Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Jan Hoeber"'
Autor:
Jens Schuster, Joakim Klar, Ayda Khalfallah, Loora Laan, Jan Hoeber, Ambrin Fatima, Velin Marita Sequeira, Zhe Jin, Sergiy V. Korol, Mikael Huss, Ann Nordgren, Britt Marie Anderlid, Caroline Gallant, Bryndis Birnir, Niklas Dahl
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
Mowat-Wilson syndrome (MWS) is a severe neurodevelopmental disorder caused by heterozygous variants in the gene encoding transcription factor ZEB2. Affected individuals present with structural brain abnormalities, speech delay and epilepsy. In mice,
Externí odkaz:
https://doaj.org/article/3367a1ecb0fa455a9d3e6d6550ba3e2c
Publikováno v:
Stem Cell Research, Vol 49, Iss , Pp 102081- (2020)
Down syndrome (DS) is caused by trisomy for chromosome 21 (T21). We generated two induced pluripotent stem cell (iPSC) lines from skin fibroblasts of two males with DS using Sendai virus delivery of OCT4, SOX2, KLF4, and c-MYC. Characterization of th
Externí odkaz:
https://doaj.org/article/abd546fc4ef240dd82ebc52a16879d7b
Publikováno v:
Stem Cell Research, Vol 44, Iss , Pp - (2020)
The role of Neurochondrin (NCDN) in humans is not well understood. Mice with a conditional Ncdn knock-out show epileptic seizures, depressive-like behaviours and impaired spatial learning. Using CRISPR/Cas9, we generated a Neurochondrin deficient hum
Externí odkaz:
https://doaj.org/article/78887c7a642f42edb96eff02ac50b806
Autor:
Ambrin Fatima, Jens Schuster, Talia Akram, Carolina Maya González, Maria Sobol, Jan Hoeber, Niklas Dahl
Publikováno v:
Stem Cell Research, Vol 44, Iss , Pp - (2020)
Incontinentia pigmenti (IP) is an X-linked dominant neuroectodermal dysplasia caused by loss-of-function mutations in the IKBKG gene. Using CRISPR/Cas9 technology, we generated an IKBKG knock-out iPSC line (KICRi002-A-1) on a 46,XY background. The iP
Externí odkaz:
https://doaj.org/article/3190affba4804d6db3634f98612a0a24
Autor:
Anna Shteinfer-Kuzmine, Shirel Argueti, Rajeev Gupta, Neta Shvil, Salah Abu-Hamad, Yael Gropper, Jan Hoeber, Andrea Magrì, Angela Messina, Elena N. Kozlova, Varda Shoshan-Barmatz, Adrian Israelson
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 13 (2019)
Mutations in superoxide dismutase (SOD1) are the second most common cause of familial amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease caused by the death of motor neurons in the brain and spinal cord. SOD1 neurotoxicity has bee
Externí odkaz:
https://doaj.org/article/792d9bcbe58d4417b306d353aa9657f1
Autor:
Jan Hoeber
Publikováno v:
Neural Regeneration Research, Vol 10, Iss 11, Pp 1739-1740 (2015)
Externí odkaz:
https://doaj.org/article/da71c890b4984a27a9b66fe86f6168b7
Autor:
Saheeb Ahmed, Nina Wittenmayer, Thomas Kremer, Jan Hoeber, Asha Kiran Akula, Henning Urlaub, Markus Islinger, Joachim Kirsch, Camin Dean, Thomas Dresbach
Publikováno v:
PLoS ONE, Vol 8, Iss 5, p e63474 (2013)
With remarkably few exceptions, the molecules mediating synaptic vesicle exocytosis at active zones are structurally and functionally conserved between vertebrates and invertebrates. Mover was found in a yeast-2-hybrid assay using the vertebrate-spec
Externí odkaz:
https://doaj.org/article/7731ba30286e4d8585a237756518208c
Autor:
Kathrine Lundø, K.K. Rasmussen, Jan Hoeber, Anders Christiansen, David P.D. Woldbye, Elena N. Kozlova, Henrik Hertz, Amaia de Diego Ajenjo, Jörg Klingelhöfer, Alexander L. Nielsen, Stanislava Pankratova, Oksana Dmytriyeva
Publikováno v:
ACS Chemical Neuroscience. 11:1270-1282
Vascular endothelial growth factor B (VEGFB) is a pleiotropic trophic factor, which in contrast to the closely related VEGFA is known to have a limited effect on angiogenesis. VEGFB improves survival in various tissues including the nervous system, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b395dfe3c6b0a28c5ddba6479c8281e3
https://doi.org/10.1021/acschemneuro.9b00685
https://doi.org/10.1021/acschemneuro.9b00685
Autor:
Eriko Koshimizu, Loora Laan, Ambrin Fatima, Yoshiko Murakami, Takayoshi Koike, Junpei Tanigawa, Uzma Abdullah, Muhammad Akhtar Ali, Maarika Liik, Talia Akram, Mitsuhiro Kato, Casimiro Castillejo-López, Shahid Mahmood Baig, Naomichi Matsumoto, Boris Keren, Joakim Klar, Zafar Ali, Jan Hoeber, Zhe Jin, Satoko Miyatake, Jens Schuster, Niklas Dahl, Cyril Mignot, Bryndis Birnir, Rein Fadoul, Carolina Maya-Gonzalez
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), In press, ⟨10.1016/j.ajhg.2021.02.015⟩
American Journal of Human Genetics, Elsevier (Cell Press), In press, ⟨10.1016/j.ajhg.2021.02.015⟩
International audience; Neurochondrin (NCDN) is a cytoplasmatic neural protein of importance for neural growth, glutamate receptor (mGluR) signaling, and synaptic plasticity. Conditional loss of Ncdn in mice neural tissue causes depressive-like behav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df64441b98868fc0dc51bfb34b05df73
https://hal.sorbonne-universite.fr/hal-03169302/file/mmc2.pdf
https://hal.sorbonne-universite.fr/hal-03169302/file/mmc2.pdf
Autor:
Malin Kele, Muhammad Zakaria, Göran Annerén, Mansoureh Shahsavani, Anna Falk, Jan Hoeber, Maria Sobol, Niklas Dahl, Joakim Klar, Jens Schuster, Ambrin Fatima, Loora Laan
Publikováno v:
Clinical Epigenetics
Background Down syndrome (DS) is characterized by neurodevelopmental abnormalities caused by partial or complete trisomy of human chromosome 21 (T21). Analysis of Down syndrome brain specimens has shown global epigenetic and transcriptional changes b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fef917a3c433ae0df893b1a8b53b5a4
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-398619
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-398619