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


Tytuł :
Age-Related Macular Degeneration: A Disease of Systemic or Local Complement Dysregulation?
Autorzy :
Alasdair Warwick
Samir Khandhadia
Sarah Ennis
Andrew Lotery
Pokaż więcej
Temat :
age-related macular degeneration
complement pathway
complement system proteins/genetics
pathway analysis
proteomics
Medicine
Źródło :
Journal of Clinical Medicine, Vol 3, Iss 4, Pp 1234-1257 (2014)
Opis pliku :
electronic resource
Relacje :
http://www.mdpi.com/2077-0383/3/4/1234; https://doaj.org/toc/2077-0383
Dostęp URL :
https://doaj.org/article/f56bdf71c99a44009ebc924ee482140b
Czasopismo naukowe
Tytuł :
Discovery of an RmlC/D fusion protein in the microalga Prymnesium parvum and its implications for NDP-β-l-rhamnose biosynthesis in microalgae
Autorzy :
Wagstaff, Ben A
Rejzek, Martin
Kuhaudomlarp, Sakonwan
Hill, Lionel
Mascia, Ilaria
Nepogodiev, Sergey A
Dorfmueller, Helge C
Field, Robert A
Pokaż więcej
Temat :
Algal Proteins/genetics
Carbohydrate Epimerases/classification
Haptophyta/metabolism
Phylogeny
Plastids/metabolism
Recombinant Fusion Proteins/genetics
Rhamnose/biosynthesis
Symbiosis
Źródło :
Wagstaff, B A, Rejzek, M, Kuhaudomlarp, S, Hill, L, Mascia, I, Nepogodiev, S A, Dorfmueller, H C & Field, R A 2019, ' Discovery of an RmlC/D fusion protein in the microalga Prymnesium parvum and its implications for NDP-β-l-rhamnose biosynthesis in microalgae ', Journal of Biological Chemistry, vol. 294, no. 23, pp. 9172-9185 . https://doi.org/10.1074/jbc.RA118.006440
Tytuł :
Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis
Autorzy :
Lees, John A
Ferwerda, Bart
Wheeler, Nicole E
Croucher, Nicholas J
Trzciński, Krzysztof
Zwinderman, Aeilko H
Van Rheenen, Wouter
Harboe, Zitta B
De Groot, Lisette CPGM
Ängquist, Lars H
Sørensen, Thorkild IA
Mentzer, Alexander J
Knight, Julian C
Du Plessis, Mignon
Weiser, Jeffrey N
Parkhill, Julian
Benfield, Thomas
Barrett, Jeffrey C
Van De Beek, Diederik
Kremer, Philip HC
Serón, Mercedes Valls
Gladstone, Rebecca A
Bootsma, Hester J
Rots, Nynke Y
Wijmega-Monsuur, Alienke J
Sanders, Elisabeth AM
Wyllie, Anne L
Van Den Berg, Leonard H
Veldink, Jan H
Lundbo, Lene F
Van Schoor, Natasja M
Van Der Velde, Nathalie
Nohr, Ellen A
Mills, Tara C
Nzenze, Susan
Madhi, Shabir
Von Gottberg, Anne
Van Der Ende, Arie
Brouwer, Matthijs C
Bentley, Stephen D
Pokaż więcej
Temat :
Bacterial Proteins
Streptococcus pneumoniae/genetics
Genome, Human/genetics
immunogenetics
Research Support, Non-U.S. Gov't
Bacterial Proteins/genetics
Host-Pathogen Interactions
Proteins
Female
Meningitis, Pneumococcal/genetics
Genome, Human
Aged
bacterial genes
Genetic Variation
Middle Aged
Host-Pathogen Interactions/genetics
Proteins/genetics
bacterial infection
Article
Genome, Bacterial/genetics
Genome, Bacterial
Prospective Studies
Genome-Wide Association Study
Science
Journal Article
Genetic Predisposition to Disease
Adult
genome-wide association studies
Humans
Streptococcus pneumoniae
Male
Meningitis, Pneumococcal
Źródło :
