Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome

Autor: MC Valero, A Peña, María Luisa Martínez-Frías, Belén Prados, O. Fano, RP Cotarelo, Jesús Cruces, L Rodríguez, JJ Marco

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname

Instituto de Salud Carlos III (España)
et al.
Walker-Warburg syndrome (WWS) is an autosomal recessive disorder characterized by congenital muscular dystrophy, brain malformations and structural abnormalities of the eye. We have studied two

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e1b72e7895eae11355afc58b73276a2
http://hdl.handle.net/10261/81951

Alternative splicing dysregulation across tissue and therapeutic approaches in a mouse model of myotonic dystrophy type 1.

Autor: Hicks SM; Department of Biological Sciences, College of Arts and Sciences, University at Albany, SUNY, Albany, NY 12222, USA.; The RNA Institute, College of Arts and Sciences, University at Albany, SUNY, Albany, NY 12222, USA., Frias JA; Department of Biological Sciences, College of Arts and Sciences, University at Albany, SUNY, Albany, NY 12222, USA.; The RNA Institute, College of Arts and Sciences, University at Albany, SUNY, Albany, NY 12222, USA., Mishra SK; The RNA Institute, College of Arts and Sciences, University at Albany, SUNY, Albany, NY 12222, USA., Scotti M; Center for NeuroGenetics and Department of Molecular Genetics & Microbiology, College of Medicine, University of Florida, Gainesville, FL 32603, USA., Muscato DR; Center for NeuroGenetics and Department of Molecular Genetics & Microbiology, College of Medicine, University of Florida, Gainesville, FL 32603, USA., Valero MC; Center for NeuroGenetics and Department of Molecular Genetics & Microbiology, College of Medicine, University of Florida, Gainesville, FL 32603, USA., Adams LM; Center for NeuroGenetics and Department of Molecular Genetics & Microbiology, College of Medicine, University of Florida, Gainesville, FL 32603, USA., Cleary JD; The RNA Institute, College of Arts and Sciences, University at Albany, SUNY, Albany, NY 12222, USA., Nakamori M; Department of Neurology, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan., Wang E; Center for NeuroGenetics and Department of Molecular Genetics & Microbiology, College of Medicine, University of Florida, Gainesville, FL 32603, USA., Berglund JA; Department of Biological Sciences, College of Arts and Sciences, University at Albany, SUNY, Albany, NY 12222, USA.; The RNA Institute, College of Arts and Sciences, University at Albany, SUNY, Albany, NY 12222, USA.

Publikováno v: Molecular therapy. Nucleic acids [Mol Ther Nucleic Acids] 2024 Sep 13; Vol. 35 (4), pp. 102338. Date of Electronic Publication: 2024 Sep 13 (Print Publication: 2024).

Myospreader improves gene editing in skeletal muscle by myonuclear propagation.

Autor: Poukalov KK; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL 32610.; Center for NeuroGenetics, University of Florida, Gainesville, FL 32610.; Genetics Institute, University of Florida, Gainesville, FL 32610., Valero MC; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL 32610.; Center for NeuroGenetics, University of Florida, Gainesville, FL 32610.; Genetics Institute, University of Florida, Gainesville, FL 32610., Muscato DR; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL 32610.; Center for NeuroGenetics, University of Florida, Gainesville, FL 32610.; Genetics Institute, University of Florida, Gainesville, FL 32610., Adams LM; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL 32610.; Center for NeuroGenetics, University of Florida, Gainesville, FL 32610.; Genetics Institute, University of Florida, Gainesville, FL 32610., Chun H; Department of Pharmacology, University of Florida, Gainesville, FL 32610.; Myology Institute, University of Florida, Gainesville, FL 32610., Lee YI; Department of Pharmacology, University of Florida, Gainesville, FL 32610.; Myology Institute, University of Florida, Gainesville, FL 32610., Andrade NS; Department of Psychiatry and Behavioral Sciences, University of Miami, Miami, FL 33136., Zeier Z; Department of Psychiatry and Behavioral Sciences, University of Miami, Miami, FL 33136., Sweeney HL; Department of Pharmacology, University of Florida, Gainesville, FL 32610.; Myology Institute, University of Florida, Gainesville, FL 32610., Wang ET; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL 32610.; Center for NeuroGenetics, University of Florida, Gainesville, FL 32610.; Genetics Institute, University of Florida, Gainesville, FL 32610.; Myology Institute, University of Florida, Gainesville, FL 32610.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 May 07; Vol. 121 (19), pp. e2321438121. Date of Electronic Publication: 2024 Apr 30.

