• Nucleic acid represents the ideal drug candidate for protein targets that are hard to target or against which drug development is not easy. (bvsalud.org)
  • Impaired protein homeostasis, though well established in age-related disorders, has been linked in recent research with the pathogenesis of myeloproliferative neoplasms (MPNs). (stanford.edu)
  • For this, the Sfmbt protein complex was affinity purified from the nuclear extract, followed by highly specific peptide sequencing (IP/LC-MS). As a result, a number of previously uncharacterized Sfmbt interactions were discovered. (sdbonline.org)
  • Early approaches were based on gene addition, where a new DNA copy of a gene is introduced to complement a genetic mutation: however, the advent of RNA-based products that can directly express a therapeutic protein or manipulate gene expression, together with the expanding range of tools for gene editing, has stimulated the development of alternative approaches. (bvsalud.org)
  • This process requires a transient intermediary called messenger RNA that carries the genetic information to the cell machinery responsible for protein synthesis. (rodefshalom613.org)
  • The cytosol progesterone-receptor complex then associates with the nucleic acids to initiate protein synthesis. (lookformedical.com)
  • Some studies have suggested a role for this protein in maintaining centriole-nucleated sensory organelles termed primary cilia, and AS is now considered to belong to the growing class of human genetic disorders linked to ciliary dysfunction (ciliopathies). (springer.com)
  • Because BRCA mutations are observed in fewer than 10% of cancer patients (cBioPortal: 6.7%) 11 , 12 , 13 the identification of additional genes that share synthetic lethal sensitivity relationships with mutated oncogenes or tumor suppressors would greatly enhance the implementation of tumor cell-specific synthetic lethal sensitivity to improve an anticancer therapeutic response. (nature.com)
  • Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val. (univ-paris5.fr)
  • Consistent with the hypothesis that mutations in essential genes are risk factors for neurodevelopmental disease, we show that de novo variants in patients with Autism Spectrum Disorder are more likely to occur in this collection of genes. (prolekarniky.cz)
  • Historic estimates of the number of deleterious mutations per diploid human genome, based primarily on survival data from consanguineous marriages, vary significantly from 2-3 to 100 lethal equivalents, i.e. alleles or combinations of alleles that if made homozygous would be lethal [4] - [7] . (prolekarniky.cz)
  • Also, there is a theory that our cells in the body keep sending out nucleic acids and one theory has it that it seems to correct the mistakes that other cells have suffered from mutations. (scentoferos.com)
  • SL originally described a relationship between two genes, where alteration of either gene alone results in viable cells, but alteration (mutation, loss, or inhibition) of both genes simultaneously was lethal. (nature.com)
  • Moreover, genetic and simple obesity share similar structural and functional features of dysbiosis, such as higher production of toxins with known potential to induce metabolic deteriorations (e.g. trimethylamine-N-oxide and indoxyl sulphate), higher abundance of genomes containing genes coding enzymes involved in the production of these toxic co-metabolites and higher abundance of pathways for biosynthesis of bacterial antigens (such as endotoxin) [13-15]. (deepdyve.com)
  • Here we use detailed phenotypic resources available for the mouse and deep genomics sequencing data from human populations to characterize patterns of genetic variation and mutational burden in a set of 2,472 human orthologs of known essential genes in the mouse. (prolekarniky.cz)
  • As a first step towards improvement of drought tolerance via genetic engineering in plant, genes with functions in drought tolerance should be cloned and characterized. (biomedcentral.com)
  • TFs are known as master switch in plant stress response, and genetic transformation of the genes encoding TFs has been suggested as a possible approach for engineering stress tolerance as manipulation of a single TF can alter expression of a wide array of target genes [ 7 ]. (biomedcentral.com)
  • Recycling maintains a pool of biotin to serve as a critical cofactor for gluconeogenesis, fatty acid synthesis, and branched chain amino acid catabolism. (medscape.com)
  • Metabolic impairment leads to abnormalities in fatty acid synthesis, amino acid catabolism, and gluconeogenesis. (medscape.com)
  • Endostatin, a 183 amino acid proteolytic cleavage fragment corresponding to the C-terminus of collagen 18, has been the subject of investigation by a number of laboratories because of its anti-tumor activity with no toxic side effects (O'Reilly et al. (justia.com)
  • PtrABF had a complete open reading frame of 1347 bp, encoding a 448 amino acid peptide, and shared high sequence identities with ABFs from other plants. (biomedcentral.com)