Lees, J A, Ferwerda, B, Kremer, P H C, Wheeler, N E, Seron, M V, Croucher, N J, Gladstone, R A, Bootsma, H J, Rots, N Y, Wijmega-Monsuur, A J, Sanders, E A M, Trzcinski, K, Wyllie, A L, Zwinderman, A H, van den Berg, L H, van Rheenen, W, Veldink, J H, Harboe, Z B, Lundbo, L F, de Groot, L C P G M, van Schoor, N M, van der Velde, N, Angquist, L H, Sørensen, T I A, Nohr, E A, Mentzer, A J, Mills, T C, Knight, J C, du Plessis, M, Nzenze, S, Weiser, J N, Parkhill, J, Madhi, S, Benfield, T, von Gottberg, A, van der Ende, A, Brouwer, M C, Barrett, J C, Bentley, S D & van de Beek, D 2019, ' Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis ', Nature Communications, vol. 10, 2176 . https://doi.org/10.1038/s41467-019-09976-3
Lees, J A, Ferwerda, B, Kremer, P H C, Wheeler, N E, Serón, M V, Croucher, N J, Gladstone, R A, Bootsma, H J, Rots, N Y, Wijmega-Monsuur, A J, Sanders, E A M, Trzciński, K, Wyllie, A L, Zwinderman, A H, van den Berg, L H, van Rheenen, W, Veldink, J H, Harboe, Z B, Lundbo, L F, de Groot, L C P G M, van Schoor, N M, van der Velde, N, Ängquist, L H, Sørensen, T I A, Nohr, E A, Mentzer, A J, Mills, T C, Knight, J C, du Plessis, M, Nzenze, S, Weiser, J N, Parkhill, J, Madhi, S, Benfield, T, von Gottberg, A, van der Ende, A, Brouwer, M C, Barrett, J C, Bentley, S D & van de Beek, D 2019, ' Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis ', Nature Communications, vol. 10, 2176 . https://doi.org/10.1038/s41467-019-09976-3
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Opis pliku :
Electronic; application/pdf
Tytuł :
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
Autorzy :
Florian, Rahel
Kraft, Florian
Leitão, Elsa
Kaya, Sabine
Klebe, Stephan
Magnin, Eloi
van Rootselaar, Anne-Fleur
Buratti, Julien
Kühnel, Theresa
Schröder, Christopher
Giesselmann, Sebastian
Tschernoster, Nikolai
Altmueller, Janine
Lamiral, Anaide
Keren, Boris
Nava, Caroline
Bouteiller, Delphine
Forlani, Sylvie
Jornea, Ludmila
Kubica, Regina
Ye, Tao
Plassard, Damien
Jost, Bernard
Meyer, Vincent
Deleuze, Jean-François
Delpu, Yannick
Avarello, Mario
Vijfhuizen, Lisanne
Rudolf, Gabrielle
Hirsch, Edouard
Kroes, Thessa
Reif, Philipp
Rosenow, Felix
Ganos, Christos
Vidailhet, Marie
Thivard, Lionel
Mathieu, Alexandre
Bourgeron, Thomas
Kurth, Ingo
Rafehi, Haloom
Steenpass, Laura
Horsthemke, Bernhard
Leguern, Eric
Klein, Karl Martin
Labauge, Pierre
Bennett, Mark
Bahlo, Melanie
Gecz, Jozef
Corbett, Mark
Tijssen, Marina
Van Den Maagdenberg, Arn
Depienne, Christel
Pokaż więcej
Temat :
Neurodegenerative diseases
Genomic instability
Neurological disorders
Epilepsy
MESH: Adolescent
MESH: Adult
MESH: Ubiquitin-Protein Ligases/genetics
MESH: Young Adult
MESH: Aged
MESH: Chromosome Mapping
MESH: DNA Repeat Expansion
MESH: Epilepsies, Myoclonic/genetics
MESH: Female
MESH: Humans
MESH: Introns
MESH: Male
MESH: Membrane Proteins/genetics
MESH: Middle Aged
MESH: Pedigree
[SDV.GEN]Life Sciences [q-bio]/Genetics
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Źródło :
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Tytuł :
The pore structure of Clostridium perfringens epsilon toxin
Autorzy :
Savva, Christos
Clark, Alice
Naylor, Claire
Popoff, Michel
Moss, David
Basak, Ajit
Titball, Richard
Bokori-Brown, Monika
Pokaż więcej
Temat :
Cryoelectron microscopy
Bacterial toxins
MESH: Animals
MESH: Bacterial Toxins/chemistry
