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Tytuł :
Genomic Surveillance and Phylodynamic Analyses Reveal the Emergence of Novel Mutations and Co-mutation Patterns Within SARS-CoV-2 Variants Prevalent in India
Autorzy :
Nupur Biswas
Priyanka Mallick
Sujay Krishna Maity
Debaleena Bhowmik
Arpita Ghosh Mitra
Soumen Saha
Aviral Roy
Partha Chakrabarti
Sandip Paul
Saikat Chakrabarti
Pokaż więcej
Temat :
genome sequencing
India
mutationgenetics
phylodynamic analyses
SARS-CoV-2
COVID-19
Microbiology
QR1-502
Źródło :
Frontiers in Microbiology, Vol 12 (2021)
Opis pliku :
electronic resource
Relacje :
https://www.frontiersin.org/articles/10.3389/fmicb.2021.703933/full; https://doaj.org/toc/1664-302X
Dostęp URL :
https://doaj.org/article/26ab8dbc3e2e4758b3a6d709f570c31e
Czasopismo naukowe
Tytuł :
The landscape of epilepsy-related GATOR1 variants
Autorzy :
Baldassari, Sara
Picard, Fabienne
Verbeek, Nienke E.
van Kempen, Marjan
Brilstra, Eva H.
Lesca, Gaetan
Conti, Valerio
Guerrini, Renzo
Bisulli, Francesca
Licchetta, Laura
Pippucci, Tommaso
Tinuper, Paolo
Hirsch, Edouard
de Saint Martin, Anne
Chelly, Jamel
Rudolf, Gabrielle
Chipaux, Mathilde
Ferrand-Sorbets, Sarah
Dorfmüller, Georg
Sisodiya, Sanjay
Balestrini, Simona
Schoeler, Natasha
Hernandez-Hernandez, Laura
Krithika, S.
Oegema, Renske
Hagebeuk, Eveline
Gunning, Boudewijn
Deckers, Charles
Berghuis, Bianca
Wegner, Ilse
Niks, Erik
Jansen, Floor E.
Braun, Kees
de Jong, Daniëlle
Rubboli, Guido
Talvik, Inga
Sander, Valentin
Uldall, Peter
Jacquemont, Marie-Line
Nava, Caroline
Leguern, Eric
Julia, Sophie
Gambardella, Antonio
d’Orsi, Giuseppe
Crichiutti, Giovanni
Faivre, Laurence
Darmency, Veronique
Benova, Barbora
Krsek, Pavel
Biraben, Arnaud
Lebre, Anne-Sophie
Jennesson, Mélanie
Sattar, Shifteh
Marchal, Cécile
Nordli, Douglas R
Lindstrom, Kristin
Striano, Pasquale
Lomax, Lysa Boissé
Kiss, Courtney
Bartolomei, Fabrice
Lepine, Anne Fabienne
Schoonjans, An-Sofie
Stouffs, Katrien
Jansen, Anna
Panagiotakaki, Eleni
Ricard-Mousnier, Brigitte
Thevenon, Julien
de Bellescize, Julitta
Catenoix, Hélène
Dorn, Thomas
Zenker, Martin
Müller-Schlüter, Karen
Brandt, Christian
Krey, Ilona
Polster, Tilman
Wolff, Markus
Balci, Meral
Rostasy, Kevin
Achaz, Guillaume
Zacher, Pia
Becher, Thomas
Cloppenborg, Thomas
Yuskaitis, Christopher J.
Weckhuysen, Sarah
Poduri, Annapurna
Lemke, Johannes R.
Møller, Rikke S.
