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Wyszukujesz frazę ""Nuclear Proteins/genetics"" wg kryterium: Temat


Tytuł :
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders
Autorzy :
Norberg, Anna
Rosén, Anna
Raaschou-Jensen, Klas
Kjeldsen, Lars
Moilanen, Jukka S.
Paulsson-Karlsson, Ylva
Baliakas, Panagiotis
Lohi, Olli
Ahmed, Aymen
Kittang, Astrid O.
Larsson, Pär
Roos, Göran
Degerman, Sofie
Hultdin, Magnus
Pokaż więcej
Temat :
Adolescent
Adult
Aged
Cell Cycle Proteins/genetics
Child
Child, Preschool
Dyskeratosis Congenita/genetics
Female
Genetic Testing
Humans
Infant
Male
Middle Aged
Mutation
Nuclear Proteins/genetics
RNA/genetics
Telomerase/genetics
Telomere Shortening/genetics
Telomere-Binding Proteins/genetics
Telomere/genetics
Young Adult
Źródło :
Norberg, A, Rosén, A, Raaschou-Jensen, K, Kjeldsen, L, Moilanen, J S, Paulsson-Karlsson, Y, Baliakas, P, Lohi, O, Ahmed, A, Kittang, A O, Larsson, P, Roos, G, Degerman, S & Hultdin, M 2018, ' Novel variants in Nordic patients referred for genetic testing of telomere-related disorders ', European Journal of Human Genetics, vol. 26, no. 6, pp. 858–867 . https://doi.org/10.1038/s41431-018-0112-8
Tytuł :
GLI2 promoter hypermethylation in saliva of children with a respiratory allergy
Autorzy :
Langie, Sabine A. S.
Moisse, Matthieu
Szarc vel Szic, Katarzyna
Van Der Plas, Ellen
Koppen, Gudrun
De Prins, Sofie
Louwies, Tijs
Nelen, Vera
Van Camp, Guy
Lambrechts, Diether
Schoeters, Greet
Vanden Berghe, Wim
De Boever, Patrick
Pokaż więcej
Temat :
Zinc Finger Protein Gli2/genetics
Saliva/chemistry
Research
QH426-470
Respiratory allergy
Genetics
Nuclear Proteins/genetics
Female
Belgium
Child, Preschool
Case-Control Studies
Illumina Methylation 450K BeadChip
Epigenesis, Genetic
Medicine
DNA methylation
Saliva
Respiratory Hypersensitivity/genetics
CpG Islands
Promoter Regions, Genetic
Genome-Wide Association Study
Humans
GLI2
Human medicine
Male
Child
Longitudinal Studies
Źródło :
Langie, S A S, Moisse, M, Szarc Vel Szic, K, Van Der Plas, E, Koppen, G, De Prins, S, Louwies, T, Nelen, V, Van Camp, G, Lambrechts, D, Schoeters, G, Vanden Berghe, W & De Boever, P 2018, ' GLI2 promoter hypermethylation in saliva of children with a respiratory allergy ', Clinical Epigenetics (Print), vol. 10, 50 . https://doi.org/10.1186/s13148-018-0484-1
Clinical Epigenetics, Vol 10, Iss 1, Pp 1-13 (2018)
Opis pliku :
application/pdf
Tytuł :
Regulation of the interaction between the neuronal BIN1 isoform 1 and Tau proteins - role of the SH3 domain
Autorzy :
Malki, Idir
Cantrelle, François-Xavier
Sottejeau, Yoann
Lippens, Guy
Lambert, Jean-Charles
Landrieu, Isabelle
Pokaż więcej
Temat :
MESH: Adaptor Proteins, Signal Transducing/chemistry
MESH: Adaptor Proteins, Signal Transducing/genetics
MESH: Kinetics
MESH: Models, Molecular
MESH: Neurons/chemistry
MESH: Neurons/metabolism
MESH: Nuclear Magnetic Resonance, Biomolecular
MESH: Nuclear Proteins/chemistry
MESH: Nuclear Proteins/genetics
MESH: Nuclear Proteins/metabolism
MESH: Peptides/chemistry
MESH: Peptides/genetics
MESH: Adaptor Proteins, Signal Transducing/metabolism
MESH: Peptides/metabolism
MESH: Protein Binding
MESH: Protein Conformation, alpha-Helical
MESH: Protein Conformation, beta-Strand
MESH: Protein Interaction Domains and Motifs
MESH: Protein Isoforms/chemistry
MESH: Protein Isoforms/genetics
MESH: Protein Isoforms/metabolism
MESH: Recombinant Proteins/chemistry
MESH: Recombinant Proteins/genetics
MESH: Amino Acid Motifs
MESH: Recombinant Proteins/metabolism
MESH: Sequence Alignment
MESH: Sequence Homology, Amino Acid
MESH: Tumor Suppressor Proteins/chemistry
MESH: Tumor Suppressor Proteins/genetics
MESH: Tumor Suppressor Proteins/metabolism
MESH: tau Proteins/chemistry
MESH: tau Proteins/genetics
MESH: tau Proteins/metabolism
MESH: Binding Sites
MESH: Cloning, Molecular
MESH: Escherichia coli/genetics
MESH: Escherichia coli/metabolism
MESH: Gene Expression
MESH: Humans
[SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology
Źródło :
FEBS Journal, Wiley, 2017, 284 (19), pp.3218 - 3229. ⟨10.1111/febs.14185⟩
Tytuł :
Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness
Autorzy :
Willems, Sara M.
