Search Results - "Smith, C.I. Edvard"

Therapeutic Oligonucleotides: State of the Art by Smith, C.I. Edvard, Zain, Rula

“…Oligonucleotides (ONs) can interfere with biomolecules representing the entire extended central dogma. Antisense gapmer, steric block, splice-switching ONs,…”
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Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients by Tassone, Laura, PhD, Notarangelo, Lucia D., MD, Bonomi, Vanessa, PhD, Savoldi, Gianfranco, PhD, Sensi, Alberto, MD, Soresina, Annarosa, MD, Smith, C.I. Edvard, MD, Porta, Fulvio, MD, Plebani, Alessandro, MD, Notarangelo, Luigi D., MD, Badolato, Raffaele, MD, PhD

“…Clinical and genetic diagnoses of WHIM syndrome were delayed in the majority of patients, and the diagnosis was missed in 1 patient (P8) who died at 54 years…”
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Immunodeficiency syndromes differentially impact the functional profile of SARS-CoV-2-specific T cells elicited by mRNA vaccination by Gao, Yu, Cai, Curtis, Wullimann, David, Niessl, Julia, Rivera-Ballesteros, Olga, Chen, Puran, Lange, Joshua, Cuapio, Angelica, Blennow, Ola, Hansson, Lotta, Mielke, Stephan, Nowak, Piotr, Vesterbacka, Jan, Akber, Mira, Perez-Potti, Andre, Sekine, Takuya, Müller, Thomas R., Boulouis, Caroline, Kammann, Tobias, Parrot, Tiphaine, Muvva, Jagadeeswara Rao, Sobkowiak, Michal, Healy, Katie, Bogdanovic, Gordana, Muschiol, Sandra, Söderdahl, Gunnar, Österborg, Anders, Hellgren, Fredrika, Grifoni, Alba, Weiskopf, Daniela, Sette, Alessandro, Loré, Karin, Sällberg Chen, Margaret, Ljungman, Per, Sandberg, Johan K., Smith, C.I. Edvard, Bergman, Peter, Ljunggren, Hans-Gustaf, Aleman, Soo, Buggert, Marcus

“…Many immunocompromised patients mount suboptimal humoral immunity after SARS-CoV-2 mRNA vaccination. Here, we assessed the single-cell profile of…”
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Hypomorphic homozygous mutations in phosphoglucomutase 3 ( PGM3 ) impair immunity and increase serum IgE levels by Sassi, Atfa, PhD, Lazaroski, Sandra, PhD, Wu, Gang, MSc, Haslam, Stuart M., PhD, Fliegauf, Manfred, PhD, Mellouli, Fethi, MD, Patiroglu, Turkan, MD, Unal, Ekrem, MD, Ozdemir, Mehmet Akif, MD, Jouhadi, Zineb, MD, Khadir, Khadija, MD, Ben-Khemis, Leila, MSc, Ben-Ali, Meriem, PhD, Ben-Mustapha, Imen, MD, Borchani, Lamia, PhD, Pfeifer, Dietmar, PhD, Jakob, Thilo, MD, Khemiri, Monia, MD, Asplund, A. Charlotta, BSc, Gustafsson, Manuela O., MSc, Lundin, Karin E., PhD, Falk-Sörqvist, Elin, MSc, Moens, Lotte N., PhD, Gungor, Hatice Eke, MD, Engelhardt, Karin R., PhD, Dziadzio, Magdalena, MD, PhD, Stauss, Hans, MD, PhD, Fleckenstein, Bernhard, MD, Meier, Rebecca, BSc, Prayitno, Khairunnadiya, MSc, Maul-Pavicic, Andrea, PhD, Schaffer, Sandra, Rakhmanov, Mirzokhid, PhD, Henneke, Philipp, MD, Kraus, Helene, MSc, Eibel, Hermann, PhD, Kölsch, Uwe, MD, Nadifi, Sellama, PhD, Nilsson, Mats, PhD, Bejaoui, Mohamed, MD, Schäffer, Alejandro A., PhD, Smith, C.I. Edvard, MD, PhD, Dell, Anne, PhD, Barbouche, Mohamed-Ridha, MD, PhD, Grimbacher, Bodo, MD