  • Provided herein are anti-angiogenic comprising the N-terminal end of endostatin, nucleic acids encoding the same, pharmaceutical preparations comprising an effective amount of the peptide and nucleic acids and use of the pharmaceuticals in treating or preventing diseases or conditions associated with undesirable angiogenesis. (justia.com)
  • Examples of 2-omics analyses include expression quantitative trait locus eQTL (Franke & Jansen, 2009) and methylation quantitative trait locus meQTL (Smith, Kilaru, Kocak, Almli, & Mercer, 2014) that, respectively, assess the influence of genetic and epigenetic markers on gene expression. (researchgate.net)
  • Deregulation of the MAPK signaling occurs under many pathological conditions including neurodegenerative disorders, metabolic syndromes and cancers. (mdpi.com)
  • Peptide nucleic acids (PNAs) are synthesized by attaching modified peptide backbones generally derived from repetitive N-2-aminoethyl glycine units in place of the regular phosphodiester backbone and represent synthetic impersonator of nucleic acids that offers an exciting research field due to their fascinating spectrum of biotechnological, diagnostic and potential therapeutic applications. (bvsalud.org)
  • Members of the institute have published in a wide range of peer-reviewed journals, including Nature, Molecular Cell, Angewandte Chemie, JACS, Science Advances, Proceedings of the National Academy of Sciences USA, Nucleic Acids Research, Chemical Science and many others. (le.ac.uk)
  • The prospect of gene therapy for inherited and acquired respiratory disease has energized the research community since the 1980s, with cystic fibrosis, as a monogenic disorder, driving early efforts to develop effective strategies. (bvsalud.org)
  • Recent high-impact research has shown the genomic/genetic differences between cancer and normal cells using methods such as next-generation sequencing [ 1 , 2 ]. (intechopen.com)
  • A cell-penetrant peptide blocking C9ORF72-repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins. (le.ac.uk)
  • Pseudoscientists cannot seem to grasp the fact that the amino acids that are put together to form proteins are nutrient-dependent amino acids. (scentoferos.com)
  • Data table showing topics related to specific cancers and associated disorders. (cancerindex.org)
  • Several non-infectious human diseases, such as autoimmune disorders, inflammatory bowel disease (IBD) and some gut-associated cancers, are related to the immunological imbalance and compositional perturbations of the gut microbiota, also known as dysbiosis. (deepdyve.com)
  • Plos Biology 2013 11: e1001635) and may play a role in cardiovascular disorders and cancers. (rochester.edu)
  • This mini-review focuses on covalently linked conjugates of PNA with cell-penetrating peptides, aminosugars, aminoglycoside antibiotics, and non-peptidic molecules that were tested, primarily as PNA carriers, in antibacterial and antiviral applications. (bvsalud.org)
  • METHODS: A set of antisense P-PNA conjugates with a bacterial penetration peptide were designed to inhibit the expression of gyrA and parC and were evaluated for their antibacterial activities. (bvsalud.org)
  • Recent studies have revealed an extensive superfamily of UDP-glucuronosyltransferases (UGTs), 2 previously termed glucuronyl transferases, which catalyze the conjugation of UDP-glucuronic acid with lipid-soluble substrates to form polar conjugates that are excreted in the urine and feces. (aspetjournals.org)
  • In response to DNA damage, a synthetic lethal relationship exists between the cell cycle checkpoint kinase MK2 and the tumor suppressor p53. (nature.com)
  • Here, we describe the concept of augmented synthetic lethality (ASL): depletion of a third gene product enhances a pre-existing synthetic lethal combination. (nature.com)
  • Delivery of siRNA-peptide nanoplexes co-targeting MK2 and XPA to pre-existing p53-deficient tumors in a highly aggressive, immunocompetent mouse model of lung adenocarcinoma improves long-term survival and cisplatin response beyond those of the synthetic lethal p53 mutant/MK2 combination alone. (nature.com)
  • The concept has now been extended to embrace synthetic lethal drug sensitivity, such as that observed with PARP inhibitors in combination with DNA-damaging chemotherapy in a variety of BRCA defective tumors 10 . (nature.com)
  • We employ various approaches and methods of biochemistry and biophysics, molecular and cellular biology, and genetic and surgical mouse models, to dissect the convergent and divergent regulatory pathways. (rochester.edu)
  • Several annexes present information on genetic toxicology experiments, examples of validated in vitro assays, and a description of new in vitro methods that are evolving in toxicology. (nationalacademies.org)
  • Next-generation sequencing (NGS) technologies are now routinely applied to evaluate the role of low-frequency and rare genetic variants in Mendelian and complex diseases [1] - [3] . (prolekarniky.cz)
  • A recent study of autosomal recessive disease variants in a genetic isolate finds surprisingly high carrier frequencies for many of these variants [8] . (prolekarniky.cz)
