| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Yun Tae Hwang, Solange Mabel Aliaga, Marta Arpone, David Francis, Xin Li, Belinda Chong, Howard Robert Slater, Carolyn Rogers, Lesley Bretherton, Matthew Hunter, Robert Heard, David Eugeny Godle. Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report. American journal of medical genetics. Part A. vol 170. issue 12. 2017-10-26. PMID:27696642. |
cgg repeat expansion >200 within fmr1, termed full mutation (fm), has been associated with promoter methylation, consequent silencing of gene expression and fragile x syndrome (fxs)-a common cause of intellectual disability and co-morbid autism. |
2017-10-26 |
2023-08-13 |
Not clear |
| Y Ky Cheng, C Sw Lin, Y Ky Kwok, Y M Chan, T K Lau, T Y Leung, K W Cho. Identification of fragile X pre-mutation carriers in the Chinese obstetric population using a robust FMR1 polymerase chain reaction assay: implications for screening and prenatal diagnosis. Hong Kong medical journal = Xianggang yi xue za zhi. vol 23. issue 2. 2017-10-03. PMID:28253484. |
this study aimed to determine the prevalence of fragile x syndrome pre-mutation and asymptomatic full-mutation carriers in a chinese pregnant population, and the distribution of cytosine-guanine-guanine (cgg) repeat numbers using a robust fragile x mental retardation 1 (fmr1) polymerase chain reaction assay. |
2017-10-03 |
2023-08-13 |
Not clear |
| Ramona Alfaro Arenas, Jordi Rosell Andreo, Dami Heine Suñe. Fragile X syndrome screening in pregnant women and women planning pregnancy shows a remarkably high FMR1 premutation prevalence in the Balearic Islands. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 171. issue 8. 2017-09-21. PMID:27333191. |
fragile x syndrome screening in pregnant women and women planning pregnancy shows a remarkably high fmr1 premutation prevalence in the balearic islands. |
2017-09-21 |
2023-08-13 |
Not clear |
| Nien-Pei Tsai, Julia R Wilkerson, Weirui Guo, Kimberly M Hube. FMRP-dependent Mdm2 dephosphorylation is required for MEF2-induced synapse elimination. Human molecular genetics. vol 26. issue 2. 2017-09-20. PMID:28025327. |
the myocyte enhancer factor 2 (mef2) transcription factors suppress an excitatory synapse number by promoting degradation of the synaptic scaffold protein, postsynaptic density protein 95 (psd-95), a process that is deficient in the mouse model of fragile x syndrome, fmr1 ko. |
2017-09-20 |
2023-08-13 |
mouse |
| Daman Kumari, Karen Usdi. Sustained expression of FMR1 mRNA from reactivated fragile X syndrome alleles after treatment with small molecules that prevent trimethylation of H3K27. Human molecular genetics. vol 25. issue 17. 2017-08-23. PMID:27378697. |
sustained expression of fmr1 mrna from reactivated fragile x syndrome alleles after treatment with small molecules that prevent trimethylation of h3k27. |
2017-08-23 |
2023-08-13 |
Not clear |
| Daman Kumari, Karen Usdi. Sustained expression of FMR1 mRNA from reactivated fragile X syndrome alleles after treatment with small molecules that prevent trimethylation of H3K27. Human molecular genetics. vol 25. issue 17. 2017-08-23. PMID:27378697. |
fmr1 gene silencing results in fragile x syndrome (fxs), the most common heritable cause of intellectual disability. |
2017-08-23 |
2023-08-13 |
Not clear |
| René Rovozzo, George Korza, Mei W Baker, Meng Li, Anita Bhattacharyya, Elisa Barbarese, John H Carso. CGG Repeats in the 5'UTR of FMR1 RNA Regulate Translation of Other RNAs Localized in the Same RNA Granules. PloS one. vol 11. issue 12. 2017-07-28. PMID:28005950. |
large expansions of cgg repeats (> 200 repeats) in fmr1, referred to as full mutations, are associated with fragile x syndrome (fxs). |
2017-07-28 |
2023-08-13 |
human |
| Lisa A Martin, Alison G Porter, Vincent A Pelligrini, Peter F Schnatz, Xuezhi Jiang, Nicole Kleinstreuer, Janet E Hall, Sarah Verbiest, Jill Olmstead, Ryan Fair, Alberto Falorni, Luca Persani, Aleksandar Rajkovic, Khanjan Mehta, Lawrence M Nelso. A design thinking approach to primary ovarian insufficiency. Panminerva medica. vol 59. issue 1. 2017-07-13. PMID:27827529. |
women who develop primary ovarian insufficiency related to a premutation in fmr1 are at risk of having a child with fragile x syndrome, the most common cause of inherited intellectual disability. |
2017-07-13 |
2023-08-13 |
Not clear |
| Sha Sha, Xue He, Dongya Yuan, Jianfang Zhang, Longli Kan. [Tri-primer-florescence PCR-Sanger sequencing method for screening of full and pre-mutations of FMR1 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 33. issue 6. 2017-07-10. PMID:27984619. |
to screen for cgg repeats in the fmr1 gene among patients with fragile x syndrome and carriers of pre-mutations. |
2017-07-10 |
2023-08-13 |
Not clear |
| Ping Lu, Xiaolong Chen, Yun Feng, Qiao Zeng, Cizhong Jiang, Xianmin Zhu, Guoping Fan, Zhigang Xu. Integrated transcriptome analysis of human iPS cells derived from a fragile X syndrome patient during neuronal differentiation. Science China. Life sciences. vol 59. issue 11. 2017-06-30. PMID:27730449. |
