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Items: 1 to 20 of 316

1.
TGFβ Signaling Dysregulation May Contribute to COL4A1-Related Glaucomatous Optic Nerve Damage
Mao Mao, Yien-Ming Kuo, Alfred K. Yu, Cassandre Labelle-Dumais, Yvonne Ou, Douglas B. Gould
Invest Ophthalmol Vis Sci. 2024 May; 65(5): 15. Published online 2024 May 8. doi: 10.1167/iovs.65.5.15
PMCID:
PMC11090142
AbstractArticlePDF–13M
2.
A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis
Lana Vukadin, Bohye Park, Mostafa Mohamed, Huashi Li, Amr Elkholy, Alex Torrelli-Diljohn, Jung-Hyun Kim, Kyuho Jeong, James M. Murphy, Caitlin A. Harvey, Sophia Dunlap, Leah Gehrs, Hanna Lee, Hyung-Gyoon Kim, Jay Prakash Sah, Seth N. Lee, Denise Stanford, Robert A. Barrington, Jeremy B. Foote, Anna G. Sorace, Robert S. Welner, Blake E. Hildreth, III, Ssang-Taek Steve Lim, Eun-Young Erin Ahn
JCI Insight. 2024 Mar 8; 9(5): e175053. Published online 2024 Jan 30. doi: 10.1172/jci.insight.175053
PMCID:
PMC10972584
AbstractArticlePDF–5.3M
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.
Developmental expression of the Sturge–Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle's paradominant inheritance hypothesis
Sarah E Wetzel-Strong, Francesca Galeffi, Christian Benavides, Mary Patrucco, Jessica L Bullock, Carol J Gallione, Han Kyu Lee, Douglas A Marchuk
Genetics. 2023 Aug; 224(4): iyad077. Published online 2023 Apr 25. doi: 10.1093/genetics/iyad077
PMCID:
PMC10894004
AbstractArticlePDF–6.8M
5.
IL-31-dependent neurogenic inflammation restrains cutaneous type 2 immune cell accumulation and cytokine production in allergic dermatitis
Marlys S. Fassett, Joao M. Braz, Carlos A. Castellanos, Juan J. Salvatierra, Mahsa Sadeghi, Xiaobing Yu, Andrew W. Schroeder, Jaela Caston, Priscila Munoz-Sandoval, Suparna Roy, Steven Lazarevsky, Darryl J. Mar, Connie J. Zhou, Jeoung-Sook Shin, Allan I. Basbaum, K. Mark Ansel
Sci Immunol. Author manuscript; available in PMC 2024 Apr 20.
Published in final edited form as: Sci Immunol. 2023 Oct 20; 8(88): eabi6887. Published online 2023 Oct 13. doi: 10.1126/sciimmunol.abi6887
PMCID:
PMC10890830
AbstractArticlePDF–2.5M
6.
Smith–Magenis syndrome protein RAI1 regulates body weight homeostasis through hypothalamic BDNF-producing neurons and neurotrophin downstream signalling
Sehrish Javed, Ya-Ting Chang, Yoobin Cho, Yu-Ju Lee, Hao-Cheng Chang, Minza Haque, Yu Cheng Lin, Wei-Hsiang Huang
eLife. 2023; 12: RP90333. Published online 2023 Nov 13. doi: 10.7554/eLife.90333
PMCID:
PMC10642964
AbstractArticlePDF–2.7M
7.
The TMEM106B T186S coding variant increases neurite arborization and synaptic density in primary hippocampal neurons
Quynh Nguyen, Caleb A. Wood, Peter J. Kim, Joanna L. Jankowsky
Front Neurosci. 2023; 17: 1275959. Published online 2023 Oct 13. doi: 10.3389/fnins.2023.1275959
PMCID:
PMC10603297
AbstractArticlePDF–1.3M
8.
Uptake of tumor-derived microparticles induces metabolic reprogramming of macrophages in the early metastatic lung
Kelly Kersten, Ran You, Sophia Liang, Kevin M. Tharp, Joshua Pollack, Valerie M. Weaver, Matthew F. Krummel, Mark B. Headley
Cell Rep. Author manuscript; available in PMC 2023 Oct 23.
