Výsledky vyhledávání - "Glycoproteins/*genetics"

Expression profile of synaptic vesicle glycoprotein 2A, B, and C paralogues in temporal neocortex tissue from patients with temporal lobe epilepsy (TLE)

Autor: Burcu A. Pazarlar, Sanjay S. Aripaka, Viktor Petukhov, Lars Pinborg, Konstantin Khodosevich, Jens D. Mikkelsen

Publikováno v: Pazarlar, B A, Aripaka, S S, Petukhov, V, Pinborg, L, Khodosevich, K & Mikkelsen, J D 2022, ' Expression profile of synaptic vesicle glycoprotein 2A, B, and C paralogues in temporal neocortex tissue from patients with temporal lobe epilepsy (TLE) ', Molecular Brain, vol. 15, no. 1, 45 . https://doi.org/10.1186/s13041-022-00931-w

Synaptic vesicle glycoprotein-2 (SV2) is a family of proteins consisting of SV2A, SV2B, and SV2C. This protein family has attracted attention in recent years after SV2A was shown to be an epileptic drug target and a perhaps a biomarker of synaptic de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19f925eed254bac009893b21a8e6da3e
https://pubmed.ncbi.nlm.nih.gov/35578248

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SALM1 controls synapse development by promoting F-actin/PIP2-dependent Neurexin clustering

Autor: Ka Wan Li, Fatima Farzana, Frank Koopmans, August B. Smit, Jessie W. Brunner, Silvia Oldani, Matthijs Verhage, Marinka Brouwer, Ruud F. Toonen, Ning Chen, Jan R.T. van Weering

Publikováno v: Brouwer, M, Farzana, F, Koopmans, F, Chen, N, Brunner, J W, Oldani, S, Li, K W, van Weering, J R T, Smit, A B, Toonen, R F & Verhage, M 2019, ' SALM1 controls synapse development by promoting F-actin/PIP2-dependent Neurexin clustering ', EMBO Journal, vol. 38, no. 17, e101289 . https://doi.org/10.15252/embj.2018101289
EMBO Journal, 38(17):e101289, 1-20. Nature Publishing Group
EMBO Journal, 38(17):e101289. Wiley-Blackwell
Brouwer, M, Farzana, F, Koopmans, F, Chen, N, Brunner, J W, Oldani, S, Li, K W, van Weering, J R, Smit, A B, Toonen, R F & Verhage, M 2019, ' SALM1 controls synapse development by promoting F-actin/PIP2-dependent Neurexin clustering ', EMBO Journal, vol. 38, no. 17, e101289, pp. 1-20 . https://doi.org/10.15252/embj.2018101289
The EMBO Journal

Synapse development requires spatiotemporally regulated recruitment of synaptic proteins. In this study, we describe a novel presynaptic mechanism of cis‐regulated oligomerization of adhesion molecules that controls synaptogenesis. We identified sy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dccd74ba8c64f4a684dea731fcb80231
https://doi.org/10.15252/embj.2018101289

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Skewed X-inactivation is common in the general female population

