cx32
• Demyelination
• EGR2
• GBS
• GJB1
• Guillain-Barré syndrome
• HNPP
• Hereditary
• LITAF/SIMPLE
• MPZ
• Myelin
• NEFL
• Neuropathy with liability to pressure palsies
• PMP22
• Peripheral neuropathy
• Secondary axon degeneration

• Animals
• Arthrogryposis/metabolism
• Arthrogryposis/pathology
• Axons/metabolism
• Axons/pathology
• Charcot-Marie-Tooth Disease/metabolism
• Charcot-Marie-Tooth Disease/pathology
• Demyelinating Diseases/metabolism
• Demyelinating Diseases/pathology
• Hereditary Sensory and Motor Neuropathy/metabolism
• Hereditary Sensory and Motor Neuropathy/pathology
• Humans
• Nerve Degeneration/metabolism
• Nerve Degeneration/pathology
• Polyneuropathies/metabolism
• Polyneuropathies/pathology
• Schwann Cells/metabolism
• Schwann Cells/pathology

• R01 NS091260 NINDS NIH HHS

YAP and TAZ are effectors of the Hippo pathway that controls multicellular development by integrating chemical and mechanical signals. Peripheral nervous system development depends on the Hippo pathway. We previously showed that loss of YAP and TAZ impairs the development of peripheral nerve as well as Schwann cell myelination. The role of the Hippo pathway in peripheral nerve regeneration has just started to be explored. After injury, Schwann cells adopt new identities to promote regeneration by converting to a repair‐promoting phenotype. While the reprogramming of Schwann cells to repair cells has been well characterized, the maintenance of such repair phenotype cannot be sustained for a very long period, which limits nerve repair in human. First, we show that short or long‐term myelin maintenance is not affected by defect in YAP and TAZ expression. Using crush nerve injury and conditional mutagenesis in mice, we also show that YAP and TAZ are regulators of repair Schwann cell proliferation and differentiation. We found that YAP and TAZ are required in repair Schwann cells for their redifferentiation into myelinating Schwann cell following crush injury. In this present study, we describe how the Hippo pathway and YAP and TAZ regulate remyelination over time during peripheral nerve regeneration.

• Schwann cell
• Taz
• Yap
• myelin
• nerve injury

• EGR2
• NAB
• autosomal recessive
• demyelinating neuropathy
• scoliosis

• Animals
• Charcot-Marie-Tooth Disease/genetics
• Early Growth Response Protein 2/genetics
• Homozygote
• Humans
• Mutation
• Transcription Factors/genetics

• P50 HD105353 NICHD NIH HHS
• PI19/00142 Instituto de Salud Carlos III
• PI16/00403 Instituto de Salud Carlos III
• PROMETEO/2018/135 Generalitat Valenciana

• Amyloid neuropathy
• Axonal transport
• Axons
• Charcot-Marie-Tooth disease
• Myelin
• Schwann cells

• EBV-induced gene 2 (EBI2)
• EGR1
• EGR2
• EGR3
• Epstein–Barr virus (EBV)
• early growth response
• immediate early gene
• myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS)

• Early Growth Response Protein 1/genetics
• Early Growth Response Protein 1/metabolism
• Early Growth Response Protein 2/genetics
• Early Growth Response Protein 2/metabolism
• Early Growth Response Protein 3/genetics
• Early Growth Response Protein 3/metabolism
• Epstein-Barr Virus Infections/genetics
• Epstein-Barr Virus Infections/metabolism
• Fatigue Syndrome, Chronic/genetics
• Fatigue Syndrome, Chronic/metabolism
• Humans
• Up-Regulation

• Cytokines
• Egr2/3
• STAT
• T cells

• Animals
• CD4-Positive T-Lymphocytes/drug effects
• CD4-Positive T-Lymphocytes/immunology
• CD4-Positive T-Lymphocytes/metabolism
• Cell Differentiation/drug effects
• Cell Proliferation/drug effects
• Cells, Cultured
• Early Growth Response Protein 2/genetics
• Early Growth Response Protein 2/metabolism
• Early Growth Response Protein 3/genetics
• Early Growth Response Protein 3/metabolism
• Female
• Gene Expression Regulation
• Interferon-gamma/pharmacology
• Interleukin-6/pharmacology
• Lymphocyte Activation/drug effects
• Male
• Mice, Knockout
• Promoter Regions, Genetic
• STAT1 Transcription Factor/metabolism
• STAT3 Transcription Factor/metabolism
• Signal Transduction

Cell dedifferentiation is the process by which cells grow reversely from a partially or terminally differentiated stage to a less differentiated stage within their own lineage. This extraordinary phenomenon, observed in many physiological processes, inspires the possibility of developing new therapeutic approaches to regenerate damaged tissue and organs. Meanwhile, studies also indicate that dedifferentiation can cause pathological changes. In this review, we compile the literature describing recent advances in research on dedifferentiation, with an emphasis on tissue-specific findings, cellular mechanisms, and potential therapeutic applications from an engineering perspective. A critical understanding of such knowledge may provide fresh insights for designing new therapeutic strategies for regenerative medicine based on the principle of cell dedifferentiation.