Published in final edited form as: Cell Rep. 2023 Jun 27; 42(6): 112582. Published online 2023 May 31. doi: 10.1016/j.celrep.2023.112582
PMCID:
PMC10592447
AbstractArticlePDF–1.1M
9.
The MOV10 RNA helicase is a dosage-dependent host restriction factor for LINE1 retrotransposition in mice
Yongjuan Guan, Hongyan Gao, N. Adrian Leu, Anastassios Vourekas, Panagiotis Alexiou, Manolis Maragkakis, Zhenlong Kang, Zissimos Mourelatos, Guanxiang Liang, P. Jeremy Wang
PLoS Genet. 2023 May; 19(5): e1010566. Published online 2023 May 1. doi: 10.1371/journal.pgen.1010566
PMCID:
PMC10174503
AbstractArticlePDF–2.7M
10.
An in vivo model for elucidating the role of an erythroid-specific isoform of nuclear export protein Exportin 7 (Xpo7) in murine erythropoiesis
Susree Modepalli, Sandra Martinez-Morilla, Srividhya Venkatesan, James Fasano, Katerina Paulsen, Dirk Görlich, Shilpa Hattangadi, Gary M. Kupfer
Exp Hematol. Author manuscript; available in PMC 2023 Oct 1.
Published in final edited form as: Exp Hematol. 2022 Oct; 114: 22–32. Published online 2022 Aug 13. doi: 10.1016/j.exphem.2022.08.001
PMCID:
PMC10165728
AbstractArticlePDF–1.5M
11.
A luciferase reporter mouse model to optimize in vivo gene editing validated by lipid nanoparticle delivery of adenine base editors
Si-Yue Yu, Tiffany Carlaw, Tyler Thomson, Alexandra Birkenshaw, Genc Basha, Daniel Kurek, Cassie Huang, Jayesh Kulkarni, Lin-Hua Zhang, Colin J.D. Ross
Mol Ther. 2023 Apr 5; 31(4): 1159–1166. Published online 2023 Feb 15. doi: 10.1016/j.ymthe.2023.02.009
PMCID:
PMC10124072
AbstractArticlePDF–1.5M
12.
Analysis of a genetic region affecting mouse body weight
Connie L. K. Leung, Subashini Karunakaran, Michael G. Atser, Leyla Innala, Xiaoke Hu, Victor Viau, James D. Johnson, Susanne M. Clee
Physiol Genomics. 2023 Mar 1; 55(3): 132–146. Published online 2023 Jan 30. doi: 10.1152/physiolgenomics.00137.2022
PMCID:
PMC10042608
AbstractArticle
13.
Hypomorphic and dominant-negative impact of truncated SOX9 dysregulates Hedgehog–Wnt signaling, causing campomelia
Tiffany Y. K. Au, Raymond K. H. Yip, Sarah L. Wynn, Tiong Y. Tan, Alex Fu, Yu Hong Geng, Irene Y. Y. Szeto, Ben Niu, Kevin Y. Yip, Martin C. H. Cheung, Robin Lovell-Badge, Kathryn S. E. Cheah
Proc Natl Acad Sci U S A. 2023 Jan 3; 120(1): e2208623119. Published online 2022 Dec 30. doi: 10.1073/pnas.2208623119
PMCID:
PMC9910594
AbstractArticlePDF–4.0M
14.
A role for BCL2L13 and autophagy in germline purifying selection of mtDNA
Laura S. Kremer, Lyuba V. Bozhilova, Diana Rubalcava-Gracia, Roberta Filograna, Mamta Upadhyay, Camilla Koolmeister, Patrick F. Chinnery, Nils-Göran Larsson
PLoS Genet. 2023 Jan; 19(1): e1010573. Published online 2023 Jan 6. doi: 10.1371/journal.pgen.1010573
PMCID:
PMC9851501
AbstractArticlePDF–1.4M
15.