Autor: Shvetsova, E, Sofronova, A, Monajemi, R, Gagalova, K, Draisma, HHM, White, SJ, Santen, GWE, Lopes, SMCDS, Heijmans, BT, Van Meurs, J, Jansen, R, Franke, L, Kielbasa, SM, Den Dunnen, JT, 't Hoen, PAC, Boomsma, DI, Pool, R, Van Dongen, J, Hottenga, JJ, Van Greevenbroek, MMJ, Da Stehouwer, C, Van der Kallen, CJH, Schalkwijk, CG, Wijmenga, C, Zhernakova, S, Tigchelaar, EF, Slagboom, PE, Beekman, M, Deelen, J, Van Heemst, D, Veldink, JH, Van den Berg, LH, Van Duijn, CM, Hofman, BA, Uitterlinden, AG, Jhamai, PM, Verbiest, M, Suchiman, HED, Verkerk, M, Van der Breggen, R, Van Rooij, J, Lakenberg, N, Mei, H, Bot, J, Zhernakova, DV, 't Hof, PV, Deelen, P, Nooren, I, Moed, M, Vermaat, M, Luijk, R, Bonder, MJ, Van Iterson, M, Van Dijk, F, Van Galen, M, Arindrarto, W, Swertz, MA, Van Zwet, EW, Isaacs, A, Francioli, LC, Menelaou, A, Pulit, SL, Palamara, PF, Elbers, CC, Neerincx, PB, Ye, K, Guryev, V, Kloosterman, WP, Abdellaoui, A, Van Leeuwen, EM, Van Oven, M, Li, M, Laros, JF, Karssen, LC, Kanterakis, A, Amin, N, Lameijer, EW, Kattenberg, M, Dijkstra, M, Byelas, H, Van Setten, J, Van Schaik, BD, Nijman, IJ, Renkens, I, Marschall, T, Schonhuth, A, Hehir-Kwa, JY, Handsaker, RE, Polak, P, Sohail, M, Vuzman, D, Hormozdiari, F, Van Enckevort, D, Koval, V, Moed, MH, Van der Velde, KJ, Rivadeneira, F, Estrada, K, Medina-Gomez, C, McCarroll, SA, De Craen, AJ, Suchiman, HE, Oostra, B, Willemsen, G, Platteel, M, Pitts, SJ, Potluri, S, Sundar, P, Cox, DR, Sunyaev, SR, Stoneking, M, De Knijff, P, Kayser, M, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Li, N, Cao, S, Wang, J, Bovenberg, JA, Pe'er, I, Van Ommen, GJ, De Bakker, PI

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, 27(3), 455-465. Nature Publishing Group
European journal of human genetics, 27(3), 455-465. Nature Publishing Group
European Journal of Human Genetics, 27(3), 455-465
European Journal of Human Genetics, 27, 455-465
European Journal of Human Genetics, 27(3), 455. Nature Publishing Group
European Journal of Human Genetics, 27, 3, pp. 455-465
Shvetsova, E, 't Hoen, P A C, Boomsma, D I, Pool, R, van Dongen, J, Hottenga, J J, Willemsen, G & BIOS Consortium 2019, ' Skewed X-inactivation is common in the general female population ', European Journal of Human Genetics, vol. 27, no. 3, pp. 455-465 . https://doi.org/10.1038/s41431-018-0291-3
Shvetsova, E, Sofronova, A, Monajemi, R, Gagalova, K, Draisma, H H M, White, S J, Santen, G W E, Chuva de Sousa Lopes, S M, Heijmans, B T, van Meurs, J, Jansen, R, Franke, L, Kiełbasa, S M, den Dunnen, J T, ‘t Hoen, P A C & BIOS Consortium 2019, ' Skewed X-inactivation is common in the general female population ', European Journal of Human Genetics, vol. 27, no. 3, pp. 455-465 . https://doi.org/10.1038/s41431-018-0291-3

X-inactivation is a well-established dosage compensation mechanism ensuring that X-chromosomal genes are expressed at comparable levels in males and females. Skewed X-inactivation is often explained by negative selection of one of the alleles. We dem

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d16e7db74a66781c04e9903128640a4
https://doi.org/10.1038/s41431-018-0291-3

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The GTPase Rab8 differentially controls the long- and short-range activity of the Hedgehog morphogen gradient by regulating Hedgehog apico-basal distribution

Autor: Cécile Giordano, Thomas Tognacci, Laurence Lavenant-Staccini, Tamás Matusek, Tanvi Gore, Catherine Rabouille, Pascal P. Thérond, Gisela D'Angelo

Publikováno v: Development (Cambridge, England)
Development (Cambridge, England), Company of Biologists, 2021, 148 (5), ⟨10.1242/dev.191791⟩
Development (Cambridge, England), 2021, 148 (5), ⟨10.1242/dev.191791⟩
Development (Cambridge), 148(5). Company of Biologists Ltd
DEVELOPMENT, 148(5):191791. COMPANY OF BIOLOGISTS LTD

