"Fragile X Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
Descriptor ID |
D005600
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MeSH Number(s) |
C10.597.606.643.455.500 C16.131.260.830.300 C16.320.180.830.300 C16.320.322.500.500 C16.320.400.525.500
|
Concept/Terms |
Fragile X Syndrome- Fragile X Syndrome
- Fragile X Syndromes
- Syndrome, Fragile X
- Syndromes, Fragile X
- Fragile X Mental Retardation Syndrome
- X-Linked Mental Retardation and Macroorchidism
- X Linked Mental Retardation and Macroorchidism
- Martin-Bell Syndrome
- Martin Bell Syndrome
- Syndrome, Martin-Bell
- Mental Retardation, X-Linked, Associated With Marxq28
- Fra(X) Syndrome
- Marker X Syndrome
- Marker X Syndromes
- Syndrome, Marker X
- Syndromes, Marker X
FRAXE Syndrome- FRAXE Syndrome
- FRAXE Syndromes
- Syndrome, FRAXE
- Syndromes, FRAXE
- Mental Retardation, X-Linked, Associated With Fragile Site Fraxe
- Fragile X-F Mental Retardation Syndrome
- Mar (X) Syndrome
FRAXA Syndrome- FRAXA Syndrome
- FRAXA Syndromes
- Syndrome, FRAXA
- Syndromes, FRAXA
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Below are MeSH descriptors whose meaning is more general than "Fragile X Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Fragile X Syndrome".
This graph shows the total number of publications written about "Fragile X Syndrome" by people in this website by year, and whether "Fragile X Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
Year | Major Topic | Minor Topic | Total |
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1998 | 0 | 1 | 1 |
2002 | 1 | 0 | 1 |
2006 | 0 | 1 | 1 |
2011 | 1 | 0 | 1 |
2013 | 2 | 0 | 2 |
2014 | 1 | 0 | 1 |
2015 | 1 | 0 | 1 |
2017 | 1 | 0 | 1 |
2018 | 1 | 0 | 1 |
2019 | 1 | 0 | 1 |
2020 | 0 | 2 | 2 |
2021 | 1 | 0 | 1 |
2022 | 4 | 0 | 4 |
2023 | 1 | 0 | 1 |
2024 | 0 | 1 | 1 |
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Below are the most recent publications written about "Fragile X Syndrome" by people in Profiles.
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Van't Spijker HM, Richter JD. FMRP regulation of aggrecan mRNA translation controls perineuronal net development. J Neurochem. 2024 Sep; 168(9):1909-1922.
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Shah S, Sharp KJ, Raju Ponny S, Lee J, Watts JK, Berry-Kravis E, Richter JD. Antisense oligonucleotide rescue of CGG expansion-dependent FMR1 mis-splicing in fragile X syndrome restores FMRP. Proc Natl Acad Sci U S A. 2023 07 04; 120(27):e2302534120.
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Jalnapurkar I, Frazier JA, Roth M, Cochran DM, Foley A, Merk T, Venuti L, Ronco L, Raines S, Cadavid D. The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study. J Neurodev Disord. 2022 12 09; 14(1):57.
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Lozano R, Thompson T, Dixon-Weber J, Erickson CA, Berry-Kravis E, Williams S, Smith E, Frazier JA, Rosselot H, Farmer C, Hessl D. Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives. Genes (Basel). 2022 09 16; 13(9).
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Donnard E, Shu H, Garber M. Single cell transcriptomics reveals dysregulated cellular and molecular networks in a fragile X syndrome model. PLoS Genet. 2022 06; 18(6):e1010221.
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Shaffer R, Thurman AJ, Ronco L, Cadavid D, Raines S, Kim SH. Social communication in fragile X syndrome: pilot examination of the Brief Observation of Social Communication Change (BOSCC). J Neurodev Disord. 2022 01 08; 14(1):4.
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Richter JD, Zhao X. The molecular biology of FMRP: new insights into fragile X syndrome. Nat Rev Neurosci. 2021 04; 22(4):209-222.
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Shu H, Donnard E, Liu B, Jung S, Wang R, Richter JD. FMRP links optimal codons to mRNA stability in neurons. Proc Natl Acad Sci U S A. 2020 12 01; 117(48):30400-30411.
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Hien A, Molinaro G, Liu B, Huber KM, Richter JD. Ribosome profiling in mouse hippocampus: plasticity-induced regulation and bidirectional control by TSC2 and FMRP. Mol Autism. 2020 10 14; 11(1):78.
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Liu B, Molinaro G, Shu H, Stackpole EE, Huber KM, Richter JD. Optimization of ribosome profiling using low-input brain tissue from fragile X syndrome model mice. Nucleic Acids Res. 2019 03 18; 47(5):e25.