“…Background Recurrent bacterial and fungal infections, eczema, and increased serum IgE levels characterize patients with the hyper-IgE syndrome (HIES). Known…”
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BTKbase: the mutation database for X-linked agammaglobulinemia by Väliaho, Jouni, Smith, C.I. Edvard, Vihinen, Mauno

“…X‐linked agammaglobulinemia (XLA) is a hereditary immunodeficiency caused by mutations in the gene encoding Bruton tyrosine kinase (BTK). XLA patients have a…”
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CTG repeat-targeting oligonucleotides for down-regulating Huntingtin expression by Zaghloul, Eman M, Gissberg, Olof, Moreno, Pedro M D, Siggens, Lee, Hällbrink, Mattias, Jørgensen, Anna S, Ekwall, Karl, Zain, Rula, Wengel, Jesper, Lundin, Karin E, Smith, C I Edvard

“…Huntington's disease (HD) is a fatal, neurodegenerative disorder in which patients suffer from mobility, psychological and cognitive impairments. Existing…”
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Multi-level omics analysis in a murine model of dystrophin loss and therapeutic restoration by Roberts, Thomas C, Johansson, Henrik J, McClorey, Graham, Godfrey, Caroline, Blomberg, K Emelie M, Coursindel, Thibault, Gait, Michael J, Smith, C I Edvard, Lehtiö, Janne, El Andaloussi, Samir, Wood, Matthew J A

“…Duchenne muscular dystrophy (DMD) is a classical monogenic disorder, a model disease for genomic studies and a priority candidate for regenerative medicine and…”
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Oligonucleotide Binding to Non-B-DNA in MYC by Umek, Tea, Sollander, Karin, Bergquist, Helen, Wengel, Jesper, Lundin, Karin E, Smith, C I Edvard, Zain, Rula

“…, originally named c- , is an oncogene deregulated in many different forms of cancer. Translocation of the gene to an immunoglobulin gene leads to an…”
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Biological Activity and Biotechnological Aspects of Locked Nucleic Acids by Lundin, Karin E., Højland, Torben, Hansen, Bo R., Persson, Robert, Bramsen, Jesper B., Kjems, Jørgen, Koch, Troels, Wengel, Jesper, Smith, C.I. Edvard

“…Locked nucleic acid (LNA) is one of the most promising new nucleic acid analogues that has been produced under the past two decades. In this chapter, we have…”
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Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report by Lundin, Karin E, Wang, Qing, Hamasy, Abdulrahman, Marits, Per, Uzunel, Mehmet, Wirta, Valtteri, Wikström, Ann-Charlotte, Fasth, Anders, Ekwall, Olov, Smith, C I Edvard

“…A novel immunodeficiency, frequently accompanied by high serum-IgE, and caused by mutations in the PGM3 gene was described in 2014. To date there are no unique…”
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RNA therapeutics inactivate PCSK9 by inducing a unique intracellular retention form by Rocha, Cristina S.J, Wiklander, Oscar P.B, Larsson, Lilian, Moreno, Pedro M.D, Parini, Paolo, Lundin, Karin E, Smith, C.I. Edvard

“…Abstract Hypercholesterolemia is a medical condition often characterized by high levels of low-density lipoprotein cholesterol (LDL-C) in the blood. Despite…”
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The Tec family of cytoplasmic tyrosine kinases: mammalian Btk, Bmx, Itk, Tec, Txk and homologs in other species by Smith, C.I. Edvard, Islam, Tahmina C., Mattsson, Pekka T., Mohamed, Abdalla J., Nore, Beston F., Vihinen, Mauno

“…Cytoplasmic protein‐tyrosine kinases (PTKs) are enzymes involved in transducing a vast number of signals in metazoans. The importance of the Tec family of…”
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Four Novel Splice-Switch Reporter Cell Lines: Distinct Impact of Oligonucleotide Chemistry and Delivery Vector on Biological Activity by Rocha, Cristina S J, Lundin, Karin E, Behlke, Mark A, Zain, Rula, El Andaloussi, Samir, Smith, C I Edvard

