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Wyszukujesz frazę ""Protein Kinases/genetics"" wg kryterium: Temat


Tytuł :
ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma
Autorzy :
Pance, Alena
Bakal, Chris
Arends, Mark J.
Rashid, Mamunur
van der Horst, Michiel
Mentzel, Thomas
Butera, Francesca
Ferreira, Ingrid
Rütten, Arno
Luzar, Bostjan
Marusic, Zlatko
de Saint Aubain, Nicolas
Ko, Jennifer S.
Billings, Steven D.
Chen, Sofia
Abi Daoud, Marie
Hewinson, James
Louzada, Sandra
Harms, Paul W.
Cerretelli, Guia
Robles-Espinoza, Carla Daniela
Patel, Rajiv M.
van der Weyden, Louise
Hornick, Jason L.
Brenn, Thomas
Adams, David J.
Pokaż więcej
Temat :
Astronomie
Physique
Cancer genetics
Technologie de l'environnement, contrôle de la pollution
Loss of Function Mutation
Sweat Glands -- pathology
Mutation, Missense
Cancer genomics
Female
Aged
Protein Kinases -- genetics
Middle Aged
Article
Whole Exome Sequencing
Sweat Gland Neoplasms -- genetics -- pathology
Deubiquitinating Enzyme CYLD -- genetics
Protein Domains -- genetics
DNA (Cytosine-5-)-Methyltransferases -- genetics
Science
Cohort Studies
Carcinoma, Adenoid Cystic -- genetics -- pathology
DNA Mutational Analysis
Adult
Aged, 80 and over
Tumor Suppressor Protein p53 -- genetics
Humans
Male
Chimie
Źródło :
Nature communications, 10 (1
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Rashid, M, van der Horst, M P J, Mentzel, T, Butera, F, Ferreira, I, Pance, A, Ruetten, A, Luzar, B, Marusic, Z, Aubain, N, Ko, J, Billings, S, Chen, S, Abi-Daoud, M, Hewinson, J, Louzada, S, Harms, P W, Cerretelli, G, Robles-Espinoza, C D, Patel, R, van der Weyden, L, Bakal, C, Hornick, J L, Arends, M, Brenn, T & Adams, D 2019, ' ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma ', Nature Communications, vol. 10, no. 1, pp. 2213 . https://doi.org/10.1038/s41467-019-09979-0
Opis pliku :
1 full-text file(s): application/pdf; application/pdf
Tytuł :
De Novo and inherited loss-of-function variants in TLK2: Clinical and genotype-phenotype evaluation of a distinct neurodevelopmental disorder
Autorzy :
Reijnders, Margot R.F.
Miller, Kerry A.
Alvi, Mohsan
Goos, Jacqueline A.C.
Lees, Melissa M.
de Burca, Anna
Henderson, Alex
Kraus, Alison
Mikat, Barbara
de Vries, Bert B.A.
Isidor, Bertrand
Kerr, Bronwyn
Marcelis, Carlo
Schluth-Bolard, Caroline
Deshpande, Charu
Ruivenkamp, Claudia A.L.
Wieczorek, Dagmar
Baralle, Diana
Blair, Edward M.
Engels, Hartmut
Lüdecke, Hermann Josef
Eason, Jacqueline
Santen, Gijs W.E.
Clayton-Smith, Jill
Chandler, Kate
Tatton-Brown, Katrina
Payne, Katelyn
Helbig, Katherine
Radtke, Kelly
Nugent, Kimberly M.
Cremer, Kirsten
Strom, Tim M.
Bird, Lynne M.
Sinnema, Margje
Bitner-Glindzicz, Maria
van Dooren, Marieke F.
Alders, Marielle
Koopmans, Marije
Brick, Lauren
Kozenko, Mariya
Harline, Megan L.
Klaassens, Merel
Steinraths, Michelle
Cooper, Nicola S.
Edery, Patrick
Yap, Patrick
Terhal, Paulien A.
Taylor, Rachel L.
McLean, Scott
Douzgou, Sofia
Pokaż więcej
Temat :
Translocation, Genetic
no
RNA, Messenger/genetics
Young Adult
Infant
Inheritance Patterns/genetics
Genetics
MUTATIONS
Base Sequence
Facies
Female
facial averaging
Cell Line
Child, Preschool
Neurodevelopmental Disorders/genetics
Genetics(clinical)
GENES
Protein Kinases/genetics
Loss of Function Mutation/genetics
Tousled-like
kinase
TOUSLED-LIKE KINASES
haploinsufficiency
Adolescent
Genetic Association Studies
Adult
Humans
intellectual disability
Male
Child
Źródło :
American journal of human genetics, 102(6), 1195 - 1203. Cell Press
American Journal of Human Genetics, 102(6), 1195. Cell Press
The Deciphering Developmental Disorders Study, Kerr, B, Clayton-Smith, J, Chandler, K & Taylor, R L 2018, ' De Novo and Inherited Loss-of-Function Variants in TLK2 : Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder ', American Journal of Human Genetics, vol. 102, no. 6, pp. 1195-1203 . https://doi.org/10.1016/j.ajhg.2018.04.014
American Journal of Human Genetics, 102(6), 1195 - 1203. Cell Press
Opis pliku :
image/pdf; application/pdf; text
Tytuł :
Divergence of Evolutionary Ways Among Common sym Genes: CASTOR and CCaMK Show Functional Conservation Between Two Symbiosis Systems and Constitute the Root of a Common Signaling Pathway
Autorzy :
Banba, M.
Gutjahr, C.
Miyao, A.
Hirochika, H.
Paszkowski, U.
Kouchi, H.
Imaizumi-Anraku, H.
