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Items: 1 to 20 of 59

1.
A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China
Ru-Lai Yang, Gu-Ling Qian, Ding-Wen Wu, Jing-Kun Miao, Xue Yang, Ben-Qing Wu, Ya-Qiong Yan, Hai-Bo Li, Xin-Mei Mao, Jun He, Huan Shen, Hui Zou, Shu-Yuan Xue, Xiao-Ze Li, Ting-Ting Niu, Rui Xiao, Zheng-Yan Zhao
World J Pediatr. 2023; 19(7): 663–673. Published online 2023 Feb 27. doi: 10.1007/s12519-022-00670-x
PMCID:
PMC10258179
ArticlePubReaderPDF–1.2MCite
2.
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
ArticlePubReaderPDF–11MCite
3.
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
ArticlePubReaderPDF–2.1MCite
4.
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy
Allison Tam, Noura Salem AlDhaheri, Krupa Mysore, Mary Elizabeth Tessier, John Goss, Luis A. Fernandez, Anthony M. D'Alessandro, Jessica Scott Schwoerer, Gregory M. Rice, Sarah H. Elsea, Fernando Scaglia
Am J Med Genet A. Author manuscript; available in PMC 2023 Jan 24.
Published in final edited form as: Am J Med Genet A. 2019 Jun; 179(6): 1015–1019. Published online 2019 Mar 12. doi: 10.1002/ajmg.a.61104
PMCID:
PMC9873405
ArticlePubReaderPDF–308KCite
5.
Morphological and molecular characteristics of Sarcocystis bertrami from horses and donkeys in China
Weilin Zeng, Ling Sun, Zheng Xiang, Na Li, Jie Zhang, Yongshu He, Qing Li, Fang Yang, Jingling Song, James Morris, Benjamin M. Rosenthal, Le Sun, Huaie Liu, Zhaoqing Yang
Vet Parasitol. Author manuscript; available in PMC 2022 Nov 11.
Published in final edited form as: Vet Parasitol. 2018 Mar 15; 252: 89–94. Published online 2018 Feb 2. doi: 10.1016/j.vetpar.2018.01.024
PMCID:
PMC9650612
ArticlePubReaderPDF–1.3MCite
6.
18β-glycyrrhetinic acid regulates mitochondrial ribosomal protein L35-associated apoptosis signaling pathways to inhibit proliferation of gastric carcinoma cells
Ling Yuan, Yi Yang, Xia Li, Xin Zhou, Yu-Hua Du, Wen-Jing Liu, Lei Zhang, Lei Yu, Ting-Ting Ma, Jia-Xin Li, Yan Chen, Yi Nan
World J Gastroenterol. 2022 Jun 14; 28(22): 2437–2456. Published online 2022 Jun 14. doi: 10.3748/wjg.v28.i22.2437
PMCID:
PMC9258276
ArticlePubReaderPDF–17MCite
7.
Genetic Effects of NDUFAF6 rs6982393 and APOE on Alzheimer’s Disease in Chinese Rural Elderly: A Cross-Sectional Population-Based Study
Yingzhe Cheng, Yuanjing Li, Xiaoyan Liang, Pin Wang, Wenxin Fa, Cuicui Liu, Yongxiang Wang, Keke Liu, Nan Wang, Yifeng Du
Clin Interv Aging. 2022; 17: 185–194. Published online 2022 Feb 24. doi: 10.2147/CIA.S345784
PMCID:
PMC8884707
ArticlePubReaderPDF–796KCite
8.
Novel heterozygous compound TRMT5 mutations associated with combined oxidative phosphorylation deficiency 26 in a Chinese family: a case report
Shuiyan Wu, Weixi Li, Zhenjiang Bai, Saihu Huang, Daoping Yang, Hongmei Chen, Ying Li, Ying Liu, Haitao Lv
BMC Pediatr. 2022; 22: 74. Published online 2022 Feb 2. doi: 10.1186/s12887-022-03138-z
PMCID:
PMC8808961
ArticlePubReaderPDF–1.8MCite
9.
Lipid reprogramming induced by the TFEB-ERRα axis enhanced membrane fluidity to promote EC progression
Xiaodan Mao, Huifang Lei, Tianjin Yi, Pingping Su, Shuting Tang, Yao Tong, Binhua Dong, Guanyu Ruan, Alexander Mustea, Jalid Sehouli, Pengming Sun
J Exp Clin Cancer Res. 2022; 41: 28. Published online 2022 Jan 19. doi: 10.1186/s13046-021-02211-2
PMCID:
PMC8767755
ArticlePubReaderPDF–6.4MCite
10.
Fungicidal Activity of Recombinant Javanicin against Cryptococcus neoformans Is Associated with Intracellular Target(s) Involved in Carbohydrate and Energy Metabolic Processes
Santhasiri Orrapin, Sittiruk Roytrakul, Narumon Phaonakrop, Siriwan Thaisakun, Khajornsak Tragoolpua, Amornrat Intorasoot, Suzanne McGill, Richard Burchmore, Sorasak Intorasoot
Molecules. 2021 Nov; 26(22): 7011. Published online 2021 Nov 20. doi: 10.3390/molecules26227011
PMCID:
PMC8618071
ArticlePubReaderPDF–2.6MCite
11.
