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Items: 1 to 20 of 41

1.
Knockout mice with pituitary malformations help identify human cases of hypopituitarism
Julian Martinez-Mayer, Michelle L. Brinkmeier, Sean P. O’Connell, Arnold Ukagwu, Marcelo A. Marti, Mirta Miras, Maria V. Forclaz, Maria G. Benzrihen, Leonard Y. M. Cheung, Sally A. Camper, Buffy S. Ellsworth, Lori T. Raetzman, Maria I. Pérez-Millán, Shannon W. Davis
Genome Med. 2024; 16: 75. Published online 2024 May 31. doi: 10.1186/s13073-024-01347-y
PMCID:
PMC11140907
AbstractArticlePDF–4.4M
2.
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
3.
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
4.
A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility
Katrin Meindl, Naomi Issler, Sara Afonso, Alberto Cebrian-Serrano, Karin Müller, Christina Sterner, Helga Othmen, Ines Tegtmeier, Ralph Witzgall, Enriko Klootwijk, Benjamin Davies, Robert Kleta, Richard Warth
Front Cell Dev Biol. 2023; 11: 1240558. Published online 2023 Oct 12. doi: 10.3389/fcell.2023.1240558
PMCID:
PMC10600459
AbstractArticlePDF–6.8M
5.
EHD1-dependent traffic of IGF-1 receptor to the cell surface is essential for Ewing sarcoma tumorigenesis and metastasis
Sukanya Chakraborty, Aaqib M. Bhat, Insha Mushtaq, Haitao Luan, Achyuth Kalluchi, Sameer Mirza, Matthew D. Storck, Nagendra Chaturvedi, Jose Antonio Lopez-Guerrero, Antonio Llombart-Bosch, Isidro Machado, Katia Scotlandi, Jane L. Meza, Gargi Ghosal, Donald W. Coulter, M. Jordan Rowley, Vimla Band, Bhopal C. Mohapatra, Hamid Band
Commun Biol. 2023; 6: 758. Published online 2023 Jul 20. doi: 10.1038/s42003-023-05125-1
PMCID:
PMC10359273
AbstractArticlePDF–9.8M
6.
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
7.
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness
Naomi Issler, Sara Afonso, Irith Weissman, Katrin Jordan, Alberto Cebrian-Serrano, Katrin Meindl, Eileen Dahlke, Konstantin Tziridis, Guanhua Yan, José M. Robles-López, Lydia Tabernero, Vaksha Patel, Anne Kesselheim, Enriko D. Klootwijk, Horia C. Stanescu, Simona Dumitriu, Daniela Iancu, Mehmet Tekman, Monika Mozere, Graciana Jaureguiberry, Priya Outtandy, Claire Russell, Anna-Lena Forst, Christina Sterner, Elena-Sofia Heinl, Helga Othmen, Ines Tegtmeier, Markus Reichold, Ina Maria Schiessl, Katharina Limm, Peter Oefner, Ralph Witzgall, Lifei Fu, Franziska Theilig, Achim Schilling, Efrat Shuster Biton, Limor Kalfon, Ayalla Fedida, Elite Arnon-Sheleg, Ofer Ben Izhak, Daniella Magen, Yair Anikster, Holger Schulze, Christine Ziegler, Martin Lowe, Benjamin Davies, Detlef Böckenhauer, Robert Kleta, Tzipora C. Falik Zaccai, Richard Warth
J Am Soc Nephrol. 2022 Apr; 33(4): 732–745. Published online 2022 Apr. doi: 10.1681/ASN.2021101312
PMCID:
PMC8970462
AbstractArticle
8.
Functional and behavioral effects of de novo mutations in calcium-related genes in patients with bipolar disorder
Takumi Nakamura, Kazuo Nakajima, Yuki Kobayashi, Shigeyoshi Itohara, Takaoki Kasahara, Takashi Tsuboi, Tadafumi Kato
Hum Mol Genet. 2021 Oct 1; 30(19): 1851–1862. Published online 2021 Jun 7. doi: 10.1093/hmg/ddab152
PMCID:
PMC8444452
AbstractArticlePDF–1.4M
9.
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
10.
BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING)
Kou Motani, Hidetaka Kosako
J Biol Chem. 2020 Aug 7; 295(32): 11174–11183. Published online 2020 Jun 17. doi: 10.1074/jbc.RA120.014323
PMCID:
PMC7415991
AbstractArticlePDF–2.0M
11.
Sorting nexin 17 (SNX17) links endosomal sorting to Eps15 homology domain protein 1 (EHD1)–mediated fission machinery
Kanika Dhawan, Naava Naslavsky, Steve Caplan
J Biol Chem. 2020 Mar 20; 295(12): 3837–3850. Published online 2020 Feb 10. doi: 10.1074/jbc.RA119.011368
PMCID:
PMC7086038
AbstractArticlePDF–4.8M
12.
