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Page 1
Hereditary Spastic Paraplegia Overview.
Hedera P. Hedera P. 2000 Aug 15 [updated 2021 Feb 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Aug 15 [updated 2021 Feb 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301682 Free Books & Documents. Review.
New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12.
Tian W, Zheng H, Zhu Z, Zhang C, Luan X, Cao L. Tian W, et al. Ann Clin Transl Neurol. 2022 Aug;9(8):1108-1115. doi: 10.1002/acn3.51605. Epub 2022 Jun 9. Ann Clin Transl Neurol. 2022. PMID: 35684947 Free PMC article.
OBJECTIVE: Spastic paraplegia-12 (SPG12) is a subtype of hereditary spastic paraplegia caused by Reticulon-2 (RTN2) mutations. We described the clinical and genetic features of three SPG12 patients, functionally explored the potential pathogenic mechanism of RTN2 mu …
OBJECTIVE: Spastic paraplegia-12 (SPG12) is a subtype of hereditary spastic paraplegia caused by Reticulon-2 (RTN2) mutations. We des …
RTN2, a new member of circadian clock genes identified by database mining and bioinformatics prediction, is highly expressed in ovarian cancer.
Zheng X, Lv X, Chai J, Huang Y, Zhu L, Zhang X. Zheng X, et al. Mol Med Rep. 2022 Nov;26(5):350. doi: 10.3892/mmr.2022.12866. Epub 2022 Sep 30. Mol Med Rep. 2022. PMID: 36177918 Free PMC article.
The mRNA and protein expression levels of RTN2 in OV were then further analyzed by reverse transcription-quantitative PCR and immunohistochemistry, respectively. The results indicated that RTN2 mRNA and protein levels were increased in OV specimens in comparison wit …
The mRNA and protein expression levels of RTN2 in OV were then further analyzed by reverse transcription-quantitative PCR and immunoh …
In silico development and clinical validation of novel 8 gene signature based on lipid metabolism related genes in colon adenocarcinoma.
Jiang C, Liu Y, Wen S, Xu C, Gu L. Jiang C, et al. Pharmacol Res. 2021 Jul;169:105644. doi: 10.1016/j.phrs.2021.105644. Epub 2021 Apr 30. Pharmacol Res. 2021. PMID: 33940186
In addition, our model's predictive efficacy overall was higher than that of the other published models, and the 8 genes' expression analysis indicated that RTN2, HEYL, and STOX1 were all expressed highly significantly in COAD, while FAM69A, FBXL5, LGALS4, FYN and HMGN2 we …
In addition, our model's predictive efficacy overall was higher than that of the other published models, and the 8 genes' expression analysi …
O-GlcNAcylation enhances Reticulon 2 protein stability and its promotive effects on gastric cancer progression.
Wang G, Xu Z, Sun J, Liu B, Ruan Y, Gu J, Song S. Wang G, et al. Cell Signal. 2023 Aug;108:110718. doi: 10.1016/j.cellsig.2023.110718. Epub 2023 May 15. Cell Signal. 2023. PMID: 37196774
We found that RTN2 interacted with O-GlcNAc transferase (OGT) and was modified by O-GlcNAc. ...Altogether, these findings suggest that O-GlcNAcylation on RTN2 was pivotal for its oncogenic functions in gastric cancer. Targeting RTN2 O-GlcNAcylation might prov …
We found that RTN2 interacted with O-GlcNAc transferase (OGT) and was modified by O-GlcNAc. ...Altogether, these findings suggest tha …
Reticulon 2 promotes gastric cancer metastasis via activating endoplasmic reticulum Ca2+ efflux-mediated ERK signalling.
Song S, Liu B, Zeng X, Wu Y, Chen H, Wu H, Gu J, Gao X, Ruan Y, Wang H. Song S, et al. Cell Death Dis. 2022 Apr 15;13(4):349. doi: 10.1038/s41419-022-04757-1. Cell Death Dis. 2022. PMID: 35428758 Free PMC article.
In vivo studies were also performed to detect the effect of RTN2 on tumour metastasis. We found that RTN2 expression was notably upregulated in tumour tissues compared to pericarcinomatous tissues. ...And the predictive accuracy was also improved when incorporated …
In vivo studies were also performed to detect the effect of RTN2 on tumour metastasis. We found that RTN2 expression was notab …
cDNA cloning, genomic organization, and expression of the human RTN2 gene, a member of a gene family encoding reticulons.
Roebroek AJ, Contreras B, Pauli IG, Van de Ven WJ. Roebroek AJ, et al. Genomics. 1998 Jul 1;51(1):98-106. doi: 10.1006/geno.1997.5175. Genomics. 1998. PMID: 9693037
In a region of about 12 kb in total, 11 RTN2 exons could be identified. Like the RTN1 gene, the RTN2 gene is transcribed into different mRNA variants. ...Transcription of the 1.3-kb transcript starts presumably from an internal promoter within exon 5. The three mRNA …
In a region of about 12 kb in total, 11 RTN2 exons could be identified. Like the RTN1 gene, the RTN2 gene is transcribed into …
Reticulon proteins modulate autophagy of the endoplasmic reticulum in maize endosperm.
Zhang X, Ding X, Marshall RS, Paez-Valencia J, Lacey P, Vierstra RD, Otegui MS. Zhang X, et al. Elife. 2020 Feb 3;9:e51918. doi: 10.7554/eLife.51918. Elife. 2020. PMID: 32011236 Free PMC article.
Maize Rtn1 and Rtn2 are expressed in the endosperm, localize to the ER, and re-model ER architecture in a dose-dependent manner. ...Binding between Rtn2 and Atg8 is elevated upon ER stress. Maize rtn2 mutants display increased autophagy and up-regulation of a …
Maize Rtn1 and Rtn2 are expressed in the endosperm, localize to the ER, and re-model ER architecture in a dose-dependent manner. ...B …
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, Houlden H. Maroofian R, et al. Brain. 2024 Mar 25:awae091. doi: 10.1093/brain/awae091. Online ahead of print. Brain. 2024. PMID: 38527963
Heterozygous RTN2 variants have been previously identified in a limited cohort of families affected by autosomal dominant spastic paraplegia (SPG12-OMIM:604805) with a variable age of onset. ...This phenotype shares similarities with SIGMAR1-related dHMN, and Silver-like s …
Heterozygous RTN2 variants have been previously identified in a limited cohort of families affected by autosomal dominant spastic par …
42 results