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Wyszukujesz frazę ""DNA Helicases genetics"" wg kryterium: Temat


Tytuł :
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport
Autorzy :
Johnson, Colin A
Hartill, Verity L
van de Hoek, Glenn
Patel, Mitali P
Little, Rosie
Watson, Christopher M
Berry, Ian R
Shoemark, Amelia
Abdelmottaleb, Dina
Parkes, Emma
Bacchelli, Chiara
Szymanska, Katarzyna
Knoers, Nine V
Scambler, Peter J
Ueffing, Marius
Boldt, Karsten
Yates, Robert
Winyard, Paul J
Adler, Beryl
Moya, Eduardo
Hattingh, Louise
Shenoy, Anil
Hogg, Claire
Sheridan, Eamonn
Roepman, Ronald
Norris, Dominic
Mitchison, Hannah M
Giles, Rachel H
Pokaż więcej
Temat :
Mutation, Missense/genetics
Whole Exome Sequencing/methods
VARIANTS
phenotype, situs, inversu mutation, congenital heart disease, adenosine, triphosphatases, carrier proteins, cell motility, cytoplasm, dynein atpase, embryo, homozygote, missense mutation, relationship - sibling, zebrafish arm cilia, heart, handedness, mice vesicle pathogenicity heart looping gene complementation cardiac development
DYSKINESIA
DISORDERS
MUTATIONS
Microtubule-Associated Proteins/genetics
PROTEIN
HETEROTAXY
Animals
HEK293 Cells
Female
Phenotype
AXONEMAL DYNEINS
LEFT-RIGHT ASYMMETRY
DISEASE
DNA Helicases/genetics
Tumor Suppressor Proteins/genetics
Cilia/metabolism
ATPases Associated with Diverse Cellular Activities/genetics
Zebrafish Proteins/genetics
Genotype
Pedigree
DEFECTS
Zebrafish
Carrier Proteins/genetics
Humans
Articles
Male
Źródło :
Human Molecular Genetics, 27(3), 529 - 545. Oxford University Press
Human Molecular Genetics, 27(3), 529. Oxford University Press
Human Molecular Genetics (2017) (In press).
Opis pliku :
image/pdf; application/pdf; text
Tytuł :
Genome-wide association and functional follow-up reveals new loci for kidney function.
Autorzy :
Pattaro, C.
Köttgen, A.
Teumer, A.
Garnaas, M.
Böger, C.A.
Fuchsberger, C.
Olden, M.
Chen, M.H.
Tin, A.
Taliun, D.
Li, M.
Gao, X.
Gorski, M.
Yang, Q.
Hundertmark, C.
Foster, M.C.
O'Seaghdha, C.M.
Glazer, N.
Isaacs, A.
Liu, C.T.
Smith, A.V.
O'Connell, J.R.
Struchalin, M.
Tanaka, T.
Li, G.
Johnson, A.D.
Gierman, H.J.
Feitosa, M.
Hwang, S.J.
Atkinson, E.J.
Lohman, K.
Cornelis, M.C.
Johansson, Å.
Tönjes, A.
Dehghan, A.
Chouraki, V.
Holliday, E.G.
Sorice, R.
Kutalik, Z.
Lehtimäki, T.
Esko, T.
Deshmukh, H.
Ulivi, S.
Chu, A.Y.
Murgia, F.
Trompet, S.
Imboden, M.
Kollerits, B.
Pistis, G.
Harris, T.B.
Launer, L.J.
Aspelund, T.
Eiriksdottir, G.
Mitchell, B.D.
Boerwinkle, E.
Schmidt, H.
Cavalieri, M.
Rao, M.
Hu, F.B.
Demirkan, A.
Oostra, B.A.
de Andrade, M.
Turner, S.T.
Ding, J.
Andrews, J.S.
Freedman, B.I.
Koenig, W.
Illig, T.
Döring, A.
Wichmann, H.E.
Kolcic, I.
Zemunik, T.
Boban, M.
Minelli, C.
Wheeler, H.E.
Igl, W.
Zaboli, G.
Wild, S.H.
Wright, A.F.
Campbell, H.
Ellinghaus, D.
Nöthlings, U.
Jacobs, G.
Biffar, R.
Endlich, K.
Ernst, F.
Homuth, G.
Kroemer, H.K.
Nauck, M.
Stracke, S.
Völker, U.
Völzke, H.
Kovacs, P.
Stumvoll, M.
Mägi, R.
Hofman, A.
Uitterlinden, A.G.