“…New advances in oligonucleotide (ON) chemistry emerge continuously, and over the last few years, several aspects of ON delivery have been improved. However,…”
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Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6 by Järviaho, Tekla, Bang, Benedicte, Zachariadis, Vasilios, Taylan, Fulya, Moilanen, Jukka, Möttönen, Merja, Smith, C.I. Edvard, Harila-Saari, Arja, Niinimäki, Riitta, Nordgren, Ann

“…Pathogenic germline variants in ETV6 have been associated with familial predisposition to thrombocytopenia and hematological malignancies, predominantly…”
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Wnt/β-Catenin Stimulation and Laminins Support Cardiovascular Cell Progenitor Expansion from Human Fetal Cardiac Mesenchymal Stromal Cells by Månsson-Broberg, Agneta, Rodin, Sergey, Bulatovic, Ivana, Ibarra, Cristián, Löfling, Marie, Genead, Rami, Wärdell, Eva, Felldin, Ulrika, Granath, Carl, Alici, Evren, Le Blanc, Katarina, Smith, C.I. Edvard, Salašová, Alena, Westgren, Magnus, Sundström, Erik, Uhlén, Per, Arenas, Ernest, Sylvén, Christer, Tryggvason, Karl, Corbascio, Matthias, Simonson, Oscar E., Österholm, Cecilia, Grinnemo, Karl-Henrik

“…The intrinsic regenerative capacity of human fetal cardiac mesenchymal stromal cells (MSCs) has not been fully characterized. Here we demonstrate that we can…”
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synthetic snRNA m₃G-CAP enhances nuclear delivery of exogenous proteins and nucleic acids by Moreno, Pedro M.D, Wenska, Malgorzata, Lundin, Karin E, Wrange, Örjan, Strömberg, Roger, Smith, C.I. Edvard

“…Accessing the nucleus through the surrounding membrane poses one of the major obstacles for therapeutic molecules large enough to be excluded due to nuclear…”
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Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammaglobulinemia: A retrospective survey of 31 patients by Quartier, Pierre, Debré, Marianne, De Blic, Jacques, de Sauverzac, Rodolphe, Sayegh, Natacha, Jabado, Nada, Haddad, Elie, Blanche, Stéphane, Casanova, Jean-Laurent, Edvard Smith, C.I., Le Deist, Françoise, de Saint Basile, Geneviève, Fischer, Alain

“…Objective: To evaluate the outcome of children who received prolonged intravenous immunoglobulin (IVIg) replacement therapy early in life for X-linked…”
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Diaminopropionic acid lipopeptides: Characterization studies of polyplexes aimed at pDNA delivery by Viola, Joana R., Strömberg, Roger, Simonson, Oscar E., Andaloussi, Samir EL, Edvard Smith, C.I., Murtola, Merita

“…Here we report a novel class of peptides—d-diaminopropionic acids (Dap)—for gene delivery. These peptides have attractive properties for gene delivery, and the…”
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mRNA and microRNA transcriptomics analyses in a murine model of dystrophin loss and therapeutic restoration by Roberts, Thomas C., Blomberg, K. Emelie M., Smith, C.I. Edvard, EL Andaloussi, Samir, Wood, Matthew J.A.

“…Duchenne muscular dystrophy (DMD) is a pediatric, X-linked, progressive muscle-wasting disorder caused by loss of function mutations affecting the gene…”
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Phylogeny of Tec Family Kinases: Identification of a Premetazoan Origin of Btk, Bmx, Itk, Tec, Txk, and the Btk Regulator SH3BP5 by Ortutay, Csaba, Nore, Beston F., Vihinen, Mauno, Edvard Smith, C.I.

“…It is generally considered mammals and birds have five Tec family kinases (TFKs): Btk, Bmx (also known as Etk), Itk, Tec, and Txk (also known as Rlk). Here, we…”
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