The DOI matches its Crossref record; 27 of the 27 references it cites were found in a registry or an index.
Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations
Open accessAbstract
FTO is a nuclear protein belonging to the AlkB-related non-haem iron- and 2-oxoglutarate-dependent dioxygenase family. Although polymorphisms within the first intron of the FTO gene have been associated with obesity, the physiological role of FTO remains unknown. Here we show that a R316Q mutation, inactivating FTO enzymatic activity, is responsible for an autosomal-recessive lethal syndrome. Cultured skin fibroblasts from affected subjects showed impaired proliferation and accelerated senescence. These findings indicate that FTO is essential for normal development of the central nervous and cardiovascular systems in human and establish that a mutation in a human member of the AlkB-related dioxygenase family results in a severe polymalformation syndrome.
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Cites
Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities
Faith, M. S., Carnell, S., & Kral, T. V. E. (2013) · Human Heredity · doi:10.1159/000353879 · Cited by 7,601
A biomarker that identifies senescent human cells in culture and in aging skin in vivo.
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Variation in FTO contributes to childhood obesity and severe adult obesity
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Self-citationMutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3)
Yamagata, K., Oda, N., Kaisaki, P. J., Menzel, S., Furuta, H., Vaxillaire, M., Southam, L., Cox, R. D., Lathrop, G. M., Boriraj, V. V., et al. (1996) · Nature · doi:10.1038/384455a0 · Cited by 1,614
Self-citationThe Obesity-Associated FTO Gene Encodes a 2-Oxoglutarate-Dependent Nucleic Acid Demethylase
Gerken, T., Girard, C. A., Tung, Y.-C. L., Webby, C. J., Saudek, V., Hewitson, K. S., Yeo, G. S. H., McDonough, M. A., Cunliffe, S., McNeill, L. A., et al. (2007) · Science · doi:10.1126/science.1151710 · Cited by 1,527
Self-citationInactivation of the Fto gene protects from obesity
Fischer, J., Koch, L., Emmerling, C., Vierkotten, J., Peters, T., Brüning, J. C., & Rüther, U. (2009) · Nature · doi:10.1038/nature07848 · Cited by 949
Oxidative demethylation by Escherichia coli AlkB directly reverts DNA base damage
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Self-citationAn Obesity-Associated FTO Gene Variant and Increased Energy Intake in Children
Cecil, J. E., Tavendale, R., Watt, P., Hetherington, M. M., & Palmer, C. N. A. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0803839 · Cited by 681
Cited by
Genomics, type 2 diabetes, and obesity
McCarthy, M. I. (2010) · New England Journal of Medicine · doi:10.1056/nejmra0906948 · Cited by 938
Recent advances in dynamic m 6 A RNA modification
Cao, G., Li, H.-B., Yin, Z., & Flavell, R. A. (2016) · Open Biology · doi:10.1098/rsob.160003 · Cited by 308
FTO controls reversible m6Am RNA methylation during snRNA biogenesis
Mauer, J., Sindelar, M., Despic, V., Guez, T., Hawley, B. R., Vasseur, J.-J., Rentmeister, A., Gross, S. S., Pellizzoni, L., Debart, F., et al. (2019) · Nature Chemical Biology · doi:10.1038/s41589-019-0231-8 · Cited by 268
Qasim, A., Turcotte, M., de Souza, R. J., Samaan, M. C., Champredon, D., Dushoff, J., Speakman, J. R., & Meyre, D. (2018) · Obesity Reviews · doi:10.1111/obr.12625 · Cited by 241
Self-citationRagvin, A., Moro, E., Fredman, D., Navratilova, P., Drivenes, Ø., Engström, P. G., Alonso, M. E., Mustienes, E. D. L. C., Skarmeta, J. L. G., Tavares, M. J., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0911591107 · Cited by 211
Metadata
- Authors
- Boissel, S., Reish, O., Proulx, K., Kawagoe-Takaki, H., Sedgwick, B., Yeo, G. S. H., Meyre, D., Golzio, C., Molinari, F., Kadhom, N., Etchevers, H. C., Saudek, V., Farooqi, I. S., Froguel, P., Lindahl, T., O'Rahilly, S., Munnich, A., & Colleaux, L.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2009-07
- Volume
- 85
- Issue
- 1
- Pages
- 106-111
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2093071388
- Cited by
- 396
- References
- 27
- FWCI
- 10.87
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- CoChat. (2026). Citation check: Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations. https://app.cochat.ai/papers/10.1016/j.ajhg.2009.06.002
- The paper
- Boissel, S., Reish, O., Proulx, K., Kawagoe-Takaki, H., Sedgwick, B., Yeo, G. S. H., Meyre, D., Golzio, C., Molinari, F., Kadhom, N., Etchevers, H. C., Saudek, V., Farooqi, I. S., Froguel, P., Lindahl, T., O'Rahilly, S., Munnich, A., & Colleaux, L. (2009). Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2009.06.002
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
