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Morc2a p.S87L mutant mice develop peripheral and central neuropathies associated with neuronal DNA damage and apoptosis.
Lee GS, Kwak G, Bae JH, Han JP, Nam SH, Lee JH, Song S, Kim GD, Park TS, Choi YK, Choi BO, Yeom SC. Lee GS, et al. Dis Model Mech. 2021 Oct 1;14(10):dmm049123. doi: 10.1242/dmm.049123. Epub 2021 Oct 25. Dis Model Mech. 2021. PMID: 34695197 Free PMC article.
The etiology of MORC2 mutation-mediated neuropathy remains uncertain. Here, we established and analyzed Morc2a p.S87L mutant mice. Morc2a p.S87L mice displayed the clinical symptoms expected in human CMT2Z patients, such as axonal neuropathy and skeletal muscle weak …
The etiology of MORC2 mutation-mediated neuropathy remains uncertain. Here, we established and analyzed Morc2a p.S87L mutant mice. …
Morc2a variants cause hydroxyl radical-mediated neuropathy and are rescued by restoring GHKL ATPase.
Chung HY, Lee GS, Nam SH, Lee JH, Han JP, Song S, Kim GD, Jung C, Hyeon DY, Hwang D, Choi BO, Yeom SC. Chung HY, et al. Brain. 2024 Jan 16:awae017. doi: 10.1093/brain/awae017. Online ahead of print. Brain. 2024. PMID: 38227798
In the present study, we analysed the gene expression of Morc2a p.S87L mice and designated the primary causing factor. We investigated the pathological pathway using Morc2a p.S87L mouse embryonic fibroblasts and human fibroblasts harbouring MORC2 p.R252W. We subsequ …
In the present study, we analysed the gene expression of Morc2a p.S87L mice and designated the primary causing factor. We investigate …
The HUSH complex controls brain architecture and protocadherin fidelity.
Hagelkruys A, Horrer M, Taubenschmid-Stowers J, Kavirayani A, Novatchkova M, Orthofer M, Pai TP, Cikes D, Zhuk S, Balmaña M, Esk C, Koglgruber R, Moeseneder P, Lazovic J, Zopf LM, Cronin SJF, Elling U, Knoblich JA, Penninger JM. Hagelkruys A, et al. Sci Adv. 2022 Nov 4;8(44):eabo7247. doi: 10.1126/sciadv.abo7247. Epub 2022 Nov 4. Sci Adv. 2022. PMID: 36332029 Free PMC article.
Functional and mechanistic studies of the HUSH complex have hitherto been centered around SETDB1 while the in vivo functions of MPP8 and MORC2 remain elusive. Here, we show that genetic inactivation of Mphosph8 or Morc2a in the nervous system of mice leads to increased bra …
Functional and mechanistic studies of the HUSH complex have hitherto been centered around SETDB1 while the in vivo functions of MPP8 and MOR …
MORC2B is essential for meiotic progression and fertility.
Shi B, Xue J, Zhou J, Kasowitz SD, Zhang Y, Liang G, Guan Y, Shi Q, Liu M, Sha J, Huang X, Wang PJ. Shi B, et al. PLoS Genet. 2018 Jan 12;14(1):e1007175. doi: 10.1371/journal.pgen.1007175. eCollection 2018 Jan. PLoS Genet. 2018. PMID: 29329290 Free PMC article.
Morc2b arose specifically in the rodent lineage through retrotransposition of Morc2a during evolution. Inactivation of Morc2b leads to meiotic arrest and sterility in both sexes. ...Loss of MORC2B causes mis-regulated expression of meiosis-specific genes. Furthermore, we f …
Morc2b arose specifically in the rodent lineage through retrotransposition of Morc2a during evolution. Inactivation of Morc2b leads t …
TCFL5 deficiency impairs the pachytene to diplotene transition during spermatogenesis in the mouse.
Galán-Martínez J, Berenguer I, Del Carmen Maza M, Stamatakis K, Gironès N, Fresno M. Galán-Martínez J, et al. Sci Rep. 2022 Jun 29;12(1):10956. doi: 10.1038/s41598-022-15167-w. Sci Rep. 2022. PMID: 35768632 Free PMC article.
