717,229 results match your criteria cellular genetic


Genetic and epigenetic regulation in neoplasms composed of both germ cells and sex cord elements.

Pathol Res Pract 2021 Apr 2;222:153428. Epub 2021 Apr 2.

Department of Pathology and Urology, Indiana University School of Medicine, Van Nuys Medical Science Building 128, 635 Barnhill Drive, Indianapolis, IN, 46202-5120, United States. Electronic address:

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Patient-specific iPSC-derived cellular models of LGMDR1.

Stem Cell Res 2021 Apr 8;53:102333. Epub 2021 Apr 8.

Neuroscience Area, Biodonostia Research Institute, San Sebastian, Spain; CIBERNED, Instituto de Salud Carlos III, Madrid, Spain; Department of Neuroscience, University of the Basque Country, San Sebastian, Spain; Department of Neurology, Hospital Universitario Donostia, San Sebastian, Spain. Electronic address:

Limb-girdle muscular dystrophy recessive 1 (LGMDR1) represents one of the most common types of LGMD in the population, where patients develop a progressive muscle degeneration. The disease is caused by mutations in calpain 3 gene, with over 500 mutations reported to date. However, the molecular events that lead to muscle wasting are not clear, nor the reasons for the great clinical variability among patients, and this has so far hindered the development of effective therapies. Read More

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Potential functions of hsa-miR-155-5p and core genes in chronic myeloid leukemia and emerging role in human cancer: A joint bioinformatics analysis.

Genomics 2021 Apr 13. Epub 2021 Apr 13.

Faculty of Sciences, El Manar University, Tunis, Tunisia; College of Health Sciences, Abu Dhabi University, Abu Dhabi, United Arab Emirates.

Considering the critical roles of hsa-miR-155-5p participated in hematopoietic system, this study aims to clarify the possible pathogenesis of chronic myeloid leukemia (CML) induced by hsa-miR-155-5p.Three different strategies were employed, namely a network-based pipeline, a survival analysis and genetic screening method, and a simulation modeling approach, to assess the oncogenic role of hsa-miR-155-5p in CML. We identified new potential roles of hsa-miR-155-5p in CML, involving the BCR/ABL-mediated leukemogenesis through MAPK signaling. Read More

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Transcriptome analysis of signaling pathways targeted by Ellagic acid in hepatocellular carcinoma cells.

Biochim Biophys Acta Gen Subj 2021 Apr 13:129911. Epub 2021 Apr 13.

Key Laboratory of Saline-alkali Vegetation Ecology Restoration, Ministry of Education, College of Life Science, Northeast Forestry University, Harbin 150040, China. Electronic address:

Background: Ellagic acid (EA) possesses prominent inhibitory activities against various cancers, including hepatocellular carcinoma (HCC). Our recent study demonstrated EA's activities in reducing HCC cell proliferation and tumor formation. However, the mechanisms of EA to exert its anticancer activities and its primary targets in cancer cells have not been systematically explored. Read More

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Defining intermediates and redundancies in coenzyme Q precursor biosynthesis.

J Biol Chem 2021 Apr 14:100643. Epub 2021 Apr 14.

Department of Biochemistry, University of Wisconsin-Madison, Madison, WI 53706, USA; Morgridge Institute for Research, Madison, WI 53715, USA; National Center for Quantitative Biology of Complex Systems, Madison, WI 53562, USA; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, Missouri 63110, USA; Department of Biochemistry and Molecular Biophysics, Washington University School of Medicine, St. Louis, Missouri 63110, USA; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri 63110, USA. Electronic address:

Coenzyme Q (CoQ), a redox-active lipid essential for oxidative phosphorylation, is synthesized by virtually all cells, but how eukaryotes make the universal CoQ head group precursor 4-hydroxybenzoate (4-HB) from tyrosine is unknown. The first and last steps of this pathway have been defined in Saccharomyces cerevisiae, but the intermediates and enzymes involved in converting 4-hydroxyphenylpyruvate (4-HPP) to 4-hydroxybenzaldehyde (4-HBz) have not been described. Here, we interrogate this pathway with genetic screens, targeted LC-MS, and chemical genetics. Read More

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The evolution of insulin therapy.

