Results 271 to 280 of about 765,071 (332)

Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of  -thalassemia

, 2008
Silvia Galbiati, Barbara Foglieni, M. Travi, Cristina Curcio, Gabriella Restagno, Luca Sbaiz, Marek Šmíd, Federica Pasi, A. Ferrari, Maurizio Ferrari, Laura Cremonesi   +10 more
openalex   +2 more sources

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Development, validation, and preliminary phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3

Animal Models and Experimental Medicine, EarlyView.
Deleting Col6a3 exon 3 by CRISPR in mice results in centralized nuclei consistent with a myopathy phenotype mimicking collagen VI‐associated human disease Abstract Background Most mutations in the COL6A3 gene lead to collagen VI‐related myopathies. This is due to a reduced expression or mislocalization of the COL6A3 protein.
Michel ElChoueiry, Harsimran Sidhu, Maude Lévesque, Dominique Lévesque, Jean‐François Jacques, Otman Sarrhini, Jean‐François Beaudoin, Molly Caron, Brenda Gaudette, Roger Lecomte, Xavier Roucou, François‐Michel Boisvert, Jean‐Philippe Brosseau   +12 more
wiley   +1 more source

Inhibiting Gene Expression with Peptide Nucleic Acid (PNA)−Peptide Conjugates That Target Chromosomal DNA

, 2007
Jiaxin Hu, David R. Corey
openalex   +1 more source

Advances in miRNA research: Unraveling the complexities of gene regulation

Animal Models and Experimental Medicine, EarlyView.
Overview of miRNA‐mediated regulation in key biological processes. This illustration offers a comprehensive view of the diverse functions that microRNAs perform in governing various biological processes, highlighting their profound significance within the complex web of gene expression and cellular function.
Jiawei Zheng, Guoqing Zhang, Linzhu Ren
wiley   +1 more source

Detection of miR-155 Using Peptide Nucleic Acid at Physiological-like Conditions by Surface Plasmon Resonance and Bio-Field Effect Transistor. [PDF]

Biosensors (Basel)
Lavecchia di Tocco F, Botti V, Cannistraro S, Bizzarri AR.   +3 more
europepmc   +1 more source

Papain-Mediated Conjugation of Peptide Nucleic Acids to Delivery Peptides: A Density Functional Theory/Molecular Mechanics Metadynamics Study in Aqueous and Organic Solvent

Ricardo González, Alexandra T. P. Carvalho   +1 more
openalex   +1 more source

Metal-containing peptide nucleic acid conjugates

, 2011
Gilles Gasser, Anna M. Sosniak, Nils Metzler‐Nolte   +2 more
openalex   +1 more source

Targeted Proteomics upon Treatment with Tofersen Identifies Novel Response Markers for Superoxide Dismutase 1‐Linked Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Tofersen is the first effective and approved therapy for superoxide dismutase 1 (SOD1)‐associated amyotrophic lateral sclerosis (ALS [SOD1‐ALS]). Following treatment with tofersen, neurofilament levels in patients' cerebrospinal fluid (CSF) and serum seem to respond earlier than clinical parameters.
Christina Steffke, Karthik Baskar, Franziska Bachhuber, Maximilian Wiesenfarth, Johannes Dorst, Joachim Schuster, Florian Schöberl, Peter Reilich, Martin Regensburger, Alexander German, René Günther, Maximilian Vidovic, Susanne Petri, Thomas Meyer, Tim Hagenacker, Julian Grosskreutz, Ute Weyen, Patrick Weydt, Thomas Haarmeier, Paul Lingor, Joachim Wolf, Andreas Hermann, Johannes Prudlo, Kornelia Günther, Antje Knehr, Zeynep Elmas, Zeljko Uzelac, Simon Witzel, Wolfgang Philipp Ruf, Axel Freischmidt, Ritchie Ho, Albert C. Ludolph, Jochen H. Weishaupt, Hayrettin Tumani, Patrick Oeckl, David Brenner, Alberto Catanese   +36 more
wiley   +1 more source

Morphology and Applications of Self-Assembled Peptide Nucleic Acids

Luca Domenico D’Andrea, Alessandra Romanelli   +1 more
openalex   +1 more source