943,752 results match your criteria mutation c523g > a


CircAMD1 regulates proliferation and collagen synthesis via sponging miR-27a-3p in P63-mutant human dermal fibroblasts.

Differentiation 2021 Apr 30;119:10-18. Epub 2021 Apr 30.

Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang, China.

Transcription factor p63 has critical functions in epidermal, hindgut/anorectal, and limb development. Human mutations in P63 correlate with congenital syndromes affecting the skin, anorectal, and limbs. Nevertheless, less are detected regarding networks and functions controlled by P63 mutations in dermal fibroblasts, which are closely related to skin physiology. Read More

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Effect of mismatch repair on the mutational footprint of the bacterial SOS mutator activity.

DNA Repair (Amst) 2021 May 9;103:103130. Epub 2021 May 9.

Department of Medicine, Division of Infectious Diseases, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address:

The bacterial SOS response to DNA damage induces an error-prone repair program that is mutagenic. In Escherichia coli, SOS-induced mutations are caused by the translesion synthesis (TLS) activity of two error-prone polymerases (EPPs), Pol IV and Pol V. The mutational footprint of the EPPs is confounded by both DNA damage and repair, as mutations are targeted to DNA lesions via TLS and corrected by the mismatch repair (MMR) system. Read More

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A novel GSK-3 inhibitor binds to GSK-3β via a reversible, time and Cys-199-dependent mechanism.

Bioorg Med Chem 2021 Apr 27;40:116179. Epub 2021 Apr 27.

Department of Chemical and Biomolecular Engineering, Ohio University, Athens, OH 45701, United States; Biomedical Engineering Program, Ohio University, Athens, OH 45701, United States. Electronic address:

Glycogen synthase kinase-3 (GSK-3) has been implicated in numerous pathologies making GSK-3 an attractive therapeutic target. Our group has identified a compound termed COB-187 that is a potent and selective inhibitor of GSK-3. In this study, we probed the mechanism by which COB-187 inhibits GSK-3β. Read More

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The phosphorylation of phosphoglucosamine mutase GlmM by Ser/Thr kinase STK mediates cell wall synthesis and virulence in Streptococcus suis serotype 2.

Vet Microbiol 2021 May 6;258:109102. Epub 2021 May 6.

MOE Joint International Research Laboratory of Animal Health and Food Safety, College of Veterinary Medicine, Nanjing Agricultural University, Nanjing 210095, China; Jiangsu Co-innovation Center for Prevention and Control of Important Animal Infectious Diseases and Zoonoses, Yangzhou University, Yangzhou 225009, China. Electronic address:

Streptococcus suis serotype 2 (SS2) is an important zoonotic pathogen that causes serious economic losses in the pig industry. Phosphorylation is an important mechanism of protein modification. Recent studies have reported that the serine/threonine kinase (STK) gene contributes to the growth and virulence of SS2. Read More

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Draft genome sequence of a carbapenamase-producing (bla) and multidrug-resistant hypervirulent Klebsiella pneumoniae isolate (ST11) from Pakistan, with a non-hypermucoviscous phenotype associated with rmpA2 mutation.

J Glob Antimicrob Resist 2021 May 12. Epub 2021 May 12.

University of Reading, Quaid-i-Azam University. Electronic address:

Introduction: ST11 is a high-risk sequence type associated with carbapenem-resistant K. pneumoniae strains. Carbapenemase-producing (CP) hypervirulent K. Read More

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QTL mapping in Fusarium graminearum identified an allele of FgVe1 involved in reduced aggressiveness.

Fungal Genet Biol 2021 May 12:103566. Epub 2021 May 12.

INRAE, MycSA, F-33882, Villenave d'Ornon, France. Electronic address:

Fusarium graminearum is one of the most frequent causal agents of the Fusarium Head Blight, a cereal disease spread throughout the world, reducing grain production and quality. F. graminearum isolates are genetically and phenotypically highly diverse. Read More

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Identification of the core promoter of ZNFO, an oocyte-specific maternal effect gene in cattle.

Gene 2021 May 12:145717. Epub 2021 May 12.

