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Select item 113170911.

HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells

Shiyu Luo, Bilal Alwattar, Qifei Li, Kiran Bora, Alexandra K. Blomfield, Jasmine Lin, Anne Fulton, Jing Chen, Pankaj B. Agrawal

Dis Model Mech. 2024 Aug 1; 17(8): dmm050557. Published online 2024 Jul 30. doi: 10.1242/dmm.050557

PMCID:: PMC11317091

Article

Select item 111150442.

Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development

Roslyn J. Simms, Ann Marie Hynes, Lorraine Eley, David Inglis, Bill Chaudhry, Helen R. Dawe, John A. Sayer

Cell Mol Life Sci. 2012 Mar; 69(6): 993–1009. Published online 2011 Sep 29. doi: 10.1007/s00018-011-0826-z

PMCID:: PMC11115044

Article PDF–2.2M

Select item 109176603.

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

Article PDF–4.8M

Select item 98695924.

The mitochondrial Ahi1/GR participates the regulation on mtDNA copy numbers and brain ATP levels and modulates depressive behaviors in mice

Bin Wang, Haixia Shi, Bo Yang, Zhigang Miao, Miao Sun, Hao Yang, Xingshun Xu

Cell Commun Signal. 2023; 21: 21. Published online 2023 Jan 23. doi: 10.1186/s12964-022-01034-8

PMCID:: PMC9869592

Article PDF–6.0M

Select item 94819335.

ALS-linked loss of Cyclin-F function affects HSP90

Alexander Siebert, Vanessa Gattringer, Jochen H Weishaupt, Christian Behrends

Life Sci Alliance. 2022 Dec; 5(12): e202101359. Published online 2022 Sep 16. doi: 10.26508/lsa.202101359

PMCID:: PMC9481933

Article PDF–3.5M

Select item 92741866.

Depression compromises antiviral innate immunity via the AVP-AHI1-Tyk2 axis

Hong-Guang Zhang, Bin Wang, Yong Yang, Xuan Liu, Junjie Wang, Ning Xin, Shifeng Li, Ying Miao, Qiuyu Wu, Tingting Guo, Yukang Yuan, Yibo Zuo, Xiangjie Chen, Tengfei Ren, Chunsheng Dong, Jun Wang, Hang Ruan, Miao Sun, Xingshun Xu, Hui Zheng

Cell Res. 2022 Oct; 32(10): 897–913. Published online 2022 Jul 12. doi: 10.1038/s41422-022-00689-9

PMCID:: PMC9274186

Article PDF–6.7M

Select item 91484867.

Ahi1 regulates serotonin production by the GR/ERβ/TPH2 pathway involving sexual differences in depressive behaviors

Bin Wang, Haixia Shi, Liyan Ren, Zhigang Miao, Bo Wan, Hao Yang, Xiaotang Fan, Jan-Ake Gustafsson, Miao Sun, Xingshun Xu

Cell Commun Signal. 2022; 20: 74. Published online 2022 May 28. doi: 10.1186/s12964-022-00894-4

PMCID:: PMC9148486

Article PDF–4.4M

Select item 88378228.

Stress modulates Ahi1-dependent nuclear localization of ten-eleven translocation protein 2

Qian Zhang, Qicheng Hu, Junjie Wang, Zhigang Miao, Ziyi Li, Yuwen Zhao, Bo Wan, Emily G Allen, Miao Sun, Peng Jin, Xingshun Xu

Hum Mol Genet. 2021 Nov 15; 30(22): 2149–2160. Published online 2021 Jul 3. doi: 10.1093/hmg/ddab179

PMCID:: PMC8837822

Article PDF–1.5M

Select item 83132399.

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

Article PDF–1.6M

Select item 808432210.

The Transition Zone Protein AHI1 Regulates Neuronal Ciliary Trafficking of MCHR1 and Its Downstream Signaling Pathway

Yi-Chun Hsiao, Jesús Muñoz-Estrada, Karina Tuz, Russell J. Ferland

J Neurosci. 2021 Apr 28; 41(17): 3932–3943. doi: 10.1523/JNEUROSCI.2993-20.2021

PMCID:: PMC8084322

Article PDF–2.9M

Select item 807558311.