Furthermore, TCFL5 deficiency increased spermatogonia maintenance genes (Dalz, Sox2, and Dmrt1) but also increased meiosis genes (Syce1, Stag3, and Morc2a) suggesting that the synaptonemal complex forms well, but cannot separate and meiosis does not proceed. ...
Furthermore, TCFL5 deficiency increased spermatogonia maintenance genes (Dalz, Sox2, and Dmrt1) but also increased meiosis genes (Syce1, Sta …
The venous system of E14.5 mouse embryos-reference data and examples for diagnosing malformations in embryos with gene deletions.
Geyer SH, Maurer-Gesek B, Reissig LF, Rose J, Prin F, Wilson R, Galli A, Tudor C, White JK, Mohun TJ, Weninger WJ. Geyer SH, et al. J Anat. 2022 Jan;240(1):11-22. doi: 10.1111/joa.13536. Epub 2021 Aug 25. J Anat. 2022. PMID: 34435363 Free PMC article.
To explore this capacity, we analysed the venous phenotype of embryos from 7 knockout lines (Atp11a, Morc2a, 1700067K01Rik, B9d2, Oaz1, Celf4 and Coro1c). Careful comparisons enabled the diagnosis of not only simple malformations, such as dual inferior vena cava, but also …
To explore this capacity, we analysed the venous phenotype of embryos from 7 knockout lines (Atp11a, Morc2a, 1700067K01Rik, B9d2, Oaz …
A CRISPR knockout screen identifies SETDB1-target retroelement silencing factors in embryonic stem cells.
Fukuda K, Okuda A, Yusa K, Shinkai Y. Fukuda K, et al. Genome Res. 2018 Jun;28(6):846-858. doi: 10.1101/gr.227280.117. Epub 2018 May 4. Genome Res. 2018. PMID: 29728365 Free PMC article.
In particular, ATF7IP and the BAF complex components are linked with the repression of most of the SETDB1 targets. We characterized two factors, MORC2A and RESF1, of which RESF1 is a novel molecule in retroelement silencing. Although both factors are recruited to repress p …
In particular, ATF7IP and the BAF complex components are linked with the repression of most of the SETDB1 targets. We characterized two fact …
Common and distinct transcriptional signatures of mammalian embryonic lethality.
Collins JE, White RJ, Staudt N, Sealy IM, Packham I, Wali N, Tudor C, Mazzeo C, Green A, Siragher E, Ryder E, White JK, Papatheodoru I, Tang A, Füllgrabe A, Billis K, Geyer SH, Weninger WJ, Galli A, Hemberger M, Stemple DL, Robertson E, Smith JC, Mohun T, Adams DJ, Busch-Nentwich EM. Collins JE, et al. Nat Commun. 2019 Jun 26;10(1):2792. doi: 10.1038/s41467-019-10642-x. Nat Commun. 2019. PMID: 31243271 Free PMC article.
Analysis of transcription outside coding sequence identifies deregulation of repetitive elements in Morc2a mutants and a gene involved in gene-specific splicing. Collectively, this work provides a large scale resource to further our understanding of early embryonic develop …
Analysis of transcription outside coding sequence identifies deregulation of repetitive elements in Morc2a mutants and a gene involve …
Enhancers in the Peril lincRNA locus regulate distant but not local genes.
Groff AF, Barutcu AR, Lewandowski JP, Rinn JL. Groff AF, et al. Genome Biol. 2018 Dec 11;19(1):219. doi: 10.1186/s13059-018-1589-8. Genome Biol. 2018. PMID: 30537984 Free PMC article.
However, three lincRNA loci, Lincp21, LincEnc1, and Peril, and one mRNA locus, Morc2a, display significant enhancer activity within their gene bodies. ...
However, three lincRNA loci, Lincp21, LincEnc1, and Peril, and one mRNA locus, Morc2a, display significant enhancer activity within t …