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Page 1
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study; Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group; Nava C, Rivière JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C. Olson HE, et al. Am J Hum Genet. 2018 May 3;102(5):995-1007. doi: 10.1016/j.ajhg.2018.03.005. Epub 2018 Apr 12. Am J Hum Genet. 2018. PMID: 29656858 Free PMC article.
Cerebellar abnormalities may be similar but PACS2 individuals exhibit a pattern of clear dysgenesis ranging from mild to severe. Functional studies demonstrated that the PACS2 recurrent variant reduces the ability of the predicted autoregulatory domain to modulate t …
Cerebellar abnormalities may be similar but PACS2 individuals exhibit a pattern of clear dysgenesis ranging from mild to severe. Func …
PACS-2 functions in colorectal cancer.
Kveiborg M, Thomas G. Kveiborg M, et al. Aging (Albany NY). 2018 Jun 22;10(6):1190-1191. doi: 10.18632/aging.101489. Aging (Albany NY). 2018. PMID: 29936496 Free PMC article. No abstract available.
Icariin inhibits the formation of mitochondria-associated membranes (MAMs) and improves erectile function in rats treated with prostate radiation.
Deng CJ, Li X, Zeng Y, Jiang J, Jiang R. Deng CJ, et al. Andrology. 2022 Sep;10(6):1208-1216. doi: 10.1111/andr.13218. Epub 2022 Jul 11. Andrology. 2022. PMID: 35765205 Free article.
BACKGROUND: Erectile function is usually impaired after radiation therapy in prostate cancer patients. eNOS is a key enzyme in the process of erection. ...Icariin might increase p-eNOS/eNOS and improve erectile function in rats after prostate radiotherapy by inhibiting the …
BACKGROUND: Erectile function is usually impaired after radiation therapy in prostate cancer patients. eNOS is a key enzyme in the pr …
Down-regulation of a pro-apoptotic pathway regulated by PCAF/ADA3 in early stage gastric cancer.
Brasacchio D, Busuttil RA, Noori T, Johnstone RW, Boussioutas A, Trapani JA. Brasacchio D, et al. Cell Death Dis. 2018 May 1;9(5):442. doi: 10.1038/s41419-018-0470-8. Cell Death Dis. 2018. PMID: 29670108 Free PMC article.
The loss of p300/CBP-associated protein (PCAF) expression is associated with poor clinical outcome in gastric cancer, and a potential bio-marker for invasive and aggressive tumors. However, the mechanism linking loss of PCAF to the onset of gastric cancer has not be …
The loss of p300/CBP-associated protein (PCAF) expression is associated with poor clinical outcome in gastric cancer, and a potential …
Oxyphyllanene B overcomes temozolomide resistance in glioblastoma: Structure-activity relationship and mitochondria-associated ER membrane dysfunction.
Cui P, Chen F, Ma G, Liu W, Chen L, Wang S, Li W, Li Z, Huang G. Cui P, et al. Phytomedicine. 2022 Jan;94:153816. doi: 10.1016/j.phymed.2021.153816. Epub 2021 Oct 19. Phytomedicine. 2022. PMID: 34752969
Mechanistic studies demonstrated that OLB induced abnormal changes in ER and mitochondria-associated membrane (MAM) networks, which triggered ER stress, mitochondrial dysfunction, and apoptosis. Furthermore, our findings suggested that OLB-triggered PACS2 activation might …
Mechanistic studies demonstrated that OLB induced abnormal changes in ER and mitochondria-associated membrane (MAM) networks, which triggere …
Insulin PACS a Punch in SIRT1 Activity.
Jung SM, Guertin DA. Jung SM, et al. Mol Cell. 2018 Dec 20;72(6):917-919. doi: 10.1016/j.molcel.2018.12.004. Mol Cell. 2018. PMID: 30576653 Free article.
At the crossroads of homoeostasis and disease: roles of the PACS proteins in membrane traffic and apoptosis.
Youker RT, Shinde U, Day R, Thomas G. Youker RT, et al. Biochem J. 2009 Jun 12;421(1):1-15. doi: 10.1042/BJ20081016. Biochem J. 2009. PMID: 19505291 Free PMC article. Review.
We also summarize our current understanding of how PACS genes are dysregulated in cancer and how viral pathogens ranging from HIV-1 to herpesviruses have evolved to usurp the PACS sorting machinery to promote virus assembly, viral spread and immunoevasion....
We also summarize our current understanding of how PACS genes are dysregulated in cancer and how viral pathogens ranging from HIV-1 t …
Exploring prognostic markers for patients with acute myeloid leukemia based on cuproptosis related genes.
Li X, Xu L. Li X, et al. Transl Cancer Res. 2023 Aug 31;12(8):2008-2022. doi: 10.21037/tcr-23-85. Epub 2023 Aug 28. Transl Cancer Res. 2023. PMID: 37701119 Free PMC article.
In addition, PACS2 and NDUFV1 were significantly positively correlated with activated B cells, CD56dim natural killer (NK) cells, and negatively correlated with effector memory CD4 T cells and activated CD4 T cells. PACS2 gene was significantly enriched to inositol …
In addition, PACS2 and NDUFV1 were significantly positively correlated with activated B cells, CD56dim natural killer (NK) cells, and …
20 results