Pokaż więcej
Temat :
Calcium-Calmodulin-Dependent Protein Kinases/genetics
Calcium-Calmodulin-Dependent Protein Kinases/metabolism
DNA, Plant/genetics
Loteae/genetics
Loteae/metabolism
Loteae/microbiology
Mycorrhizae/physiology
Oryza/genetics
Oryza/metabolism
Oryza/microbiology
Plant Proteins/genetics
Plant Proteins/metabolism
Root Nodules, Plant/genetics
Root Nodules, Plant/metabolism
Źródło :
Plant and Cell Physiology, vol. 49, no. 11, pp. 1659-1671
Opis pliku :
application/pdf
Tytuł :
The Arabidopsis leucine-rich repeat receptor kinase MIK2/LRR-KISS connects cell wall integrity sensing, root growth and response to abiotic and biotic stresses.
Autorzy :
Engelsdorf, Timo
Rhodes, Jack
McKenna, Joseph F.
Koevoets, Iko
Roux, Milena
Breda, Alice S.
Rep, Martijn
Testerink, Christa
Mouille, Grégory
Zipfel, Cyril
Van der Does, Dieuwertje
Boutrot, Freddy
Vernhettes, Samantha
Tintor, Nico
Veerabagu, Manikandan
Miedes, Eva
Segonzac, Cécile
Hardtke, Christian S.
Molina, Antonio
Höfte, Herman
Hamann, Thorsten
Pokaż więcej
Temat :
Molecular Biology
Research Article
croissance racinaire
réponse au stress
Chemical Compounds
paroi cellulaire
QH426-470
Physical Sciences
Genetics
Plant Cells
Organic Chemistry
Plants
Molecular Biology Techniques
Biosynthesis
Plant Science
Plant Growth and Development
Experimental Organism Systems
Seedlings
activité kinase
Chemistry
Cellular Types
Plant Cell Biology
Biology and Life Sciences
Developmental Biology
Research and Analysis Methods
Plant Cell Walls
récepteur
Root Growth
Plant and Algal Models
arabidopsis
Cell Biology
Model Organisms
Cellular Structures and Organelles
Cellulose
Marker Genes
Cell Walls
Biochemistry
Organisms
Journal Article
Organic Compounds
Brassica
Arabidopsis Thaliana
Gene Expression
Arabidopsis/drug effects
Arabidopsis/genetics
Arabidopsis Proteins/biosynthesis
Arabidopsis Proteins/genetics
Cell Wall/drug effects
Cell Wall/genetics
Cellulose/biosynthesis
Cyclopentanes/metabolism
Disease Resistance/genetics
Fusarium/pathogenicity
Gene Expression Regulation, Plant/drug effects
Lignin/biosynthesis
Oxylipins/metabolism
Plant Diseases/genetics
Plant Diseases/microbiology
Plant Roots/drug effects
Plant Roots/genetics
Protein Kinases/biosynthesis
Protein Kinases/genetics
Receptors, Cell Surface/genetics
Sodium Chloride/toxicity
Stress, Physiological/drug effects
Stress, Physiological/genetics
Źródło :
PLoS Genetics, Vol 13, Iss 6, p e1006832 (2017)
PLOS Genetics, 13(6). Public Library of Science
Plos Genetics 6 (13), . (2017)
PLoS genetics, vol. 13, no. 6, pp. e1006832
Opis pliku :
application/pdf; multipart/x-zip
Tytuł :
Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations
Autorzy :
Liao, Chunyan
Ashley, Neil
Diot, Alan
Morten, Karl
Phadwal, Kanchan
Williams, Andrew
Fearnley, Ian
Rosser, Lyndon
Lowndes, Jo
Fratter, Carl
Ferguson, David J P
Vay, Laura
Quaghebeur, Gerardine
Moroni, Isabella
Bianchi, Stefania
Lamperti, Costanza
Downes, Susan M
Sitarz, Kamil S
Flannery, Padraig J
Carver, Janet
Dombi, Eszter
East, Daniel
Laura, Matilde
Reilly, Mary M
Mortiboys, Heather
Prevo, Remko
Campanella, Michelangelo
Daniels, Matthew J
Zeviani, Massimo
Yu-Wai-Man, Patrick
Simon, Anna Katharina
Votruba, Marcela
Poulton, Joanna
Pokaż więcej
Temat :
Antioxidants/pharmacology
Cells, Cultured
Cognition Disorders/etiology
DNA Mutational Analysis
DNA, Mitochondrial/genetics
Family Health
Female
Fibroblasts/drug effects
GTP Phosphohydrolases/genetics
Humans
Male
Membrane Potential, Mitochondrial/genetics
Mitochondrial Proteins/genetics
Mitophagy/genetics
Mutation/genetics
Optic Atrophy/complications
Pedigree
Protein Kinases/genetics
RNA, Small Interfering/genetics
Transfection
Ubiquinone/analogs & derivatives
Ubiquitin-Protein Ligases/genetics
Źródło :
Liao, C, Ashley, N, Diot, A, Morten, K, Phadwal, K, Williams, A, Fearnley, I, Rosser, L, Lowndes, J, Fratter, C, Ferguson, D J P, Vay, L, Quaghebeur, G, Moroni, I, Bianchi, S, Lamperti, C, Downes, S M, Sitarz, K S, Flannery, P J, Carver, J, Dombi, E, East, D, Laura, M, Reilly, M M, Mortiboys, H, Prevo, R, Campanella, M, Daniels, M J, Zeviani, M, Yu-Wai-Man, P, Simon, A K, Votruba, M & Poulton, J 2017, ' Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations ', Neurology, vol. 88, no. 2, pp. 131-142 . https://doi.org/10.1212/WNL.0000000000003491
Opis pliku :
application/pdf

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