Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.

Autor: Weihl CC; Department of Neurology, Washington University School of Medicine, Saint Louis, USA. weihlc@wustl.edu., Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Bengoechea R; Department of Neurology, Washington University School of Medicine, Saint Louis, USA., Duff J; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Charlton R; Muscle Immunoanalysis Unit, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Garcia SK; ALS and Neuromuscular Unit, Department of Neurology, Hospital Universitario de Basurto, Bilbao, Vizcaya, Spain., Domínguez-González C; Neuromuscular Unit, Department of Neurology, imas12 Research Institute, Hospital 12 de Octubre, Madrid, Spain., Alsaman A; Pediatric Neurology Department, National Neuroscience Institute, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Hernández-Laín A; Neuropathology Unit, Hospital 12 de Octubre Research Institute (imas12), Madrid, Spain., Franco LV; ALS and Neuromuscular Unit, Department of Neurology, Hospital Universitario de Basurto, Bilbao, Vizcaya, Spain., Sanchez MEP; ALS and Neuromuscular Unit, Department of Pneumology, Hospital Universitario de Basurto, Bilbao, Vizcaya, Spain., Beecroft SJ; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Goullee H; Pawsey Supercomputing Research Centre, Commonwealth Scientific and Industrial Research Organisation, Kensington, WA, Australia., Daw J; Department of Neurology, Washington University School of Medicine, Saint Louis, USA., Bhadra A; Department of Cell Biology and Physiology, Washington University School of Medicine, Saint Louis, USA., True H; Department of Cell Biology and Physiology, Washington University School of Medicine, Saint Louis, USA., Inoue M; Department of Neurology, Washington University School of Medicine, Saint Louis, USA., Findlay AR; Department of Neurology, Washington University School of Medicine, Saint Louis, USA., Laing N; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Olivé M; Neuromuscular Unit, Department of Neurology, Hospital de La Santa Creu I San Pau, Barcelona, Spain.; Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain., Ravenscroft G; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

Publikováno v: Acta neuropathologica [Acta Neuropathol] 2023 Jan; Vol. 145 (1), pp. 127-143. Date of Electronic Publication: 2022 Oct 20.

COVID-19 in the Perioperative Period of Cardiovascular Surgery: the Brazilian Experience.