Wright, Daniel J.
Day, Felix R.
Trajanoska, Katerina
Joshi, Peter K.
Morris, John A.
Matteini, Amy M.
Garton, Fleur C.
Grarup, Niels
Oskolkov, Nikolay
Thalamuthu, Anbupalam
Mangino, Massimo
Liu, Jun
Demirkan, Ayse
Lek, Monkol
Xu, Liwen
Wang, Guan
Oldmeadow, Christopher
Gaulton, Kyle J.
Lotta, Luca A.
Miyamoto-Mikami, Eri
Rivas, Manuel A.
White, Tom
Loh, Po Ru
Aadahl, Mette
Amin, Najaf
Attia, John R.
Austin, Krista
Benyamin, Beben
Brage, Søren
Cheng, Yu Ching
Ciȩszczyk, Paweł
Derave, Wim
Eriksson, Karl Fredrik
Eynon, Nir
Linneberg, Allan
Lucia, Alejandro
Massidda, Myosotis
Mitchell, Braxton D.
Miyachi, Motohiko
Murakami, Haruka
Padmanabhan, Sandosh
Pandey, Ashutosh
Papadimitriou, Ioannis
Rajpal, Deepak K.
Sale, Craig
Schnurr, Theresia M.
Sessa, Francesco
Shrine, Nick
Hansen, Torben
Pokaż więcej
Temat :
Actins/genetics
Adult
Aged
Cohort Studies
European Continental Ancestry Group/genetics
Female
Genetic Loci
Genetics, Population
Genome-Wide Association Study
Hand Strength
Hand/physiology
Humans
Male
Membrane Proteins/genetics
Middle Aged
Neoplasm Proteins/genetics
Nuclear Proteins/genetics
Polymorphism, Single Nucleotide
Repressor Proteins/genetics
Transforming Growth Factor alpha/genetics
United Kingdom
Źródło :
Willems, S M, Wright, D J, Day, F R, Trajanoska, K, Joshi, P K, Morris, J A, Matteini, A M, Garton, F C, Grarup, N, Oskolkov, N, Thalamuthu, A, Mangino, M, Liu, J, Demirkan, A, Lek, M, Xu, L, Wang, G, Oldmeadow, C, Gaulton, K J, Lotta, L A, Miyamoto-Mikami, E, Rivas, M A, White, T, Loh, P R, Aadahl, M, Amin, N, Attia, J R, Austin, K, Benyamin, B, Brage, S, Cheng, Y C, Ciȩszczyk, P, Derave, W, Eriksson, K F, Eynon, N, Linneberg, A, Lucia, A, Massidda, M, Mitchell, B D, Miyachi, M, Murakami, H, Padmanabhan, S, Pandey, A, Papadimitriou, I, Rajpal, D K, Sale, C, Schnurr, T M, Sessa, F, Shrine, N, Hansen, T & GEFOS Anytype of Fracture Consortium 2017, ' Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness ', Nature Communications, vol. 8, 16015 . https://doi.org/10.1038/ncomms16015
Opis pliku :
application/pdf
Tytuł :
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
Autorzy :
Lardelli, Rea M.