Laboratory of Animal Biotechnology and Genomics, Division of Animal and Nutritional Sciences, West Virginia University, Morgantown, WV 26506, USA. Electronic address:

ZNFO is a Krüppel-associated box (KRAB) containing zinc finger transcription factor, which is exclusively expressed in bovine oocytes. Previous studies have demonstrated that ZNFO possesses an intrinsic transcriptional repressive activity and is essential for early embryonic development in cattle. However, the mechanisms regulating ZNFO transcription remain elusive. Read More

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Identification of novel drug resistance mechanisms by genomic and transcriptomic profiling of glioblastoma cells with mutation-activated EGFR.

Life Sci 2021 May 12:119601. Epub 2021 May 12.

Department of Pharmaceutical Biology, Institute of Pharmaceutical and Biomedical Sciences, Johannes Gutenberg University, Mainz, Germany. Electronic address:

Aims: Epidermal growth factor receptor (EGFR) is not only involved in carcinogenesis, but also in chemoresistance. We characterized U87.MGΔEGFR glioblastoma cells with constitutively active EGFR due to deletion at the ligand binding domain in terms of gene expression profiling and chromosomal aberrations. Read More

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The E3 ligase TRAF4 Promotes IGF Signaling by Mediating Atypical Ubiquitination of IRS-1.

J Biol Chem 2021 May 12:100739. Epub 2021 May 12.

Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

Insulin-like growth factor (IGF) is a potent mitogen that activates the IGF receptor (IGFR)/insulin receptor substrate (IRS) axis, thus stimulating growth in normal cells and uncontrolled cell proliferation in cancer. Post-translational modifications of IRS such as ubiquitination tightly control IGF signaling, and we previously identified IRS-1 as a potential substrate for the E3 ubiquitin ligase TRAF4 using an unbiased screen. Here we provide evidence that TRAF4-mediated ubiquitination of IRS-1 is physiologically relevant and crucial for IGF signal transduction. Read More

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Epitope profiling reveals binding signatures of SARS-CoV-2 immune response in natural infection and cross-reactivity with endemic human CoVs.

Cell Rep 2021 May 6:109164. Epub 2021 May 6.

Human Biology Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA. Electronic address:

A major goal of current severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccine efforts is to elicit antibody responses that confer protection. Mapping the epitope targets of the SARS-CoV-2 antibody response is critical for vaccine design, diagnostics, and development of therapeutics. Here, we develop a pan-coronavirus phage display library to map antibody binding sites at high resolution within the complete viral proteomes of all known human-infecting coronaviruses in patients with mild or moderate/severe coronavirus disease 2019 (COVID-19). Read More

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Transmission, infectivity, and neutralization of a spike L452R SARS-CoV-2 variant.

Cell 2021 Apr 20. Epub 2021 Apr 20.

Los Angeles County Public Health Laboratories, Downey, CA 90242, USA.

We identified an emerging severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variant by viral whole-genome sequencing of 2,172 nasal/nasopharyngeal swab samples from 44 counties in California, a state in the western United States. Named B.1. Read More

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High prevalence of BRAF in patients with cholestasis, sclerosing cholangitis or liver fibrosis secondary to Langerhans cell histiocytosis.

Pediatr Blood Cancer 2021 May 15:e29115. Epub 2021 May 15.

Hematology/Oncology Department, Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan, Buenos Aires, Argentina.

Targeted therapies with MAPK inhibitors have proven to modulate the clinical manifestations of patients with Langerhans cell histiocytosis (LCH). We explored the presence of BRAF mutation in our cohort of patients with LCH and cholestasis, sclerosing cholangitis, or liver fibrosis that presented resistance to chemotherapy. The BRAF mutation was detected either in the diagnosis (skin and bone) or liver biopsy in our cohort of 13 patients. Read More

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Inotuzumab Ozogamicin with Bosutinib for Relapsed or Refractory Philadelphia Chromosome Positive Acute Lymphoblastic Leukemia or Lymphoid Blast Phase of Chronic Myeloid Leukemia.

Am J Hematol 2021 May 15. Epub 2021 May 15.

Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX.

Relapsed/refractory (R/R) Philadelphia chromosome positive acute lymphoblastic leukemia (Ph+ ALL) and lymphoid blast phase of chronic myeloid leukemia (LBP-CML) have poor outcomes. We designed a phase 1/2 study combining inotuzumab ozogamicin with bosutinib for this patient population. Patients with T315I mutation were excluded. Read More

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Bacillus subtilis High Cell Density Fermentation Using a Sporulation-Deficient Strain for the Production of Surfactin.

Appl Microbiol Biotechnol 2021 May 15. Epub 2021 May 15.

Department of Bioprocess Engineering (150 k), Institute of Food Science and Biotechnology (150), University of Hohenheim, Fruwirthstr. 12, 70599, Stuttgart, Germany.

Bacillus subtilis 3NA is a strain capable of reaching high cell densities. A surfactin producing sfp variant of this strain, named JABs32, was utilized in fed-batch cultivation processes. Both a glucose and an ammonia solution were fed to set a steady growth rate μ of 0. Read More

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H3F3A-mutated Giant Cell Tumour of Bone without Giant Cells - Clinical Presentation, Radiology, and Histology of Three Cases.

Histopathology 2021 May 15. Epub 2021 May 15.

Bone Tumour Reference Center at the Institute of Pathology, University Hospital Basel, Basel, Switzerland.

Aims: Giant cell tumour of bone (GCTB) is histologically defined as a lesion containing reactive giant cells and a neoplastic mononuclear cell population; in up to 92% GCTB is characterized by a specific mutation of the histone gene H3F3A. The cellular composition ranges from giant cell-rich to giant cell-poor tumours. The diagnosis of GCTB can be challenging and several other lesions need to be excluded, e. Read More

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Field-evolved resistance to beta-cyfluthrin in the boll weevil - detection and characterization.

Pest Manag Sci 2021 May 14. Epub 2021 May 14.

Departamento de Agronomia - Entomologia, Universidade Federal Rural de Pernambuco, Rua Dom Manoel de Medeiros, s/n, Dois Irmãos, CEP, 52171-900, Recife, Prince Edward Island, Brazil.

Background: Insecticide resistance in arthropods is an inherited trait that has become a major cause of insect pest control failure. Monitoring the level of susceptibility and characterization of the type of resistance of key pest species aims to determine the risk of resistance selection in time to take actions to mitigate control failures. Seven populations of the boll weevil, Anthonomus grandis grandis, collected from cotton fields in the Semiarid and Cerrado areas of Brazil, were screened for their resistance to malathion and beta-cyfluthrin, insecticides widely recommended for control of boll weevil and other pests. Read More

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A Real-World Analysis of Patients with Untreated Metastatic Epidermal Growth Factor Receptor (EGFR)-Mutated Lung Adenocarcinoma Receiving First-Line Erlotinib and Bevacizumab Combination Therapy.

Oncol Ther 2021 May 15. Epub 2021 May 15.

Department of Thoracic Medicine, Chang Gung Memorial Hospital at Linkou, No. 5, Fuxing 1st Rd., Guishan Dist., Taoyuan City, 333005, Taiwan.

Introduction: The clinical features of patients with metastatic epidermal growth factor receptor (EGFR)-mutated lung adenocarcinoma receiving first-line therapy based on erlotinib combined with bevacizumab are unclear. Here, we sought to analyze the clinical features of this patient group.

Methods: Data were analyzed for the period from January 2015 to August 2019 for 49 patients with metastatic EGFR-mutated lung adenocarcinoma receiving first-line erlotinib-and-bevacizumab combination therapy from the Linkou and Kaohsiung Chang Gung Memorial Hospitals. Read More

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Cytoplasmic Mislocalization of RNA Polymerase II Subunit RPB1 in Alzheimer Disease Is Linked to Pathologic Tau.

J Neuropathol Exp Neurol 2021 May 15. Epub 2021 May 15.

