12,998 results match your criteria migration mutations

Parallel Rap1>RalGEF>Ral and Ras signals sculpt the C. elegans nervous system.

Dev Biol 2021 May 12. Epub 2021 May 12.

Department of Translational Medical Science, College of Medicine, USA; Institute of Biosciences and Technology, Texas A&M Health Science Center, Texas A&M University, Houston, TX, USA. Electronic address:

Ras is the most commonly mutated oncogene in humans and uses three oncogenic effectors: Raf, PI3K, and RalGEF activation of Ral. Understanding the importance of RalGEF > Ral signaling in cancer is hampered by the paucity of knowledge about their function in animal development, particularly in cell movements. We found that mutations that disrupt function of RalGEF or Ral enhance migration phenotypes of mutations in genes with established roles in cell migration. Read More

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Biological nanomotors, driving forces of life.

Anne Houdusse

C R Biol 2021 Apr 21;343(4):53-78. Epub 2021 Apr 21.

Structural Motility, Institut Curie, Université Paris Sciences et Lettres, Sorbonne Université, CNRS UMR144, 75248 Paris, France.

Life is driven by awe-inspiring coordinated movements observed in cells and tissues. In each cell, nm-size molecular motor proteins contribute to these movements as they power numerous mechanical processes with precision and complex orchestration. For the multiple functions that an eukaryotic cell accomplish, motility is essential both at molecular and cellular scales. Read More

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Novel Dent Disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function.

Hum Mol Genet 2021 May 13. Epub 2021 May 13.

Renal Physiopathology Group, Vall d'Hebron Research Institute (VHIR)-CIBBIM Nanomedicine, Barcelona, Spain.

Dent disease 1 (DD1) is a rare X-linked renal proximal tubulopathy characterized by low molecular weight proteinuria and variable degree of hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressing to chronic kidney disease. Although mutations in the electrogenic Cl-/H+ antiporter ClC-5, which impair endocytic uptake in proximal tubule cells, cause the disease, there is poor genotype-phenotype correlation and their contribution to proximal tubule dysfunction remains unclear. To further discover the mechanisms linking ClC-5 loss-of-function to proximal tubule dysfunction, we have generated novel DD1 cellular models depleted of ClC-5 and carrying ClC-5 mutants p. Read More

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The G199X and V157fs mutations in the gene promote malignancy in serous ovarian cancer: an analysis using whole-exome sequencing.

Ann Transl Med 2021 Apr;9(8):710

Department of Gynecology and Obstetrics, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, China.

Background: The carcinogenic mechanisms underlying serous ovarian cancer are not fully understood.

Methods: Whole-exome sequencing and targeted sequencing were performed in ovarian cancer samples to identify novel molecular markers involved in the process of cell malignancy in ovarian cancer. experiments, the oncogenic roles such as cell proliferation, migration and invasion of G199X and V157fs mutations were investigated deeply. Read More

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CTNNB1 S37C mutation causing cells proliferation and migration coupled with molecular mechanisms in lung adenocarcinoma.

Ann Transl Med 2021 Apr;9(8):681

Department of Thoracic Surgery, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China.

Background: This study aimed to investigate the potential cytological effects and molecular mechanisms of β-catenin (CTNNB1) S37C mutation in lung adenocarcinoma (LUAD).

Methods: CTNNB1 with S37C mutation were transfected into LUAD cell lines. The expression of β-catenin were determined using Western blot. Read More

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Distinct roles of tumor associated mutations in collective cell migration.

Sci Rep 2021 May 13;11(1):10291. Epub 2021 May 13.

Marlene and Stewart Greenebaum NCI Comprehensive Cancer Center, University of Maryland School of Medicine, Baltimore, MD, 21201, USA.

Recent evidence suggests that groups of cells are more likely to form clinically dangerous metastatic tumors, emphasizing the importance of understanding mechanisms underlying collective behavior. The emergent collective behavior of migrating cell sheets in vitro has been shown to be disrupted in tumorigenic cells but the connection between this behavior and in vivo tumorigenicity remains unclear. We use particle image velocimetry to measure a multidimensional migration phenotype for genetically defined human breast epithelial cell lines that range in their in vivo behavior from non-tumorigenic to aggressively metastatic. Read More

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Effect of the transcription factor YY1 on the development of pancreatic endocrine and exocrine tumors: a narrative review.

