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Items: 1 to 20 of 40

1.
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder
Reza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, Lutz Liebmann, Ehsan Ghayoor Karimiani, Barbara Vona, Antje K. Huebner, Daniel G. Calame, Vinod K. Misra, Saeid Sadeghian, Reza Azizimalamiri, Mohammad Hasan Mohammadi, Jawaher Zeighami, Sogand Heydaran, Mehran Beiraghi Toosi, Javad Akhondian, Meisam Babaei, Narges Hashemi, Rhonda E. Schnur, Mohnish Suri, Jonas Setzke, Matias Wagner, Theresa Brunet, Christopher M. Grochowski, Lisa Emrick, Wendy K. Chung, Ute A. Hellmich, Miriam Schmidts, James R. Lupski, Hamid Galehdari, Mariasavina Severino, Henry Houlden, Christian A. Hübner
Genet Med. 2024 Mar; 26(3): 101034. doi: 10.1016/j.gim.2023.101034
PMCID:
PMC11157690
AbstractArticlePDF–3.3M
2.
K+-Driven Cl−/HCO3− Exchange Mediated by Slc4a8 and Slc4a10
Gaspar Peña-Münzenmayer, Alvin T. George, Nuria Llontop, Yuliet Mazola, Natalia Apablaza, Carlos Spichiger, Sebastián Brauchi, José Sarmiento, Leandro Zúñiga, Wendy González, Marcelo A. Catalán
Int J Mol Sci. 2024 Apr; 25(8): 4575. Published online 2024 Apr 22. doi: 10.3390/ijms25084575
PMCID:
PMC11050268
AbstractArticlePDF–3.7M
3.
Genetic determinants of micronucleus formation in vivo
D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus
Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0
PMCID:
PMC10917660
AbstractArticlePDF–4.8M
4.
Identification of new ciliary signaling pathways in the brain and insights into neurological disorders
Abdelhalim Loukil, Emma Ebright, Akiyoshi Uezu, Yudong Gao, Scott H Soderling, Sarah C. Goetz
Version 1. bioRxiv. Preprint. 2023 Dec 21. doi: 10.1101/2023.12.20.572700
PMCID:
PMC10769350
AbstractArticlePDF–11M
5.
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission
James Fasham, Antje K Huebner, Lutz Liebmann, Reham Khalaf-Nazzal, Reza Maroofian, Nderim Kryeziu, Saskia B Wortmann, Joseph S Leslie, Nishanka Ubeyratna, Grazia M S Mancini, Marjon van Slegtenhorst, Martina Wilke, Tobias B Haack, Hanan E Shamseldin, Joseph G Gleeson, Mohamed Almuhaizea, Imad Dweikat, Bassam Abu-Libdeh, Muhannad Daana, Maha S Zaki, Matthew N Wakeling, Lucy McGavin, Peter D Turnpenny, Fowzan S Alkuraya, Henry Houlden, Peter Schlattmann, Kai Kaila, Andrew H Crosby, Emma L Baple, Christian A Hübner
Brain. 2023 Nov; 146(11): 4547–4561. Published online 2023 Jul 17. doi: 10.1093/brain/awad235
PMCID:
PMC10629776
AbstractArticlePDF–1.0M
6.
In vitro investigation of the effect of proinflammatory cytokines on mouse choroid plexus membrane transporters Ncbe and NKCC1
Laura Øllegaard Johnsen, Kathrine Abildskov Friis, Helle Hasager Damkier
Fluids Barriers CNS. 2023; 20: 71. Published online 2023 Oct 12. doi: 10.1186/s12987-023-00474-9
PMCID:
PMC10568836
AbstractArticlePDF–4.0M
7.
KCTD13-mediated ubiquitination and degradation of GluN1 regulates excitatory synaptic transmission and seizure susceptibility
Juan Gu, Pingyang Ke, Haokun Guo, Jing Liu, Yan Liu, Xin Tian, Zhuo Huang, Xin Xu, Demei Xu, Yuanlin Ma, Xuefeng Wang, Fei Xiao
Cell Death Differ. 2023 Jul; 30(7): 1726–1741. Published online 2023 May 4. doi: 10.1038/s41418-023-01174-5
PMCID:
PMC10307852
AbstractArticlePDF–8.8M
8.
