| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| X Shawn Liu, Hao Wu, Marine Krzisch, Xuebing Wu, John Graef, Julien Muffat, Denes Hnisz, Charles H Li, Bingbing Yuan, Chuanyun Xu, Yun Li, Dan Vershkov, Angela Cacace, Richard A Young, Rudolf Jaenisc. Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene. Cell. vol 172. issue 5. 2019-01-21. PMID:29456084. |
rescue of fragile x syndrome neurons by dna methylation editing of the fmr1 gene. |
2019-01-21 |
2023-08-13 |
mouse |
| X Shawn Liu, Hao Wu, Marine Krzisch, Xuebing Wu, John Graef, Julien Muffat, Denes Hnisz, Charles H Li, Bingbing Yuan, Chuanyun Xu, Yun Li, Dan Vershkov, Angela Cacace, Richard A Young, Rudolf Jaenisc. Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene. Cell. vol 172. issue 5. 2019-01-21. PMID:29456084. |
fragile x syndrome (fxs), the most common genetic form of intellectual disability in males, is caused by silencing of the fmr1 gene associated with hypermethylation of the cgg expansion mutation in the 5' utr of fmr1 in fxs patients. |
2019-01-21 |
2023-08-13 |
mouse |
| Eliana D Weisz, Atif Towheed, Rachel E Monyak, Meridith S Toth, Douglas C Wallace, Thomas A Jongen. Loss of Drosophila FMRP leads to alterations in energy metabolism and mitochondrial function. Human molecular genetics. vol 27. issue 1. 2019-01-02. PMID:29106525. |
fragile x syndrome (fxs), the most prevalent form of inherited intellectual disability and the foremost monogenetic cause of autism, is caused by loss of expression of the fmr1 gene . |
2019-01-02 |
2023-08-13 |
drosophila_melanogaster |
| Deepika Delsa Dean, Sarita Agarwal, Deepa Kapoor, Kuldeep Singh, Chandra Vat. Molecular Characterization of FMR1 Gene by TP-PCR in Women of Reproductive Age and Women with Premature Ovarian Insufficiency. Molecular diagnosis & therapy. vol 22. issue 1. 2018-11-13. PMID:29188551. |
fragile x syndrome is caused by cgg repeat expansion mutation in the fmr1 gene. |
2018-11-13 |
2023-08-13 |
Not clear |
| Benhong Xu, Yusheng Zhang, Shaohua Zhan, Xia Wang, Haisong Zhang, Xianbin Meng, Wei G. Proteomic Profiling of Brain and Testis Reveals the Diverse Changes in Ribosomal Proteins in fmr1 Knockout Mice. Neuroscience. vol 371. 2018-11-09. PMID:29292077. |
fragile x syndrome (fxs), the leading cause of inherited forms of mental retardation and autism, is caused by the transcriptional silencing of fmr1 encoding the fragile x mental retardation protein (fmrp). |
2018-11-09 |
2023-08-13 |
mouse |
| Neeraj Kumar, Hardeep Singh Malhotra, Ravindra Kumar Gar. CGG repeat expansion at FMR1 locus - A new molecular diagnostic algorithm in fragile X syndrome. Neurology India. vol 64. issue 6. 2018-11-05. PMID:27841172. |
cgg repeat expansion at fmr1 locus - a new molecular diagnostic algorithm in fragile x syndrome. |
2018-11-05 |
2023-08-13 |
Not clear |
| Shai Elizur, Michal Berkenstadt, Liat Ries-Levavi, Noah Gruber, Orit Pinhas-Hamiel, Sharon Hassin-Baer, Annick Raas-Rothschild, Hila Raanani, Tali Cukierman-Yaffe, Raoul Orvieto, Yoram Cohen, Lidia Gabi. [FMR1 PREMUTATION CARRIERS - ARE THEY REALLY ASYMPTOMATIC?] Harefuah. vol 157. issue 4. 2018-08-10. PMID:29688643. |
fragile x syndrome (fxs), the most common form of inherited mental retardation, is caused by a trinucleotide repeat expansion (cgg) in the 5'-untranslated region of the fragile x mental retardation 1 (fmr1) gene located at xq27.3. |
2018-08-10 |
2023-08-13 |
Not clear |
| E Z Ali, Y Yakob, N Md Desa, T Ishak, Z Zakaria, L K Ngu, W T Ken. Molecular analysis of fragile X syndrome (FXS) among Malaysian patients with developmental disability. The Malaysian journal of pathology. vol 39. issue 2. 2018-07-27. PMID:28866690. |
fragile x syndrome (fxs) is a neurodevelopmental disorder commonly found worldwide, caused by the silencing of fragile x mental retardation 1 (fmr1) gene on the x-chromosome. |
2018-07-27 |
2023-08-13 |
Not clear |
| Alexandra Peyser, Tomer Singer, Christine Mullin, Avner Hershla. Reduction in the number of CGG repeats on the FMR1 gene in carriers of genetic disorders versus noncarriers. JBRA assisted reproduction. vol 21. issue 4. 2018-07-27. PMID:28967713. |
cgg repeat expansion on the fragile x mental retardation 1 (fmr1) gene is used to diagnose fragile x syndrome. |
2018-07-27 |
2023-08-13 |
Not clear |
| Deborah A Hall, Elizabeth Berry-Kravi. Fragile X syndrome and fragile X-associated tremor ataxia syndrome. Handbook of clinical neurology. vol 147. 2018-07-26. PMID:29325626. |
