Molecular analysis of alleles for fragile X syndrome diagnosis and patient stratification.
作者信息
Kumari Daman, Usdin Karen
机构信息
Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD, USA.
出版信息
Expert Rev Mol Diagn. 2020 Apr;20(4):363-365. doi: 10.1080/14737159.2020.1729744. Epub 2020 Feb 18.
Abstract
摘要
相似文献
1
Molecular analysis of alleles for fragile X syndrome diagnosis and patient stratification.用于脆性X综合征诊断和患者分层的等位基因的分子分析。
Expert Rev Mol Diagn. 2020 Apr;20(4):363-365. doi: 10.1080/14737159.2020.1729744. Epub 2020 Feb 18.
2
Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome.脆性 X 综合征患者诱导多能干细胞模型中 FMR1 基因的表观遗传学特征及神经发育异常。
PLoS One. 2011;6(10):e26203. doi: 10.1371/journal.pone.0026203. Epub 2011 Oct 12.
3
CGG-repeat dynamics and gene silencing in fragile X syndrome stem cells and stem cell-derived neurons.脆性X综合征干细胞及干细胞衍生神经元中的CGG重复序列动态变化与基因沉默
Mol Autism. 2016 Oct 6;7:42. doi: 10.1186/s13229-016-0105-9. eCollection 2016.
4
FMR1 CGG repeat lengths mediate different regulation of reporter gene expression in comparative transient and locus specific integration assays.FMR1 CGG 重复序列长度在比较瞬时和位点特异性整合测定中调节报告基因表达的方式不同。
Gene. 2011 Oct 15;486(1-2):15-22. doi: 10.1016/j.gene.2011.06.034. Epub 2011 Jul 13.
5
Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in and Associated Phenotypes.脆性 X 综合征中三核苷酸重复扩展之外： 和相关表型中的罕见编码和非编码变异。
Genes (Basel). 2021 Oct 22;12(11):1669. doi: 10.3390/genes12111669.
6
Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model.在一种新的脆性X前突变小鼠模型中，区域FMRP缺陷以及大量重复序列扩展至完全突变范围。
Gene. 2007 Jun 15;395(1-2):125-34. doi: 10.1016/j.gene.2007.02.026. Epub 2007 Mar 16.
7
Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program.脆性 X 综合征全突变在认知正常男性中被发现，该男性是澳大利亚生殖携带者筛查计划的一部分。
Am J Med Genet A. 2021 May;185(5):1498-1503. doi: 10.1002/ajmg.a.62106. Epub 2021 Feb 5.
8
Cerebral protein synthesis in a knockin mouse model of the fragile X premutation.脆性 X 前突变 knockin 小鼠模型中的大脑蛋白合成。
ASN Neuro. 2014 Sep 23;6(5). doi: 10.1177/1759091414551957. Print 2014.
9
Unstable mutations in the FMR1 gene and the phenotypes.FMR1 基因突变与表型。
Adv Exp Med Biol. 2012;769:78-114. doi: 10.1007/978-1-4614-5434-2_6.
10
CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.小鼠脆性X蛋白（FMRP）在中枢神经系统中的表达与CGG重复序列长度的关系。
Hum Mol Genet. 2014 Jun 15;23(12):3228-38. doi: 10.1093/hmg/ddu032. Epub 2014 Jan 23.
引用本文的文献
1
Understanding pathophysiology in fragile X syndrome: a comprehensive review.了解脆性 X 综合征的病理生理学：全面综述。
Neurogenetics. 2024 Nov 25;26(1):6. doi: 10.1007/s10048-024-00794-4.
2
Attitudes of medical professionals toward fragile X carrier screening and genetic counseling in China.中国医学专业人员对脆性X携带者筛查和遗传咨询的态度。
J Community Genet. 2024 Apr;15(2):177-185. doi: 10.1007/s12687-024-00696-w. Epub 2024 Jan 26.
3
Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome.综述：脆性 X 综合征的分子诊断更新。
Int J Mol Sci. 2023 May 24;24(11):9206. doi: 10.3390/ijms24119206.