Constitutive activation of canonical Wnt signaling disrupts choroid plexus epithelial fate
Arpan Parichha, Varun Suresh, Mallika Chatterjee, Aditya Kshirsagar, Lihi Ben-Reuven, Tsviya Olender, M. Mark Taketo, Velena Radosevic, Mihaela Bobic-Rasonja, Sara Trnski, Michael J. Holtzman, Nataša Jovanov-Milosevic, Orly Reiner, Shubha Tole
Nat Commun. 2022; 13: 633. Published online 2022 Feb 2. doi: 10.1038/s41467-021-27602-z
PMCID:
PMC8810795
AbstractArticlePDF–21M
9.
Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development
Francesco Bedogni, Robert F. Hevner
Front Mol Neurosci. 2021; 14: 686034. Published online 2021 Jul 12. doi: 10.3389/fnmol.2021.686034
PMCID:
PMC8313239
AbstractArticlePDF–1.6M
10.
A cellular and spatial map of the choroid plexus across brain ventricles and ages
Neil Dani, Rebecca H. Herbst, Cristin McCabe, Gilad Green, Karol Kaiser, Joshua Head, Jin Cui, Frederick B. Shipley, Ahram Jang, Danielle Dionne, Lan Nguyen, Christopher Rodman, Samantha J. Riesenfeld, Jan Prochazka, Michaela Prochazkova, Radislav Sedlacek, Feng Zhang, Vitezslav Bryja, Orit Rozenblatt-Rosen, Naomi Habib, Aviv Regev, Maria K. Lehtinen
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3056–3074.e21. Published online 2021 Apr 30. doi: 10.1016/j.cell.2021.04.003
PMCID:
PMC8214809
AbstractArticlePDF–3.5M
11.
BraInMap elucidates the macromolecular connectivity landscape of mammalian brain
Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili
Cell Syst. Author manuscript; available in PMC 2021 Apr 22.
Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003
Correction in:
Cell Syst. 2020 Aug 26; 11(2): 208.
PMCID:
PMC7938770
AbstractArticlePDF–2.0M
12.
Genetic disruption of slc4a10 alters the capacity for cellular metabolism and vectorial ion transport in the choroid plexus epithelium
Inga Baasch Christensen, Qi Wu, Anders Solitander Bohlbro, Marianne Gerberg Skals, Helle Hasager Damkier, Christian Andreas Hübner, Robert Andrew Fenton, Jeppe Praetorius
Fluids Barriers CNS. 2020; 17: 2. Published online 2020 Jan 7. doi: 10.1186/s12987-019-0162-5
PMCID:
PMC6945596
AbstractArticlePDF–3.5M
13.
Overlapping Activities of Two Neuronal Splicing Factors Switch the GABA Effect from Excitatory to Inhibitory by Regulating REST
Yoko Nakano, Susan Wiechert, Botond Bánfi
Cell Rep. Author manuscript; available in PMC 2019 Jun 9.
Published in final edited form as: Cell Rep. 2019 Apr 16; 27(3): 860–871.e8. doi: 10.1016/j.celrep.2019.03.072
PMCID:
PMC6556397
AbstractArticlePDF–2.3M
14.
Early Hearing Loss upon Disruption of Slc4a10 in C57BL/6 Mice
Antje K. Huebner, Hannes Maier, Alena Maul, Sandor Nietzsche, Tanja Herrmann, Jeppe Praetorius, Christian A. Hübner
J Assoc Res Otolaryngol. 2019 Jun; 20(3): 233–245. Published online 2019 Apr 18. doi: 10.1007/s10162-019-00719-1
PMCID:
PMC6514043
AbstractArticlePDF–2.1M
15.
Interaction of tau with the RNA-Binding Protein TIA1 Regulates tau Pathophysiology and Toxicity
Tara Vanderweyde, Daniel J. Apicco, Katherine Youmans-Kidder, Peter E.A. Ash, Casey Cook, Edroaldo Lummertz da Rocha, Karen Jansen-West, Alissa A. Frame, Allison Citro, John D. Leszyk, Pavel Ivanov, Jose F. Abisambra, Martin Steffen, Hu Li, Leonard Petrucelli, Benjamin Wolozin
Cell Rep. Author manuscript; available in PMC 2017 Feb 24.
Published in final edited form as: Cell Rep. 2016 May 17; 15(7): 1455–1466. Published online 2016 May 6. doi: 10.1016/j.celrep.2016.04.045
PMCID:
PMC5325702
AbstractArticlePDF–2.1M
16.
