| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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. |
aberrant cgg trinucleotide amplification within the fmr1 gene, which spans approximately 38 kb of genomic dna is almost always what leads to fragile x syndrome (fxs). |
2017-02-02 |
2023-08-13 |
Not clear |
| Thang T Pham, Jun Yin, John S Eid, Evan Adams, Regina Lam, Stephen W Turner, Erick W Loomis, Jun Yi Wang, Paul J Hagerman, Jeremiah W Hane. Single-locus enrichment without amplification for sequencing and direct detection of epigenetic modifications. Molecular genetics and genomics : MGG. vol 291. issue 3. 2017-01-26. PMID:26825750. |
the approach is demonstrated on the cgg-repeat region of the fmr1 gene, for which large repeat expansions, hitherto refractory to sequencing, are known to cause fragile x syndrome. |
2017-01-26 |
2023-08-13 |
Not clear |
| Akin Tekca. In Silico Analysis of FMR1 Gene Missense SNPs. Cell biochemistry and biophysics. vol 74. issue 2. 2017-01-26. PMID:26880065. |
the fmr1 gene, a member of the fragile x-related gene family, is responsible for fragile x syndrome (fxs). |
2017-01-26 |
2023-08-13 |
human |
| Brandon S Martin, Gabriel Martinez-Botella, Carlos M Loya, Francesco G Salituro, Albert J Robichaud, Molly M Huntsman, Mike A Ackley, James J Doherty, Joshua G Corbi. Rescue of deficient amygdala tonic γ-aminobutyric acidergic currents in the Fmr-/y mouse model of fragile X syndrome by a novel γ-aminobutyric acid type A receptor-positive allosteric modulator. Journal of neuroscience research. vol 94. issue 6. 2017-01-16. PMID:26308557. |
our previous studies revealed tonic gabaergic deficits in principal excitatory neurons in the basolateral amygdala (bla) in the fmr1(-/y) knockout (ko) mouse model fragile x syndrome. |
2017-01-16 |
2023-08-13 |
mouse |
| Henry G S Martin, Olivier Lassalle, Jonathan T Brown, Olivier J Manzon. Age-Dependent Long-Term Potentiation Deficits in the Prefrontal Cortex of the Fmr1 Knockout Mouse Model of Fragile X Syndrome. Cerebral cortex (New York, N.Y. : 1991). vol 26. issue 5. 2016-12-30. PMID:25750254. |
age-dependent long-term potentiation deficits in the prefrontal cortex of the fmr1 knockout mouse model of fragile x syndrome. |
2016-12-30 |
2023-08-13 |
mouse |
| Tao Yang, Huan Zhao, Changbo Lu, Xiaoyu Li, Yingli Xie, Hao Fu, Hui X. Synaptic Plasticity, a Prominent Contributor to the Anxiety in Fragile X Syndrome. Neural plasticity. vol 2016. 2016-12-30. PMID:27239350. |
fragile x syndrome (fxs) is an inheritable neuropsychological disease caused by expansion of the cgg trinucleotide repeat affecting the fmr1 gene on x chromosome, resulting in silence of the fmr1 gene and failed expression of fmrp. |
2016-12-30 |
2023-08-13 |
Not clear |
| Martina Goracci, Stella Lanni, Giorgia Mancano, Federica Palumbo, Pietro Chiurazzi, Giovanni Neri, Elisabetta Tabolacc. Defining the role of the CGGBP1 protein in FMR1 gene expression. European journal of human genetics : EJHG. vol 24. issue 5. 2016-12-26. PMID:26306647. |
fragile x syndrome is the most common heritable form of intellectual disability and is caused by the expansion over 200 repeats and subsequent methylation of the cgg triplets at the 5' utr of the fmr1 gene, leading to its silencing. |
2016-12-26 |
2023-08-13 |
Not clear |
| Jesús González-Pérez, Silvia Izquierdo-Álvarez, Cristina Fuertes-Rodrigo, Lorena Monge-Galindo, José Luis Peña-Segura, Francisco Javier López-Pisó. [Triplet expansion cytosine-guanine-guanine: Three cases of OMIM syndrome in the same family]. Medicina clinica. vol 146. issue 7. 2016-12-21. PMID:26776484. |
