Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2018 | 1 |
2019 | 2 |
2020 | 1 |
2021 | 1 |
2023 | 1 |
2024 | 0 |
Search Results
6 results
Results by year
Filters applied: . Clear all
Page 1
The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss.
Eur J Hum Genet. 2023 Apr;31(4):377-379. doi: 10.1038/s41431-023-01292-1. Epub 2023 Jan 30.
Eur J Hum Genet. 2023.
PMID: 36710272
Free PMC article.
No abstract available.
Variants of human CLDN9 cause mild to profound hearing loss.
Ramzan M, Philippe C, Belyantseva IA, Nakano Y, Fenollar-Ferrer C, Tona R, Yousaf R, Basheer R, Imtiaz A, Faridi R, Munir Z, Idrees H, Salman M, Nambot S, Vitobello A, Kartti S, Zarrik O, Witmer PD, Sobreria N, Ibrahimi A, Banfi B, Moutton S, Friedman TB, Naz S.
Ramzan M, et al.
Hum Mutat. 2021 Oct;42(10):1321-1335. doi: 10.1002/humu.24260. Epub 2021 Aug 1.
Hum Mutat. 2021.
PMID: 34265170
Free PMC article.
Item in Clipboard
Inhibition of a transcriptional repressor rescues hearing in a splicing factor-deficient mouse.
Nakano Y, Wiechert S, Fritzsch B, Bánfi B.
Nakano Y, et al.
Life Sci Alliance. 2020 Oct 21;3(12):e202000841. doi: 10.26508/lsa.202000841. Print 2020 Dec.
Life Sci Alliance. 2020.
PMID: 33087486
Free PMC article.
Item in Clipboard
Overlapping Activities of Two Neuronal Splicing Factors Switch the GABA Effect from Excitatory to Inhibitory by Regulating REST.
Nakano Y, Wiechert S, Bánfi B.
Nakano Y, et al.
Cell Rep. 2019 Apr 16;27(3):860-871.e8. doi: 10.1016/j.celrep.2019.03.072.
Cell Rep. 2019.
PMID: 30995482
Free PMC article.
Item in Clipboard
The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
Tona R, Chen W, Nakano Y, Reyes LD, Petralia RS, Wang YX, Starost MF, Wafa TT, Morell RJ, Cravedi KD, du Hoffmann J, Miyoshi T, Munasinghe JP, Fitzgerald TS, Chudasama Y, Omori K, Pierpaoli C, Banfi B, Dong L, Belyantseva IA, Friedman TB.
Tona R, et al.
Hum Mol Genet. 2019 May 1;28(9):1530-1547. doi: 10.1093/hmg/ddy445.
Hum Mol Genet. 2019.
PMID: 30602030
Free PMC article.
Item in Clipboard
Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness.
Nakano Y, Kelly MC, Rehman AU, Boger ET, Morell RJ, Kelley MW, Friedman TB, Bánfi B.
Nakano Y, et al.
Cell. 2018 Jul 26;174(3):536-548.e21. doi: 10.1016/j.cell.2018.06.004. Epub 2018 Jun 28.
Cell. 2018.
PMID: 29961578
Free PMC article.
Item in Clipboard
Cite
Cite