Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Vivi Li + 972 word(s) 972 2020-12-15 07:53:31

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
No, upload directly Yes
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Li, V. FMR1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5567 (accessed on 21 September 2026).
Li V. FMR1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5567. Accessed September 21, 2026.
Li, Vivi. "FMR1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5567 (accessed September 21, 2026).
Li, V. (2020, December 25). FMR1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5567
Li, Vivi. "FMR1 Gene." Encyclopedia. Web. 25 December, 2020.
FMR1 Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/fmr1

Fragile X mental retardation 1

genes

References

  1. Bretherick KL, Fluker MR, Robinson WP. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. HumGenet. 2005 Aug;117(4):376-82.
  2. Hagerman R, Hagerman P. Advances in clinical and molecular understanding ofthe FMR1 premutation and fragile X-associated tremor/ataxia syndrome. LancetNeurol. 2013 Aug;12(8):786-98. doi: 10.1016/S1474-4422(13)70125-X. Review.
  3. Hagerman RJ, Berry-Kravis E, Hazlett HC, Bailey DB Jr, Moine H, Kooy RF,Tassone F, Gantois I, Sonenberg N, Mandel JL, Hagerman PJ. Fragile X syndrome.Nat Rev Dis Primers. 2017 Sep 29;3:17065. doi: 10.1038/nrdp.2017.65. Review.
  4. Hagerman RJ, Protic D, Rajaratnam A, Salcedo-Arellano MJ, Aydin EY, Schneider A. Fragile X-Associated Neuropsychiatric Disorders (FXAND). Front Psychiatry.2018 Nov 13;9:564. doi: 10.3389/fpsyt.2018.00564.
  5. Hessl D, Wang JM, Schneider A, Koldewyn K, Le L, Iwahashi C, Cheung K, TassoneF, Hagerman PJ, Rivera SM. Decreased fragile X mental retardation proteinexpression underlies amygdala dysfunction in carriers of the fragile Xpremutation. Biol Psychiatry. 2011 Nov 1;70(9):859-65. doi:10.1016/j.biopsych.2011.05.033.
  6. Hunsaker MR, Greco CM, Spath MA, Smits AP, Navarro CS, Tassone F, Kros JM,Severijnen LA, Berry-Kravis EM, Berman RF, Hagerman PJ, Willemsen R, Hagerman RJ,Hukema RK. Widespread non-central nervous system organ pathology in fragile Xpremutation carriers with fragile X-associated tremor/ataxia syndrome and CGGknock-in mice. Acta Neuropathol. 2011 Oct;122(4):467-79. doi:10.1007/s00401-011-0860-9.
  7. Hunter JE, Berry-Kravis E, Hipp H, Todd PK. FMR1 Disorders. 1998 Jun 16[updated 2019 Nov 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1384/
  8. Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, ZhangL, Jardini T, Gane LW, Harris SW, Herman K, Grigsby J, Greco CM, Berry-Kravis E, Tassone F, Hagerman PJ. Penetrance of the fragile X-associated tremor/ataxiasyndrome in a premutation carrier population. JAMA. 2004 Jan 28;291(4):460-9.
  9. Kim K, Hessl D, Randol JL, Espinal GM, Schneider A, Protic D, Aydin EY,Hagerman RJ, Hagerman PJ. Association between IQ and FMR1 protein (FMRP) acrossthe spectrum of CGG repeat expansions. PLoS One. 2019 Dec 31;14(12):e0226811.doi: 10.1371/journal.pone.0226811.
  10. Li Y, Jin P. RNA-mediated neurodegeneration in fragile X-associatedtremor/ataxia syndrome. Brain Res. 2012 Jun 26;1462:112-7. doi:10.1016/j.brainres.2012.02.057.
  11. Ma L, Herren AW, Espinal G, Randol J, McLaughlin B, Martinez-Cerdeño V, PessahIN, Hagerman RJ, Hagerman PJ. Composition of the Intranuclear Inclusions ofFragile X-associated Tremor/Ataxia Syndrome. Acta Neuropathol Commun. 2019 Sep3;7(1):143. doi: 10.1186/s40478-019-0796-1.
  12. Tassone F, Beilina A, Carosi C, Albertosi S, Bagni C, Li L, Glover K, Bentley D, Hagerman PJ. Elevated FMR1 mRNA in premutation carriers is due to increasedtranscription. RNA. 2007 Apr;13(4):555-62.
  13. Todd PK, Oh SY, Krans A, He F, Sellier C, Frazer M, Renoux AJ, Chen KC,Scaglione KM, Basrur V, Elenitoba-Johnson K, Vonsattel JP, Louis ED, Sutton MA,Taylor JP, Mills RE, Charlet-Berguerand N, Paulson HL. CGG repeat-associatedtranslation mediates neurodegeneration in fragile X tremor ataxia syndrome.Neuron. 2013 May 8;78(3):440-55. doi: 10.1016/j.neuron.2013.03.026.
  14. Wang JY, Hessl D, Hagerman RJ, Simon TJ, Tassone F, Ferrer E, Rivera SM.Abnormal trajectories in cerebellum and brainstem volumes in carriers of thefragile X premutation. Neurobiol Aging. 2017 Jul;55:11-19. doi:10.1016/j.neurobiolaging.2017.03.018.
  15. Wheeler A, Raspa M, Hagerman R, Mailick M, Riley C. Implications of the FMR1Premutation for Children, Adolescents, Adults, and Their Families. Pediatrics.2017 Jun;139(Suppl 3):S172-S182. doi: 10.1542/peds.2016-1159D. Review.
  16. Wittenberger MD, Hagerman RJ, Sherman SL, McConkie-Rosell A, Welt CK, RebarRW, Corrigan EC, Simpson JL, Nelson LM. The FMR1 premutation and reproduction.Fertil Steril. 2007 Mar;87(3):456-65.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vivi Li
View Times: 819
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 25 Dec 2020
Table of Contents
    Notice
    You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
    OK
    Confirm
    Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
    Yes
    No
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    There is no comment~
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    ${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
    Submit
    Cancel
    Confirm
    Are you sure to Delete?
    Yes No
    Academic Video Service
    Feedback