Rivadeneira, F.
Aulchenko, Y.S.
Polasek, O.
Hastie, N.
Vitart, V.
Helmer, C.
Wang, J.J.
Ruggiero, D.
Bergmann, S.
Kähönen, M.
Viikari, J.
Nikopensius, T.
Province, M.
Ketkar, S.
Colhoun, H.
Doney, A.
Robino, A.
Giulianini, F.
Krämer, B.K.
Portas, L.
Ford, I.
Buckley, B.M.
Adam, M.
Thun, G.A.
Paulweber, B.
Haun, M.
Sala, C.
Metzger, M.
Mitchell, P.
Ciullo, M.
Kim, S.K.
Vollenweider, P.
Raitakari, O.
Metspalu, A.
Palmer, C.
Gasparini, P.
Pirastu, M.
Jukema, J.W.
Probst-Hensch, N.M.
Kronenberg, F.
Toniolo, D.
Gudnason, V.
Shuldiner, A.R.
Coresh, J.
Schmidt, R.
Ferrucci, L.
Siscovick, D.S.
van Duijn, C.M.
Borecki, I.
Kardia, S.L.
Liu, Y.
Curhan, G.C.
Rudan, I.
Gyllensten, U.
Wilson, J.F.
Franke, A.
Pramstaller, P.P.
Rettig, R.
Prokopenko, I.
Witteman, J.C.
Hayward, C.
Ridker, P.
Parsa, A.
Bochud, M.
Heid, I.M.
Goessling, W.
Chasman, D.I.
Kao, W.H.
Fox, C.S.
Pokaż więcej
Temat :
urologic and male genital diseases
African Americans/genetics
Aged
Animals
Caspase 9/genetics
Cyclin-Dependent Kinases/genetics
DEAD-box RNA Helicases/genetics
DNA Helicases/genetics
European Continental Ancestry Group/genetics
Female
Follow-Up Studies
Gene Knockdown Techniques
Genome-Wide Association Study
Glomerular Filtration Rate/genetics
Humans
Kidney/physiopathology
Kidney Failure, Chronic/genetics
Kidney Failure, Chronic/pathology
Male
Middle Aged
Phosphoric Diester Hydrolases/genetics
Zebrafish/genetics
Źródło :
Plos Genetics, vol. 8, no. 3, pp. e1002584
Opis pliku :
application/pdf
Tytuł :
ATP-dependent chromatin remodeling and histone binding by the Cockayne syndrome B DNA repair-transcription coupling factor.
Autorzy :
Citterio, Elisabetta
Boom, Vincent
Schnitzler, G.
Kanaar, Roland
Bonte, Edgar
Kingston, R.E.
Hoeijmakers, Jan
Vermeulen, Wim
Pokaż więcej
Temat :
0 (Chromatin)
human)
Superhelical/chemistry/genetics/metabolism
0 (Cell Extracts)
musculoskeletal diseases
nutritional and metabolic diseases
DNA
Drosophila melanogaster/cytology/embryology
Transcription Factors/metabolism
Animals
Cockayne Syndrome/genetics
Models
148972-58-1 (ERCC6 protein)
Deoxyribonuclease I/metabolism
Adenosine Triphosphate/*metabolism
0 (SMARCA2 protein
Plasmids/chemistry/genetics/metabolism
Hela Cells
56-65-5 (Adenosine Triphosphate)
Chromatin/chemistry/genetics/*metabolism
Gene Expression Regulation
Mutation
Recombinant Fusion Proteins
0 (DNA-Binding Proteins)
Support
0 (Recombinant Fusion Proteins)
0 (Plasmids)
136219-48-2 (SNF2 protein)
DNA-Binding Proteins/metabolism
EC 5.99.- (DNA Helicases)
Nucleic Acid Conformation
Histones/chemistry/metabolism
Non-U.S. Gov't
Superhelical)
0 (SMARCA4 protein
Transcription
Nucleosomes/chemistry/genetics/metabolism
0 (Histones)
0 (Transcription Factors)
Human
Genetic
0 (DNA
Trypsin/metabolism
DNA Repair
EC 3.1.21.1 (Deoxyribonuclease I)
congenital, hereditary, and neonatal diseases and abnormalities
EC 3.4.21.4 (Trypsin)
0 (Nucleosomes)
DNA Helicases/genetics/*metabolism
Cell Extracts
Źródło :
Molecular and Cellular Biology, 20, 7643 - 7653
Opis pliku :
application/pdf

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