  • Based on these findings, the disclosure features anti-angiogenic peptides comprising at least about 12 amino acids of SEQ ID Nos. (justia.com)
  • siRNA-based gene therapy can downregulate, enhance, or correct gene expression by introducing some nucleic acid into patient tissues. (bvsalud.org)
  • Despite the initial enthusiasm and multiple clinical trials, there is still no FDA-approved gene therapy for CF. This review details the history of CF gene therapy and outlines the progress toward the development of a genetic treatment for all people with CF. The cover image is a 3D rendering of a newborn pig lung CT image (image reconstructed by Carley Stewart). (mdpi.com)
  • These evidences are often based on the derivation of standard measures of association, linking (epi-)genetic markers to gene expression combined with gene expression analysis (Wagner, Busche, Ge, Kwan, & Pastinen, 2014). (researchgate.net)
  • Elucidating the function of the mutated gene, ALMS1 , is critical for the development of specific treatments and may uncover pathways relevant to a range of other disorders including common forms of obesity and type 2 diabetes. (springer.com)
  • These new models, which we term Multi-Functional Human Tissue Genetics, allow up to 10 alleles or more to be altered simultaneously, permitting genetic experiments with an unprecedented degree of rapidity and complexity. (stanford.edu)
  • This review examines both genetic polymorphisms in these immunoregulatory molecules and their relationship to immunotherapeutic outcome, especially against carcinoma. (eurekaselect.com)
  • We provide structural, biochemical and genetic evidence that an unfolded linker region of the Epl1 subunit is critical for this long-range activity. (nature.com)
  • RNA is the only molecule known to recapitulate all biochemical functions of life: definition, control, and transmission of genetic information, creation of defined three-dimensional structures, enzymatic activities, and storage of energy. (rodefshalom613.org)
  • Multiple carboxylase deficiency (MCD) is one of many metabolic disorders that occur in the absence of the coenzyme activity of biotin. (medscape.com)
  • He received his Ph.D. degree in the laboratory of Dr. En-Duo Wang in Biochemistry and Molecular Biology from Shanghai Institute of Biochemistry and Cell Biology of Chinese Academy of Science in 2008, where he studied the structural and functional interplay of transfer RNA (tRNA) and tRNA synthetase in bacteria, yeast and human. (rochester.edu)
  • In each cell of a living organism, DNA is the molecule that contains the genetic information of the organism. (rodefshalom613.org)
  • The immune system is trained to ensure a fine balance between the response given to commensal gut microbiota (i.e. homeostatic and healthy situations) and pathogens (i.e. gastrointestinal disorders) [8]. (deepdyve.com)
  • Given long-range effects of genetic variation, this assumption may not be right unless documented experimentally. (tripod.com)
  • Recent large-scale next-generation sequencing efforts have provided unprecedented data on genetic variation in human. (prolekarniky.cz)
  • Although the precise cause remains unknown, profiling studies of the gut microbiome associate the pathogenesis of IBD, a chronic and relapsing inflammatory disorder of the gut, with the under-representation of certain species in the faecal microbiota [16-19]. (deepdyve.com)
  • A sophisticated high-order framework nucleic acid (FNA) was engineered for the targeted delivery and responsive release of environment tolerant antisense peptide nucleic acids (asPNAs). (bvsalud.org)
  • Peptide nucleic acid (PNA) is a nucleic acid mimic with high specificity and binding affinity to natural DNA or RNA, as well as resistance to enzymatic degradation. (bvsalud.org)
  • OBJECTIVES: To examine the bactericidal effect of antisense peptide-peptide nucleic acids (P-PNAs) that can block the expression of DNA gyrase or topoisomerase IV in FQ-resistant Escherichia coli (FRE). (bvsalud.org)
  • Biotin's role in chromatin nucleic structure is based on its modulating effect on histones, the building blocks for chromatin. (medscape.com)
  • Consideration of the genetic identity of both the Dengue and Zika flaviviruses as well as the cross-reactivity of relevant T cells along with the actions of CD4+ cytotoxic cells in these infections are also presented. (frontiersin.org)
  • However, much of the genetic contribution to breast cancer risk remains unknown. (cancerindex.org)
  • The UGT content of cells and tissues is a major determinant of our response to those chemicals that are primarily eliminated by conjugation with glucuronic acid. (aspetjournals.org)
  • when we eat food nucleic acids can get into our cells. (scentoferos.com)
  • This experiment aimed to investigate the effects of cadmium (Cd) on Semi-lethal concentration (LC 50 ), histological characteristics and liver DNA damage of juvenile largemouth bass. (researchsquare.com)
  • When a genetic association is found, it is very tempting to speculate that the associated variant may be a good biomarker (usually because of the small P value accompanying the association). (tripod.com)