Novel gene function revealed by mouse mutagenesis screens for models of age-related disease
Paul K. Potter, Michael R. Bowl, Prashanthini Jeyarajan, Laura Wisby, Andrew Blease, Michelle E. Goldsworthy, Michelle M. Simon, Simon Greenaway, Vincent Michel, Alun Barnard, Carlos Aguilar, Thomas Agnew, Gareth Banks, Andrew Blake, Lauren Chessum, Joanne Dorning, Sara Falcone, Laurence Goosey, Shelley Harris, Andy Haynes, Ines Heise, Rosie Hillier, Tertius Hough, Angela Hoslin, Marie Hutchison, Ruairidh King, Saumya Kumar, Heena V. Lad, Gemma Law, Robert E. MacLaren, Susan Morse, Thomas Nicol, Andrew Parker, Karen Pickford, Siddharth Sethi, Becky Starbuck, Femke Stelma, Michael Cheeseman, Sally H. Cross, Russell G. Foster, Ian J. Jackson, Stuart N. Peirson, Rajesh V. Thakker, Tonia Vincent, Cheryl Scudamore, Sara Wells, Aziz El-Amraoui, Christine Petit, Abraham Acevedo-Arozena, Patrick M. Nolan, Roger Cox, Anne-Marie Mallon, Steve D. M. Brown
Nat Commun. 2016; 7: 12444. Published online 2016 Aug 18. doi: 10.1038/ncomms12444
PMCID:
PMC4992138
AbstractArticlePDF–2.2M
17.
Disruption of Slc4a10 augments neuronal excitability and modulates synaptic short-term plasticity
Anne Sinning, Lutz Liebmann, Christian A. Hübner
Front Cell Neurosci. 2015; 9: 223. Published online 2015 Jun 16. doi: 10.3389/fncel.2015.00223
PMCID:
PMC4468864
AbstractArticlePDF–2.7M
18.
Spatially Heterogeneous Choroid Plexus Transcriptomes Encode Positional Identity and Contribute to Regional CSF Production
Melody P. Lun, Matthew B. Johnson, Kevin G. Broadbelt, Momoko Watanabe, Young-jin Kang, Kevin F. Chau, Mark W. Springel, Alexandra Malesz, André M.M. Sousa, Mihovil Pletikos, Tai Adelita, Monica L. Calicchio, Yong Zhang, Michael J. Holtzman, Hart G.W. Lidov, Nenad Sestan, Hanno Steen, Edwin S. Monuki, Maria K. Lehtinen
J Neurosci. 2015 Mar 25; 35(12): 4903–4916. doi: 10.1523/JNEUROSCI.3081-14.2015
Correction in:
J Neurosci. 2015 Jun 3; 35(22): 8686.
PMCID:
PMC4389594
AbstractArticlePDF–3.3M
19.
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data
Gautier Koscielny, Gagarine Yaikhom, Vivek Iyer, Terrence F. Meehan, Hugh Morgan, Julian Atienza-Herrero, Andrew Blake, Chao-Kung Chen, Richard Easty, Armida Di Fenza, Tanja Fiegel, Mark Grifiths, Alan Horne, Natasha A. Karp, Natalja Kurbatova, Jeremy C. Mason, Peter Matthews, Darren J. Oakley, Asfand Qazi, Jack Regnart, Ahmad Retha, Luis A. Santos, Duncan J. Sneddon, Jonathan Warren, Henrik Westerberg, Robert J. Wilson, David G. Melvin, Damian Smedley, Steve D. M. Brown, Paul Flicek, William C. Skarnes, Ann-Marie Mallon, Helen Parkinson
Nucleic Acids Res. 2014 Jan 1; 42(Database issue): D802–D809. Published online 2013 Nov 3. doi: 10.1093/nar/gkt977
PMCID:
PMC3964955
AbstractArticlePDF–5.7M
20.
Polarization of membrane associated proteins in the choroid plexus epithelium from normal and slc4a10 knockout mice
Inga B. Christensen, Tua Gyldenholm, Helle H. Damkier, Jeppe Praetorius
Front Physiol. 2013; 4: 344. Prepublished online 2013 Oct 17. Published online 2013 Nov 27. doi: 10.3389/fphys.2013.00344
PMCID:
PMC3842056
AbstractArticlePDF–2.0M

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