Dermatological adverse reactions after vaccination with BNT162b2 in a cohort of healthcare workers.

Autor: Ruiz-Villaverde R; Department of Dermatology, Hospital Universitario San Cecilio, Spain Biohealth Research Institute in Granada (ibs.GRANADA), Granada, Spain., Rivera-Izquierdo M; Department of Public Health, Hospital Universitario San Cecilio, Spain Biohealth Research Institute in Granada (ibs.GRANADA), Granada, Spain., Gil-Villalba A; Department of Dermatology, Hospital Universitario San Cecilio, Spain Biohealth Research Institute in Granada (ibs.GRANADA), Granada, Spain., Pegalajar-García MD; Department of Dermatology, Hospital Universitario San Cecilio, Spain Biohealth Research Institute in Granada (ibs.GRANADA), Granada, Spain., Pérez-Rojas J; Department of Public Health, Hospital Universitario San Cecilio, Spain Biohealth Research Institute in Granada (ibs.GRANADA), Granada, Spain., Soler-Iborte E; Department of Public Health, Hospital Universitario San Cecilio, Spain Biohealth Research Institute in Granada (ibs.GRANADA), Granada, Spain., Valero-Ubierna MC; Department of Public Health, Hospital Universitario San Cecilio, Spain Biohealth Research Institute in Granada (ibs.GRANADA), Granada, Spain.

Publikováno v: International journal of dermatology [Int J Dermatol] 2022 Oct; Vol. 61 (10), pp. 1289-1293. Date of Electronic Publication: 2022 Jun 30.

Laminin-111 Improves the Anabolic Response to Mechanical Load in Aged Skeletal Muscle.

Autor: Garg K; Beckman Institute for Advanced Science and Technology, University of Illinois at Urbana-Champaign., Mahmassani ZS; Beckman Institute for Advanced Science and Technology, University of Illinois at Urbana-Champaign.; Department of Kinesiology and Community Health, University of Illinois at Urbana-Champaign., Dvoretskiy S; Beckman Institute for Advanced Science and Technology, University of Illinois at Urbana-Champaign.; Department of Kinesiology and Community Health, University of Illinois at Urbana-Champaign., Valero MC; Beckman Institute for Advanced Science and Technology, University of Illinois at Urbana-Champaign.; Institute for Genomic Biology, University of Illinois at Urbana-Champaign., Huntsman HD; Beckman Institute for Advanced Science and Technology, University of Illinois at Urbana-Champaign.; Department of Kinesiology and Community Health, University of Illinois at Urbana-Champaign., Lapp S; Beckman Institute for Advanced Science and Technology, University of Illinois at Urbana-Champaign.; Department of Kinesiology and Community Health, University of Illinois at Urbana-Champaign., Wu YF; Beckman Institute for Advanced Science and Technology, University of Illinois at Urbana-Champaign.; Department of Kinesiology and Community Health, University of Illinois at Urbana-Champaign., Hauschka SD; Department of Biochemistry, University of Washington, Seattle., Burkin DJ; Department of Pharmacology, University of Nevada School of Medicine, Reno., Boppart MD; Beckman Institute for Advanced Science and Technology, University of Illinois at Urbana-Champaign.; Department of Kinesiology and Community Health, University of Illinois at Urbana-Champaign.; Institute for Genomic Biology, University of Illinois at Urbana-Champaign.

Publikováno v: The journals of gerontology. Series A, Biological sciences and medical sciences [J Gerontol A Biol Sci Med Sci] 2021 Mar 31; Vol. 76 (4), pp. 586-590.