Authors:
Philip Home

Diabetes Res Clin Pract 2021 Apr 13:108816. Epub 2021 Apr 13.

Translational and Clinical Research Institute, Newcastle University, UK. Electronic address:

Evolution in medicine is generally driven by clinical need, hand in hand with opportunities generated by novel chemical and mechanical engineering technologies. Since 1921 that has been a continuing paradigm for insulin therapy, some advances being a continual process, and others arising from external scientific or engineering developments. Purification of insulin preparations was an early issue, resolved in the 1970s, then challenged by the switch to manufacture in microorganisms. Read More

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Macroautophagy in lymphatic endothelial cells inhibits T cell-mediated autoimmunity.

J Exp Med 2021 Jun;218(6)

Department of Pathology and Immunology, School of Medicine, University of Geneva, Geneva, Switzerland.

Lymphatic endothelial cells (LECs) present peripheral tissue antigens to induce T cell tolerance. In addition, LECs are the main source of sphingosine-1-phosphate (S1P), promoting naive T cell survival and effector T cell exit from lymph nodes (LNs). Autophagy is a physiological process essential for cellular homeostasis. Read More

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[Severe combined immunodeficiency, report of chilean patients diagnosed during the 1999-2020 period].

Rev Chil Pediatr 2020 Dec 21;91(6):908-916. Epub 2020 Oct 21.

Departamento de Pediatría, Hospital Luis Calvo Mackenna, Santiago, Chile.

Introduction: Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency. To date, there is little local information about this disease.

Objective: To describe the epidemiology, complications, prognosis, and use of the BCG vaccine in Chilean patients with SCID. Read More

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December 2020

A framework model using multifilter feature selection to enhance colon cancer classification.

PLoS One 2021 16;16(4):e0249094. Epub 2021 Apr 16.

School of Computing and Engineering, University of Huddersfield, Huddersfield, United Kingdom.

Gene expression profiles can be utilized in the diagnosis of critical diseases such as cancer. The selection of biomarker genes from these profiles is significant and crucial for cancer detection. This paper presents a framework proposing a two-stage multifilter hybrid model of feature selection for colon cancer classification. Read More

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Podocyte Sphingolipid Signaling in Nephrotic Syndrome.

Cell Physiol Biochem 2021 Apr;55(S4):13-34

Department of Pharmacology and Toxicology, School of Medicine, Virginia Commonwealth University, Richmond, VA, USA,

Podocytes play a vital role in the pathogenesis of nephrotic syndrome (NS), which is clinically characterized by heavy proteinuria, hypoalbuminemia, hyperlipidemia, and peripheral edema. The pathogenesis of NS has evolved through several hypotheses ranging from immune dysregulation theory and increased glomerular permeability theory to the current concept of podocytopathy. Podocytopathy is characterized by dysfunction or depletion of podocytes, which may be caused by unknown permeability factor, genetic disorders, drugs, infections, systemic disorders, and hyperfiltration. Read More

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Whole inactivated dengue virus-loaded trimethyl chitosan nanoparticle-based vaccine: immunogenic properties in and models.

Hum Vaccin Immunother 2021 Apr 16:1-15. Epub 2021 Apr 16.

Department of Microbiology, Faculty of Science, Mahidol University, Bangkok, Thailand.

Dengue virus (DENV) is a mosquito-borne virus that poses an incomparable public health problem, particularly in tropical and subtropical areas. Vaccination remains the most rational measure for controlling DENV infection. In this study, an ultraviolet irradiation (UV)-inactivated DENV-2 carried by -trimethyl chitosan nanoparticles (UV-inactivated DENV2 TMC NPs) was investigated as a potential non-replicating dengue vaccine candidate. Read More

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Human DND1-RRM2 forms a non-canonical domain swapped dimer.

Protein Sci 2021 Apr 16. Epub 2021 Apr 16.

Transcription Regulation group, International Centre for Genetic Engineering and Biotechnology (ICGEB), New Delhi, India.

RNA Recognition Motif (RRM) being the most abundant RNA binding domain in eukaryotes, is a major player in cellular regulation. Several variations in the canonical βαββαβ topology have been observed. We have determined the 2. Read More

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Origins and mechanisms leading to aneuploidy in human eggs.

Prenat Diagn 2021 Apr 22;41(5):620-630. Epub 2021 Mar 22.