The Hedgehog (Hh) morphogen gradient is required for patterning during metazoan development, yet the mechanisms involved in Hh apical and basolateral release and how this influences short- and long-range target induction are poorly understood. We fou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3881037a4a6e970d84036bd923038e3
https://hal.archives-ouvertes.fr/hal-03414597

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Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities

Publikováno v: Haematologica
Haematologica, vol. 106, no. 11, pp. 2960-2970

The investigation of inherited disorders of erythropoiesis has elucidated many of the principles underlying the production of normal red blood cells and how this is perturbed in human disease. Congenital dyserythropoietic anemia type 1 (CDA-I) is a r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7a8f19d6ee934982846efd9e4847a92
https://pubmed.ncbi.nlm.nih.gov/33121234

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uPARAP/Endo180 receptor is a gatekeeper of VEGFR-2/VEGFR-3 heterodimerisation during pathological lymphangiogenesis

Autor: Durré, Tania, Morfoisse, Florent, Erpicum, Charlotte, Ebroin, Marie, Blacher, Silvia, García-Caballero, Melissa, Deroanne, Christophe, Louis, Thomas, Balsat, Cédric, Van de Velde, Maureen, Kaijalainen, Seppo, Kridelka, Frederic, Engelholm, Lars, Struman, Ingrid, Alitalo, Kari, Behrendt, Niels, Paupert, Jenny, Noel, Agnès

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-16 (2018)
Nature Communications
Nature communications, 9 (1

The development of new lymphatic vessels occurs in many cancerous and inflammatory diseases through the binding of VEGF-C to its receptors, VEGFR-2 and VEGFR-3. The regulation of VEGFR-2/VEGFR-3 heterodimerisation and its downstream signaling in lymp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1ba0b09e82a02f5e1a6abc11b5825577
https://doaj.org/article/38a29c790f274d7296f82886c67f9d1c

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Gene expression profiling of fast- and slow-growing non-functioning gonadotroph pituitary adenomas

Autor: Arvind Y. M. Sundaram, Camilla Maria Falch, Kjersti Ringvoll Normann, Marianne Andersen, Ivars Silamikelis, Tove Lekva, Nicoleta Cristina Olarescu, Jens Bollerslev, Kristin Astrid Berland Øystese, Alexander Eieland

Publikováno v: Falch, C M, Sundaram, A Y M, Øystese, K A, Normann, K R, Lekva, T, Silamikelis, I, Eieland, A K, Andersen, M S, Bollerslev, J & Olarescu, N C 2018, ' Gene expression profiling of fast-and slow-growing non-functioning gonadotroph pituitary adenomas ', European Journal of Endocrinology, vol. 178, no. 3, pp. 295-307 . https://doi.org/10.1530/EJE-17-0702

ObjectiveReliable biomarkers associated with aggressiveness of non-functioning gonadotroph adenomas (GAs) are lacking. As the growth of tumor remnants is highly variable, molecular markers for growth potential prediction are necessary. We hypothesize

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::126a05ef8be51edb939b724d5fc8fbb4
https://doi.org/10.1530/eje-17-0702

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N-glycosylation of mouse TRAIL-R and human TRAIL-R1 enhances TRAIL-induced death

Publikováno v: Cell Death and Differentiation
Cell Death and Differentiation, Nature Publishing Group, 2017, [Epub ahead of print]. ⟨10.1038/cdd.2016.150⟩
Cell death and differentiation, vol. 24, no. 3, pp. 500-510

International audience; APO2L/TRAIL (TNF-related apoptosis-inducing ligand) induces death of tumor cells through two agonist receptors, TRAIL-R1 and TRAIL-R2. We demonstrate here that N-linked glycosylation (N-glyc) plays also an important regulatory

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41691b65bb3cbadb464044124dae0bca
https://doi.org/10.1038/cdd.2016.150

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