Lactate dehydrogenase: sequence and analysis of its expression during the life cycle of Schistosoma mansoni

Autor: R Guerra-Sá, GR Franco, SDJ Pena, V Rodrigues

Publikováno v: Memorias do Instituto Oswaldo Cruz, Vol 93, Pp 205-206 (1998)

Externí odkaz: https://doaj.org/article/0802bd0ae0414499b1fff0122f635156

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.

Autor: Parthasarathy S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Ruggiero SM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Gelot A; AP-HP, Hôpital Armand-Trousseau, Service d'Anatomie Pathologique, 75012 Paris, France; INMED INSERM U 901 Parc Scientifique de Luminy, 13273 Marseille, France; Centre de Recherche Clinique ConCer-LD, Paris, France., Soardi FC; GENE - Núcleo de Genética Médica, Belo Horizonte, MG, Brazil; Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil; Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil., Ribeiro BFR; Secretaria Estadual de Saúde do Estado do Acre, Rio Branco, AC, Brazil., Pires DEV; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC 3004, Australia; Systems and Computational Biology, Bio21 Institute, University of Melbourne, 30 Flemington Rd, Parkville, VIC 3052, Australia; School of Computing and Information Systems, University of Melbourne, Melbourne, VIC 3053, Australia., Ascher DB; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC 3004, Australia; Systems and Computational Biology, Bio21 Institute, University of Melbourne, 30 Flemington Rd, Parkville, VIC 3052, Australia; School of Chemistry and Molecular Biology, University of Queensland, St Lucia, QLD 4072, Australia., Schmitt A; INSERM U 1016, Institut Cochin, Paris, France; CNRS UMR 8104, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France., Rambaud C; AP-HP, Hôpital Raymond-Poincaré, Laboratoire Anatomie Pathologique, Garches, France., Represa A; INMED, INSERM, Aix-Marseille Université, Campus de Luminy, 13009 Marseille, France., Xie HM; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Lusk L; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Wilmarth O; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., McDonnell PP; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Juarez OA; Baylor College of Medicine Genetics Clinic, Children's Hospital of San Antonio, San Antonio, TX, USA., Grace AN; Baylor College of Medicine Genetics Clinic, Children's Hospital of San Antonio, San Antonio, TX, USA., Buratti J; AP-HP, Hôpital de la Pitié Salpêtrière, Département de Génétique, 75013 Paris, France., Mignot C; AP-HP, Hôpital de la Pitié Salpêtrière, Département de Génétique, 75013 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM, 75013 Paris, France; AP-HP, Hôpital Robert Debré, Service de Neurologie Pediatrique et de Maladies Métaboliques, 75019 Paris, France., Gras D; AP-HP, Hôpital Robert Debré, Service de Neurologie Pediatrique et de Maladies Métaboliques, 75019 Paris, France., Nava C; AP-HP, Hôpital de la Pitié Salpêtrière, Département de Génétique, 75013 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM, 75013 Paris, France; AP-HP, Hôpital Robert Debré, Service de Neurologie Pediatrique et de Maladies Métaboliques, 75019 Paris, France., Pierce SR; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Keren B; AP-HP, Hôpital de la Pitié Salpêtrière, Département de Génétique, 75013 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM, 75013 Paris, France; AP-HP, Hôpital Robert Debré, Service de Neurologie Pediatrique et de Maladies Métaboliques, 75019 Paris, France., Kennedy BC; Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA; Department of Neurosurgery, The University of Pennsylvania, Philadelphia, PA 19104, USA., Pena SDJ; GENE - Núcleo de Genética Médica, Belo Horizonte, MG, Brazil; Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil; Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Cuddapah VA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: cuddapahv@chop.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2022 Dec 01; Vol. 109 (12), pp. 2253-2269. Date of Electronic Publication: 2022 Nov 21.

Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant.