Cell Biosci 2021 May 13;11(1):86. Epub 2021 May 13.

Pancreas Center, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, Jiangsu, People's Republic of China.

Pancreatic tumors are classified into endocrine and exocrine types, and the clinical manifestations in patients are nonspecific. Most patients, especially those with pancreatic ductal adenocarcinoma (PDAC), have lost the opportunity to receive for the best treatment at the time of diagnosis. Although chemotherapy and radiotherapy have shown good therapeutic results in other tumors, their therapeutic effects on pancreatic tumors are minimal. Read More

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Limits and Convergence properties of the Sequentially Markovian Coalescent.

Mol Ecol Resour 2021 May 12. Epub 2021 May 12.

Department of Life Science Systems, Technical University of Munich.

Several methods based on the SequentiallyMarkovian Coalescent (SMC) make use of full genome sequence data from samples to infer population demographic history including past changes in population size, admixture, migration events and population structure. More recently, the original theoretical framework has been extended to allow the simultaneous estimation of population size changes along with other life-history traits such as selfing or seed banking. The latter developments enhance the applicability of SMC methods to non-model species. Read More

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Reduced WNT5A signaling in melanoma cells favors an amoeboid mode of invasion.

Mol Oncol 2021 May 9. Epub 2021 May 9.

Experimental Pathology, Department of Translational Medicine, Lund University, Skåne University Hospital, Malmö, Sweden.

Tumor cells invade and spread via either a mesenchymal or an amoeboid mode of migration. Amoeboid tumor cells have a rounded morphology and pronounced RhoA activity. Here, we investigate how WNT5A signaling, a tumor promotor in melanoma, relates to Rho GTPase activity and amoeboid migration. Read More

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Wnt Signaling Cascades and Their Role in Coronary Artery Health and Disease.

J Cell Signal 2021 ;2(1):52-62

Section of Cardiovascular Medicine, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06510, USA.

The Wnt signaling is classified as two distinct pathways of canonical Wnt/β-catenin signaling, and the non-canonical pathways of planar cell polarity and Wnt/Ca pathways. However, the scientific discoveries in recent years have shown that canonical and non-canonical Wnts pathways are intertwined and have complex interaction with other major signaling pathways such as hedgehog, Hippo and TOR signaling. Wnt signaling plays important roles in cell proliferation, differentiation and migration during embryonic development. Read More

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January 2021

Mitochondrial CHCHD2: Disease-Associated Mutations, Physiological Functions, and Current Animal Models.

Front Aging Neurosci 2021 22;13:660843. Epub 2021 Apr 22.

USF Health Byrd Alzheimer's Center and Research Institute, Tampa, FL, United States.

Rare mutations in the mitochondrial protein coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) are associated with Parkinson's disease (PD) and other Lewy body disorders. CHCHD2 is a bi-organellar mediator of oxidative phosphorylation, playing crucial roles in regulating electron flow in the mitochondrial electron transport chain and acting as a nuclear transcription factor for a cytochrome c oxidase subunit (COX4I2) and itself in response to hypoxic stress. CHCHD2 also regulates cell migration and differentiation, mitochondrial cristae structure, and apoptosis. Read More

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Epidemiology and evolution of Middle East respiratory syndrome coronavirus, 2012-2020.

Infect Dis Poverty 2021 May 8;10(1):66. Epub 2021 May 8.

State Key Laboratory of Pathogen and Biosecurity, Beijing Institute of Microbiology and Epidemiology, 20 Dong-Da Street, Fengtai District, Beijing, 100071, People's Republic of China.

Background: The ongoing transmission of the Middle East respiratory syndrome coronavirus (MERS-CoV) in the Middle East and its expansion to other regions are raising concerns of a potential pandemic. An in-depth analysis about both population and molecular epidemiology of this pathogen is needed.

Methods: MERS cases reported globally as of June 2020 were collected mainly from World Health Organization official reports, supplemented by other reliable sources. Read More

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A somatic mutation in PIK3CD unravels a novel candidate gene for lymphatic malformation.

Orphanet J Rare Dis 2021 May 8;16(1):208. Epub 2021 May 8.

Department of Otolaryngology-Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.