Department of Genetics, Rutgers, The State University of New Jersey, Piscataway, New Jersey, USA.

The gain or loss of a chromosome-or aneuploidy-acts as one of the major triggers for infertility and pregnancy loss in humans. These chromosomal abnormalities affect more than 40% of eggs in women at both ends of the age spectrum, that is, young girls as well as women of advancing maternal age. Recent studies in human oocytes and embryos using genomics, cytogenetics, and in silico modeling all provide new insight into the rates and potential genetic and cellular factors associated with aneuploidy at varying stages of development. Read More

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IgG4-related kidney disease: Pathogenesis, diagnosis, and treatment.

Clin Nephrol 2021 Apr 16. Epub 2021 Apr 16.

IgG4-related disease (IgG4-RD) is a recently recognized multisystem disease characterized by lymphoplasmacytic inflammation and fibrosis in affected tissues that can affect several organs including the kidney, the involvement of which is often manifested by tubulointerstitial nephritis. The pathogenic mechanisms of IgG4-RD are divided into two sections: one focused on potential initiation mechanisms, particularly genetic, and the other on specific pathological pathways. For the specific pathological pathways, cellular immunity, particularly T-cell mediated immunity, has been implicated in the pathogenesis of IgG4-RD. Read More

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Intracerebroventricular Administration of AAV9-PHP.B SYN1-EmGFP Induces Widespread Transgene Expression in the Mouse and Monkey CNS.

Hum Gene Ther 2021 Apr 16. Epub 2021 Apr 16.

Emory University, 1371, Yerkes National Primate Research Center, Atlanta, Georgia, United States.

Viral vectors made from adeno-associated virus (AAV) have emerged as preferred tools in basic and translational neuroscience research to introduce or modify genetic material in cells of interest. The use of viral vectors is particularly attractive in non-transgenic species, such as non-human primates. Injections of AAV solutions into the cerebrospinal fluid (CSF) is an effective method to achieve a broad distribution of a transgene in the central nervous system. Read More

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Omics in Seminal Plasma: An Effective Strategy for Predicting Sperm Retrieval Outcome in Non-obstructive Azoospermia.

Mol Diagn Ther 2021 Apr 15. Epub 2021 Apr 15.

Department of Obstetrics and Gynecology, Erlangen University Hospital, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.

Non-obstructive azoospermia (NOA) is a severe form of male factor infertility resulting from the impairment of sperm production. Surgical sperm retrieval followed by intracytoplasmic sperm injection (ICSI) is the only alternative for NOA patients to have their own genetic children. Nevertheless, due to an approximately 50% chance of success, harvesting sperm from these patients remains challenging. Read More

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Kv7 Channels and Excitability Disorders.

Handb Exp Pharmacol 2021 Apr 16. Epub 2021 Apr 16.

Department of Pharmacology, Hebei Medical University, Shijiazhuang, China.

Kv7.1-Kv7.5 (KCNQ1-5) K channels are voltage-gated K channels with major roles in neurons, muscle cells and epithelia where they underlie physiologically important K currents, such as neuronal M current and cardiac I. Read More

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Anatomical and biochemical studies of Spartium junceum infected by Xylella fastidiosa subsp. multiplex ST 87.

Protoplasma 2021 Apr 15. Epub 2021 Apr 15.

Dipartimento di Biologia, Università degli studi di Firenze, via P.A. Micheli 3, 50121, Firenze, Italy.

Spartium junceum L. is a typical species of Mediterranean shrubland areas, also grown in gardens and parks as an ornamental. In recent years in Europe, S. Read More

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Phosphoglycerate mutase 1 (PGAM1) overexpression promotes radio- and chemoresistance in gliomas by activating the DNA damage response.

Mol Cell Oncol 2021 22;8(2):1875804. Epub 2021 Mar 22.

Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA, USA.

The glycolytic enzyme PGAM1 is overexpressed in gliomas where it efficiently facilitates the repair of DNA damage. Mechanistically, PGAM1 prevents inactivation of the ataxia-telangiectasia mutated (ATM) signaling pathway by sequestering the wild-type p53-induced phosphatase 1 (WIP1) in the cytoplasm. Genetic inhibition of PGAM1 expression subsequently sensitizes glioma cells against irradiation and chemotherapy-induced DNA damage. Read More

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Molecular optimization, docking, and dynamic simulation profiling of selective aromatic phytochemical ligands in blocking the SARS-CoV-2 S protein attachment to ACE2 receptor: an approach of targeted drug designing.