From the Department of Neurology, MassGeneral Institute for Neurodegenerative Disease, Massachusetts General Hospital, Charlestown, Massachusetts (JRD, HY, BTH); Harvard Medical School, Boston, Massachusetts (JRD, HY, MPF, BTH); C.S. Kubik Laboratory for Neuropathology, Department of Pathology, and Neurology Service, Massachusetts General Hospital, Boston, Massachusetts (MPF).

Abnormal protein accumulation and mislocalization is a general hallmark of Alzheimer disease. Recent data suggest nucleocytoplasmic transport may be compromised by tau in Alzheimer disease. In this context, we have examined the RNA polymerase II subunit RPB1, which is the catalytic subunit that plays a critical role in transcription. Read More

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TSC loss is a clonal event in eosinophilic solid and cystic renal cell carcinoma: a multiregional tumor sampling study.

Mod Pathol 2021 May 14. Epub 2021 May 14.

Department of Diagnostics and Public Health, University of Verona, Verona, Italy.

Eosinophilic, solid and cystic (ESC) renal cell carcinoma (RCC) is characterized by a solid and cystic architecture with cells showing abundant eosinophilic cytoplasm with hobnail arrangement and a cytokeratin 7-negative/cytokeratin 20-positive immunophenotype. Recent studies have suggested that bi-allelic events affecting TSC genes might play an important role for such tumors. However, only indirect evidence of the clonal origin of TSC mutation has been gathered so far. Read More

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Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro.

Commun Biol 2021 May 14;4(1):584. Epub 2021 May 14.

Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.

Most humans carry a mixed population of mitochondrial DNA (mtDNA heteroplasmy) affecting ~1-2% of molecules, but rapid percentage shifts occur over one generation leading to severe mitochondrial diseases. A decrease in the amount of mtDNA within the developing female germ line appears to play a role, but other sub-cellular mechanisms have been implicated. Establishing an in vitro model of early mammalian germ cell development from embryonic stem cells, here we show that the reduction of mtDNA content is modulated by oxygen and reaches a nadir immediately before germ cell specification. Read More

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Analysis of Mycobacterium africanum in the last 17 years in Aragon identifies a specific location of IS6110 in Lineage 6.

Sci Rep 2021 May 14;11(1):10359. Epub 2021 May 14.

Fundación IIS Aragón, Zaragoza, Spain.

The purpose of this study was to increase our knowledge about Mycobacterium africanum and report the incidence and characteristics of tuberculosis (TB) due to their lineages in Aragon, Spain, over the period 2003-2019. The study includes all the cases in our region, where all the M. tuberculosis complex isolates are systematically characterised. Read More

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Context-specific action of macrolide antibiotics on the eukaryotic ribosome.

Nat Commun 2021 May 14;12(1):2803. Epub 2021 May 14.

Center for Biomolecular Sciences, University of Illinois at Chicago, Chicago, IL, USA.

Macrolide antibiotics bind in the nascent peptide exit tunnel of the bacterial ribosome and prevent polymerization of specific amino acid sequences, selectively inhibiting translation of a subset of proteins. Because preventing translation of individual proteins could be beneficial for the treatment of human diseases, we asked whether macrolides, if bound to the eukaryotic ribosome, would retain their context- and protein-specific action. By introducing a single mutation in rRNA, we rendered yeast Saccharomyces cerevisiae cells sensitive to macrolides. Read More

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The Longest Infectious Virus Shedding in a Child Infected With the G614 Strain of SARS-CoV-2.

Pediatr Infect Dis J 2021 May 7. Epub 2021 May 7.

From the Division of Infectious Disease, Department of Pediatrics, Medical School of Ege University, Izmir, Turkey Department of Virology, Faculty of Veterinary Medicine, Ankara, Turkey.

COVID-19 spread globally and caused over 97 million cases with more than 2 million deaths. There is still ongoing discussion on the duration of infectious interval SARS-CoV-2 infection. Symptomatic children had longer virus shedding and there are some reports of prolonged infectious virus shedding in adults particularly patients having an immunocompromised status. Read More

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Should we or should we not? Risk reduction bilateral salpingectomy for BRCA mutation carriers.

Int J Gynecol Cancer 2021 May 14. Epub 2021 May 14.