Background: Lymphatic malformations (LMs) are benign congenital malformations that stem from the abnormal development of the lymphatic vessels during early embryogenesis. Somatic PIK3CA gene mutations are conventional cause leading to LMs. Both macrocystic and microcystic LMs arise due to lymphatic endothelial cell-autonomous defects, depending on the time in development at which PIK3CA gene mutation occurs. Read More

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Chromatin remodelling complexes in cerebral cortex development and neurodevelopmental disorders.

Neurochem Int 2021 May 5:105055. Epub 2021 May 5.

Brain Development and Disease Mechanisms, Institute for Stem, Cell Science and Regenerative Medicine (inStem), Bangalore, India; Medicine, Bangalore Life Science Cluster, GKVK Post, Bellary, Road, Bangalore, 560065 INDIA. Electronic address:

The diverse number of neurons in the cerebral cortex are generated during development by neural stem cells lining the ventricle, and they continue maturing postnatally. Dynamic chromatin regulation in these neural stem cells is a fundamental determinant of the emerging property of the functional neural network, and the chromatin remodellers are critical determinants of this process. Chromatin remodellers participate in several steps of this process from proliferation, differentiation, migration leading to complex network formation which forms the basis of higher-order functions of cognition and behaviour. Read More

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Transcription factor 4 controls positioning of cortical projection neurons through regulation of cell adhesion.

Mol Psychiatry 2021 May 7. Epub 2021 May 7.

Department of Anesthesia, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Institutes of Brain Science, and Zhongshan Hospital, Fudan University, Shanghai, China.

The establishment of neural circuits depends on precise neuronal positioning in the cortex, which occurs via a tightly coordinated process of neuronal differentiation, migration, and terminal localization. Deficits in this process have been implicated in several psychiatric disorders. Here, we show that the transcription factor Tcf4 controls neuronal positioning during brain development. Read More

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Dysfunction of Trio GEF1 involves in excitatory/inhibitory imbalance and autism-like behaviors through regulation of interneuron migration.

Mol Psychiatry 2021 May 7. Epub 2021 May 7.

Peking University Sixth Hospital, Peking University Institute of Mental Health, NHC Key Laboratory of Mental Health (Peking University), National Clinical Research Center for Mental Disorders (Peking University Sixth Hospital), Beijing, China.

Autism spectrum disorders (ASDs) are a group of highly inheritable neurodevelopmental disorders. Functional mutations in TRIO, especially in the GEF1 domain, are strongly implicated in ASDs, whereas the underlying neurobiological pathogenesis and molecular mechanisms remain to be clarified. Here we characterize the abnormal morphology and behavior of embryonic migratory interneurons (INs) upon Trio deficiency or GEF1 mutation in mice, which are mediated by the Trio GEF1-Rac1 activation and involved in SDF1α/CXCR4 signaling. Read More

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Cancer type-specific alterations in actin genes: Worth a closer look?

Int Rev Cell Mol Biol 2021 30;360:133-184. Epub 2021 Mar 30.

Department of Biomolecular Medicine, Ghent University, Gent, Belgium.

Actins form a strongly conserved family of proteins that are central to the functioning of the actin cytoskeleton partaking in natural processes such as cell division, adhesion, contraction and migration. These processes, however, also occur during the various phases of cancer progression. Yet, surprisingly, alterations in the six human actin genes in cancer studies have received little attention and the focus was mostly on deregulated expression levels of actins and even more so of actin-binding or regulatory proteins. Read More

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Cancer Stem Cell Marker CD44 Plays Multiple Key Roles in Human Cancers: Immune Suppression/Evasion, Drug Resistance, Epithelial-Mesenchymal Transition, and Metastasis.

OMICS 2021 May;25(5):313-332

Division of Computational Biology, Faculty of Health Sciences, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, Cape Town, South Africa.

One of the most frequently utilized cancer stem cell markers in human cancers, including colorectal cancer and breast cancer, is CD44. A glycoprotein, CD44, traverses the cell membrane and binds to many ligands, including hyaluronan, resulting in activation of signaling cascades. There are conflicting data, however, on expression of CD44 in relationship to subtypes of cancers. Read More

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Abelson interactor 1 splice isoform-L plays an anti-oncogenic role in colorectal carcinoma through interactions with WAVE2 and full-length Abelson interactor 1.

World J Gastroenterol 2021 Apr;27(15):1595-1615

Department of Central Laboratory and Institute of Clinical Molecular Biology, Peking University People's Hospital, Beijing 100044, China.