SOX9 and SOX10 control fluid homeostasis in the inner ear for hearing through independent and cooperative mechanisms
Irene Y. Y. Szeto, Daniel K. H. Chu, Peikai Chen, Ka Chi Chu, Tiffany Y. K. Au, Keith K. H. Leung, Yong-Heng Huang, Sarah L. Wynn, Angel C. Y. Mak, Ying-Shing Chan, Wood Yee Chan, Ralf Jauch, Bernd Fritzsch, Mai Har Sham, Robin Lovell-Badge, Kathryn S. E. Cheah
Proc Natl Acad Sci U S A. 2022 Nov 15; 119(46): e2122121119. Published online 2022 Nov 7. doi: 10.1073/pnas.2122121119
PMCID:
PMC9674217
AbstractArticlePDF–2.7M
16.
The HUSH complex controls brain architecture and protocadherin fidelity
Astrid Hagelkruys, Marion Horrer, Jasmin Taubenschmid-Stowers, Anoop Kavirayani, Maria Novatchkova, Michael Orthofer, Tsung-Pin Pai, Domagoj Cikes, Sergei Zhuk, Meritxell Balmaña, Christopher Esk, Rubina Koglgruber, Paul Moeseneder, Jelena Lazovic, Lydia M. Zopf, Shane J.F. Cronin, Ulrich Elling, Jürgen A. Knoblich, Josef M. Penninger
Sci Adv. 2022 Nov; 8(44): eabo7247. Published online 2022 Nov 4. doi: 10.1126/sciadv.abo7247
PMCID:
PMC9635835
AbstractArticlePDF–1.8M
17.
Establishment of fetomaternal tolerance through glycan-mediated B cell suppression
G. Rizzuto, J. F. Brooks, S. T. Tuomivaara, T. I. McIntyre, S. Ma, D. Rideaux, J. Zikherman, S. J. Fisher, A. Erlebacher
Nature. Author manuscript; available in PMC 2022 Oct 25.
Published in final edited form as: Nature. 2022 Mar; 603(7901): 497–502. Published online 2022 Mar 2. doi: 10.1038/s41586-022-04471-0
PMCID:
PMC9592526
AbstractArticlePDF–4.4M
18.
OFCD Syndrome and Extraembryonic Defects are Revealed by Conditional Mutation of the Polycomb-group Repressive Complex 1.1 (PRC1.1) Gene Bcor
Michelle Y. Hamline, Connie M. Corcoran, Joseph A. Wamstad, Isabelle Miletich, Jifan Feng, Jamie L. Lohr, Myriam Hemberger, Paul T. Sharpe, Micah D. Gearhart, Vivian J. Bardwell
Dev Biol. Author manuscript; available in PMC 2022 Oct 20.
Published in final edited form as: Dev Biol. 2020 Dec 1; 468(1-2): 110–132. Published online 2020 Jul 18. doi: 10.1016/j.ydbio.2020.06.013
PMCID:
PMC9583620
AbstractArticlePDF–4.9M
19.
Oncomodulin (OCM) uniquely regulates calcium signaling in neonatal cochlear outer hair cells
Kaitlin E. Murtha, Yang Yang, Federico Ceriani, Jing-Yi Jeng, Leslie K. Climer, Forrest Jones, Jack Charles, Sai K. Devana, Aubrey J. Hornak, Walter Marcotti, Dwayne D. Simmons
Cell Calcium. 2022 Jul; 105: 102613. doi: 10.1016/j.ceca.2022.102613
PMCID:
PMC9297295
AbstractArticle
20.
miR-205 is a critical regulator of lacrimal gland development
D’Juan T. Farmer, Jennifer K. Finley, Feeling Y. Chen, Estefania Tarifeño-Saldivia, Nancy A. McNamara, Sarah M. Knox, Michael T. McManus
Dev Biol. Author manuscript; available in PMC 2022 Jul 12.
Published in final edited form as: Dev Biol. 2017 Jul 1; 427(1): 12–20. Published online 2017 May 13. doi: 10.1016/j.ydbio.2017.05.012
PMCID:
PMC9276161
AbstractArticlePDF–1.4M

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