4
Autism Spectrum Disorder: Neurodevelopmental Risk Factors, Biological Mechanism, and Precision Therapy.自闭症谱系障碍：神经发育风险因素、生物学机制与精准治疗
Int J Mol Sci. 2023 Jan 17;24(3):1819. doi: 10.3390/ijms24031819.
5
gene CGG repeat distribution among the three individual cohorts with intellectual disability, autism, and primary ovarian insufficiency from Tamil Nadu, Southern India.印度南部泰米尔纳德邦智力残疾、自闭症和原发性卵巢功能不全的三个个体队列中的基因CGG重复分布。
Adv Genet (Hoboken). 2021 May 28;2(2):e10048. doi: 10.1002/ggn2.10048. eCollection 2021 Jun.
6
Diagnostic value of molecular approach in screening for fragile X premutation cases.分子方法在脆性 X 前突变病例筛查中的诊断价值。
Ir J Med Sci. 2023 Oct;192(5):2265-2272. doi: 10.1007/s11845-022-03166-9. Epub 2022 Nov 21.
7
The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.脆性 X 综合征男性患者镶嵌类型与认知和行为功能的相关性。
Am J Med Genet A. 2022 Mar;188(3):858-866. doi: 10.1002/ajmg.a.62594. Epub 2021 Dec 8.
本文引用的文献
1
Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions.在 CGG 重复扩展的整个范围内，智商与 FMR1 蛋白（FMRP）之间的关联。
PLoS One. 2019 Dec 31;14(12):e0226811. doi: 10.1371/journal.pone.0226811. eCollection 2019.
2
Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing.在美国一个接受脆性 X 测试的患者队列中，尽管没有检测到完整突变，但存在异常甲基化的 FMR1。
Sci Rep. 2019 Oct 25;9(1):15315. doi: 10.1038/s41598-019-51618-7.
3
Data-driven phenotype discovery of premutation carriers in a population-based sample.基于人群样本的动态表型发现 前突变携带者。
Sci Adv. 2019 Aug 21;5(8):eaaw7195. doi: 10.1126/sciadv.aaw7195. eCollection 2019 Aug.
4
Fragile X syndrome in a male with methylated premutation alleles and no detectable methylated full mutation alleles.脆性 X 综合征患者的甲基化前突变等位基因和未检测到甲基化完全突变等位基因。
Am J Med Genet A. 2019 Oct;179(10):2132-2137. doi: 10.1002/ajmg.a.61286. Epub 2019 Jul 29.
5
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.脆性 X 综合征男性中全突变等位基因不完全沉默与自闭症特征有关。
Mol Autism. 2019 May 3;10:21. doi: 10.1186/s13229-019-0271-7. eCollection 2019.
6
Closing the Gender Gap in Fragile X Syndrome: Review on Females with FXS and Preliminary Research Findings.缩小脆性X综合征的性别差异：关于脆性X综合征女性患者的综述及初步研究结果
Brain Sci. 2019 Jan 12;9(1):11. doi: 10.3390/brainsci9010011.
7
Early Identification of Fragile X Syndrome through Expanded Newborn Screening.通过扩大新生儿筛查早期识别脆性X综合征。
Brain Sci. 2019 Jan 3;9(1):4. doi: 10.3390/brainsci9010004.
8
Fragile X-Associated Neuropsychiatric Disorders (FXAND).脆性X染色体相关神经精神障碍（FXAND）
Front Psychiatry. 2018 Nov 13;9:564. doi: 10.3389/fpsyt.2018.00564. eCollection 2018.
9
The Fragile X Protein and Genome Function.脆性 X 蛋白与基因组功能
Mol Neurobiol. 2019 Jan;56(1):711-721. doi: 10.1007/s12035-018-1122-9. Epub 2018 May 23.
10
Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome.脆性X震颤共济失调综合征中的重复相关非AUG（RAN）翻译及其他分子机制。
Brain Res. 2018 Aug 15;1693(Pt A):43-54. doi: 10.1016/j.brainres.2018.02.006. Epub 2018 Feb 14.
Zotero 插件