J Adv Vet Anim Res 2021 Mar 5;8(1):24-35. Epub 2021 Mar 5.

Biotechnology and Genetic Engineering Discipline, Life Science School, Khulna University, Khulna, Bangladesh.

Objectives: The comprehensive study aims to figure out the most effective aromatic phytochemical ligands among a number from a library, considering their pharmacokinetic efficacies in blocking "angiotensin-converting enzyme 2 (ACE2) receptor-severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) S protein" complex formation as part of a target-specific drug designing.

Materials And Methods: A library of 57 aromatic pharmacophore phytochemical ligands was prepared from where the top five ligands depending on Absorption, Distribution, Metabolism, Excretion, and Toxicity (ADMET) and quantitative structure-activity relationship (QSAR)-based pharmacokinetic properties were considered. The selected ligands were optimized for commencing molecular docking and dynamic simulation as a complex with the ACE2 receptor to compare their blocking efficacy with the control drug. Read More

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Blood Will Tell: What Hematological Analyses Can Reveal About Fish Welfare.

Front Vet Sci 2021 30;8:616955. Epub 2021 Mar 30.

Institute of Genome Biology, Leibniz Institute for Farm Animal Biology (FBN), Dummerstorf, Germany.

Blood analyses provide substantial information about the physiological aspects of animal welfare assessment, including the activation status of the neuroendocrine and immune system, acute and long-term impacts due to adverse husbandry conditions, potential diseases, and genetic predispositions. However, fish blood is still not routinely analyzed in research or aquaculture for the assessment of health and/or welfare. Over the years, the investigative techniques have evolved from antibody-based or PCR-based single-parameter analyses to now include transcriptomic, metabolomic, and proteomic approaches and from hematological observations to fluorescence-activated blood cell sorting in high-throughput modes. Read More

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Homogeneous tumor targeting with a single dose of HER2-targeted albumin-binding domain-fused nanobody-drug conjugates results in long-lasting tumor remission in mice.

Theranostics 2021 13;11(11):5525-5538. Epub 2021 Mar 13.

Cell Biology, Neurobiology and Biophysics, Department of Biology, Faculty of Science, Utrecht University, Utrecht, The Netherlands.

The non-homogenous distribution of antibody-drug conjugates (ADCs) within solid tumors is a major limiting factor for their wide clinical application. Nanobodies have been shown to rapidly penetrate into xenografts, achieving more homogeneous tumor targeting. However, their rapid renal clearance can hamper their application as nanobody drug conjugates (NDCs). Read More

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c-MYC-directed NRF2 drives malignant progression of head and neck cancer via glucose-6-phosphate dehydrogenase and transketolase activation.

Theranostics 2021 11;11(11):5232-5247. Epub 2021 Mar 11.

Institute of Biotechnology and Pharmaceutical Research, National Health Research Institutes, Miaoli, Taiwan.

NRF2, a redox sensitive transcription factor, is up-regulated in head and neck squamous cell carcinoma (HNSCC), however, the associated impact and regulatory mechanisms remain unclear. The protein expression of NRF2 in HNSCC specimens was examined by IHC. The regulatory effect of c-MYC on NRF2 was validated by ChIP-qPCR, RT-qPCR and western blot. Read More

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Disparate Interferon Signaling and Shared Aberrant Basaloid Cells in Single-Cell Profiling of Idiopathic Pulmonary Fibrosis and Systemic Sclerosis-Associated Interstitial Lung Disease.

Front Immunol 2021 30;12:595811. Epub 2021 Mar 30.

Division of Rheumatology and Clinical Immunology, University of Pittsburgh, Pittsburgh, PA, United States.

