Výsledky vyhledávání - "Proteins/*genetics"

Age-associated differences in the human lung extracellular matrix

Autor: M.L. Koloko Ngassie, M. De Vries, T. Borghuis, W. Timens, Don D. Sin, D. Nickle, P. Joubert, P. Horvatovich, G. Marko-Varga, J.J. Teske, J.M. Vonk, R. Gosens, Y.S. Prakash, J.K. Burgess, C.A. Brandsma

Publikováno v: American Journal of Physiology - Lung Cellular and Molecular Physiology. 324(6):799-814

IntroductionExtracellular matrix (ECM) remodelling has been associated with chronic lung diseases. However, information about specific age-associated differences in lung ECM is currently limited. In this study we aimed to identify and localize age-as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4486ec0619ed5676ca69dd4c11d78c9
https://research.rug.nl/en/publications/39666b6b-f667-48f7-adba-afffa8bf1432

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Akademický článek

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Nanobody-driven signaling reveals the core receptor complex in root nodule symbiosis

Autor: Henriette Rübsam, Christina Krönauer, Nikolaj B. Abel, Hongtao Ji, Damiano Lironi, Simon B. Hansen, Marcin Nadzieja, Marie V. Kolte, Dörte Abel, Noor de Jong, Lene H. Madsen, Huijun Liu, Jens Stougaard, Simona Radutoiu, Kasper R. Andersen

Publikováno v: Rübsam, H, Krönauer, C, Abel, N B, Ji, H, Lironi, D, Hansen, S B, Nadzieja, M, Kolte, M V, Abel, D, de Jong, N, Madsen, L H, Liu, H, Stougaard, J, Radutoiu, S & Andersen, K R 2023, ' Nanobody-driven signaling reveals the core receptor complex in root nodule symbiosis ', Science (New York, N.Y.), vol. 379, no. 6629, pp. 272-277 . https://doi.org/10.1126/science.ade9204

Understanding the composition and activation of multicomponent receptor complexes is a challenge in biology. To address this, we developed a synthetic approach based on nanobodies to drive assembly and activation of cell surface receptors and apply t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3a8cf4dbe9b3a3b603a7f52033825f0
https://doi.org/10.1126/science.ade9204

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Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders

Autor: Sunwoo Lee, Eguzkine Ochoa, Katy Barwick, Laura Cif, Fay Rodger, France Docquier, Belén Pérez-Dueñas, Graeme Clark, Ezequiel Martin, Siddharth Banka, Manju A Kurian, Eamonn R Maher

Publikováno v: Lee, S, Ochoa, E, Barwick, K, Cif, L, Rodger, F, Docquier, F, Pérez-Dueñas, B, Clark, G, Martin, E, Banka, S, Kurian, M A & Maher, E R 2022, ' Comparison of methylation episignatures in KMT2B-and KMT2D-related human disorders ', Epigenomics, vol. 14, no. 9, pp. 537-547 . https://doi.org/10.2217/epi-2021-0521

Funder: Rosetrees Trust
Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (DYT-KMT2B), the authors undertook genome-wide methylation profiling of ∼2 M CpGs using a next-generation sequencing-bas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccf229903498c46877d55b19286b6b60
https://doi.org/10.2217/epi-2021-0521

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Isoform-specific patterns of tau burden and neuronal degeneration in MAPT-associated frontotemporal lobar degeneration

Autor: Giannini, Lucia A A, Ohm, Daniel T, Rozemuller, Annemieke J M, Dratch, Laynie, Suh, EunRan, van Deerlin, Vivianna M, Trojanowski, John Q, Lee, Edward B, van Swieten, John C, Grossman, Murray, Seelaar, Harro, Irwin, David J

Publikováno v: Netherlands Brain Bank 2022, ' Isoform-specific patterns of tau burden and neuronal degeneration in MAPT-associated frontotemporal lobar degeneration ', Acta Neuropathologica, vol. 144, no. 6, pp. 1065-1084 . https://doi.org/10.1007/s00401-022-02487-4
Acta Neuropathologica, 144(6), 1065-1084. Springer-Verlag
Acta Neuropathologica, 144(6), 1065-1084. Springer Verlag
Acta Neuropathologica, 144(6), 1065-1084. Springer Verlag GmbH

Frontotemporal lobar degeneration with MAPT pathogenic variants (FTLD-MAPT) has heterogeneous tau pathological inclusions postmortem, consisting of three-repeat (3R) or four-repeat (4R) tau isoforms, or a combination (3R + 4R). Here, we studied grey

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33f31133fc9ce8be66b3aaeb24aa2696
https://doi.org/10.1007/s00401-022-02487-4

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Joint Genetic Inhibition of PCSK9 and CETP and the Association With Coronary Artery Disease

Autor: Arjen J. Cupido, Laurens F. Reeskamp, Aroon D. Hingorani, Chris Finan, Folkert W. Asselbergs, G. Kees Hovingh, Amand F. Schmidt

Publikováno v: JAMA cardiology, 7(9), 955-964. American Medical Association

IMPORTANCE: Cholesteryl ester transfer protein inhibition (CETP) has been shown to increase levels of high-density lipoprotein cholesterol (HDL-C) and reduce levels of low-density lipoprotein cholesterol (LDL-C). Current LDL-C target attainment is lo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72d12369f3c3f80b686ac245eef5ecf1
http://www.scopus.com/inward/record.url?scp=85136248359&partnerID=8YFLogxK

