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660 results

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Page 1
RPS19 and RPL5, the most commonly mutated genes in Diamond Blackfan anemia, impact DNA double-strand break repair.
DeCleene NF, Asik E, Sanchez A, Williams CL, Kabotyanski EB, Zhao N, Chatterjee N, Miller KM, Wang YH, Bertuch AA. DeCleene NF, et al. bioRxiv [Preprint]. 2024 Oct 11:2024.10.10.617668. doi: 10.1101/2024.10.10.617668. bioRxiv. 2024. PMID: 39416207 Free PMC article. Preprint.
Additionally, RAD51 was reduced in RPS19- and RPL5-KD and RPS19- and RPL5-mutated DBA cells, whereas RPS19-deficient cells also had a reduction in PARP1 and BRCA2 proteins. ...RPL5's recruitment, but not RPS19's, also required p53, suggesting that R …
Additionally, RAD51 was reduced in RPS19- and RPL5-KD and RPS19- and RPL5-mutated DBA cells, whereas RPS19-deficient ce …
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF, Ramenghi U, Armiraglio M, Quarello P, Garelli E, Carando A, Avondo F, Pavesi E, Fribourg S, Gleizes PE, Loreni F, Dianzani I. Campagnoli MF, et al. Hum Mutat. 2008 Jul;29(7):911-20. doi: 10.1002/humu.20752. Hum Mutat. 2008. PMID: 18412286 Review.
Most authors agree that a defect in protein synthesis in a rapidly proliferating tissue, such as the erythroid bone marrow, may explain the defective erythropoiesis. A total of 77 RPS19 mutations have been described. Most are whole gene deletions, translocations, or trunca …
Most authors agree that a defect in protein synthesis in a rapidly proliferating tissue, such as the erythroid bone marrow, may explain the …
RPS19 and RPL5 Haploinsufficient Models Reveal Divergent Ribosomal Subunit Controls of Fetal Hematopoiesis.
Blanc L, Tang Y, Ling T, Mehmood R, Bertrand A, Papoin J, Khan M, Rao R, Xu J, Schulz V, Palis J, Steiner L, Barnes B, Zou Y, Marambaud P, Signer R, Roberts I, Iskander D, Zon L, Bhoopalan S, Weiss M, Lipton J, Gallagher P, Mohandas N, Taylor N, Durand S, Crispino J. Blanc L, et al. Res Sq [Preprint]. 2025 Sep 26:rs.3.rs-7563799. doi: 10.21203/rs.3.rs-7563799/v1. Res Sq. 2025. PMID: 41041537 Free PMC article. Preprint.
Using novel in vivo models, we uncover strikingly divergent functions for the small and large ribosomal subunit proteins RPS19 and RPL5 in fetal hematopoiesis. While RPL5 haploinsufficiency causes hematopoietic stem and progenitor cell (HSPC) accumulation and prenatal leth …
Using novel in vivo models, we uncover strikingly divergent functions for the small and large ribosomal subunit proteins RPS19 and RP …
The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review.
Morimoto K, Lin S, Sakamoto K. Morimoto K, et al. Mol Genet Metab. 2007 Apr;90(4):358-62. doi: 10.1016/j.ymgme.2006.11.004. Epub 2006 Dec 18. Mol Genet Metab. 2007. PMID: 17178250 Review.
The relatively new study of ribosomal proteins has allowed for greater understanding of protein synthesis; however the connection between ribosomal proteins' roles and that of disease pathophysiology has not yet been established. RPS19 is a ribosomal protein linked to Diam …
The relatively new study of ribosomal proteins has allowed for greater understanding of protein synthesis; however the connection between ri …
Integrating spatial and single-cell transcriptomics reveals tumor heterogeneity and intercellular networks in colorectal cancer.
Xiao J, Yu X, Meng F, Zhang Y, Zhou W, Ren Y, Li J, Sun Y, Sun H, Chen G, He K, Lu L. Xiao J, et al. Cell Death Dis. 2024 May 10;15(5):326. doi: 10.1038/s41419-024-06598-6. Cell Death Dis. 2024. PMID: 38729966 Free PMC article.
In particular, one pair of ligands and receptors (C5AR1 and RPS19) was inferred to play key roles in the crosstalk of stroma and tumor regions. For the tumor region, a typical feature of TMSB4X-high expression was identified, which could be a potential marker of CRC. ...