Schaffer, Ashleigh E.
Eggens, Veerle R C
Zaki, Maha S.
Grainger, Stephanie
Sathe, Shashank
Van Nostrand, Eric L.
Schlachetzki, Zinayida
Rosti, Basak
Akizu, Naiara
Scott, Eric
Silhavy, Jennifer L.
Heckman, Laura Dean
Rosti, Rasim Ozgur
Dikoglu, Esra
Gregor, Anne
Guemez-Gamboa, Alicia
Musaev, Damir
Mande, Rohit
Widjaja, Ari
Shaw, Tim L.
Markmiller, Sebastian
Marin-Valencia, Isaac
Davies, Justin H.
De Meirleir, Linda
Kayserili, Hulya
Altunoglu, Umut
Freckmann, Mary Louise
Warwick, Linda
Chitayat, David
Blaser, Susan
Ça Layan, Ahmet Okay
Bilguvar, Kaya
Per, Huseyin
Fagerberg, Christina
Christesen, Henrik Boye Thybo
Kibæk, Maria
Aldinger, Kimberly A.
Manchester, David
Matsumoto, Naomichi
Muramatsu, Kazuhiro
Saitsu, Hirotomo
Shiina, Masaaki
Ogata, Kazuhiro
Foulds, Nicola
Dobyns, William B
Chi, Neil C.
Traver, David
Spaccini, Luigina
Bova, Stefania Maria
Gabriel, Stacey B
Gunel, Murat
Valente, Enza Maria
Nassogne, Marie Cecile
Bennett, Eric J.
Yeo, Gene W.
Baas, Frank
Lykke-Andersen, Jens
Gleeson, Joseph G
Pokaż więcej
Temat :
Alleles
Animals
Cerebellar Diseases/genetics
Exonucleases/genetics
Female
Humans
Male
Mice
Mutation/genetics
Neurodegenerative Diseases/genetics
Nuclear Proteins/genetics
RNA, Messenger/genetics
RNA, Small Nuclear/genetics
Spliceosomes/genetics
Zebrafish
Źródło :
Lardelli, R M, Schaffer, A E, Eggens, V R C, Zaki, M S, Grainger, S, Sathe, S, Van Nostrand, E L, Schlachetzki, Z, Rosti, B, Akizu, N, Scott, E, Silhavy, J L, Heckman, L D, Rosti, R O, Dikoglu, E, Gregor, A, Guemez-Gamboa, A, Musaev, D, Mande, R, Widjaja, A, Shaw, T L, Markmiller, S, Marin-Valencia, I, Davies, J H, De Meirleir, L, Kayserili, H, Altunoglu, U, Freckmann, M L, Warwick, L, Chitayat, D, Blaser, S, Ça Layan, A O, Bilguvar, K, Per, H, Fagerberg, C, Christesen, H B T, Kibæk, M, Aldinger, K A, Manchester, D, Matsumoto, N, Muramatsu, K, Saitsu, H, Shiina, M, Ogata, K, Foulds, N, Dobyns, W B, Chi, N C, Traver, D, Spaccini, L, Bova, S M, Gabriel, S B, Gunel, M, Valente, E M, Nassogne, M C, Bennett, E J, Yeo, G W, Baas, F, Lykke-Andersen, J & Gleeson, J G 2017, ' Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing ', Nature Genetics, vol. 49, no. 3, pp. 457-464 . https://doi.org/10.1038/ng.3762
Tytuł :
A genome-wide association study of anorexia nervosa.
Autorzy :
Boraska, Vesna
Franklin, Christopher S.
Floyd, James A. B.
Thornton, Laura M.
Huckins, Laura M.
Southam, Lorraine
Rayner, Nigel William
Tachmazidou, Ioanna
Klump, Kelly L.
Treasure, Janet
Lewis, Cathryn M.
Dedoussis, G.
Dikeos, D.
Gonidakis, F.
Tziouvas, K.
Tsitsika, A.
Papezova, H.
Slachtova, L.
Martaskova, D.
Kennedy, J. L.
Levitan, R. D.
Schmidt, U.
Yilmaz-Ergül, Zeynep
Huemer, J.
Koubek, D.
Merl, E.
Wagner, G.
Lichtenstein, P.
Breen, G.
Cohen-Woods, S.
Farmer, A.