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agaGlobal gene expression analysis of Streptococcus agalactiae at the exponential growth phase

Autor: Silvestre I, Sílvia Duarte, Sobral R, Luís Vieira, Alexandra Nunes, João Paulo Gomes, Borges, Maria José Borrego

Publikováno v: Cellular and Molecular Biology. 68:1-8

Streptococcus agalactiae is a leading cause of neonatal infections and an increasing cause of infections in adults with underlying diseases. One of the first S. agalactiae isolates to be subjected to whole genome sequencing was NEM316, a strain respo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fa73103258050b7026f0940d527e5ad
https://doi.org/10.14715/cmb/2022.68.7.1

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Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

Autor: Oddsson, Asmundur, Sulem, Patrick, Sveinbjornsson, Gardar, Arnadottir, Gudny A, Steinthorsdottir, Valgerdur, Halldorsson, Gisli H, Atlason, Bjarni A, Oskarsson, Gudjon R, Helgason, Hannes, Nielsen, Henriette Svarre, Westergaard, David, Karjalainen, Juha M, Katrinardottir, Hildigunnur, Fridriksdottir, Run, Jensson, Brynjar O, Tragante, Vinicius, Ferkingstad, Egil, Jonsson, Hakon, Gudjonsson, Sigurjon A, Beyter, Doruk, Moore, Kristjan H S, Thordardottir, Helga B, Kristmundsdottir, Snaedis, Stefansson, Olafur A, Rantapää-Dahlqvist, Solbritt, Sonderby, Ida Elken, Didriksen, Maria, Stridh, Pernilla, Haavik, Jan, Tryggvadottir, Laufey, Frei, Oleksandr, Walters, G Bragi, Kockum, Ingrid, Hjalgrim, Henrik, Olafsdottir, Thorunn A, Selbaek, Geir, Nyegaard, Mette, Erikstrup, Christian, Brodersen, Thorsten, Saevarsdottir, Saedis, Olsson, Tomas, Nielsen, Kaspar Rene, Haraldsson, Asgeir, Bruun, Mie Topholm, Hansen, Thomas Folkmann, Steingrimsdottir, Thora, Jacobsen, Rikke Louise, Lie, Rolv T, Djurovic, Srdjan, Alfredsson, Lars, Lopez de Lapuente Portilla, Aitzkoa, Brunak, Soren, Melsted, Pall, Halldorsson, Bjarni V, Saemundsdottir, Jona, Magnusson, Olafur Th, Padyukov, Leonid, Banasik, Karina, Rafnar, Thorunn, Askling, Johan, Klareskog, Lars, Pedersen, Ole Birger, Masson, Gisli, Havdahl, Alexandra, Nilsson, Bjorn, Andreassen, Ole A, Daly, Mark, Ostrowski, Sisse Rye, Jonsdottir, Ingileif, Stefansson, Hreinn, Holm, Hilma, Helgason, Agnar, Thorsteinsdottir, Unnur, Stefansson, Kari, Gudbjartsson, Daniel F

Publikováno v: Oddsson, A, Sulem, P, Sveinbjornsson, G, Arnadottir, G A, Steinthorsdottir, V, Halldorsson, G H, Atlason, B A, Oskarsson, G R, Helgason, H, Nielsen, H S, Westergaard, D, Karjalainen, J M, Katrinardottir, H, Fridriksdottir, R, Jensson, B O, Tragante, V, Ferkingstad, E, Jonsson, H, Gudjonsson, S A, Beyter, D, Moore, K H S, Thordardottir, H B, Kristmundsdottir, S, Stefansson, O A, Rantapää-Dahlqvist, S, Sonderby, I E, Didriksen, M, Stridh, P, Haavik, J, Tryggvadottir, L, Frei, O, Walters, G B, Kockum, I, Hjalgrim, H, Olafsdottir, T A, Selbaek, G, Nyegaard, M, Erikstrup, C, Brodersen, T, Saevarsdottir, S, Olsson, T, Nielsen, K R, Haraldsson, A, Bruun, M T, Hansen, T F, DBDS Genomic Consortium, Steingrimsdottir, T, Jacobsen, R L, Lie, R T, Djurovic, S, Alfredsson, L, Lopez de Lapuente Portilla, A, Brunak, S, Melsted, P, Halldorsson, B V, Saemundsdottir, J, Magnusson, O T, Padyukov, L, Banasik, K, Rafnar, T, Askling, J, Klareskog, L, Pedersen, O B, Masson, G, Havdahl, A, Nilsson, B, Andreassen, O A, Daly, M, Ostrowski, S R, Jonsdottir, I, Stefansson, H, Holm, H, Helgason, A, Thorsteinsdottir, U, Stefansson, K & Gudbjartsson, D F 2023, ' Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality ', Nature Communications, vol. 14, no. 1, 3453 . https://doi.org/10.1038/s41467-023-38951-2

Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with deficit of homozygosity among

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1266::374935cbc9fc6b65f251eb1881130c9f
https://vbn.aau.dk/ws/files/534278535/s41467_023_38951_2.pdf

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