Background: Expression of the full-length isoform of Abelson interactor 1 (ABI1), ABI1-p65, is increased in colorectal carcinoma (CRC) and is thought to be involved in one or more steps leading to tumor progression or metastasis. The ABI1 splice isoform-L (ABI1-SiL) has conserved WAVE2-binding and SH3 domains, lacks the homeo-domain homologous region, and is missing the majority of PxxP- and Pro-rich domains found in full-length ABI1-p65. Thus, ABI1-SiL domain structure suggests that the protein may regulate CRC cell morphology, adhesion, migration, and metastasis interactions with the WAVE2 complex pathway. Read More

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Increased RET activity coupled with a reduction in the gene dosage causes intestinal aganglionosis in mice.

eNeuro 2021 May 6. Epub 2021 May 6.

Division for Neural Differentiation and Regeneration, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan

Mutations of the gene encoding the tyrosine kinase causes Hirschsprung disease (HSCR) and medullary thyroid carcinoma (MTC). Current consensus holds that HSCR and MTC are induced by inactivating and activating RET mutations, respectively. However, it remains unknown whether activating mutations in the gene have adverse effects on ENS development in vivo. Read More

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Galectin-3 N-terminal tail prolines modulate cell activity and glycan-mediated oligomerization/phase separation.

Proc Natl Acad Sci U S A 2021 May;118(19)

Engineering Research Center of Glycoconjugates Ministry of Education, Jilin Provincial Key Laboratory of Chemistry and Biology of Changbai Mountain Natural Drugs, School of Life Sciences, Northeast Normal University, 130024 Changchun, China;

Galectin-3 (Gal-3) has a long, aperiodic, and dynamic proline-rich N-terminal tail (NT). The functional role of the NT with its numerous prolines has remained enigmatic since its discovery. To provide some resolution to this puzzle, we individually mutated all 14 NT prolines over the first 68 residues and assessed their effects on various Gal-3-mediated functions. Read More

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Synergistic Effect of Bazedoxifene and PARP Inhibitor in the Treatment of Ovarian Cancer Regardless of BRCA Mutation.

Anticancer Res 2021 May;41(5):2277-2286

Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD, U.S.A.

Background/aim: Poly (ADP-ribose) polymerase inhibitors (PARPis) are one of the targeted therapies proven to treat breast cancer gene (BRCA)-mutant ovarian cancer. Because most ovarian cancers are BRCA wild-type, it is necessary to extend the usage of PARPis. In the present study, we combined the PARPi, talazoparib, and the IL-6 inhibitor, bazedoxifene, for the treatment of human ovarian cancer cells. Read More

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DOCK8-related Immunodeficiency Syndrome (DIDS): Report of Novel Mutations in Iranian Patients.

J Mol Neurosci 2021 May 4. Epub 2021 May 4.

Division of Medical Genetics, Tabriz Children's Hospital, Tabriz University of Medical Sciences, Tabriz, Iran.

DOCK8 immunodeficiency syndrome (DIDS) is a rare autosomal recessive (AR) disorder characterized by elevated serum IgE levels, eosinophilia, recurrent cutaneous infections, severe eczema, and sinopulmonary and gastrointestinal infections. This syndrome is a multisystem disease that is associated with both immune deficiency and neurological complications. In this study, we describe the clinical characteristics of two Iranian patients with DOCK8 deficiency and propose possible mechanisms for this condition. Read More

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Functional identification of a rare vascular endothelial growth factor a () variant associating with the nonsyndromic cleft lip with/without cleft palate.

Bioengineered 2021 Dec;12(1):1471-1483

Central Laboratory, Peking University School and Hospital of Stomatology, Beijing, China.

Vascular endothelial growth factor A (VEGFA) is a crucial growth factor, which participates in multiple processes of human growth and development, such as angiogenesis and osteogenesis and is also necessary for development of palate. The purpose of this study was to investigate the effect of a rare mutation (NM_001025366.2 773 T > C p. Read More

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December 2021

The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study.

Hemoglobin 2021 May 5:1-6. Epub 2021 May 5.

Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

β-Thalassemia (β-thal) is highly prevalent among the Mediterranean populations. In Lebanon, the carrier rate of the disease is estimated to be around 2.0-3. Read More

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Specific activation of glycolytic enzyme enolase 2 in BRAF V600E-mutated colorectal cancer.