MESH: Recombinant Proteins/metabolism
MESH: Bacterial Toxins/isolation & purification
MESH: Clostridium perfringens/metabolism
MESH: Bacterial Toxins/metabolism
MESH: Biotechnology/methods
MESH: Cell Line
MESH: Clostridium Infections/microbiology
MESH: Clostridium Infections/prevention & control
MESH: Clostridium perfringens/genetics
MESH: Clostridium perfringens/pathogenicity
MESH: Mutagenesis, Site-Directed
MESH: Clostridium perfringens/ultrastructure
MESH: Cryoelectron Microscopy
MESH: Dogs
MESH: Enterotoxemia/microbiology
MESH: Enterotoxemia/prevention & control
MESH: Models, Molecular
MESH: Nanotechnology/methods
MESH: Bacterial Toxins/genetics
MESH: Protein Conformation, beta-Strand/genetics
MESH: Protein Multimerization/genetics
MESH: Recombinant Proteins/chemistry
MESH: Recombinant Proteins/genetics
MESH: Recombinant Proteins/isolation & purification
[SDV]Life Sciences [q-bio]
[SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology
[SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology
[SDV.BC]Life Sciences [q-bio]/Cellular Biology
[SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC]
[SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB]
Źródło :
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.2641. ⟨10.1038/s41467-019-10645-8⟩
Tytuł :
Characterization of transgenic mouse models targeting neuromodulatory systems reveals organizational principles of the dorsal raphe
Autorzy :
Cardozo Pinto, D.F.
Yang, H.
Pollak Dorocic, I.
de Jong, J.W.
Han, V.J.
Peck, J.R.
Zhu, Y.
Liu, C.
Beier, K.T.
Smidt, M.P.
Lammel, S.
Pokaż więcej
Temat :
Animals
Dopaminergic Neurons/metabolism
Dorsal Raphe Nucleus/physiology
Mice
Mice, Transgenic
Models, Animal
Neural Pathways
Neurotransmitter Agents/genetics
Serotonergic Neurons/metabolism
Serotonin Plasma Membrane Transport Proteins/genetics
Źródło :
Nature Communications, 10. Nature Publishing Group
Opis pliku :
application/pdf
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 :
Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.
Autorzy :
Kilpeläinen, T.O.
Bentley, A.R.
Noordam, R.
Sung, Y.J.
Schwander, K.
Winkler, T.W.
Jakupović, H.
Chasman, D.I.
Manning, A.
Ntalla, I.
Aschard, H.
Brown, M.R.
de Las Fuentes, L.
Franceschini, N.
Guo, X.
Vojinovic, D.
Aslibekyan, S.
Feitosa, M.F.
Kho, M.
Musani, S.K.
Richard, M.
Wang, H.
Wang, Z.
Bartz, T.M.
Bielak, L.F.
Campbell, A.
Dorajoo, R.
Fisher, V.
Hartwig, F.P.
Horimoto, ARVR
Li, C.
Lohman, K.K.
Marten, J.
Sim, X.
Smith, A.V.
Tajuddin, S.M.
Alver, M.
Amini, M.
Boissel, M.
Chai, J.F.
Chen, X.
Divers, J.
Evangelou, E.
Gao, C.
Graff, M.
Harris, S.E.
He, M.
Hsu, F.C.
Jackson, A.U.
Zhao, J.H.
Kraja, A.T.
Kühnel, B.
Laguzzi, F.
Lyytikäinen, L.P.
Nolte, I.M.
Rauramaa, R.
Riaz, M.
Robino, A.
Rueedi, R.
Stringham, H.M.
Takeuchi, F.
van der Most, P.J.
Varga, T.V.
Verweij, N.
Ware, E.B.
Wen, W.
Li, X.
Yanek, L.R.
Amin, N.
Arnett, D.K.
Boerwinkle, E.
Brumat, M.
Cade, B.
Canouil, M.
Chen, Y.I.
Concas, M.P.
Connell, J.
de Mutsert, R.
de Silva, H.J.
de Vries, P.S.
Demirkan, A.
Ding, J.
Eaton, C.B.
Faul, J.D.
Friedlander, Y.
Gabriel, K.P.
Ghanbari, M.
Giulianini, F.
Gu, C.C.
Gu, D.
Harris, T.B.
He, J.
Heikkinen, S.
Heng, C.K.
Hunt, S.C.
Ikram, M.A.
Jonas, J.B.