the dynamic increase in the number of triplet repeats of cytosine-guanine-guanine (cgg) in the fmr1 gene mutation is responsible for three omim syndromes with a distinct clinical phenotype: fragile x syndrome (fxs) and two pathologies in adult carriers of the premutation (55-200 cgg repeats): primary ovarian insufficiency (fxpoi) and tremor-ataxia syndrome (fxtas) associated with fxs. |
2016-12-21 |
2023-08-13 |
Not clear |
| Wilmar Saldarriaga, Pamela Lein, Laura Yuriko González Teshima, Carolina Isaza, Lina Rosa, Andrew Polyak, Randi Hagerman, Santhosh Girirajan, Marisol Silva, Flora Tasson. Phenobarbital use and neurological problems in FMR1 premutation carriers. Neurotoxicology. vol 53. 2016-12-19. PMID:26802682. |
fragile x syndrome (fxs) is a neurodevelopmental disorder caused by a cgg expansion in the fmr1 gene located at xq27.3. |
2016-12-19 |
2023-08-13 |
Not clear |
| Thaís Fernandez Gonçalves, Jussara Mendonça dos Santos, Andressa Pereira Gonçalves, Flora Tassone, Guadalupe Mendoza-Morales, Márcia Gonçalves Ribeiro, Evelyn Kahn, Raquel Boy, Márcia Mattos Gonçalves Pimentel, Cíntia Barros Santos-Rebouça. Finding FMR1 mosaicism in Fragile X syndrome. Expert review of molecular diagnostics. vol 16. issue 4. 2016-12-13. PMID:26716517. |
finding fmr1 mosaicism in fragile x syndrome. |
2016-12-13 |
2023-08-13 |
Not clear |
| Thaís Fernandez Gonçalves, Jussara Mendonça dos Santos, Andressa Pereira Gonçalves, Flora Tassone, Guadalupe Mendoza-Morales, Márcia Gonçalves Ribeiro, Evelyn Kahn, Raquel Boy, Márcia Mattos Gonçalves Pimentel, Cíntia Barros Santos-Rebouça. Finding FMR1 mosaicism in Fragile X syndrome. Expert review of molecular diagnostics. vol 16. issue 4. 2016-12-13. PMID:26716517. |
almost all patients with fragile x syndrome (fxs) exhibit a cgg repeat expansion (full mutation) in the fragile mental retardation 1 gene (fmr1). |
2016-12-13 |
2023-08-13 |
Not clear |
| Elizabeth Berry-Kravis, Vincent Des Portes, Randi Hagerman, Sébastien Jacquemont, Perrine Charles, Jeannie Visootsak, Marc Brinkman, Karin Rerat, Barbara Koumaras, Liansheng Zhu, Gottfried Maria Barth, Thomas Jaecklin, George Apostol, Florian von Raiso. Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials. Science translational medicine. vol 8. issue 321. 2016-12-13. PMID:26764156. |
fragile x syndrome (fxs), the most common cause of inherited intellectual disability and autistic spectrum disorder, is typically caused by transcriptional silencing of the x-linked fmr1 gene. |
2016-12-13 |
2023-08-13 |
human |
| Jessica Klusek, Sara E McGrath, Leonard Abbeduto, Jane E Robert. Pragmatic Language Features of Mothers With the FMR1 Premutation Are Associated With the Language Outcomes of Adolescents and Young Adults With Fragile X Syndrome. Journal of speech, language, and hearing research : JSLHR. vol 59. issue 1. 2016-12-13. PMID:26895548. |
pragmatic language features of mothers with the fmr1 premutation are associated with the language outcomes of adolescents and young adults with fragile x syndrome. |
2016-12-13 |
2023-08-13 |
Not clear |
| Jessica Klusek, Sara E McGrath, Leonard Abbeduto, Jane E Robert. Pragmatic Language Features of Mothers With the FMR1 Premutation Are Associated With the Language Outcomes of Adolescents and Young Adults With Fragile X Syndrome. Journal of speech, language, and hearing research : JSLHR. vol 59. issue 1. 2016-12-13. PMID:26895548. |