fragile x syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 cgg repeats in fmr1. |
2018-07-26 |
2023-08-13 |
Not clear |
| Deborah A Hall, Elizabeth Berry-Kravi. Fragile X syndrome and fragile X-associated tremor ataxia syndrome. Handbook of clinical neurology. vol 147. 2018-07-26. PMID:29325626. |
fragile x syndrome occurs when there is a lack of fragile x mental retardation protein (fmrp) due to fmr1 methylation and silencing. |
2018-07-26 |
2023-08-13 |
Not clear |
| Deborah A Hall, Elizabeth Berry-Kravi. Fragile X syndrome and fragile X-associated tremor ataxia syndrome. Handbook of clinical neurology. vol 147. 2018-07-26. PMID:29325626. |
the changes in underlying brain chemistry due to fmr1 mutations have led to therapeutic studies in these disorders, with some progress being made in fragile x syndrome. |
2018-07-26 |
2023-08-13 |
Not clear |
| Candice Lesage, Isabelle Coupier, Bernard Guillo. A family with two cases of melanocytic tumors and fragile X syndrome. Melanoma research. vol 27. issue 6. 2018-07-02. PMID:29036014. |
fragile x syndrome (fxs), a leading cause of inherited intellectual disability, most commonly results from an expansion of the cgg trinucleotide repeat in the fragile x mental retardation 1 (fmr1) gene to more than 200 copies (full mutation). |
2018-07-02 |
2023-08-13 |
Not clear |
| Samantha L Hodges, Suzanne O Nolan, Joseph H Taube, Joaquin N Lug. Adult Fmr1 knockout mice present with deficiencies in hippocampal interleukin-6 and tumor necrosis factor-α expression. Neuroreport. vol 28. issue 18. 2018-06-27. PMID:28915148. |
fragile x syndrome (fxs) is a neurodevelopmental disorder caused by a single genetic mutation in the fmr1 gene. |
2018-06-27 |
2023-08-13 |
mouse |
| Adam F Sitzmann, Robert T Hagelstrom, Flora Tassone, Randi J Hagerman, Merlin G Butle. Rare FMR1 gene mutations causing fragile X syndrome: A review. American journal of medical genetics. Part A. vol 176. issue 1. 2018-06-21. PMID:29178241. |
rare fmr1 gene mutations causing fragile x syndrome: a review. |
2018-06-21 |
2023-08-13 |
Not clear |
| Adam F Sitzmann, Robert T Hagelstrom, Flora Tassone, Randi J Hagerman, Merlin G Butle. Rare FMR1 gene mutations causing fragile X syndrome: A review. American journal of medical genetics. Part A. vol 176. issue 1. 2018-06-21. PMID:29178241. |
fragile x syndrome (fxs) is the most common inherited form of intellectual disability, typically due to cgg-repeat expansions in the fmr1 gene leading to lack of expression. |
2018-06-21 |
2023-08-13 |
Not clear |
| Merav Hecht, Amalia Tabib, Tamar Kahan, Shari Orlanski, Michal Gropp, Yuval Tabach, Ofra Yanuka, Nissim Benvenisty, Ilana Keshet, Howard Ceda. Epigenetic mechanism of FMR1 inactivation in Fragile X syndrome. The International journal of developmental biology. vol 61. issue 3-4-5. 2018-06-13. PMID:28621425. |
epigenetic mechanism of fmr1 inactivation in fragile x syndrome. |
2018-06-13 |
2023-08-13 |
Not clear |
| Bruce E Hayward, Karen Usdi. Improved Assays for AGG Interruptions in Fragile X Premutation Carriers. The Journal of molecular diagnostics : JMD. vol 19. issue 6. 2018-06-06. PMID:28818679. |
the learning disability fragile x syndrome results from the presence of >200 cgg/ccg repeats in exon 1 of the x-linked gene fmr1. |
2018-06-06 |
2023-08-13 |
Not clear |
| Julie Gaudissard, Melanie Ginger, Marika Premoli, Maurizio Memo, Andreas Frick, Susanna Pietropaol. Behavioral abnormalities in the Fmr1-KO2 mouse model of fragile X syndrome: The relevance of early life phases. Autism research : official journal of the International Society for Autism Research. vol 10. issue 10. 2018-05-18. PMID:28590057. |
fragile x syndrome (fxs) is a developmental disorder caused by a mutation in the x-linked fmr1 gene, coding for the fmrp protein which is largely involved in synaptic function. |
2018-05-18 |
2023-08-13 |
mouse |
| Victor Sabanov, Sien Braat, Laura D'Andrea, Rob Willemsen, Shimriet Zeidler, Liesbeth Rooms, Claudia Bagni, R Frank Kooy, Detlef Balschu. Impaired GABAergic inhibition in the hippocampus of Fmr1 knockout mice. Neuropharmacology. vol 116. 2018-05-09. PMID:28012946. |
many clinical and molecular features of the fragile x syndrome, a common form of intellectual disability and autism, can be modeled by deletion of the fmr1 protein (fmrp) in mice. |
2018-05-09 |
2023-08-13 |
mouse |