Defects in translation-dependent quality control pathways lead to convergent molecular and neurodevelopmental pathology

Markus Terrey, Scott I Adamson, Jeffrey H Chuang, Susan L Ackerman

eLife. 2021; 10: e66904. Published online 2021 Apr 26. doi: 10.7554/eLife.66904

PMCID:: PMC8075583

Article PDF–8.4M

Select item 800773512.

Ahi1 regulates the nuclear translocation of glucocorticoid receptor to modulate stress response

Bin Wang, Ning Xin, Xuanchen Qian, Lijing Zhai, Zhigang Miao, Yong Yang, Shihua Li, Miao Sun, Xingshun Xu, Xiao-Jiang Li

Transl Psychiatry. 2021; 11: 188. Published online 2021 Mar 29. doi: 10.1038/s41398-021-01305-x

PMCID:: PMC8007735

Article PDF–1.9M

Select item 793877013.

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

Article PDF–2.0M

Select item 773946614.

Identification of FMRP target mRNAs in the developmental brain: FMRP might coordinate Ras/MAPK, Wnt/β-catenin, and mTOR signaling during corticogenesis

Cristine R. Casingal, Takako Kikkawa, Hitoshi Inada, Yukio Sasaki, Noriko Osumi

Mol Brain. 2020; 13: 167. Published online 2020 Dec 16. doi: 10.1186/s13041-020-00706-1

PMCID:: PMC7739466

Article PDF–1.5M

Select item 722702815.

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Gayle B. Collin, Navdeep Gogna, Bo Chang, Nattaya Damkham, Jai Pinkney, Lillian F. Hyde, Lisa Stone, Jürgen K. Naggert, Patsy M. Nishina, Mark P. Krebs

Cells. 2020 Apr; 9(4): 931. Published online 2020 Apr 10. doi: 10.3390/cells9040931

PMCID:: PMC7227028

Article PDF–5.4M

Select item 677114516.

Ahi1 promotes Arl13b ciliary recruitment, regulates Arl13b stability and is required for normal cell migration

Jesús Muñoz-Estrada, Russell J. Ferland

J Cell Sci. 2019 Sep 1; 132(17): jcs230680. Published online 2019 Sep 4. doi: 10.1242/jcs.230680

PMCID:: PMC6771145

Article

Select item 669277017.

Hdac4 Interactions in Huntington's Disease Viewed Through the Prism of Multiomics

Joel D. Federspiel, Todd M. Greco, Krystal K. Lum, Ileana M. Cristea

Mol Cell Proteomics. 2019 Aug 9; 18(8 Suppl 1): S92–S113. Published online 2019 Apr 30. doi: 10.1074/mcp.RA118.001253

PMCID:: PMC6692770

Article PDF–7.7M

Select item 655639718.

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

Article PDF–2.3M

Select item 645951019.

Mouse screen reveals multiple new genes underlying mouse and human hearing loss

Neil J. Ingham, Selina A. Pearson, Valerie E. Vancollie, Victoria Rook, Morag A. Lewis, Jing Chen, Annalisa Buniello, Elisa Martelletti, Lorenzo Preite, Chi Chung Lam, Felix D. Weiss, Zӧe Powis, Pim Suwannarat, Christopher J. Lelliott, Sally J. Dawson, Jacqueline K. White, Karen P. Steel

PLoS Biol. 2019 Apr; 17(4): e3000194. Published online 2019 Apr 11. doi: 10.1371/journal.pbio.3000194

PMCID:: PMC6459510

Article PDF–5.1M

Select item 644537420.

Loss of the neurodevelopmental Joubert syndrome causing protein, Ahi1, causes motor and muscle development delays independent of central nervous system involvement

Justin R. Bourgeois, Russell J. Ferland

Dev Biol. Author manuscript; available in PMC 2020 Apr 1.

Published in final edited form as: Dev Biol. 2019 Apr 1; 448(1): 36–47. Published online 2019 Jan 26. doi: 10.1016/j.ydbio.2019.01.014

PMCID:: PMC6445374

Article PDF–2.0M

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