In particular, one pair of ligands and receptors (C5AR1 and RPS19) was inferred to play key roles in the crosstalk of stroma and tumo …
An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activity.
Bhoopalan SV, Yen JS, Mayuranathan T, Mayberry KD, Yao Y, Lillo Osuna MA, Jang Y, Liyanage JS, Blanc L, Ellis SR, Wlodarski MW, Weiss MJ. Bhoopalan SV, et al. JCI Insight. 2023 Jan 10;8(1):e161810. doi: 10.1172/jci.insight.161810. JCI Insight. 2023. PMID: 36413407 Free PMC article.
After transplantation into immunodeficient mice, bone marrow repopulation by RPS19+/- HSPCs was profoundly reduced, indicating hematopoietic stem cell (HSC) impairment. The erythroid and HSC defects resulting from RPS19 haploinsufficiency were partially corrected by …
After transplantation into immunodeficient mice, bone marrow repopulation by RPS19+/- HSPCs was profoundly reduced, indicating hemato …
Methylated HNRNPK acts on RPS19 to regulate ALOX15 synthesis in erythropoiesis.
Naarmann-de Vries IS, Senatore R, Moritz B, Marx G, Urlaub H, Niessing D, Ostareck DH, Ostareck-Lederer A. Naarmann-de Vries IS, et al. Nucleic Acids Res. 2021 Apr 6;49(6):3507-3523. doi: 10.1093/nar/gkab116. Nucleic Acids Res. 2021. PMID: 33660773 Free PMC article.
During induced erythroid maturation of K562 cells, decreasing arginine dimethylation of HNRNPK is linked to a reduced interaction with RPS19 in vitro and in vivo. Dimethylation of residues R256, R258 and R268 in HNRNPK affects its interaction with RPS19. In noninduc …
During induced erythroid maturation of K562 cells, decreasing arginine dimethylation of HNRNPK is linked to a reduced interaction with RP …
Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia.
Hiregange DG, Rivalta A, Yonath A, Zimmerman E, Bashan A, Yonath H. Hiregange DG, et al. FEBS Open Bio. 2022 Jul;12(7):1419-1434. doi: 10.1002/2211-5463.13444. Epub 2022 Jun 6. FEBS Open Bio. 2022. PMID: 35583751 Free PMC article.
Combined bioinformatical, structural, and predictive analyses of potential consequences of possibly expressed mutations in eS19, the protein product of the highly mutated RPS19, suggest that mutations in its exposed surface could alter its positioning during assembly and c …
Combined bioinformatical, structural, and predictive analyses of potential consequences of possibly expressed mutations in eS19, the protein …
SiRNA-mediated Silencing of the RPS19 Gene Induces Apoptosis and Inhibits Cell Cycle Progression in Chronic Myeloid Leukemia Cells.
Roodgar-Saffari J, Zarrinpour V, Forghanifard MM. Roodgar-Saffari J, et al. Int J Mol Cell Med. 2024;13(4):436-447. doi: 10.22088/IJMCM.BUMS.13.4.436. Int J Mol Cell Med. 2024. PMID: 39895916 Free PMC article.
This research delves into the therapeutic implications of utilizing small interfering RNA (siRNA) to target the ribosomal protein S19 (RPS19) gene in chronic myeloid leukemia (CML) using the K562 cell line model. ...Additionally, the knockdown of RP …
This research delves into the therapeutic implications of utilizing small interfering RNA (siRNA) to target the ribosomal protein …
Diamond-Blackfan anemia.
Da Costa L, Willig TN, Fixler J, Mohandas N, Tchernia G. Da Costa L, et al. Curr Opin Pediatr. 2001 Feb;13(1):10-5. doi: 10.1097/00008480-200102000-00002. Curr Opin Pediatr. 2001. PMID: 11176237 Review.
Recent molecular studies have identified mutations in the gene encoding the ribosomal protein RPS19 on chromosome 19 in 25% of patients with DBA. In another subset of patients, linkage analysis has identified another locus on chromosome 8p in association with DBA. There ar …
Recent molecular studies have identified mutations in the gene encoding the ribosomal protein RPS19 on chromosome 19 in 25% of patien …
660 results