PMC Articles for MedGen (Select 322999) - PMC

Gayane Hrachia Buniatian, Ute Schwinghammer, Roman Tremmel, Holger Cynis, Thomas S. Weiss, Ralf Weiskirchen, Volker M. Lauschke, Sonia Youhanna, Isbaal Ramos, Maria Valcarcel, Torgom Seferyan, Jens‐Ulrich Rahfeld, Vera Rieckmann, Kathrin Klein, Marine Buadze, Victoria Weber, Valentina Kolak, Rolf Gebhardt, Scott L. Friedman, Ulrike C. Müller, Matthias Schwab, Lusine Danielyan

Adv Sci (Weinh) 2024 May; 11(18): 2307734. Published online 2024 Mar 2. doi: 10.1002/advs.202307734

PMCID:: PMC11095235

Abstract Article PDF–19M

Select item 110017204.

Redescription and Molecular Characterisation of Derogenes ruber Lühe, 1900 (Hemiuroidea: Derogenidae) from Chelidonichthys lastoviza (Scorpaeniformes: Triglidae) in the Western Mediterranean

Kamilia Gharbi, Chahinez Bouguerche, Mohammed Ahmed, Gerardo Pérez-Ponce de León, Fadila Tazerouti

Acta Parasitol. 2024; 69(1): 309–323. Published online 2023 Dec 8. doi: 10.1007/s11686-023-00749-z

PMCID:: PMC11001720

Abstract Article PDF–2.0M

Select item 109531125.

A partial Drp1 knockout improves autophagy flux independent of mitochondrial function

Rebecca Z. Fan, Carolina Sportelli, Yanhao Lai, Said S. Salehe, Jennifer R. Pinnell, Harry J. Brown, Jason R. Richardson, Shouqing Luo, Kim Tieu

Mol Neurodegener. 2024; 19: 26. Published online 2024 Mar 19. doi: 10.1186/s13024-024-00708-w

PMCID:: PMC10953112

Abstract Article PDF–12M

Select item 109194586.

Chronological change of left ventricular global longitudinal strain in patients with maternally inherited diabetes and deafness: A case series

Jeong-Sook Seo

Medicine (Baltimore) 2024 Mar 8; 103(10): e37447. Published online 2024 Mar 8. doi: 10.1097/MD.0000000000037447

PMCID:: PMC10919458

Abstract Article PDF–990K

Select item 108580767.

The human OPA1^delTTAG mutation induces adult onset and progressive auditory neuropathy in mice

Corentin Affortit, Carolanne Coyat, Anissa Rym Saidia, Jean-Charles Ceccato, Majida Charif, Emmanuelle Sarzi, Frédéric Flamant, Romain Guyot, Chantal Cazevieille, Jean-Luc Puel, Guy Lenaers, Jing Wang

Cell Mol Life Sci. 2024 Dec; 81(1): 80. Published online 2024 Feb 9. doi: 10.1007/s00018-024-05115-4

PMCID:: PMC10858076

Abstract Article PDF–15M

Select item 107077308.

Molecular Analysis of Dihydropteroate Synthase Gene Mutations in Pneumocystis jirovecii Isolates among Bulgarian Patients with Pneumocystis Pneumonia

Nina Tsvetkova, Rumen Harizanov, Iskra Rainova, Aleksandra Ivanova, Nina Yancheva-Petrova

Int J Mol Sci. 2023 Dec; 24(23): 16927. Published online 2023 Nov 29. doi: 10.3390/ijms242316927

PMCID:: PMC10707730

Abstract Article PDF–3.3M

Select item 106576839.

Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1

Valeria Di Leo, Conor Lawless, Marie-Pier Roussel, Tiago B. Gomes, Gráinne S. Gorman, Oliver M. Russell, Helen A.L. Tuppen, Elise Duchesne, Amy E. Vincent

J Neuromuscul Dis. 2023; 10(6): 1111–1126. Prepublished online 2023 Aug 25. Published online 2023 Nov 7. doi: 10.3233/JND-230099

PMCID:: PMC10657683

Abstract Article PDF–955K

Select item 1054576610.

Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54

Thomas B. Smith, Alessandro Rea, Huw B. Thomas, Kyle Thompson, Monika Oláhová, Reza Maroofian, Mina Zamani, Langping He, Saeid Sadeghian, Hamid Galehdari, Nava Shaul Lotan, Tal Gilboa, Kristin C. Herman, Thomas J. McCorvie, Wyatt W. Yue, Henry Houlden, Robert W. Taylor, William G. Newman, Raymond T. O’Keefe

Eur J Hum Genet. 2023 Oct; 31(10): 1190–1194. Published online 2023 Aug 9. doi: 10.1038/s41431-023-01437-2

PMCID:: PMC10545766

Abstract Article PDF–1.4M

Select item 1047430211.