Idiopathic pulmonary fibrosis (IPF) and systemic sclerosis-associated interstitial lung disease (SSc-ILD) differ in the predominant demographics and identified genetic risk alleles of effected patients, however both diseases frequently progress to respiratory failure and death. Contrasting advanced SSc-ILD to IPF provides insight to the role dysregulated immunity may play in pulmonary fibrosis. To analyze cell-type specific transcriptome commonalities and differences between IPF and SSc-ILD, we compared single-cell RNA-sequencing (scRNA-seq) of 21 explanted lung tissue specimens from patients with advanced IPF, SSc-ILD, and organ donor controls. Read More

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The Making of Long-Lasting Memories: A Fruit Fly Perspective.

Front Behav Neurosci 2021 30;15:662129. Epub 2021 Mar 30.

Department of Biology, Georgetown University, Washington, DC, United States.

Understanding the nature of the molecular mechanisms underlying memory formation, consolidation, and forgetting are some of the fascinating questions in modern neuroscience. The encoding, stabilization and elimination of memories, rely on the structural reorganization of synapses. These changes will enable the facilitation or depression of neural activity in response to the acquisition of new information. Read More

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Cellular uptake of large biomolecules enabled by cell-surface-reactive cell-penetrating peptide additives.

Nat Chem 2021 Apr 15. Epub 2021 Apr 15.

Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.

Enabling the cellular delivery and cytosolic bioavailability of functional proteins constitutes a major challenge for the life sciences. Here we demonstrate that thiol-reactive arginine-rich peptide additives can enhance the cellular uptake of protein-CPP conjugates in a non-endocytic mode, even at low micromolar concentration. We show that such thiol- or HaloTag-reactive additives can result in covalently anchored CPPs on the cell surface, which are highly effective at co-delivering protein cargoes. Read More

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A guide to interrogating immunometabolism.

Nat Rev Immunol 2021 Apr 15. Epub 2021 Apr 15.

Vanderbilt Center for Immunobiology, Department of Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.

The metabolic charts memorized in early biochemistry courses, and then later forgotten, have come back to haunt many immunologists with new recognition of the importance of these pathways. Metabolites and the activity of metabolic pathways drive energy production, macromolecule synthesis, intracellular signalling, post-translational modifications and cell survival. Immunologists who identify a metabolic phenotype in their system are often left wondering where to begin and what does it mean? Here, we provide a framework for navigating and selecting the appropriate biochemical techniques to explore immunometabolism. Read More

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Computational identification of variables in neonatal vocalizations predictive for postpubertal social behaviors in a mouse model of 16p11.2 deletion.

Mol Psychiatry 2021 Apr 15. Epub 2021 Apr 15.

Department of Pharmacology, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA.

Autism spectrum disorder (ASD) is often signaled by atypical cries during infancy. Copy number variants (CNVs) provide genetically identifiable cases of ASD, but how early atypical cries predict a later onset of ASD among CNV carriers is not understood in humans. Genetic mouse models of CNVs have provided a reliable tool to experimentally isolate the impact of CNVs and identify early predictors for later abnormalities in behaviors relevant to ASD. Read More

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Serotonin-induced vascular permeability is mediated by transient receptor potential vanilloid 4 in the airways and upper gastrointestinal tract of mice.

Lab Invest 2021 Apr 15. Epub 2021 Apr 15.

School of Medical Sciences and Health Innovations Research Institute, RMIT University, Bundoora, VIC, Australia.

Endothelial and epithelial cells form physical barriers that modulate the exchange of fluid and molecules. The integrity of these barriers can be influenced by signaling through G protein-coupled receptors (GPCRs) and ion channels. Serotonin (5-HT) is an important vasoactive mediator of tissue edema and inflammation. Read More

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Sustained intrinsic WNT and BMP4 activation impairs hESC differentiation to definitive endoderm and drives the cells towards extra-embryonic mesoderm.

Sci Rep 2021 Apr 15;11(1):8242. Epub 2021 Apr 15.

Research Group Reproduction and Genetics, Faculty of Medicine and Pharmacy, Vrije Universiteit Brussel, Brussels, Laarbeeklaan 103, Jette, 1090, Brussels, Belgium.

We identified a human embryonic stem cell subline that fails to respond to the differentiation cues needed to obtain endoderm derivatives, differentiating instead into extra-embryonic mesoderm. RNA-sequencing analysis showed that the subline has hyperactivation of the WNT and BMP4 signalling. Modulation of these pathways with small molecules confirmed them as the cause of the differentiation impairment. Read More

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