McGuffin, P.
Tozzi, F.
Cichon, S.
Giegling, I.
Herms, S.
Rujescu, D.
Schreiber, S.
Wichmann, H.-E.
Dina, C.
Sladek, R.
Gambaro, G.
Soranzo, N.
Kiezebrink, K.
Julia, A.
Marsal, S.
Rabionet, R.
Gaborieau, V.
Dick, D. M.
Palotie, A.
Ripatti, S.
Widen, E.
Andreassen, O. A.
Espeseth, T.
Hebebrand, J.
Lundervold, A.
Reinvang, I.
Steen, V. M.
Le Hellard, S.
Mattingsdal, M.
Ntalla, I.
Bencko, V.
Foretova, L.
Janout, V.
Navratilova, M.
Gorwood, P.
Gallinger, S.
Pinto, D.
Scherer, S. W.
Aschauer, H.
Carlberg, L.
Schosser, A.
Alfredsson, L.
Ding, B.
Klareskog, L.
Padyukov, L.
Adan, R. A. H.
Courtet, P.
Guillaume, S.
Jaussent, I.
Finan, C.
Kalsi, G.
Roberts, M.
Logan, D. W.
Peltonen, L.
Ritchie, G. R. S.
Barrett, J. C.
Kas, M. J. H.
Estivill, X.
Hinney, A.
Sullivan, P. F.
Collier, D. A.
Zeggini, E.
Bulik, C. M.
Favaro, A.
Santonastaso, P.
Fernandez-Aranda, F.
Gratacos, M.
Rybakowski, F.
Dmitrzak-Weglarz, M.
Kaprio, J.
Keski-Rahkonen, A.
Raevuori, A.
Van Furth, E. F.
Slof-Op 't Landt, M. C. T.
Hudson, J. I.
Reichborn-Kjennerud, T.
Knudsen, G. P. S.
Monteleone, P.
Kaplan, A. S.
Karwautz, A.
Hakonarson, H.
Berrettini, W. H.
Guo, Y.
Li, D.
Schork, N. J.
Komaki, G.
Ando, T.
Inoko, H.
Esko, T.
Fischer, K.
Mannik, Katrin
Metspalu, A.
Baker, J. H.
Cone, R. D.
Dackor, J.
DeSocio, J. E.
Hilliard, C. E.
O'Toole, J. K.
Pantel, J.
Szatkiewicz, J. P.
Taico, C.
Zerwas, S.
Trace, S. E.
Davis, O. S. P.
Helder, S.
Buhren, K.
Burghardt, R.
de Zwaan, M.
Egberts, K.
Ehrlich, S.
Herpertz-Dahlmann, B.
Herzog, W.
Imgart, H.
Scherag, A.
Scherag, S.
Zipfel, S.
Boni, C.
Ramoz, N.
Versini, A.
Brandys, M. K.
Danner, U. N.
de Kovel, C.
Hendriks, J.
Koeleman, B. P. C.
Ophoff, R. A.
Strengman, E.
van Elburg, Anne-Marie A.
Bruson, Alice
Clementi, Maurizio
Degortes, Daniela
Forzan, Monica
Tenconi, Elodie
Docampo Martinez, Elisa
Escaramis, Geòrgia
Jimenez-Murcia, Susana
Lissowska, Jolanta
Rajewski, Andrzej
Szeszenia-Dabrowska, Neonila
Slopien, Agnieszka
Hauser, Joanna
Karhunen, Leila
Meulenbelt, Ingrid
Slagboom, P. E.
Tortorella, Alfonso
Maj, Mario
Pokaż więcej
Temat :
Anorexia Nervosa/genetics
Asian Continental Ancestry Group/genetics
Calcineurin/genetics
Carrier Proteins/genetics
Case-Control Studies
Cullin Proteins/genetics
European Continental Ancestry Group/genetics
Female
Genome-Wide Association Study
Guanine Nucleotide Exchange Factors/genetics
Humans
Japan
Male
Meta-Analysis as Topic
Nuclear Proteins/genetics
Polymorphism, Single Nucleotide
Genetics & genetic processes [Life sciences]
Génétique & processus génétiques [Sciences du vivant]
Źródło :
A genome-wide association study of anorexia nervosa. Molecular Psychiatry, 19(10), 1085-94., United Kingdom. (2014).

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