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Year Number of Results
1999 1
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2008 6
2009 3
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2012 5
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148 results

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Page 1
Mitochondria-associated membrane protein PACS2 maintains right cardiac function in hypobaric hypoxia.
Yang J, Sun M, Chen R, Ye X, Wu B, Liu Z, Zhang J, Gao X, Cheng R, He C, He J, Wang X, Huang L. Yang J, et al. iScience. 2023 Mar 5;26(4):106328. doi: 10.1016/j.isci.2023.106328. eCollection 2023 Apr 21. iScience. 2023. PMID: 36968068 Free PMC article.
Pacs2 overexpression reversed these effects. Cardiac-specific knockout of Pacs2 exacerbated mitophagy inhibition, cardiomyocyte injury, and right cardiac dysfunction induced by HH. Conditional knock-in of Pacs2 recovered HH-induced right cardiac impairment. T
Pacs2 overexpression reversed these effects. Cardiac-specific knockout of Pacs2 exacerbated mitophagy inhibition, cardiomyocyt
Expanding the clinical spectrum associated with PACS2 mutations.
Dentici ML, Barresi S, Niceta M, Ciolfi A, Trivisano M, Bartuli A, Digilio MC, Specchio N, Dallapiccola B, Tartaglia M. Dentici ML, et al. Clin Genet. 2019 Apr;95(4):525-531. doi: 10.1111/cge.13516. Epub 2019 Feb 28. Clin Genet. 2019. PMID: 30684285 Review.
We provide a detailed clinical characterization of this patient, and analyse the available clinical data of individuals with PACS2 mutations to delineate more accurately the clinical spectrum associated with this recently described syndrome. Our study expands the clinical …
We provide a detailed clinical characterization of this patient, and analyse the available clinical data of individuals with PACS2 mu …
AKT/PACS2 Participates in Renal Vascular Hyperpermeability by Regulating Endothelial Fatty Acid Oxidation in Diabetic Mice.
Shu Z, Chen S, Xiang H, Wu R, Wang X, Ouyang J, Zhang J, Liu H, Chen AF, Lu H. Shu Z, et al. Front Pharmacol. 2022 Jul 5;13:876937. doi: 10.3389/fphar.2022.876937. eCollection 2022. Front Pharmacol. 2022. PMID: 35865947 Free PMC article.
However, these changes in fatty acid metabolism were rescued by silencing PACS2. In conclusion, PACS2 participates in renal vascular hyperpermeability and glomerulosclerosis by regulating the FAO of diabetic mice. Targeting PACS2 is potential new strategy for …
However, these changes in fatty acid metabolism were rescued by silencing PACS2. In conclusion, PACS2 participates in renal va …
PACS2 is required for ox-LDL-induced endothelial cell apoptosis by regulating mitochondria-associated ER membrane formation and mitochondrial Ca(2+) elevation.
Yu S, Zhang L, Liu C, Yang J, Zhang J, Huang L. Yu S, et al. Exp Cell Res. 2019 Jun 15;379(2):191-202. doi: 10.1016/j.yexcr.2019.04.002. Epub 2019 Apr 7. Exp Cell Res. 2019. PMID: 30970236
Besides, ox-LDL promoted PACS2 localization at mitochondria as well as ER-mitochondria contacts at 2 h. Not only that, ox-LDL upregulated PACS2 expression at 24 h. Furthermore, silencing PACS2 inhibited ox-LDL-induced mitochondrial localization of PACS2
Besides, ox-LDL promoted PACS2 localization at mitochondria as well as ER-mitochondria contacts at 2 h. Not only that, ox-LDL upregul …
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Sakaguchi Y, Yoshihashi H, Uehara T, Miyama S, Kosaki K, Takenouchi T. Sakaguchi Y, et al. Am J Med Genet A. 2021 Mar;185(3):884-888. doi: 10.1002/ajmg.a.62020. Epub 2020 Dec 27. Am J Med Genet A. 2021. PMID: 33369122 Review.
We report a male adult with early infantile-onset epilepsy, facial dysmorphism, and iridal and choroidal coloboma who had a de novo heterozygous mutation in PACS2, that is, c.625G > A p.(Glu209Lys). This specific mutation was previously reported in a patient with PAC
We report a male adult with early infantile-onset epilepsy, facial dysmorphism, and iridal and choroidal coloboma who had a de novo heterozy …
PACS2-TRPV1 axis is required for ER-mitochondrial tethering during ER stress and lung fibrosis.
Knoell J, Chillappagari S, Knudsen L, Korfei M, Dartsch R, Jonigk D, Kuehnel MP, Hoetzenecker K, Guenther A, Mahavadi P. Knoell J, et al. Cell Mol Life Sci. 2022 Feb 25;79(3):151. doi: 10.1007/s00018-022-04189-2. Cell Mol Life Sci. 2022. PMID: 35212819 Free PMC article.
We here demonstrate that ER-mitochondrial tethering is reduced upon experimental ER stress in vitro and in the IPF AECII ex vivo, and this is-at least in part-due to decreased phosphofurin acidic cluster sorting protein 2 (PACS-2, also called PACS2) protein levels. PACS
We here demonstrate that ER-mitochondrial tethering is reduced upon experimental ER stress in vitro and in the IPF AECII ex vivo, and this i …
Long-Term Outcome of Neonatal Seizure with PACS2 Mutation: Case Series and Literature Review.
Chou IJ, Hou JY, Fan WL, Tsai MH, Lin KL. Chou IJ, et al. Children (Basel). 2023 Mar 26;10(4):621. doi: 10.3390/children10040621. Children (Basel). 2023. PMID: 37189870 Free PMC article.
Phosphofurin Acidic Cluster Sorting Protein 2 (PACS2)-related early infantile developmental and epileptic encephalopathy (EIDEE) is a rare neurodevelopmental disorder. ...Whole exome sequencing revealed a de novo heterozygous missense variant in all three patients in the p …
Phosphofurin Acidic Cluster Sorting Protein 2 (PACS2)-related early infantile developmental and epileptic encephalopathy (EIDEE) is a …
[Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].
Wu MJ, Hu CH, Ma JH, Hu JS, Liu ZS, Sun D. Wu MJ, et al. Zhonghua Er Ke Za Zhi. 2021 Jul 2;59(7):594-599. doi: 10.3760/cma.j.cn112140-20201122-01047. Zhonghua Er Ke Za Zhi. 2021. PMID: 34405643 Review. Chinese.
A literature search with "PACS2 gene" "PACS2" "epileptic encephalopathy, early infantile, 66" and"early infantile epileptic encephalopathy 66" as key words was conducted at PubMed, China National Knowledge Infrastructure (CNKI), and Wanfang Data Knowledge Service Pl …
A literature search with "PACS2 gene" "PACS2" "epileptic encephalopathy, early infantile, 66" and"early infantile epileptic en …
PACS2 pathogenic variant associated with malformation of cortical development and epilepsy.
Checri R, Dozières-Puyravel B, Elmaleh-Bergès M, Verloes A, Auvin S. Checri R, et al. Epileptic Disord. 2024 Apr;26(2):215-218. doi: 10.1002/epd2.20184. Epub 2023 Dec 15. Epileptic Disord. 2024. PMID: 38031819
PACS2 pathogenic variants are associated with an autosomal dominant syndrome (OMIM DEE66), associating developmental and epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis. ...We report here a seven-year-old child with a history of infantile epileptic
PACS2 pathogenic variants are associated with an autosomal dominant syndrome (OMIM DEE66), associating developmental and epileptic en
148 results