Alternative oxidase causes cell type- and tissue-specific responses in mutator mice

Lilli Ikonen, Sini Pirnes-Karhu, Swagat Pradhan, Howard T Jacobs, Marten Szibor, Anu Suomalainen

Life Sci Alliance. 2023 Nov; 6(11): e202302036. Published online 2023 Sep 1. doi: 10.26508/lsa.202302036

PMCID:: PMC10474302

Abstract Article PDF–2.4M

Select item 1022625612.

GRP78/BiP alleviates oxLDL-induced hepatotoxicity in familial hypercholesterolemia caused by missense variants of LDLR in a HepG2 cellular model

Divya Saro Varghese, Deepu Oommen, Anne John, Bassam R. Ali

Lipids Health Dis. 2023; 22: 69. Published online 2023 May 29. doi: 10.1186/s12944-023-01835-x

PMCID:: PMC10226256

Abstract Article PDF–11M

Select item 1017354113.

β-arrestin1 regulates astrocytic reactivity via Drp1-dependent mitochondrial fission: implications in postoperative delirium

Fuzhou Hua, Hong Zhu, Wen Yu, Qingcui Zheng, Lieliang Zhang, Weidong Liang, Yue Lin, Fan Xiao, Pengcheng Yi, Yanhong Xiong, Yao Dong, Hua Li, Lanran Fang, Hailin Liu, Jun Ying, Xifeng Wang

J Neuroinflammation. 2023; 20: 113. Published online 2023 May 11. doi: 10.1186/s12974-023-02794-x

PMCID:: PMC10173541

Abstract Article PDF–17M

Select item 1015439914.

Nono deficiency impedes the proliferation and adhesion of H9c2 cardiomyocytes through Pi3k/Akt signaling pathway

Yu-Qing Lei, Zhou-Jie Ye, Ya-Lan Wei, Li-Ping Zhu, Xu-Dong Zhuang, Xin-Rui Wang, Hua Cao

Sci Rep. 2023; 13: 7134. Published online 2023 May 2. doi: 10.1038/s41598-023-32572-x

PMCID:: PMC10154399

Abstract Article PDF–8.0M

Select item 1012730515.

Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova

Orphanet J Rare Dis. 2023; 18: 92. Published online 2023 Apr 24. doi: 10.1186/s13023-023-02689-3

PMCID:: PMC10127305

Abstract Article PDF–1.6M

Select item 1004840616.

Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review

Qin Zhang, Qianqian Ouyang, Jingjing Xiang, Hong Li, Haitao Lv, Yu An

Genes (Basel) 2023 Mar; 14(3): 552. Published online 2023 Feb 22. doi: 10.3390/genes14030552

PMCID:: PMC10048406

Abstract Article PDF–2.1M

Select item 982968717.

Protein KIC5 is a novel regulator of artemisinin stress response in the malaria parasite Plasmodium falciparum

Caroline F. Simmons, Justin Gibbons, Min Zhang, Jenna Oberstaller, Camilla Valente Pires, Debora Casandra, Chengqi Wang, Andreas Seyfang, Thomas D. Otto, Julian C. Rayner, John H. Adams

Sci Rep. 2023; 13: 399. Published online 2023 Jan 9. doi: 10.1038/s41598-023-27417-6

PMCID:: PMC9829687

Abstract Article PDF–4.3M

Select item 930829718.

Characterization of cardiac metabolism in iPSC-derived cardiomyocytes: lessons from maturation and disease modeling

Sofija Vučković, Rafeeh Dinani, Edgar E. Nollet, Diederik W. D. Kuster, Jan Willem Buikema, Riekelt H. Houtkooper, Miranda Nabben, Jolanda van der Velden, Birgit Goversen

Stem Cell Res Ther. 2022; 13: 332. Published online 2022 Jul 23. doi: 10.1186/s13287-022-03021-9

PMCID:: PMC9308297

Abstract Article PDF–3.3M

Select item 903755519.

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy

Celine Deneubourg, Mauricio Ramm, Luke J. Smith, Olga Baron, Kritarth Singh, Susan C. Byrne, Michael R. Duchen, Mathias Gautel, Eeva-Liisa Eskelinen, Manolis Fanto, Heinz Jungbluth

Autophagy. 2022; 18(3): 496–517. Published online 2021 Aug 19. doi: 10.1080/15548627.2021.1943177

PMCID:: PMC9037555

Abstract Article PDF–2.0M

Select item 898530720.

PPFIA4 promotes castration-resistant prostate cancer by enhancing mitochondrial metabolism through MTHFD2

Ru Zhao, Tingting Feng, Lin Gao, Feifei Sun, Qianqian Zhou, Xin Wang, Junmei Liu, Wenbo Zhang, Meng Wang, Xueting Xiong, Wenqiao Jia, Weiwen Chen, Lin Wang, Bo Han

J Exp Clin Cancer Res. 2022; 41: 125. Published online 2022 Apr 5. doi: 10.1186/s13046-022-02331-3