The DOI matches its Crossref record; 133 of the 133 references it cites were found in a registry or an index.
The Pathophysiology of Fragile X Syndrome
Abstract
Fragile X syndrome is the most common form of inherited mental retardation. The disorder is mainly caused by the expansion of the trinucleotide sequence CGG located in the 5' UTR of the FMR1 gene on the X chromosome. The abnormal expansion of this triplet leads to hypermethylation and consequent silencing of the FMR1 gene. Thus, the absence of the encoded protein (FMRP) is the basis for the phenotype. FMRP is a selective RNA-binding protein that associates with polyribosomes and acts as a negative regulator of translation. FMRP appears to play an important role in synaptic plasticity by regulating the synthesis of proteins encoded by certain mRNAs localized in the dendrite. An advancing understanding of the pathophysiology of this disorder has led to promising strategies for pharmacologic interventions.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“The disorder is primarily caused by expansion of a CGG triplet repeat in the 5 ′ untranslated region of the fragile X mental retardation 1 ( FMR1 ) gene that cause a reduction of the FMR1 protein, although several other mutations in FMR1 have been described 90 .”
From Developmental timing and critical windows for the treatment of psychiatric disorders (2016) · cites this paper as [90]
Citations
Cites
Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481
Self-citationFu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkert, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Warren, S. T., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90283-5 · Cited by 2,080
Self-citationThe mGluR theory of fragile X mental retardation
Bear, M. F., Huber, K. M., & Warren, S. T. (2004) · Trends in Neurosciences · doi:10.1016/j.tins.2004.04.009 · Cited by 1,580
Self-citationInstability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome
Oberlé, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boué, J., Bertheas, M. F., & Mandel, J. L. (1991) · Science · doi:10.1126/science.252.5009.1097 · Cited by 1,499
Absence of expression of the FMR-1 gene in fragile X syndrome
Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991) · Cell · doi:10.1016/0092-8674(91)90125-i · Cited by 1,476
Self-citationAltered synaptic plasticity in a mouse model of fragile X mental retardation
Huber, K. M., Gallagher, S. M., Warren, S. T., & Bear, M. F. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.122205699 · Cited by 1,349
Self-citationStructure and function of dendritic spines
Nimchinsky, E. A., Sabatini, B. L., & Svoboda, K. (2002) · Annual Review of Physiology · doi:10.1146/annurev.physiol.64.081501.160008 · Cited by 1,208
Brown, V., Jin, P., Ceman, S., Darnell, J. C., O'Donnell, W. T., Tenenbaum, S. A., Jin, X., Feng, Y., Wilkinson, K. D., Keene, J. D., et al. (2001) · Cell · doi:10.1016/s0092-8674(01)00568-2 · Cited by 1,109
Self-citationFmr1 knockout mice: A model to study fragile X mental retardation
THEDUTCHBELGIANFRAGILEXCONSOR (1994) · Cell · doi:10.1016/0092-8674(94)90569-x · Cited by 1,108
Research works printed but not linked: 12
- Ceman S, 1999, Cell. Biol., 19, 7925
- Dutch-Belgian Fragile X Consortium, 1994, Cell, 78, 23
- Fisch GS, 1995, Am. J. Hum. Genet., 56, 1147
- Lehrke RG, 1974, Birth Defects Orig. Artic. Ser., 10, 1
- Lubs HA, 1969, Am. J. Hum. Genet., 21, 231
- Martin J, 1943, Arch. Neurol. Psychiat., 6, 154
- Nolin SL, 1996, Am. J. Med. Genet., 59, 1252
- Penrose LS, 1938, Special Report Series, Medical Research Council 299
- Rousseau F, 1995, Am. J. Hum. Genet., 57, 1006
- Santoro N, 2003, Ann. Endocrinol., 64, 87
- Suthers GK, 1990, Am. J. Hum. Genet., 47, 187
- Wohrle D, 1992, Am. J. Hum. Genet., 51, 299
Cited by
Sorted by citations
Items 401–420 of 420