Autor: Gomes WJ; Cardiology and Cardiovascular Surgery Disciplines, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil.; Cardiology Postgraduate Program, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Rocco I; Cardiology and Cardiovascular Surgery Disciplines, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil.; Cardiology Postgraduate Program, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Pimentel WS; Cardiology and Cardiovascular Surgery Disciplines, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Pinheiro AHB; Cardiology and Cardiovascular Surgery Disciplines, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Souza PMS; Cardiology and Cardiovascular Surgery Disciplines, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Costa LAA; Cardiology and Cardiovascular Surgery Disciplines, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Teixeira MMP; Cardiology and Cardiovascular Surgery Disciplines, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Ohashi LP; Cardiology and Cardiovascular Surgery Disciplines, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Bublitz C; Cardiology and Cardiovascular Surgery Disciplines, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Begot I; Cardiology and Cardiovascular Surgery Disciplines, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Moreira RSL; Escola Paulista de Enfermagem, Universidade Federal de São Paulo, São Paulo, Brazil. 4Sociedade Brasileira de Cirurgia Cardiovascular, São Paulo, São Paulo, Brazil., Hossne NA Jr; Cardiology and Cardiovascular Surgery Disciplines, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Vargas GF; Cardiology and Cardiovascular Surgery Disciplines, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Branco JNR; Cardiology and Cardiovascular Surgery Disciplines, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Teles CA; Cardiology and Cardiovascular Surgery Disciplines, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Medeiros EAS; Cardiology and Cardiovascular Surgery Disciplines, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Sáfadi C; Sociedade Brasileira de Cirurgia Cardiovascular, São Paulo, São Paulo, Brazil., Rampinelli A; Instituto de Cardiologia de Santa Catarina, Florianópolis, Santa Catarina, Brazil., Moratelli L Neto; Instituto de Cardiologia de Santa Catarina, Florianópolis, Santa Catarina, Brazil., Rosado AR; Instituto de Cardiologia de Santa Catarina, Florianópolis, Santa Catarina, Brazil., Mesacasa FK; Instituto de Cardiologia de Santa Catarina, Florianópolis, Santa Catarina, Brazil., Capriata IE; Instituto de Cardiologia de Santa Catarina, Florianópolis, Santa Catarina, Brazil., Segalote RC; Instituto Nacional de Cardiologia, Rio de Janeiro, Rio de Janeiro, Brazil., Palmieri DLDRV; Instituto Nacional de Cardiologia, Rio de Janeiro, Rio de Janeiro, Brazil., Jardim ACM; Instituto Nacional de Cardiologia, Rio de Janeiro, Rio de Janeiro, Brazil., Vianna DS; Instituto Nacional de Cardiologia, Rio de Janeiro, Rio de Janeiro, Brazil., Coutinho JHSA; Hospital Universitário Pedro Ernesto, Rio de Janeiro, Rio de Janeiro, Brazil., Jazbik JC; Hospital Universitário Pedro Ernesto, Rio de Janeiro, Rio de Janeiro, Brazil., Coutinho HMDR; Hospital Universitário Pedro Ernesto, Rio de Janeiro, Rio de Janeiro, Brazil., Kikuta G; Hospital Universitário Pedro Ernesto, Rio de Janeiro, Rio de Janeiro, Brazil., Almeida ZSM; Hospital Universitário Pedro Ernesto, Rio de Janeiro, Rio de Janeiro, Brazil., Feguri GR; Hospital Geral Filantrópico Universitário de Cuiabá, Cuiabá, Mato Grosso, Brazil., Lima PRL; Hospital Geral Filantrópico Universitário de Cuiabá, Cuiabá, Mato Grosso, Brazil., Franco AC; Hospital Geral Filantrópico Universitário de Cuiabá, Cuiabá, Mato Grosso, Brazil., Borges DC; Hospital Geral Filantrópico Universitário de Cuiabá, Cuiabá, Mato Grosso, Brazil., Cruz FRH; Hospital Geral Filantrópico Universitário de Cuiabá, Cuiabá, Mato Grosso, Brazil., Croti UA; Pediatric Cardiology and Cardiovascular Surgery Service at Hospital da Criança e Maternidade de São José do Rio Preto, São José do Rio Preto, São Paulo, Brazil., Borim BC; Pediatric Cardiology and Cardiovascular Surgery Service at Hospital da Criança e Maternidade de São José do Rio Preto, São José do Rio Preto, São Paulo, Brazil., Marchi CH; Pediatric Cardiology and Cardiovascular Surgery Service at Hospital da Criança e Maternidade de São José do Rio Preto, São José do Rio Preto, São Paulo, Brazil., Goraieb L; Pediatric Cardiology and Cardiovascular Surgery Service at Hospital da Criança e Maternidade de São José do Rio Preto, São José do Rio Preto, São Paulo, Brazil., Postigo KBS; Pediatric Cardiology and Cardiovascular Surgery Service at Hospital da Criança e Maternidade de São José do Rio Preto, São José do Rio Preto, São Paulo, Brazil., Jucá FG; Hospital de Messejana Dr. Carlos Alberto Studart Gomes, Fortaleza, Ceará, Brazil., Oliveira FRA; Hospital de Messejana Dr. Carlos Alberto Studart Gomes, Fortaleza, Ceará, Brazil., Souza RB; Hospital de Messejana Dr. Carlos Alberto Studart Gomes, Fortaleza, Ceará, Brazil., Zilli AC; Hospital de Caridade São Vicente de Paulo, Jundiaí, São Paulo, Brazil., Mas RGS; Hospital de Caridade São Vicente de Paulo, Jundiaí, São Paulo, Brazil., Bettiati LC Junior; Hospital de Caridade São Vicente de Paulo, Jundiaí, São Paulo, Brazil., Tranchesi R; Hospital de Caridade São Vicente de Paulo, Jundiaí, São Paulo, Brazil., Bertini A Jr; Hospital Geral de Pirajussara, Taboão da Serra, São Paulo, Brazil., Franco LV; Hospital Geral de Pirajussara, Taboão da Serra, São Paulo, Brazil., Fernandes P; Hospital Geral de Pirajussara, Taboão da Serra, São Paulo, Brazil., Oliveira F; Hospital Geral de Pirajussara, Taboão da Serra, São Paulo, Brazil., Moraes R Jr; Hospital Geral de Pirajussara, Taboão da Serra, São Paulo, Brazil., Araújo TCVN; Hospital Universitário Nova Esperança, João Pessoa, Paraíba, Brazil., Braga OP; Hospital Universitário Nova Esperança, João Pessoa, Paraíba, Brazil., Pedrosa AC Sobrinho; Hospital Universitário Nova Esperança, João Pessoa, Paraíba, Brazil., Teixeira RTB; Hospital Universitário Nova Esperança, João Pessoa, Paraíba, Brazil., Camboim ILL; Hospital Universitário Nova Esperança, João Pessoa, Paraíba, Brazil., Gomes EN; Hospital Regional de Sorocaba Dr. Adib Domingos Jatene, Sorocaba, São Paulo, Brazil., Reis PH; Hospital Regional de Sorocaba Dr. Adib Domingos Jatene, Sorocaba, São Paulo, Brazil., Garcia LP; Hospital Regional de Sorocaba Dr. Adib Domingos Jatene, Sorocaba, São Paulo, Brazil., Scorsioni NHG; Hospital Regional de Sorocaba Dr. Adib Domingos Jatene, Sorocaba, São Paulo, Brazil., Lago R; Hospital Regional de Sorocaba Dr. Adib Domingos Jatene, Sorocaba, São Paulo, Brazil., Guizilini S; Cardiology and Cardiovascular Surgery Disciplines, Hospital São Paulo, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil.; Cardiology Postgraduate Program, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil.