Instituto de Medicina Integral Prof Fernando Figueira, Recife, Brazil.

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Response to: Should we or should we not? Risk reduction bilateral salpingectomy for BRCA mutation carriers.

Int J Gynecol Cancer 2021 May 14. Epub 2021 May 14.

Istituto di Ostetricia e Ginecologia, Fondazione Policlinico Universitario A Gemelli, IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.

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Foot ischemia related to essential thrombocytemia and atherosclerosis.

J Med Vasc 2021 May 27;46(3):123-128. Epub 2021 Apr 27.

Vascular medicine department, GH Paris Saint-Joseph, Paris, France.

We report two cases of foot ischemia combining microvascular thrombosis related to essential thrombocytemia (ET) and a proximal ulcerating atherosclerotic plaque. This suggests that myeloproliferative neoplasms could also trigger distal embolism from an unstable atherosclerotic plaque by creating a prothrombotic status. These distal ischemic events were the first ET manifestation and therefore lead to myeloproliferative neoplasm diagnosis. Read More

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Comprehensive analysis of clinical, pathological, and genomic characteristics of follicular helper T-cell derived lymphomas.

Exp Hematol Oncol 2021 May 14;10(1):33. Epub 2021 May 14.

Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81, Irwon-ro, Gangnam-Gu, Seoul, 06351, Korea.

Background: The 2016 World Health Organization (WHO) classification introduced nodal lymphomas of T follicular helper (Tfh) cell origin, such as angioimmunoblastic T-cell lymphoma (AITL), follicular peripheral T-cell lymphoma (F-PTCL), and nodal peripheral T-cell lymphoma with T follicular helper phenotype (nodal PTCL with TFH phenotype). However, the accurate incidence rate and clinical characteristics of F-PTCL and nodal PTCL with TFH are unstudied.

Methods: Between February 2012 to June 2020, a total of 207 cases diagnosed with nodal lymphomas of T follicular helper (Tfh) cell origin and PTCL-NOS were reviewed for clinical and histopathologic data. Read More

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Massive advancing non-exudative type 1 choroidal neovascularization in CTRP5 Late Onset Retinal Degeneration: longitudinal findings on multimodal imaging and implications for age-related macular degeneration.

Retina 2021 May 3. Epub 2021 May 3.

Division of Epidemiology and Clinical Applications, National Eye Institute, National Institutes of Health, Bethesda, MD, USA Center for Ocular Regenerative Therapy, UC Davis Eye Center, University of California Davis, Sacramento, CA, USA.

Purpose: To describe longitudinal multimodal imaging findings of non-exudative choroidal neovascularization (CNV) in CTRP5 late-onset retinal degeneration (CTRP5-LORD).

Methods: Four patients with CTRP5-positive LORD underwent repeated ophthalmoscopic examination and multimodal imaging. All four patients (two siblings and their cousins, from a pedigree described previously) had the heterozygous S163R mutation. Read More

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Endometrial Carcinoma as the Presenting Malignancy in a Teenager With a Pathogenic TP53 Germline Mutation: A Case Report and Literature Review.

Int J Gynecol Pathol 2021 May 12. Epub 2021 May 12.

Department of Pathology, Yale-New Haven Hospital, Yale School of Medicine (L.I., K.E.F., V.P.) Department of Obstetrics and Reproductive Sciences, Yale University School of Medicine, New Haven (V.P.) Department of Obstetrics and Gynecology, Yale-New Haven Health, Bridgeport Hospital, Bridgeport, Connecticut (M.C.) Department of Pathology, University of California San Diego, San Diego, California (O.F.).

Patients with germline TP53 mutations are characterized by the occurrence of multiple early-onset malignancies. The characteristic syndrome is Li-Fraumeni syndrome (OMIM # 151623), an autosomal dominant disorder typified by premenopausal breast carcinoma, adrenal cortical tumors, bone and soft tissue sarcomas, leukemias, and tumors of the brain and spinal cord. Gynecologic malignancies are uncommonly reported in families harboring TP53 mutations, and the predominant tumor type reported is ovarian. Read More

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