The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss.
作者信息
Nakano Yoko, Bánfi Botond
机构信息
Department of Anatomy and Cell Biology, Carver College of Medicine, University of Iowa, Iowa City, IA, 52242, USA.
Inflammation Program, Carver College of Medicine, University of Iowa, Iowa City, IA, 52242, USA.
出版信息
Eur J Hum Genet. 2023 Apr;31(4):377-379. doi: 10.1038/s41431-023-01292-1. Epub 2023 Jan 30.
Abstract
摘要
相似文献
1
The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss.琼斯综合征病因终得定论：REST基因的突变导致牙龈纤维瘤病和听力丧失。
Eur J Hum Genet. 2023 Apr;31(4):377-379. doi: 10.1038/s41431-023-01292-1. Epub 2023 Jan 30.
2
Pathogenic REST variant causing Jones syndrome and a review of the literature.致琼斯综合征的致病性 REST 变异体及文献复习
Eur J Hum Genet. 2023 Apr;31(4):469-473. doi: 10.1038/s41431-022-01258-9. Epub 2022 Dec 13.
3
4
Hereditary gingival fibromatosis associated with hearing loss and supernumerary teeth--a new syndrome.遗传性牙龈纤维瘤病伴听力丧失和多生牙——一种新综合征。
J Periodontol. 1995 Jan;66(1):75-9. doi: 10.1902/jop.1995.66.1.75.
5
Wide clinical spectrum in Zimmermann-Laband syndrome.齐默尔曼-拉班德综合征的临床谱广泛。
Genet Couns. 2011;22(1):1-10.
6
Familial gingival fibromatosis associated with progressive deafness in five generations of a family.一个家族五代人中出现的与进行性耳聋相关的家族性牙龈纤维瘤病。
Birth Defects Orig Artic Ser. 1977;13(3B):195-201.
7
Gingival fibromatosis with multiple unusual findings: report of a rare case.牙龈纤维瘤病伴多处不典型表现：罕见病例报告。
Int J Oral Sci. 2012 Dec;4(4):221-5. doi: 10.1038/ijos.2012.53. Epub 2012 Sep 7.
8
Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing.全外显子测序发现 PTPN14 基因突变与特殊面容相关：伴牙龈纤维瘤病的新发现
Clin Dysmorphol. 2021 Apr 1;30(2):93-99. doi: 10.1097/MCD.0000000000000363.
9
Gingival fibromatosis: clinical, molecular and therapeutic issues.牙龈纤维瘤病：临床、分子及治疗问题
Orphanet J Rare Dis. 2016 Jan 27;11:9. doi: 10.1186/s13023-016-0395-1.
10
Criteria for diagnosis of Sjogren-Jones syndromes.舍格伦-琼斯综合征的诊断标准。
Ocul Surf. 2011 Apr;9(2):61-9. doi: 10.1016/s1542-0124(11)70013-1.
本文引用的文献
1
Pathogenic REST variant causing Jones syndrome and a review of the literature.致琼斯综合征的致病性 REST 变异体及文献复习
Eur J Hum Genet. 2023 Apr;31(4):469-473. doi: 10.1038/s41431-022-01258-9. Epub 2022 Dec 13.
2
Downregulation of REST in the cochlea contributes to age-related hearing loss via the p53 apoptosis pathway.耳蜗中 REST 的下调通过 p53 凋亡途径导致与年龄相关的听力损失。
Cell Death Dis. 2022 Apr 13;13(4):343. doi: 10.1038/s41419-022-04774-0.
3
A Monoallelic Variant in Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family.一个位于 的单等位基因变异与一个南非家族的非综合征常染色体显性遗传性听力损失相关。
Genes (Basel). 2021 Nov 6;12(11):1765. doi: 10.3390/genes12111765.
4
Novel Truncation Mutations Causing Hereditary Gingival Fibromatosis.新型截断突变导致遗传性牙龈纤维瘤病。
J Dent Res. 2021 Jul;100(8):868-874. doi: 10.1177/0022034521996620. Epub 2021 Mar 14.
5
Overlapping Activities of Two Neuronal Splicing Factors Switch the GABA Effect from Excitatory to Inhibitory by Regulating REST.两种神经元剪接因子的重叠活性通过调节 REST 将 GABA 的作用从兴奋性转变为抑制性。
Cell Rep. 2019 Apr 16;27(3):860-871.e8. doi: 10.1016/j.celrep.2019.03.072.
6
Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness.选择性剪接调控缺陷导致耳聋。
Cell. 2018 Jul 26;174(3):536-548.e21. doi: 10.1016/j.cell.2018.06.004. Epub 2018 Jun 28.
7
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.REST基因最后外显子截短突变导致遗传性牙龈纤维瘤病。
Am J Hum Genet. 2017 Jul 6;101(1):149-156. doi: 10.1016/j.ajhg.2017.06.006.
8
Mutations in the transcriptional repressor REST predispose to Wilms tumor.转录抑制剂 REST 的突变可导致肾母细胞瘤。
Nat Genet. 2015 Dec;47(12):1471-4. doi: 10.1038/ng.3440. Epub 2015 Nov 9.
9
Functional significance of repressor element 1 silencing transcription factor (REST) target genes in pancreatic beta cells.胰腺β细胞中阻遏元件1沉默转录因子（REST）靶基因的功能意义
Diabetologia. 2008 Aug;51(8):1429-39. doi: 10.1007/s00125-008-0984-1. Epub 2008 Apr 3.
10
The many faces of REST oversee epigenetic programming of neuronal genes.REST的多种形式负责神经元基因的表观遗传编程。
Curr Opin Neurobiol. 2005 Oct;15(5):500-6. doi: 10.1016/j.conb.2005.08.015.
Zotero 插件