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Wyszukujesz frazę ""Mutation - Genetics"" wg kryterium: Temat


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 :
A rice Serine/Threonine receptor-like kinase regulates arbuscular mycorrhizal symbiosis at the peri-arbuscular membrane
Autorzy :
Roth, Ronelle
Chiapello, Marco
Montero, Héctor
O'Holleran, Kevin
Hillmer, Stefan
Bowden, Sarah
Wallington, Emma J
Miyao, Akio
Paszkowski, Uta
Gehrig, Peter
Grossmann, Jonas
Hartken, Denise
Walters, Fergus
Yang, Shu-Yi
Schumacher, Karin
Craze, Melanie
Sawers, Ruairidh
Martinoia, Enrico
Pokaż więcej
Temat :
Transcriptome
Functional Genomics Center Zurich
610 Medicine & health
Mycorrhizae
Oryza
Laser Capture Microdissection
Article
Proteome
Membranes
Mutation
Membrane Proteins
fungi
Symbiosis
Promoter Regions, Genetic
Science
Zea mays
Receptors, Cell Surface
Membrane Proteins/metabolism
Mutation/genetics
Mycorrhizae/metabolism
Mycorrhizae/ultrastructure
Oryza/enzymology
Oryza/microbiology
Oryza/ultrastructure
Plant Proteins/metabolism
Promoter Regions, Genetic/genetics
Protein-Serine-Threonine Kinases/metabolism
Proteome/metabolism
Receptors, Cell Surface/metabolism
Transcriptome/genetics
Zea mays/metabolism
Zea mays/microbiology
Protein-Serine-Threonine Kinases
Plant Proteins
570 Life sciences
biology
Źródło :
Roth, Ronelle; Chiapello, Marco; Montero, Héctor; Gehrig, Peter; Grossmann, Jonas; O'Holleran, Kevin; Hartken, Denise; Walters, Fergus; Yang, Shu-Yi; Hillmer, Stefan; Schumacher, Karin; Bowden, Sarah; Craze, Melanie; Wallington, Emma J; Miyao, Akio; Sawers, Ruairidh; Martinoia, Enrico; Paszkowski, Uta (2018). A rice Serine/Threonine receptor-like kinase regulates arbuscular mycorrhizal symbiosis at the peri-arbuscular membrane. Nature Communications, 9:4677.
Nature Communications, 9 (1)
Nature communications, vol. 9, no. 1, pp. 4677
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Opis pliku :
Electronic; application/pdf; application/application/pdf
Tytuł :
High expression of cystine-glutamate antiporter xCT (SLC7A11) is an independent biomarker for epileptic seizures at diagnosis in glioma
Autorzy :
Sørensen, Mai Froberg
Heimisdóttir, Sólborg Berglind
Sørensen, Mia Dahl
Mellegaard, Casper Schau
Wohlleben, Helle
Kristensen, Bjarne Winther
Beier, Christoph Patrick
Pokaż więcej
Temat :
Aged
Amino Acid Transport System y+/genetics
Brain Neoplasms/complications
Cohort Studies
Female
Gene Expression Regulation, Neoplastic/physiology
Glioma/complications
Humans
Isocitrate Dehydrogenase/genetics
Male
Middle Aged
Multivariate Analysis
Mutation/genetics
Seizures/etiology
Survival Analysis
Tissue Array Analysis
Źródło :
Sørensen, M F, Heimisdóttir, S B, Sørensen, M D, Mellegaard, C S, Wohlleben, H, Kristensen, B W & Beier, C P 2018, ' High expression of cystine-glutamate antiporter xCT (SLC7A11) is an independent biomarker for epileptic seizures at diagnosis in glioma ', Journal of Neuro-Oncology, vol. 138, no. 1, pp. 49–53 . https://doi.org/10.1007/s11060-018-2785-9
Tytuł :
Migalastat improves diarrhea in patients with Fabry disease:clinical-biomarker correlations from the phase 3 FACETS trial
Autorzy :
Schiffmann, Raphael
Bichet, Daniel G.
Jovanovic, Ana
Hughes, Derralynn A.
Giugliani, Roberto
Feldt-Rasmussen, Ulla
Shankar, S. P.
Barisoni, Laura
Colvin, Robert B.
Jennette, J. Charles
Holdbrook, Fred
Mulberg, Andrew E.
Castelli, Jeffrey P.
Skuban, Nina
Barth, Jay
Nicholls, Kathleen M.
Pokaż więcej
Temat :
Mutation/genetics
Globotriaosylceramide
Trihexosylceramides
Fabry disease
Young Adult
Research
Research Support, Non-U.S. Gov't
Diarrhea/drug therapy
Fabry Disease/drug therapy
Lyso-Gb3
Doença de Fabry
Lyso-Gb
Female
GSRS
1-Deoxynojirimycin/analogs & derivatives
Diarréia
Amenable mutation
Aged
Medicine
Middle Aged
Biomarkers/metabolism
Diarrhea
Clinical Trial, Phase III
Randomized Controlled Trial
Gastrointestinal
Kidney/metabolism
Pharmacological chaperone
Diferença mínima clinicamente importante
Adolescent
Journal Article
Migalastat
Adult
Humans
Male
Źródło :
Universidade Federal do Rio Grande do Sul
Repositório Institucional da UFRGS
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Orphanet Journal of Rare Diseases
Schiffmann, R, Bichet, D G, Jovanovic, A, Hughes, D A, Giugliani, R, Feldt-Rasmussen, U, Shankar, S P, Barisoni, L, Colvin, R B, Jennette, J C, Holdbrook, F, Mulberg, A, Castelli, J P, Skuban, N, Barth, J A & Nicholls, K 2018, ' Migalastat improves diarrhea in patients with Fabry disease : clinical-biomarker correlations from the phase 3 FACETS trial ', Orphanet Journal of Rare Diseases, vol. 13, 68 . https://doi.org/10.1186/s13023-018-0813-7
Opis pliku :
application/pdf
Tytuł :
Evaluación de la producción de b-amiloide por la mutación E280A en el gen de la presenilina 1
Autorzy :
Andrés Villegas
Mónica M. Castañeda
Luis Fernando Arias
Beatriz Vieco
Francisco Lopera
Gabriel Bedoya
Pokaż więcej
Temat :
amyloid beta-protein
mutation/genetics
presenilin-1
Alzheimer disease
Medicine
Arctic medicine. Tropical medicine
RC955-962
Źródło :
Biomédica: revista del Instituto Nacional de Salud, Vol 27, Iss 3, Pp 372-84 (2007)
Opis pliku :
electronic resource
Relacje :
http://www.revistabiomedica.org/index.php/biomedica/article/view/200; https://doaj.org/toc/0120-4157
Dostęp URL :
https://doaj.org/article/406c7cce2fd94563980eb31b7b1f1849
Czasopismo naukowe

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