Cancer Sci 2021 May 2. Epub 2021 May 2.

Department of Gastroenterological Surgery, Graduate School of Medicine, Osaka University, Suita, Japan.

The BRAF V600E mutation occurs in approximately 10% of patients with metastatic colorectal cancer (CRC) and constitutes a distinct subtype of the disease with extremely poor prognosis. To address this refractory disease, we investigated the unique metabolic gene profile of BRAF V600E-mutated tumors via in silico analysis using a large-scale clinical database. We found that BRAF V600E-mutated tumors exhibited a specific metabolic gene expression signature, including some genes that are associated with poor prognosis in CRC. Read More

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Etiopathogenesis of adolescent idiopathic scoliosis: Review of the literature and new epigenetic hypothesis on altered neural crest cells migration in early embryogenesis as the key event.

Med Hypotheses 2021 Mar 29;151:110585. Epub 2021 Mar 29.

Arrowhead Pharmaceuticals Inc., Madison WI, USA; University of Pittsburgh, Pittsburgh PA, USA; University of Wisconsin, Madison WI, USA. Electronic address:

Adolescent idiopathic scoliosis (AIS) affects 2-3% of children. Numerous hypotheses on etiologic/causal factors of AIS were investigated, but all failed to identify therapeutic targets and hence failed to offer a cure. Therefore, currently there are only two options to minimize morbidity of the patients suffering AIS: bracing and spinal surgery. Read More

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The metastasis suppressor protein NM23-H1 modulates the PI3K-AKT axis through interaction with the p110α catalytic subunit.

Oncogenesis 2021 Apr 30;10(4):34. Epub 2021 Apr 30.

Department of Otorhinolaryngology-Head and Neck Surgery, Perelman School of Medicine, Tumor Virology Program, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA.

The PI3K pathway is one of the most deregulated pathways in cancer, which is predominantly due to gain of function mutations or altered expression of the PI3KCA gene. This is codified by what is seen for the class I PI3K catalytic subunit p110α, a common feature of many cancers. The metastasis suppressor protein NM23-H1 (NME1), whose ability to suppress the metastasis activities of different tumors has been widely described and was previously reported to alter phosphatidylinositol signaling. Read More

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BAP31: Physiological functions and roles in disease.

Biochimie 2021 Apr 28;186:105-129. Epub 2021 Apr 28.

Department of Molecular Biology and Genetics - DANDRITE, Aarhus University, Gustav Wieds Vej 10, DK-8000 Aarhus C, Denmark. Electronic address:

B-cell receptor-associated protein 31 (BAP31 or BCAP31) is a ubiquitously expressed transmembrane protein found mainly in the endoplasmic reticulum (ER), including in mitochondria-associated membranes (MAMs). It acts as a broad-specificity membrane protein chaperone and quality control factor, which can promote different fates for its clients, including ER retention, ER export, ER-associated degradation (ERAD), or evasion of degradation, and it also acts as a MAM tetherer and regulatory protein. It is involved in several cellular processes - it supports ER and mitochondrial homeostasis, promotes proliferation and migration, plays several roles in metabolism and the immune system, and regulates autophagy and apoptosis. Read More

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STAG2 mutations alter CTCF-anchored loop extrusion, reduce cis-regulatory interactions and EWSR1-FLI1 activity in Ewing sarcoma.

Cancer Cell 2021 Apr 28. Epub 2021 Apr 28.

INSERM U830, Équipe Labellisée LNCC, Diversity and Plasticity of Childhood Tumors Lab, PSL Research University, SIREDO Oncology Centre, Institut Curie Research Centre, 75005 Paris, France; Unité de Génétique Somatique, Service d'oncogénétique, Institut Curie, Centre Hospitalier, 75005 Paris, France. Electronic address:

STAG2, a cohesin family gene, is among the most recurrently mutated genes in cancer. STAG2 loss of function (LOF) is associated with aggressive behavior in Ewing sarcoma, a childhood cancer driven by aberrant transcription induced by the EWSR1-FLI1 fusion oncogene. Here, using isogenic Ewing cells, we show that, while STAG2 LOF profoundly changes the transcriptome, it does not significantly impact EWSR1-FLI1, CTCF/cohesin, or acetylated H3K27 DNA binding patterns. Read More

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