Regulation of Endoplasmic Reticulum–Mitochondria Tethering and Ca2+ Fluxes by TDP-43 via GSK3β
Caterina Peggion, Maria Lina Massimino, Raphael Severino Bonadio, Federica Lia, Raffaele Lopreiato, Stefano Cagnin, Tito Calì, Alessandro Bertoli
Int J Mol Sci. 2021 Nov; 22(21): 11853. Published online 2021 Nov 1. doi: 10.3390/ijms222111853
PMCID:
PMC8584823
ArticlePubReaderPDF–2.4MCite
12.
Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers
Matthias Elstner, Konrad Olszewski, Holger Prokisch, Thomas Klopstock, Marta Murgia
Int J Mol Sci. 2021 Oct; 22(20): 11080. Published online 2021 Oct 14. doi: 10.3390/ijms222011080
PMCID:
PMC8537949
ArticlePubReaderPDF–9.7MCite
13.
Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype
Elena Ignatieva, Natalia Smolina, Anna Kostareva, Renata Dmitrieva
Int J Mol Sci. 2021 Jul; 22(14): 7349. Published online 2021 Jul 8. doi: 10.3390/ijms22147349
PMCID:
PMC8307986
ArticlePubReaderPDF–866KCite
14.
Machine learning compensates fold-change method and highlights oxidative phosphorylation in the brain transcriptome of Alzheimer’s disease
Jack Cheng, Hsin-Ping Liu, Wei-Yong Lin, Fuu-Jen Tsai
Sci Rep. 2021; 11: 13704. Published online 2021 Jul 1. doi: 10.1038/s41598-021-93085-z
PMCID:
PMC8249453
ArticlePubReaderPDF–1.1MCite
15.
Therapy Prospects for Mitochondrial DNA Maintenance Disorders
Javier Ramón, Ferran Vila-Julià, David Molina-Granada, Miguel Molina-Berenguer, Maria Jesús Melià, Elena García-Arumí, Javier Torres-Torronteras, Yolanda Cámara, Ramon Martí
Int J Mol Sci. 2021 Jun; 22(12): 6447. Published online 2021 Jun 16. doi: 10.3390/ijms22126447
PMCID:
PMC8234938
ArticlePubReaderPDF–973KCite
16.
Football and team handball training postpone cellular aging in women
Marie Hagman, Bjørn Fristrup, Rémi Michelin, Peter Krustrup, Muhammad Asghar
Sci Rep. 2021; 11: 11733. Published online 2021 Jun 3. doi: 10.1038/s41598-021-91255-7
PMCID:
PMC8175448
ArticlePubReaderPDF–1.4MCite
17.
Combined Transcriptomic and Proteomic Analysis of Perk Toxicity Pathways
Rebeka Popovic, Ivana Celardo, Yizhou Yu, Ana C. Costa, Samantha H. Y. Loh, L. Miguel Martins
Int J Mol Sci. 2021 May; 22(9): 4598. Published online 2021 Apr 27. doi: 10.3390/ijms22094598
PMCID:
PMC8124185
ArticlePubReaderPDF–6.1MCite
18.
Metabolic Factors Affecting Tumor Immunogenicity: What Is Happening at the Cellular Level?
Rola El Sayed, Yolla Haibe, Ghid Amhaz, Youssef Bouferraa, Ali Shamseddine
Int J Mol Sci. 2021 Feb; 22(4): 2142. Published online 2021 Feb 21. doi: 10.3390/ijms22042142
PMCID:
PMC7927105
ArticlePubReaderPDF–2.5MCite
19.
African Mitochondrial DNA Haplogroup L2 Is Associated With Slower Decline of β-cell Function and Lower Incidence of Diabetes Mellitus in Non-Hispanic, Black Women Living With Human Immunodeficiency Virus
Jing Sun, Todd T Brown, Weiqun Tong, David Samuels, Phyllis Tien, Brahim Aissani, Bradley Aouizerat, Maria Villacres, Mark H Kuniholm, Deborah Gustafson, Katherine Michel, Mardge Cohen, Michael Schneider, Adaora A Adimora, Mohammed K Ali, Hector Bolivar, Todd Hulgan
Clin Infect Dis. 2020 Oct 15; 71(8): e218–e225. Published online 2020 Jan 12. doi: 10.1093/cid/ciaa026
PMCID:
PMC7755007
ArticlePubReaderPDF–367KCite
20.
Phylogenetic Affinities of Uvulifer Spp. (Digenea: Diplostomidae) in the Americas with Description of Two New Species from Peruvian Amazon
Tyler J. Achatz, Stephen S. Curran, Kaylyn F. Patitucci, Alan Fecchio, Vasyl V. Tkach
J Parasitol. 2019 Oct; 105(5): 704–717. Published online 2019 Oct 4. doi: 10.1645/19-61
PMCID:
PMC7584121
ArticlePubReaderPDF–1.6MCite

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