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Wyszukujesz frazę ""Tumor Suppressor Proteins genetics"" wg kryterium: Temat


Wyświetlanie 1-11 z 11
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 :
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7
Autorzy :
Pastor, Victor B.
Sahoo, Sushree S.
Boklan, Jessica
Schwabe, Georg C.
Saribeyoglu, Ebru
Strahm, Brigitte
Lebrecht, Dirk
Voss, Matthias
Bryceson, Yenan T.
Erlacher, Miriam
Ehninger, Gerhard
Niewisch, Marena
Schlegelberger, Brigitte
Baumann, Irith
Achermann, John C.
Shimamura, Akiko
Hochrein, Jochen
Tedgård, Ulf
Nilsson, Lars
Hasle, Henrik
Boerries, Melanie
Busch, Hauke
Niemeyer, Charlotte M.
Wlodarski, Marcin W.
Pokaż więcej
Temat :
Bone Marrow Failure, Cytogenetics and Molecular Genetics, Hematopoiesis, Myelodysplastic Syndromes
Thrombocytopenia
Penetrance
Young Adult
Tumor Suppressor Proteins/genetics
Infant
Article
Pedigree
Family Health
Chromosomes, Human, Pair 7
Myelodysplastic Syndromes
Adolescent
Myelodysplastic Syndromes/genetics
Adult
Female
Humans
Child, Preschool
Chromosome Deletion
Male
Child
Źródło :
Haematologica, 103 (3) pp. 427-437. (2018)
Pastor, V B, Sahoo, S, Boklan, J, Schwabe, G C, Saribeyoglu, E, Strahm, B, Lebrecht, D, Voss, M, Bryceson, Y T, Erlacher, M, Ehninger, G, Niewisch, M, Schlegelberger, B, Baumann, I, Achermann, J C, Shimamura, A, Hochrein, J, Tedgård, U, Nilsson, L, Hasle, H, Boerries, M, Busch, H, Niemeyer, C M & Wlodarski, M W 2018, ' Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7 ', Haematologica, vol. 103, no. 3, pp. 427-437 . https://doi.org/10.3324/haematol.2017.180778
Opis pliku :
text
Tytuł :
Withholding temozolomide in glioblastoma patients with unmethylated MGMT promoter - still a dilemma?
Autorzy :
Hegi, Monika E.
Stupp, Roger
Pokaż więcej
Temat :
Antineoplastic Agents/therapeutic use
Brain Neoplasms/drug therapy
Brain Neoplasms/genetics
DNA Methylation/genetics
DNA Modification Methylases/genetics
DNA Repair Enzymes/genetics
Dacarbazine/analogs & derivatives
Dacarbazine/therapeutic use
Glioblastoma/drug therapy
Glioblastoma/genetics
Humans
Promoter Regions, Genetic/genetics
Tumor Suppressor Proteins/genetics
Clinic for Oncology and Hematology
610 Medicine & health
Editorials
Źródło :
Hegi, Monika E; Stupp, Roger (2015). Withholding temozolomide in glioblastoma patients with unmethylated MGMT promoter - still a dilemma? Neuro-Oncology, 17(11):1425-1427.
Neuro-oncology, vol. 17, no. 11, pp. 1425-1427
Opis pliku :
application/pdf
Tytuł :
PRDM1 is a tumor suppressor gene in natural killer cell malignancies.
Autorzy :
Küçük, Can
Iqbal, Javeed
Hu, Xiaozhou
Gaulard, Phillip
De Leval, Laurence
Srivastava, Gopesh
Au, Wing Yan
Mckeithan, Timothy
Chan, Wing
Pokaż więcej
Temat :
NK-cell activation and homeostasis
Killer Cells, Natural - Drug Effects - Metabolism - Pathology
Transduction, Genetic
Tumor Suppressor Proteins - Genetics - Metabolism
Lymphoma, Non-Hodgkin - Genetics - Pathology
Time Factors
hemic and lymphatic diseases
Dna Methylation - Drug Effects - Genetics
CCNG2
CCNG1
Apoptosis - Drug Effects
Culture Media - Pharmacology
G2 Phase - Drug Effects - Genetics
Cell Division - Drug Effects - Genetics
Promoter Regions, Genetic - Genetics
biotage pyrosequencing
neoplastic transformation
Rna, Small Interfering - Metabolism
Gene Expression Regulation, Neoplastic - Drug Effects
Gene Silencing - Drug Effects
Biological Sciences
Interleukin-2 - Metabolism - Pharmacology
Dna Copy Number Variations - Drug Effects - Genetics
Gene Knockdown Techniques
Repressor Proteins - Genetics - Metabolism
[SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology
Biopsy
Dna Mutational Analysis
Humans
Źródło :
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2011, 108 (50), pp.20119-24. ⟨10.1073/pnas.1115128108⟩
Proceedings of the National Academy of Sciences of the United States of America, vol. 108, no. 50, pp. 20119-20124
Proceedings of the National Academy of Sciences of the United States of America
Opis pliku :
application/pdf
    Wyświetlanie 1-11 z 11

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