• Regenerative medicine
• Tissue engineering

Lethal congenital contracture syndrome type 7 (LCCS7) and congenital hypomyelinating neuropathy type 3 (CHN3) are rare autosomal recessive diseases, characterized by severe neonatal hypotonia, polyhydramnios, arthrogryposis, facial diplegia, and severe motor paralysis, leading to death in early infancy. They are related to mutations in the CNTNAP1 (contactin associated protein 1) gene, playing an important role in myelination. Recent studies have shown that both diseases could present with a wide phenotypic spectrum, with promising survival up to early childhood. We report on a 7-year-old boy from a nonconsanguineous Lebanese family presenting with neonatal hypotonia, respiratory distress, and arthrogryposis. Molecular analysis revealed the presence of a pathogenic variant in the CNTNAP1 gene leading to a premature stop codon: NM_003632.2:c.3361C>T p.(Arg1121^∗). A review of the literature is discussed.

• Arsenic
• Bangladesh
• HEALS
• PBMC
• RNA-Seq

• Adult
• Arsenic/toxicity
• Arsenic/urine
• Arsenic Poisoning
• Bangladesh
• Chromosome Aberrations
• DNA Methylation/drug effects
• Drinking Water/analysis
• Environmental Exposure/analysis
• Female
• Genome-Wide Association Study
• Humans
• Leukocytes, Mononuclear/drug effects
• RNA-Seq
• Transcriptome
• Water Pollutants, Chemical/toxicity

• P30 CA016087 NCI NIH HHS
• R24 ES028532 NIEHS NIH HHS
• R01 ES029359 NIEHS NIH HHS
• R01 ES026138 NIEHS NIH HHS
• R01 ES022935 NIEHS NIH HHS
• P30 ES000260 NIEHS NIH HHS
• P42 ES010349 NIEHS NIH HHS
• P30 ES027792 NIEHS NIH HHS

• cancer
• latent variables
• machine learning
• metaVIPER
• nerve sheath tumor
• neurofibromatosis type 1
• random forest
• supervised learning
• transfer learning
• tumor deconvolution

• Databases, Genetic
• Humans
• Machine Learning
• Models, Statistical
• Nerve Sheath Neoplasms/genetics
• Neurofibroma/genetics
• Neurofibroma, Plexiform/genetics
• Neurofibroma, Plexiform/metabolism
• Neurofibromatosis 1/genetics
• Neurofibromatosis 1/metabolism
• Peripheral Nerves/metabolism
• Prognosis
• Sequence Analysis, DNA/methods
• Signal Transduction/genetics
• Tumor Microenvironment/genetics
• Tumor Microenvironment/physiology

EGR2 (early growth response 2) is a crucial transcription factor for the myelination of the peripheral nervous system. Mutations in EGR2 are reported to cause a heterogenous spectrum of peripheral neuropathy with wide variation in both severity and age of onset, including demyelinating and axonal forms of Charcot-Marie Tooth (CMT) neuropathy, Dejerine-Sottas neuropathy (DSN/CMT3), and congenital hypomyelinating neuropathy (CHN/CMT4E). Here we report a sporadic de novo EGR2 variant, c.1232A > G (NM_000399.5), causing a missense p.Asp411Gly substitution and discovered through whole-exome sequencing (WES) of the proband. The resultant phenotype is severe demyelinating DSN with onset at two years of age, confirmed through nerve biopsy and electrophysiological examination. In silico analyses showed that the Asp411 residue is evolutionarily conserved, and the p.Asp411Gly variant was predicted to be deleterious by multiple in silico analyses. A luciferase-based reporter assay confirmed the reduced ability of p.Asp411Gly EGR2 to activate a PMP22 (peripheral myelin protein 22) enhancer element compared to wild-type EGR2. This study adds further support to the heterogeneity of EGR2-related peripheral neuropathies and provides strong functional evidence for the pathogenicity of the p.Asp411Gly EGR2 variant.

Schwann cells (SCs) de-differentiate in Wallerian degeneration (WD) following nerve injury and, by doing so, can actively promote nerve repair and functional recovery. An innate-immune response is an important component of the complex of events referred to as WD. Damaged peripheral nervous system SCs produce IL-1β and other inflammatory cytokines. We hypothesized that, in addition to a role in immune responses, IL-1β participates in de-differentiation and proliferation of SCs. qPCR and ELISA demonstrated that expression of IL-1β mRNAs and protein increased after nerve injury. Immunofluorescent staining and western blotting demonstrated that expression of the p75 neurotrophin receptor (p75NTR) was significantly increased and levels of myelin protein zero (MPZ) were significantly decreased after IL-1β exposure compared with control groups in vitro WD. Additionally, qPCR demonstrated that IL-1β elevated expression of the de-differentiation gene p75NTR and decreased expression of myelination locus MPZ and promoted SCs de-differentiation. Furthermore, immunofluorescent staining, western blotting, qPCR and ELISA revealed that IL-1β promoted c-JUN expression and activation of AP-1 activity of SCs in an in vitro WD model. Finally, Immunofluorescent staining illustrated that IL-1β elevated expression of Ki67 in SCs nuclei, the apoptosis of SCs were detected by TUNEL. SCs of WD produce IL-1β which promotes SCs de-differentiation and proliferation.