Baulac, Stéphanie
Pokaż więcej
Temat :
Epilepsy
Seizures/complications
INDEL Mutation
Infant, Newborn
Brugada Syndrome/genetics
ddc:616.8
Infant
Research Support, Non-U.S. Gov't
DEPDC5
GTPase-Activating Proteins/genetics
Epilepsy/complications
Tumor Suppressor Proteins
Loss of Function Mutation
Genetic focal epilepsy
Brugada Syndrome
Seizures
Multiprotein Complexes
Female
GTPase-Activating Proteins
Child, Preschool
Repressor Proteins
INDEL Mutation/genetics
Signal Transduction
SUDEP
Signal Transduction/genetics
mTORC1 pathway
Loss of Function Mutation/genetics
Multiprotein Complexes/genetics
Tumor Suppressor Proteins/genetics
DNA Copy Number Variations/genetics
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Article
Pedigree
Focal cortical dysplasia
Mechanistic Target of Rapamycin Complex 1
Repressor Proteins/genetics
DNA Copy Number Variations
Adolescent
Journal Article
Genetic Predisposition to Disease
Mechanistic Target of Rapamycin Complex 1/genetics
Humans
Human medicine
Male
Child
Źródło :
Genetics in Medicine, Nature Publishing Group, 2019, 21 (2), pp.398-408. ⟨10.1038/s41436-018-0060-2⟩
Genetics in Medicine (2018)
Genetics in medicine : official journal of the American College of Medical Genetics
Baldassari, S, Picard, F, Verbeek, N E, van Kempen, M, Brilstra, E H, Lesca, G, Conti, V, Guerrini, R, Bisulli, F, Licchetta, L, Pippucci, T, Tinuper, P, Hirsch, E, de Saint Martin, A, Chelly, J, Rudolf, G, Chipaux, M, Ferrand-Sorbets, S, Dorfmüller, G, Sisodiya, S, Balestrini, S, Schoeler, N, Hernandez-Hernandez, L, Krithika, S, Oegema, R, Hagebeuk, E, Gunning, B, Deckers, C, Berghuis, B, Wegner, I, Niks, E, Jansen, F E, Braun, K, de Jong, D, Rubboli, G, Talvik, I, Sander, V, Uldall, P, Jacquemont, M-L, Nava, C, Leguern, E, Julia, S, Gambardella, A, d'Orsi, G, Crichiutti, G, Faivre, L, Darmency, V, Benova, B, Krsek, P, Biraben, A, Lebre, A-S, Jennesson, M, Sattar, S, Marchal, C, Nordli, D R, Lindstrom, K, Striano, P, Lomax, L B, Kiss, C, Bartolomei, F, Lepine, A F, Schoonjans, A-S, Stouffs, K, Jansen, A, Panagiotakaki, E, Ricard-Mousnier, B, Thevenon, J, de Bellescize, J, Catenoix, H, Dorn, T, Zenker, M, Müller-Schlüter, K, Brandt, C, Krey, I, Polster, T, Wolff, M, Balci, M, Rostasy, K, Achaz, G, Zacher, P, Becher, T, Cloppenborg, T, Yuskaitis, C J, Weckhuysen, S, Poduri, A, Lemke, J R, Møller, R S & Baulac, S 2019, ' The landscape of epilepsy-related GATOR1 variants ', Genetics In Medicine, vol. 21, no. 2, pp. 398-408 . https://doi.org/10.1038/s41436-018-0060-2
Baldassari, S, Picard, F, Verbeek, N E, van Kempen, M, Brilstra, E H, Lesca, G, Conti, V, Guerrini, R, Bisulli, F, Licchetta, L, Pippucci, T, Tinuper, P, Hirsch, E, de Saint Martin, A, Chelly, J, Rudolf, G, Chipaux, M, Ferrand-Sorbets, S, Dorfmüller, G, Sisodiya, S, Balestrini, S, Schoeler, N, Hernandez-Hernandez, L, Krithika, S, Oegema, R, Hagebeuk, E, Gunning, B, Deckers, C, Berghuis, B, Wegner, I, Niks, E, Jansen, F E, Braun, K, de Jong, D, Rubboli, G, Talvik, I, Sander, V, Uldall, P, Jacquemont, M L, Nava, C, Leguern, E, Julia, S, Gambardella, A, d’Orsi, G, Crichiutti, G, Faivre, L, Darmency, V, Benova, B, Krsek, P, Biraben, A, Lebre, A S, Jennesson, M, Sattar, S, Marchal, C, Nordli, D R, Lindstrom, K, Striano, P, Lomax, L B, Kiss, C, Bartolomei, F, Lepine, A F, Schoonjans, A S, Stouffs, K, Jansen, A, Panagiotakaki, E, Ricard-Mousnier, B, Thevenon, J, de Bellescize, J, Catenoix, H, Dorn, T, Zenker, M, Müller-Schlüter, K, Brandt, C, Krey, I, Polster, T, Wolff, M, Balci, M, Rostasy, K, Achaz, G, Zacher, P, Becher, T, Cloppenborg, T, Yuskaitis, C J, Weckhuysen, S, Poduri, A, Lemke, J R, Møller, R S & Baulac, S 2019, ' The landscape of epilepsy-related GATOR1 variants ', Genetics in Medicine, vol. 21, no. 2, pp. 398-408 . https://doi.org/10.1038/s41436-018-0060-2
Opis pliku :
application/pdf; pdf; STAMPA
Tytuł :
Investigação genético-molecular da baixa estatura isolada através de sequenciamento paralelo em larga escala
Molecular investigation of isolated short stature using targeted massive parallel sequencing
Autorzy :
Mariana Ferreira de Assis Funari
Pokaż więcej
Temat :
Biologia molecular/métodos
Insuficiência de crescimento/genética
Lâmina de crescimento/crescimento e desenvolvimento
Mutação/genética
Sequenciamento de nucleotídeos em larga escala
SHOX
Failure to thrive/genetics
Growth plate/growth and development
High-throughput nucleotide sequencing
Molecular biology/methods
Mutation/genetics
Źródło :
Biblioteca Digital de Teses e Dissertações da USP
Universidade de São Paulo
Tytuł :
Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations
Autorzy :
Lesca, Gaetan
Møller, Rikke S.