Koh, W.P.
Komulainen, P.
Krieger, J.E.
Kritchevsky, S.B.
Kutalik, Z.
Kuusisto, J.
Langefeld, C.D.
Langenberg, C.
Launer, L.J.
Leander, K.
Lemaitre, R.N.
Lewis, C.E.
Liang, J.
Liu, J.
Mägi, R.
Manichaikul, A.
Meitinger, T.
Metspalu, A.
Milaneschi, Y.
Mohlke, K.L.
Mosley, T.H.
Murray, A.D.
Nalls, M.A.
Nang, E.K.
Nelson, C.P.
Nona, S.
Norris, J.M.
Nwuba, C.V.
O'Connell, J.
Palmer, N.D.
Papanicolau, G.J.
Pazoki, R.
Pedersen, N.L.
Peters, A.
Peyser, P.A.
Polasek, O.
Porteous, D.J.
Poveda, A.
Raitakari, O.T.
Rich, S.S.
Risch, N.
Robinson, J.G.
Rose, L.M.
Rudan, I.
Schreiner, P.J.
Scott, R.A.
Sidney, S.S.
Sims, M.
Smith, J.A.
Snieder, H.
Sofer, T.
Starr, J.M.
Sternfeld, B.
Strauch, K.
Tang, H.
Taylor, K.D.
Tsai, M.Y.
Tuomilehto, J.
Uitterlinden, A.G.
van der Ende, M.Y.
van Heemst, D.
Voortman, T.
Waldenberger, M.
Wennberg, P.
Wilson, G.
Xiang, Y.B.
Yao, J.
Yu, C.
Yuan, J.M.
Zhao, W.
Zonderman, A.B.
Becker, D.M.
Boehnke, M.
Bowden, D.W.
de Faire, U.
Deary, I.J.
Elliott, P.
Esko, T.
Freedman, B.I.
Froguel, P.
Gasparini, P.
Gieger, C.
Kato, N.
Laakso, M.
Lakka, T.A.
Lehtimäki, T.
Magnusson, PKE
Oldehinkel, A.J.
Penninx, BWJH
Samani, N.J.
Shu, X.O.
van der Harst, P.
Van Vliet-Ostaptchouk, J.V.
Vollenweider, P.
Wagenknecht, L.E.
Wang, Y.X.
Wareham, N.J.
Weir, D.R.
Wu, T.
Zheng, W.
Zhu, X.
Evans, M.K.
Franks, P.W.
Gudnason, V.
Hayward, C.
Horta, B.L.
Kelly, T.N.
Liu, Y.
North, K.E.
Pereira, A.C.
Ridker, P.M.
Tai, E.S.
van Dam, R.M.
Fox, E.R.
Kardia, SLR
Liu, C.T.
Mook-Kanamori, D.O.
Province, M.A.
Redline, S.
van Duijn, C.M.
Rotter, J.I.
Kooperberg, C.B.
Gauderman, W.J.
Psaty, B.M.
Rice, K.
Munroe, P.B.
Fornage, M.
Cupples, L.A.
Rotimi, C.N.
Morrison, A.C.
Rao, D.C.