fragile x syndrome (fxs) patients carry the expansion of over 200 cgg repeats at the promoter of fragile x mental retardation 1 (fmr1), leading to decreased or absent expression of its encoded fragile x mental retardation protein (fmrp). |
2017-06-30 |
2023-08-13 |
human |
| T L Wis. Changes in insulin-like growth factor signaling alter phenotypes in Fragile X Mice. Genes, brain, and behavior. vol 16. issue 2. 2017-06-28. PMID:27643697. |
fragile x syndrome (fxs) is an inherited form of intellectual disability that is usually caused by expansion of a polymorphic cgg repeat in the 5' untranslated region of the x-linked fmr1 gene, which leads to hypermethylation and transcriptional silencing. |
2017-06-28 |
2023-08-13 |
mouse |
| Nina Xie, He Gong, Joshua A Suhl, Pankaj Chopra, Tao Wang, Stephen T Warre. Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome. PloS one. vol 11. issue 10. 2017-06-20. PMID:27768763. |
fragile x syndrome (fxs) is a common cause of intellectual disability that is most often due to a cgg-repeat expansion mutation in the fmr1 gene that triggers epigenetic gene silencing. |
2017-06-20 |
2023-08-13 |
human |
| Indhu-Shree Rajan-Babu, Mulias Lian, Anh H Tran, Truong T Dang, Huong T-M Le, Minh N Thanh, Caroline G Lee, Samuel S Chon. Defining the Performance Parameters of a Rapid Screening Tool for FMR1 CGG-Repeat Expansions Based on Direct Triplet-Primed PCR and Melt Curve Analysis. The Journal of molecular diagnostics : JMD. vol 18. issue 5. 2017-06-06. PMID:27375073. |
population-based screening for cgg-repeat expansions in the fragile x mental retardation 1 (fmr1) gene that cause fragile x syndrome can now be performed more cost-effectively and simply by combining direct triplet-primed pcr (dtp-pcr) with melting curve analysis (mca). |
2017-06-06 |
2023-08-13 |
Not clear |
| Kristjan Eerik Kaseniit, Mark R Theilmann, Alexander Robertson, Eric A Evans, Imran S Haqu. Group Testing Approach for Trinucleotide Repeat Expansion Disorder Screening. Clinical chemistry. vol 62. issue 10. 2017-06-01. PMID:27540028. |
fragile x syndrome (fxs, omim #300624) is an x-linked condition caused by trinucleotide repeat expansions in the 5' utr (untranslated region) of the fragile x mental retardation 1 (fmr1) gene. |
2017-06-01 |
2023-08-13 |
Not clear |
| Reed M O'Connor, Elizabeth F Stone, Charlotte R Wayne, Emily V Marcinkevicius, Matt Ulgherait, Rebecca Delventhal, Meghan M Pantalia, Vanessa M Hill, Clarice G Zhou, Sophie McAllister, Anna Chen, Jennifer S Ziegenfuss, Wesley B Grueber, Julie C Canman, Mimi M Shirasu-Hiz. A The Journal of cell biology. vol 216. issue 3. 2017-05-26. PMID:28223318. |
a fragile x syndrome, the most common known monogenic cause of autism, results from the loss of fmr1, a conserved, ubiquitously expressed rna-binding protein. |
2017-05-26 |
2023-08-13 |
Not clear |
| Nuno Maia, Joana R Loureiro, Bárbara Oliveira, Isabel Marques, Rosário Santos, Paula Jorge, Sandra Martin. Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events? Journal of human genetics. vol 62. issue 2. 2017-05-24. PMID:27784894. |
fragile x syndrome (fxs), the most common cause of inherited intellectual disability, is due to the expansion over 200 cggs and methylation of this polymorphic region, in the 5'-utr (untranslated region) of fmr1 (xq27.3). |
2017-05-24 |
2023-08-13 |
Not clear |
| B Zupan, A Sharma, A Frazier, S Klein, M Tot. Programming social behavior by the maternal fragile X protein. Genes, brain, and behavior. vol 15. issue 6. 2017-05-18. PMID:27198123. |
mutation/premutation in the x-linked fmr1 (encoding the translational regulator fmrp) in females, although primarily responsible for causing fragile x syndrome (fxs) in their children, may also elicit such maternal effects. |
2017-05-18 |
2023-08-13 |
mouse |
| Cornelia C E Lieb-Lundel. Three Faces of Fragile X. Physical therapy. vol 96. issue 11. 2017-05-03. PMID:27340198. |
fragile x syndrome (fxs) is the first of 3 syndromes identified as a health condition related to fragile x mental retardation (fmr1) gene dysfunction. |
2017-05-03 |
2023-08-13 |
Not clear |
| Lorena Santa María, Solange Aliaga, Víctor Faundes, Paulina Morales, Ángela Pugin, Bianca Curotto, Paula Soto, M Ignacia Peña, Isabel Salas, M Angélica Alliend. FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile. Genetics research. vol 98. 2017-03-16. PMID:27350105. |
fmr1 gene mutations in patients with fragile x syndrome and obligate carriers: 30 years of experience in chile. |
2017-03-16 |
2023-08-13 |
Not clear |
| P Jiraanont, R J Hagerman, G Neri, M Zollino, M Murdolo, F Tasson. Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome. European journal of medical genetics. vol 59. issue 9. 2017-02-02. PMID:27546052. |
germinal mosaicism for a deletion of the fmr1 gene leading to fragile x syndrome. |
2017-02-02 |
2023-08-13 |
Not clear |