Rudolf, Gabrielle
Hirsch, Edouard
Hjalgrim, Helle
Szepetowski, Pierre
Pokaż więcej
Temat :
childhood focal epilepsies
encephalopathy related to status epilepticus during slow sleep
epileptic-aphasia
genetics
GRIN2A
Rolandic epilepsy
Electroencephalography/methods
Mutation/genetics
Humans
Epilepsy, Rolandic/genetics
Aphasia/genetics
Receptors, N-Methyl-D-Aspartate/genetics
Pedigree
Child
Landau-Kleffner Syndrome/diagnosis
Źródło :
Lesca, G, Møller, R S, Rudolf, G, Hirsch, E, Hjalgrim, H & Szepetowski, P 2019, ' Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations ', Epileptic disorders : international epilepsy journal with videotape, vol. 21, no. S1, pp. 41-47 . https://doi.org/10.1684/epd.2019.1056
Tytuł :
Stress response, behavior, and development are shaped by transposable element-induced mutations in Drosophila.
Autorzy :
Rech, Gabriel E.
Bogaerts-Márquez, María
Merenciano, Miriam
Horváth, Vivien
Fiston-Lavier, Anna-Sophie
Venkataram, Sandeep
Quesneville, Hadi
González, Josefa
Barrón, Maite G.
Villanueva-Cañas, José Luis
Luyten, Isabelle
Petrov, Dmitri A.
Pokaż więcej
Temat :
Evolutionary Adaptation
Animal Models
Eukaryota
Alcohols
Evolutionary Processes
Chemical Compounds
Invertebrate Genomics
QH426-470
Physical Sciences
MESH: Selection, Genetic: genetics
MESH: Drosophila melanogaster: genetics
Genome Analysis
MESH: Gene Frequency: genetics
Animals
Biology and Life Sciences
Arthropoda
MESH: DNA Transposable Elements: genetics
MESH: Genome, Insect: genetics
Insects
MESH: Gene Expression Regulation, Developmental: genetics
Chi Square Tests
Organisms
Animal Genomics
Gene Expression
Statistical Methods
Computational Biology
MESH: Animals
Research Article
Mathematics
Drosophila Melanogaster
MESH: Stress, Physiological: genetics
Mathematical and Statistical Techniques
Statistical Hypothesis Testing
MESH: Polymorphism, Single Nucleotide: genetics
Genetics
Evolutionary Biology
Organic Chemistry
Genomics
MESH: Mutation: genetics
Experimental Organism Systems
Chemistry
MESH: Behavior, Animal: physiology
Research and Analysis Methods
Animal Studies
Gene Ontologies
[SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]
Model Organisms
Drosophila
MESH: Evolution, Molecular
Organic Compounds
Invertebrates
sequence
evolution
population
adaptation
melanogaster
reference panel
positive selection
insecticide resistance
genetic-variation
genome-wide patterns
Statistics
Źródło :
Plos Genetics 2 (15), 1-33. (2019)
PLoS Genetics, Vol 15, Iss 2, p e1007900 (2019)
PLoS Genetics, Public Library of Science, 2019, 15 (2), pp.e1007900. ⟨10.1371/journal.pgen.1007900⟩
Opis pliku :
application/pdf
Tytuł :
Evolutionary highways to persistent bacterial infection
Autorzy :
Bartell, Jennifer A.
Sommer, Lea M.
Johansen, Helle Krogh
Haagensen, Janus A. J.
Loch, Anne
Espinosa, Rocio
Molin, Søren
Pokaż więcej
Temat :
Mutation/genetics
Models, Statistical
Pseudomonas Infections/genetics
Biological Evolution
Microbial ecology
Article
Research Support, Non-U.S. Gov't
Evolutionary genetics
Evolvability
Pathogens
Science
Pseudomonas aeruginosa/pathogenicity
Journal Article
Cystic Fibrosis/microbiology
Humans
Źródło :
Bartell, J A, Sommer, L M, Haagensen, J A J, Loch, A, Espinosa, R, Molin, S & Johansen, H K 2019, ' Evolutionary highways to persistent bacterial infection ', Nature Communications, vol. 10, no. 1, 629 . https://doi.org/10.1038/s41467-019-08504-7
Bartell, J, Sommer, L M, Haagensen, J A J, Loch, A, Espinosa Portero, R, Molin, S & Johansen, H K 2019, ' Evolutionary highways to persistent bacterial infection ', Nature Communications, vol. 10, 629 . https://doi.org/10.1038/s41467-019-08504-7
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Sommer, L, Bartell, J, Haagensen, J A J, Loch, A, Espinosa Portero, R, Molin, S & Johansen, H 2018, Evolutionary highways to persistent bacterial infection . in The Danish Microbiological Society Annual Congress 2018 - programme & abstracts . Danish Microbiological Society, Copenhagen, Denmark, pp. 43-44, The Danish Microbiological Society Annual Congress 2018, Copenhagen, Denmark, 12/11/2018 .
Opis pliku :
application/pdf

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