• IL-1β
• MPZ
• Schwann cells
• Wallerian degeneration
• c-JUN/AP-1
• de-differentiation
• p75NTR

• ES reanalysis
• absence of heterozygosity
• arthrogryposis
• identity-by-descent
• joint contracture
• multilocus pathogenic variation
• neuromuscular disease
• trio-exome

• Adolescent
• Adult
• Arthrogryposis/genetics
• Arthrogryposis/pathology
• Child
• Child, Preschool
• Cohort Studies
• Connectin/genetics
• DNA Copy Number Variations
• Female
• Genetic Markers
• Genomics/methods
• Gestational Age
• Humans
• Infant
• Infant, Newborn
• Male
• Mosaicism
• Multifactorial Inheritance/genetics
• Mutation
• Pedigree
• Ryanodine Receptor Calcium Release Channel/genetics
• Vesicular Transport Proteins/genetics
• Exome Sequencing
• Young Adult

• K08 HG008986 NHGRI NIH HHS
• R35 NS105078 NINDS NIH HHS
• T32 NS043124 NINDS NIH HHS
• UM1 HG006542 NHGRI NIH HHS

• CNTNAP1
• Congenital hypomyelinating neuropathy
• Congenital hypotonia
• Cranial nerve palsies
• Seizures

• Charcot-Marie-tooth disease
• EGR2-neuropathies
• axonal phenotype
• next-generation sequencing

• Amino Acyl-tRNA Synthetases/genetics
• Amino Acyl-tRNA Synthetases/metabolism
• Cell Division/genetics
• Cell Division/physiology
• Charcot-Marie-Tooth Disease/genetics
• Charcot-Marie-Tooth Disease/metabolism
• Humans
• Mutation
• Myelin Sheath/genetics
• Myelin Sheath/metabolism
• Transcription Factors/genetics
• Transcription Factors/metabolism

• NGFI-A-binding protein
• early growth response
• nuclear localization signal

• comfort care
• fetal akinesia deformation sequence
• ultrasound

• Neuregulin1
• RNA deep sequencing
• Schwann cells
• de-differentiation
• demyelination
• genetic
• peripheral nerve injury
• transcription

• Charcot–Marie–Tooth disease
• Dejerine–Sottas disease
• pediatric
• peripheral neuropathy
• ultrasound

• Schwann cells
• chromatin
• glia
• injury
• myelin
• neurofibromatosis
• neuropathy

• Charcot-Marie-Tooth disease
• Drosophila
• Mitochondria
• Neuromuscular junction

• Mouse
• Myelination
• Peripheral nervous system
• Repair
• Schwann cell
• Sox2

• Animals
• Biomarkers/metabolism
• Cadherins/metabolism
• Cell Proliferation
• Early Growth Response Protein 2/metabolism
• Green Fluorescent Proteins/metabolism
• Macrophages/metabolism
• Mice, Transgenic
• Motor Activity
• Myelin Sheath/metabolism
• Neural Conduction
• Peripheral Nerve Injuries/metabolism
• Peripheral Nerve Injuries/pathology
• Peripheral Nerves/metabolism
• Peripheral Nerves/pathology
• Peripheral Nerves/ultrastructure
• Proto-Oncogene Proteins c-jun/metabolism
• Rats
• Recovery of Function
• SOXB1 Transcription Factors/metabolism
• Schwann Cells/metabolism
• Schwann Cells/pathology
• Transgenes
• beta Catenin/metabolism

• 11244 Cancer Research UK
• 17135 Cancer Research UK
• MR/N009169/1 Medical Research Council
• 088228/Z/09/Z Wellcome Trust
• Wellcome Trust
• Fondazione Telethon
• Ministero della Salute

• Egr2
• RNA epigenetics
• YY1
• antisense RNA
• myelination
• nerve injury response
• neuregulin
• transcription

• Animals
• Early Growth Response Protein 2/genetics
• Early Growth Response Protein 2/metabolism
• Female
• Male
• Mice
• Mice, Inbred C57BL
• Myelin Sheath/metabolism
• RNA, Long Noncoding/genetics
• RNA, Long Noncoding/metabolism
• Transcription Factors
• Transfection

• R01 NS070975 NINDS NIH HHS

• anergy
• autoimmune diseases
• early growth response
• immune system
• regulator

• Charcot-Marie-Tooth disease
• Connexin 32
• Deletion
• GJB1
• P2 promoter
• Schwann cell dysfunction
• X-linked