PMC Articles for MedGen (Select 373124) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 500

<< First< Prev

Page of 25

Select item 117241101.

Palmitoylation by ZDHHC4 inhibits TRPV1-mediated nociception

Youjing Zhang, Mengyu Zhang, Cheng Tang, Junyan Hu, Xufeng Cheng, Yang Li, Zefeng Chen, Yuan Yin, Chang Xie, Dongdong Li, Jing Yao

EMBO Rep. 2025 Jan; 26(1): 101–121. Published online 2024 Nov 11. doi: 10.1038/s44319-024-00317-0

PMCID:: PMC11724110

Abstract Article PDF–4.9M

Select item 117236592.

Arginase-II gene deficiency reduces skeletal muscle aging in mice

Matteo Caretti, Duilio Michele Potenza, Guillaume Ajalbert, Urs Albrecht, Xiu-Fen Ming, Andrea Brenna, Zhihong Yang

Aging (Albany NY) 2024 Dec 31; 16(22): 13563–13587. Published online 2024 Dec 12. doi: 10.18632/aging.206173

PMCID:: PMC11723659

Abstract Article PDF–3.3M

Select item 117206613.

Role of PI3 Kinases in Cell Signaling and Soleus Muscle Atrophy During Three Days of Unloading

Ksenia A. Zaripova, Svetlana P. Belova, Tatiana Y. Kostrominova, Boris S. Shenkman, Tatiana L. Nemirovskaya

Int J Mol Sci. 2025 Jan; 26(1): 414. Published online 2025 Jan 6. doi: 10.3390/ijms26010414

PMCID:: PMC11720661

Abstract Article PDF–3.8M

Select item 117204534.

Loss of CHOP Prevents Joint Degeneration and Pain in a Mouse Model of Pseudoachondroplasia

Jacqueline T. Hecht, Alka C. Veerisetty, Mohammad G. Hossain, Debabrata Patra, Michele Carrer, Frankie Chiu, Dorde Relic, Paymaan Jafar-nejad, Karen L. Posey

Int J Mol Sci. 2025 Jan; 26(1): 16. Published online 2024 Dec 24. doi: 10.3390/ijms26010016

PMCID:: PMC11720453

Abstract Article PDF–6.0M

Select item 117203205.

Beyond the Synapse: FMR1 and FMRP Molecular Mechanisms in the Nucleus

Nicole Hansen, Anna Dischler, Caroline Dias

Int J Mol Sci. 2025 Jan; 26(1): 214. Published online 2024 Dec 30. doi: 10.3390/ijms26010214

PMCID:: PMC11720320

Abstract Article PDF–2.2M

Select item 117175876.

Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic

Nicole R. Wong, Alexandra Klomhaus, David J. Adams, Benjamin N. Schneider, Sunil Mehta, Charlotte DiStefano, Rujuta B. Wilson, Julian A. Martinez-Agosto, Shafali S. Jeste, Aaron D. Besterman

Genet Med. Author manuscript; available in PMC 2025 Jan 10.

Published in final edited form as: Genet Med. 2025 Jan; 27(1): 101252. Published online 2024 Oct 11. doi: 10.1016/j.gim.2024.101252

PMCID:: PMC11717587

Abstract Article PDF–634K

Select item 117154457.

Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families

Yang Cao, Xiaolong Zhang, Lan Lan, Danyang Li, Jin Li, Linyi Xie, Fen Xiong, Lan Yu, Xiaonan Wu, Hongyang Wang, Qiuju Wang

Orphanet J Rare Dis. 2025; 20: 11. Published online 2025 Jan 8. doi: 10.1186/s13023-025-03540-7

PMCID:: PMC11715445

Abstract Article PDF–8.4M

Select item 117154148.

Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay

Jianxin Tan, Mingtao Huang, Xiuqing Ji, An Liu, Fengchang Qiao, Cuiping Zhang, Lulu Meng, Yan Wang, Zhengfeng Xu, Ping Hu

BMC Pediatr. 2025; 25: 18. Published online 2025 Jan 9. doi: 10.1186/s12887-024-05267-z

PMCID:: PMC11715414

Abstract Article PDF–1.9M

Select item 117114989.

STAC3 disorder: a common cause of congenital hypotonia in Southern African patients

Fahmida Essop, Bronwyn Dillon, Felicity Mhlongo, Louisa Bhengu, Thirona Naicker, Lindsay Lambie, Liani Smit, Karen Fieggen, Anneline Lochan, Jessica Dawson, Phelelani Mpangase, Marc Hauptfleisch, Gail Scher, Odirile Tabane, Marelize Immelman, Michael Urban, Amanda Krause

Eur J Hum Genet. 2025 Jan; 33(1): 14–23. Published online 2024 Jun 1. doi: 10.1038/s41431-024-01644-5

Correction in:: Eur J Hum Genet. 2024 Jul 30

PMCID:: PMC11711498

Abstract Article PDF–1.1M

Select item 1171131610.

Biochemical and structural characterization of Rab3GAP reveals insights into Rab18 nucleotide exchange activity

Gage M. J. Fairlie, Kha M. Nguyen, Sung-Eun Nam, Alexandria L. Shaw, Matthew A. H. Parson, Hannah R. Shariati, Xinyin Wang, Meredith L. Jenkins, Michael Gong, John E. Burke, Calvin K. Yip

Nat Commun. 2025; 16: 479. Published online 2025 Jan 8. doi: 10.1038/s41467-025-55828-8

PMCID:: PMC11711316

Abstract Article PDF–2.8M

Select item 1170943311.

Interneuron FGF13 regulates seizure susceptibility via a sodium channel-independent mechanism

Susan Lin, Aravind R Gade, Hong-Gang Wang, James E Niemeyer, Allison Galante, Isabella DiStefano, Patrick Towers, Jorge Nunez, Maiko Matsui, Theodore H Schwartz, Anjali Rajadhyaksha, Geoffrey S Pitt

eLife. 2025; 13: RP98661. Published online 2025 Jan 8. doi: 10.7554/eLife.98661

PMCID:: PMC11709433

Abstract Article PDF–7.8M

Select item 1170785812.

Dystonia caused by ANO3 variants is due to attenuated Ca²⁺ influx by ORAI1

Jiraporn Ousingsawat, Khaoula Talbi, Hilario Gómez-Martín, Anne Koy, Alberto Fernández-Jaén, Hasan Tekgül, Esra Serdaroğlu, Juan Darío Ortigoza-Escobar, Rainer Schreiber, Karl Kunzelmann

BMC Med. 2025; 23: 12. Published online 2025 Jan 7. doi: 10.1186/s12916-024-03839-5