Noman, A. A., Saba, A. A., Adiba, M., Rahman, M., Sayem, M., Nabi, A. H. M. N., & Yasmin, T. (2026) · Journal of korean Academy of Child and Adolescent Psychiatry · doi:10.5765/jkacap.250023
Olfactory Deficits in Fragile X Syndrome
Kuruppath, P. (2026) · European Journal of Neuroscience · doi:10.1111/ejn.70357
Electroretinography biomarkers indicate disrupted visual processing in Fragile X syndrome
Pu, Q., Bennett, N., Sekhar, T. C., Stanley, M. T., & Berry‐Kravis, E. (2026) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-026-09684-2
Bizarro, J. (2013) · theses.fr (ABES) · doi:10.70675/7ea370b3z86e5z4d67zb563z470e005ed8ec
Analyse systématique de la localisation d'ARNm dans les cellules humaines par de nouvelles approches
Chouaib, R. (2016) · theses.fr (ABES) · doi:10.70675/b89592f5zc502z4fdez9eecz95acfb976747
Studying Neuronal Connectivity in the Mouse Brain in Normal Condition and Fragile X Syndrome
Haberl, M. G. (2014) · theses.fr (ABES) · doi:10.70675/cbb47168z82fbz41a1z9174zd9e36b2b5a6d
Regulation of the protein synthesis machinery in the striatum
Biever, A. (2016) · theses.fr (ABES) · doi:10.70675/d51e3b2cz4ba2z4930z8686z2d89c7f3949d
Dodré, M. (2014) · theses.fr (ABES) · doi:10.70675/b97d6973z95aaz4364z8030z3b86fc1d910d
Synaptic modifications in hippocampal CA3 pyramidal cells in an Alzheimer's mouse model
Zhang, P. (2017) · theses.fr (ABES) · doi:10.70675/74cb83e0z6db8z4bb5z838dz6e1bb1c6275f
Felgerolle, C. (2019) · theses.fr (ABES) · doi:10.70675/fbd5cf69zed5az4a57zbfdez48e26a937a72
Drozd, M. M. (2020) · theses.fr (ABES) · doi:10.70675/bd6e393fzd4c4z4de0z8980z0e6ffa109757
Bermudez-Martin, P. (2020) · theses.fr (ABES) · doi:10.70675/d0d223ffzbc0ez44d9z8475z153f265e94f5
Havusha-Laufer, S., Krishnaswamy, V. R., Krugliak-Shechter, N., Shenoy, A., Zur, M. K., Kuznitsov-Yanovsky, L., Solomonov, I., Hanna, J. H., Sagi, I., & Yosef, D. B. (2026) · Molecular Brain · doi:10.1186/s13041-026-01280-8
Luque, M. A., Dufresne, L., Torres, B., & Herrero, L. (2026) · Neuroscience · doi:10.1016/j.neuroscience.2026.08.013
Luo, T., Xia, L., Li, J., & Xia, K. (2026) · Journal of Translational Genetics and Genomics · doi:10.20517/jtgg.2026.62
Lawal, S. A., Mujtaba, M., & Shrestha, P. (2026) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2026.106993
Association between FMR1 mRNA levels and clinical phenotypes in Fragile X syndromePreprint
Heald, B., McKinney, W. S., Schmitt, L., Dominick, K. C., Lacher, R. K., Piloto, S., Groß, C., & Erickson, C. A. (2026) · Research Square · doi:10.21203/rs.3.rs-11053577/v1
Metadata
- Authors
- Penagarikano, O., Mulle, J. G., & Warren, S. T.
- Affiliations
- Department of Human Genetics, 2Department of Biochemistry and 3Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia 30322;, ,
- Emory University (US)
- Venue
- Annual Review of Genomics and Human Genetics
- Publisher
- Annual Reviews
- Published
- 2007-09-01
- Volume
- 8
- Issue
- 1
- Pages
- 109-129
- ISSN
- 1527-8204 (ISSN-L)
- 1545-293X
- OpenAlex
- W2141296384
- Cited by
- 420
- References
- 133
- Citations by year
- 2026: 13 · 2025: 12 · 2024: 10 · 2023: 11 · 2022: 11 · 2021: 19 · 2020: 14 · 2019: 26 · 2018: 21 · 2017: 20 · 2016: 24 · 2015: 24 · 2014: 32 · 2013: 27 · 2012: 39
- FWCI
- 2.97
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annual Review of Genomics and Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- fragile X syndrome, FMR1 gene, CGG repeat expansion, FMRP, RNA-binding proteins, translational regulation, synaptic plasticity, dendritic mRNA localization, epigenetic silencing, hypermethylation, intellectual disability, pathophysiology, pharmacological interventions
- MeSH terms
- Base Sequence, Fragile X Syndrome, Humans, Models, Biological, Molecular Sequence Data, Mutation, Neurons, Nucleic Acid Conformation, Trinucleotide Repeats, Inheritance Patterns, Chromosomes, Human, X, Fragile X Messenger Ribonucleoprotein 1
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