Autor: Linhares ND; Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.; Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Fagundes EDT; Departamento de Pediatria, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.; Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Ferreira AR; Departamento de Pediatria, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.; Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Queiroz TCN; Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., da Silva LR; Hospital de Clínicas-EBSERH, Universidade Federal de Uberlândia, Uberlândia, Brazil., Pena SDJ; Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.; Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.; Laboratório Gene-Núcleo de Genética Médica, Belo Horizonte, Brazil.

Publikováno v: Frontiers in genetics [Front Genet] 2022 Feb 25; Vol. 13, pp. 796759. Date of Electronic Publication: 2022 Feb 25 (Print Publication: 2022).

DNA Topoisomerase 3α Is Involved in Homologous Recombination Repair and Replication Stress Response in Trypanosoma cruzi .

Autor: Costa-Silva HM; Laboratório de Genética Bioquímica, Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Resende BC; Laboratório de Genética Bioquímica, Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Umaki ACS; Laboratório de Biologia Molecular e Sistêmica de Tripanossomatídeos, Instituto Carlos Chagas, Fundação Oswaldo Cruz (FIOCRUZ), Curitiba, Brazil., Prado W; Laboratório de Genética Bioquímica, Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., da Silva MS; Laboratório de Ciclo Celular, Centro de Toxinas, Resposta Imune e Sinalização Celular, Instituto Butantan, São Paulo, Brazil., Virgílio S; Laboratório de Biologia Molecular de Leishmanias, Departamento de Biologia Celular e Molecular e Bioagentes Patogênicos, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo (USP), Ribeirão Preto, Brazil., Macedo AM; Laboratório de Genética Bioquímica, Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Pena SDJ; Laboratório de Genética Bioquímica, Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Tahara EB; Laboratório de Genética Bioquímica, Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Tosi LRO; Laboratório de Biologia Molecular de Leishmanias, Departamento de Biologia Celular e Molecular e Bioagentes Patogênicos, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo (USP), Ribeirão Preto, Brazil., Elias MC; Laboratório de Ciclo Celular, Centro de Toxinas, Resposta Imune e Sinalização Celular, Instituto Butantan, São Paulo, Brazil., Andrade LO; Laboratório de Biologia Celular e Molecular, Departamento de Morfologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Reis-Cunha JL; Departamento de Medicina Veterinária Preventiva, Escola de Veterinária, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Franco GR; Laboratório de Genética Bioquímica, Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Fragoso SP; Laboratório de Biologia Molecular e Sistêmica de Tripanossomatídeos, Instituto Carlos Chagas, Fundação Oswaldo Cruz (FIOCRUZ), Curitiba, Brazil., Machado CR; Laboratório de Genética Bioquímica, Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

Publikováno v: Frontiers in cell and developmental biology [Front Cell Dev Biol] 2021 May 13; Vol. 9, pp. 633195w. Date of Electronic Publication: 2021 May 13 (Print Publication: 2021).

Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions.

Autor: Watson CM; Yorkshire and North East Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, LS9 7TF, UK. c.m.watson@leeds.ac.uk.; Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, LS9 7TF, UK. c.m.watson@leeds.ac.uk., Crinnion LA; Yorkshire and North East Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, LS9 7TF, UK.; Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, LS9 7TF, UK., Lindsay H; Yorkshire and North East Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, LS9 7TF, UK., Mitchell R; Yorkshire and North East Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, LS9 7TF, UK., Camm N; Yorkshire and North East Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, LS9 7TF, UK., Robinson R; Yorkshire and North East Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, LS9 7TF, UK., Joyce C; Department of Endocrinology, Cork University Hospital, Wilton, Cork, Ireland., Tanteles GA; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, 6 International Airport Avenue, PO Box 23462, CY1683, Nicosia, Cyprus., Halloran DJO; Department of Endocrinology, Cork University Hospital, Wilton, Cork, Ireland., Pena SDJ; GENE-Núcleo de Genética Médica, Belo Horizonte, MG, Brazil., Carr IM; Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, LS9 7TF, UK., Bonthron DT; Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, LS9 7TF, UK.

Publikováno v: Laboratory investigation; a journal of technical methods and pathology [Lab Invest] 2021 Apr; Vol. 101 (4), pp. 442-449. Date of Electronic Publication: 2020 Sep 28.