pragmatic language difficulties have been documented as part of the fmr1 premutation phenotype, yet the interplay between these features in mothers and the language outcomes of their children with fragile x syndrome is unknown. |
2016-12-13 |
2023-08-13 |
Not clear |
| Prescott T Leach, Jane Hayes, Michael Pride, Jill L Silverman, Jacqueline N Crawle. Normal Performance of Fmr1 Mice on a Touchscreen Delayed Nonmatching to Position Working Memory Task. eNeuro. vol 3. issue 1. 2016-10-27. PMID:27022628. |
these results indicate that, while the fmr1 mouse model effectively recapitulates many molecular and cellular aspects of fragile x syndrome, the cognitive profile of fmr1 mice generally does not recapitulate the primary cognitive deficits in the human syndrome, even when diverse and challenging tasks are imposed. |
2016-10-27 |
2023-08-13 |
mouse |
| b' Ma\\xc5\\x82gorzata Z Lisik, Ewa Gutmajster, Aleksander L Siero\\xc5\\x8. Low Levels of HDL in Fragile X Syndrome Patients. Lipids. vol 51. issue 2. 2016-10-24. PMID:26712713.' |
the mutation responsible for fxs is a large expansion of the cgg repeats in the promoter region of the fmr1 gene resulting in the transcriptional silencing of the gene in the pathophysiology of fragile x syndrome was hypothesized. |
2016-10-24 |
2023-08-13 |
Not clear |
| b' Ma\\xc5\\x82gorzata Z Lisik, Ewa Gutmajster, Aleksander L Siero\\xc5\\x8. Low Levels of HDL in Fragile X Syndrome Patients. Lipids. vol 51. issue 2. 2016-10-24. PMID:26712713.' |
23 male patients affected by fragile x syndrome (full mutation in the fmr1 gene) and 24 controls were included in the study. |
2016-10-24 |
2023-08-13 |
Not clear |
| Emmanuelle Kieffer, Jean-Christophe Nicod, Nathalie Gardes, Claire Kastner, Nicolas Becker, Catherine Celebi, Olivier Pirrello, Catherine Rongières, Isabelle Koscinski, Philippe Gosset, Céline Mouto. Improving preimplantation genetic diagnosis for Fragile X syndrome: two new powerful single-round multiplex indirect and direct tests. European journal of human genetics : EJHG. vol 24. issue 2. 2016-10-07. PMID:25966634. |
fragile x syndrome (frax) is caused by the expansion of an unstable cgg repeat located in the fragile x mental retardation 1 gene (fmr1) gene. |
2016-10-07 |
2023-08-13 |
Not clear |
| Weirui Guo, Laura Ceolin, Katie A Collins, Julie Perroy, Kimberly M Hube. Elevated CaMKIIα and Hyperphosphorylation of Homer Mediate Circuit Dysfunction in a Fragile X Syndrome Mouse Model. Cell reports. vol 13. issue 10. 2016-09-23. PMID:26670047. |
abnormal metabotropic glutamate receptor 5 (mglur5) function, as a result of disrupted scaffolding with its binding partner homer, contributes to the pathophysiology of fragile x syndrome, a common inherited form of intellectual disability and autism caused by mutations in fmr1. |
2016-09-23 |
2023-08-13 |
mouse |
| Yun Tae Hwang, Tracy Dudding, Solange Mabel Aliaga, Marta Arpone, David Francis, Xin Li, Howard Robert Slater, Carolyn Rogers, Lesley Bretherton, Desirée du Sart, Robert Heard, David Eugeny Godle. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes. vol 7. issue 9. 2016-09-23. PMID:27657133. |
mosaicism for fmr1 premutation (pm: 55-199 cgg)/full mutation (fm: >200 cgg) alleles or the presence of unmethylated fm (ufm) have been associated with a less severe fragile x syndrome (fxs) phenotype and fragile x associated tremor/ataxia syndrome (fxtas)-a late onset neurodegenerative disorder. |
2016-09-23 |
2023-08-13 |
Not clear |