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
AbstractArticlePDF–5.1M
13.
Complementary proteomics strategies capture an ataxin-1 interactome in Neuro-2a cells
Sunyuan Zhang, Nicholas A. Williamson, Marie A. Bogoyevitch
Sci Data. 2018; 5: 180262. Published online 2018 Nov 20. doi: 10.1038/sdata.2018.262
PMCID:
PMC6244183
AbstractArticlePDF–753K
14.
Quantitative evaluation of incomplete preweaning lethality in mice by using the CRISPR/Cas9 system
Takumi Nakamura, Kazuo Nakajima, Tetsuo Ohnishi, Takeo Yoshikawa, Moe Nakanishi, Toru Takumi, Takashi Tsuboi, Tadafumi Kato
Sci Rep. 2018; 8: 16025. Published online 2018 Oct 30. doi: 10.1038/s41598-018-34270-5
PMCID:
PMC6207718
AbstractArticlePDF–1.0M
15.
Role of the EHD family of endocytic recycling regulators for TCR recycling and T-cell function
Fany M. Iseka, Benjamin T. Goetz, Insha Mushtaq, Wei An, Luke R. Cypher, Timothy A. Bielecki, Eric C. Tom, Priyanka Arya, Sohinee Bhattacharyya, Matthew D. Storck, Craig L. Semerad, James E. Talmadge, R. Lee Moseley, Vimla Band, Hamid Band
J Immunol. Author manuscript; available in PMC 2019 Jan 15.
Published in final edited form as: J Immunol. 2018 Jan 15; 200(2): 483–499. Published online 2017 Dec 6. doi: 10.4049/jimmunol.1601793
PMCID:
PMC5760286
AbstractArticlePDF–1.4M
16.
EHD Proteins Cooperate to Generate Caveolar Clusters and to Maintain Caveolae during Repeated Mechanical Stress
Ivana Yeow, Gillian Howard, Jessica Chadwick, Carolina Mendoza-Topaz, Carsten G. Hansen, Benjamin J. Nichols, Elena Shvets
Curr Biol. 2017 Oct 9; 27(19): 2951–2962.e5. doi: 10.1016/j.cub.2017.07.047
PMCID:
PMC5640515
AbstractArticle
17.
Fancd2 in vivo interaction network reveals a non-canonical role in mitochondrial function
Tingting Zhang, Wei Du, Andrew F. Wilson, Satoshi H. Namekawa, Paul R. Andreassen, Amom Ruhikanta Meetei, Qishen Pang
Sci Rep. 2017; 7: 45626. Published online 2017 Apr 5. doi: 10.1038/srep45626
PMCID:
PMC5381226
AbstractArticlePDF–1.4M
18.
CSF-1 receptor signalling is governed by pre-requisite EHD1 mediated receptor display on the macrophage cell surface
Luke R. Cypher, Timothy Alan Bielecki, Lu Huang, Wei An, Fany Iseka, Eric Tom, Matthew D. Storck, Adam D. Hoppe, Vimla Band, Hamid Band
Cell Signal. Author manuscript; available in PMC 2017 Sep 1.
Published in final edited form as: Cell Signal. 2016 Sep; 28(9): 1325–1335. Published online 2016 May 17. doi: 10.1016/j.cellsig.2016.05.013
Correction in:
Cell Signal. 2016 Dec; 28(12): 1933.
PMCID:
PMC5045265
AbstractArticlePDF–1.3M
19.
Endocytic recycling protein EHD1 regulates primary cilia morphogenesis and SHH signaling during neural tube development
Sohinee Bhattacharyya, Mark A Rainey, Priyanka Arya, Samikshan Dutta, Manju George, Matthew D. Storck, Rodney D. McComb, David Muirhead, Gordon L. Todd, Karen Gould, Kaustubh Datta, Janee Gelineau-van Waes, Vimla Band, Hamid Band
Sci Rep. 2016; 6: 20727. Published online 2016 Feb 17. doi: 10.1038/srep20727
Correction in:
Sci Rep. 2017; 7: 42320.
PMCID:
PMC4756679
AbstractArticlePDF–3.9M
20.
The Endocytic Recycling Regulatory Protein EHD1 Is Required for Ocular Lens Development
Priyanka Arya, Mark A. Rainey, Sohinee Bhattacharyya, Bhopal Mohapatra, Manju George, Murali R Kuracha, Matthew D. Storck, Vimla Band, Venkatesh Govindarajan, Hamid Band
Dev Biol. Author manuscript; available in PMC 2016 Dec 1.
Published in final edited form as: Dev Biol. 2015 Dec 1; 408(1): 41–55. Published online 2015 Oct 9. doi: 10.1016/j.ydbio.2015.10.005
PMCID:
PMC4688215
AbstractArticlePDF–4.2M

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