Publikováno v: Brazilian journal of cardiovascular surgery [Braz J Cardiovasc Surg] 2021 Dec 03; Vol. 36 (6), pp. 725-735. Date of Electronic Publication: 2021 Dec 03.

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O-GlcNAcylation of circadian clock protein Bmal1 impairs cognitive function in diabetic mice.

Autor: Hui Y; Department of Endocrinology and Metabolism, The Second Affiliated Hospital of Guilin Medical University, 541199, Guilin, Guangxi, P. R. China.; Guangxi Clinical Research Center for Diabetes and Metabolic Diseases, The Second Affiliated Hospital of Guilin Medical University, 541199, Guilin, Guangxi, P. R. China.; Guangxi Key Laboratory of Diabetic Systems Medicine, Guilin Medical University, 541199, Guilin, Guangxi, P. R. China., Zhong Y; Department of Endocrinology and Metabolism, The Second Affiliated Hospital of Guilin Medical University, 541199, Guilin, Guangxi, P. R. China.; Guangxi Key Laboratory of Diabetic Systems Medicine, Guilin Medical University, 541199, Guilin, Guangxi, P. R. China.; Guangxi Key Laboratory of Brain and Cognitive Neuroscience, Guilin Medical University, 541199, Guilin, Guangxi, P. R. China., Kuang L; Department of Endocrinology and Metabolism, The Second Affiliated Hospital of Guilin Medical University, 541199, Guilin, Guangxi, P. R. China.; Guangxi Key Laboratory of Brain and Cognitive Neuroscience, Guilin Medical University, 541199, Guilin, Guangxi, P. R. China.; Guangxi Key Laboratory of Metabolic Reprogramming and Intelligent Medical Engineering for Chronic Diseases, The Second Affiliated Hospital of Guilin Medical University, 541199, Guilin, Guangxi, P. R. China., Xu J; Department of Endocrinology and Metabolism, The Second Affiliated Hospital of Guilin Medical University, 541199, Guilin, Guangxi, P. R. China.; Guangxi Clinical Research Center for Diabetes and Metabolic Diseases, The Second Affiliated Hospital of Guilin Medical University, 541199, Guilin, Guangxi, P. R. China.; Guangxi Key Laboratory of Diabetic Systems Medicine, Guilin Medical University, 541199, Guilin, Guangxi, P. R. China., Hao Y; Department of Endocrinology and Metabolism, The Second Affiliated Hospital of Guilin Medical University, 541199, Guilin, Guangxi, P. R. China.; Guangxi Clinical Research Center for Diabetes and Metabolic Diseases, The Second Affiliated Hospital of Guilin Medical University, 541199, Guilin, Guangxi, P. R. China.; Guangxi Key Laboratory of Diabetic Systems Medicine, Guilin Medical University, 541199, Guilin, Guangxi, P. R. China., Cao J; Department of Endocrinology and Metabolism, The Second Affiliated Hospital of Guilin Medical University, 541199, Guilin, Guangxi, P. R. China.; Guangxi Clinical Research Center for Diabetes and Metabolic Diseases, The Second Affiliated Hospital of Guilin Medical University, 541199, Guilin, Guangxi, P. R. China.; Guangxi Key Laboratory of Brain and Cognitive Neuroscience, Guilin Medical University, 541199, Guilin, Guangxi, P. R. China., Zheng T; Department of Endocrinology and Metabolism, The Second Affiliated Hospital of Guilin Medical University, 541199, Guilin, Guangxi, P. R. China. ZhengTP@glmc.edu.cn.; Guangxi Clinical Research Center for Diabetes and Metabolic Diseases, The Second Affiliated Hospital of Guilin Medical University, 541199, Guilin, Guangxi, P. R. China. ZhengTP@glmc.edu.cn.; Guangxi Key Laboratory of Diabetic Systems Medicine, Guilin Medical University, 541199, Guilin, Guangxi, P. R. China. ZhengTP@glmc.edu.cn.; Guangxi Health Commission Key Laboratory of Glucose and Lipid Metabolism Disorders, The Second Affiliated Hospital of Guilin Medical University, 541199, Guilin, Guangxi, P. R. China. ZhengTP@glmc.edu.cn.

Publikováno v: The EMBO journal [EMBO J] 2024 Oct 07. Date of Electronic Publication: 2024 Oct 07.

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