Loos, RJF
Pokaż więcej
Temat :
lipids (amino acids, peptides, and proteins)
Adolescent
Adult
African Continental Ancestry Group/genetics
Aged
Aged, 80 and over
Asian Continental Ancestry Group/genetics
Brazil
Calcium-Binding Proteins/genetics
Cholesterol/blood
Cholesterol, HDL/blood
Cholesterol, HDL/genetics
Cholesterol, LDL/blood
Cholesterol, LDL/genetics
European Continental Ancestry Group/genetics
Exercise
Female
Genetic Loci/genetics
Genome-Wide Association Study
Genotype
Hispanic Americans/genetics
Humans
LIM-Homeodomain Proteins/genetics
Lipid Metabolism/genetics
Lipids/blood
Lipids/genetics
Male
Membrane Proteins/genetics
Microtubule-Associated Proteins/genetics
Middle Aged
Muscle Proteins/genetics
Nerve Tissue Proteins/genetics
Transcription Factors/genetics
Triglycerides/blood
Triglycerides/genetics
Young Adult
Źródło :
Nature communications, vol. 10, no. 1, pp. 376
Opis pliku :
application/pdf
Tytuł :
Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis
Autorzy :
Fadista, João
Skotte, Line
Geller, Frank
Bybjerg-Grauholm, Jonas
Gørtz, Sanne
Romitti, Paul A
Caggana, Michele
Kay, Denise M
Matsson, Hans
Boyd, Heather A
Hougaard, David M
Nordenskjöld, Agneta
Mills, James L
Melbye, Mads
Feenstra, Bjarke
Pokaż więcej
Temat :
Pyloric Stenosis, Hypertrophic/genetics
Serine Endopeptidases/genetics
Meta-Analysis
Infant, Newborn
Cell Cycle Proteins/genetics
Infant
Research Support, Non-U.S. Gov't
Microtubule-Associated Proteins/genetics
Research Support, N.I.H., Extramural
Genome-Wide Association Study
Polymorphism, Single Nucleotide
Cohort Studies
Transcription Factors/genetics
Journal Article
Genetic Predisposition to Disease
Humans
Neoplasm Proteins/genetics
Homeodomain Proteins/genetics
Case-Control Studies
Źródło :
Fadista, J, Skotte, L, Geller, F, Bybjerg-Grauholm, J, Gørtz, S, Romitti, P A, Caggana, M, Kay, D M, Matsson, H, Boyd, H A, Hougaard, D M, Nordenskjöld, A, Mills, J L, Melbye, M & Feenstra, B 2019, ' Genome-wide meta-analysis identifies BARX 1 and EML 4 -MTA 3 as new loci associated with infantile hypertrophic pyloric stenosis ', Human Molecular Genetics, vol. 28, no. 2, pp. 332-340 . https://doi.org/10.1093/hmg/ddy347
Opis pliku :
application/pdf
Tytuł :
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Autorzy :
Pizzo, Lucilla
Jensen, Matthew
Polyak, Andrew
Rosenfeld, Jill A.
Mannik, Katrin
Krishnan, Arjun
McCready, Elizabeth
Pichon, Olivier
Le Caignec, Cedric
Van Dijck, Anke
Pope, Kate
Voorhoeve, Els
Yoon, Jieun
Stankiewicz, Paweł
Cheung, Sau Wai
Pazuchanics, Damian
Huber, Emily
Kumar, Vijay
Kember, Rachel L.
Mari, Francesca
Curró, Aurora
Castiglia, Lucia
Galesi, Ornella
Avola, Emanuela
Mattina, Teresa
Fichera, Marco
Mandarà, Luana
Vincent, Marie
Nizon, Mathilde
Mercier, Sandra
Bénéteau, Claire
Blesson, Sophie
Martin-Coignard, Dominique
Mosca-Boidron, Anne-Laure
Caberg, Jean-Hubert
Bucan, Maja
Zeesman, Susan
Nowaczyk, Małgorzata J. M.
Lefebvre, Mathilde
Faivre, Laurence
Callier, Patrick
Skinner, Cindy
Keren, Boris
Perrine, Charles
Prontera, Paolo
Marle, Nathalie
Renieri, Alessandra
Reymond, Alexandre
Kooy, R. Frank
Isidor, Bertrand
Schwartz, Charles
Romano, Corrado
Sistermans, Erik
Amor, David J.
Andrieux, Joris
Girirajan, Santhosh
Pokaż więcej
Temat :
Biology
phenotypic variability
16p11.2 deletion
autism
CNV
modifier
Genetics (clinical)
Autistic Disorder
Cell Adhesion Molecules, Neuronal
Chromosomes, Human, Pair 16
Cognition
DNA Copy Number Variations
Female
Gene Expression Regulation
Genetic Background
Humans
Male
Methyltransferases
Nerve Tissue Proteins
Parents
Pedigree
Phenotype
Proteins
Sequence Deletion
Siblings
Genetic Carrier Screening
Autistic Disorder/genetics
Autistic Disorder/physiopathology
Cell Adhesion Molecules, Neuronal/genetics
Chromosomes, Human, Pair 16/genetics
Cognition/physiology
DNA Copy Number Variations/genetics
Gene Expression Regulation/genetics
Methyltransferases/genetics
Nerve Tissue Proteins/genetics
Proteins/genetics
Sequence Deletion/genetics
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Human medicine
Article
Źródło :
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-018-0266-3⟩
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, vol. 21, no. 4, pp. 816-825
Opis pliku :
pdf; application/pdf

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