The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.
A Molecular Pathway Revealing a Genetic Basis for Human Cardiac and Craniofacial Defects
Abstract
Microdeletions of chromosome 22q11 are the most common genetic defects associated with cardiac and craniofacial anomalies in humans. A screen for mouse genes dependent on dHAND, a transcription factor implicated in neural crest development, identified Ufd1 , which maps to human 22q11 and encodes a protein involved in degradation of ubiquitinated proteins. Mouse Ufd1 was specifically expressed in most tissues affected in patients with 22q11 deletion syndrome. The human UFD1L gene was deleted in all 182 patients studied with 22q11 deletion, and a smaller deletion of approximately 20 kilobases that removed exons 1 to 3 of UFD1L was found in one individual with features typical of 22q11 deletion syndrome. These data suggest that UFD1L haploinsufficiency contributes to the congenital heart and craniofacial defects seen in 22q11 deletion.
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Cites
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Self-citationCranial and cardiac neural crest defects in endothelin-A receptor-deficient mice
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Cited by
McDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A. S., Zackai, E. H., Emanuel, B. S., Vermeesch, J. R., Morrow, B. E., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.71 · Cited by 2,236
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
Jerome, L. A., & Papaioannou, V. E. (2001) · Nature Genetics · doi:10.1038/85845 · Cited by 1,084
Ubiquitin-mediated proteolysis: biological regulation via destruction
Ciechanover, A., Orian, A., & Schwartz, A. L. (2000) · BioEssays · doi:10.1002/(sici)1521-1878(200005)22:5<442::aid-bies6>3.0.co;2-q · Cited by 853
Mechanisms underlying structural variant formation in genomic disorders
Carvalho, C. M. B., & Lupski, J. R. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2015.25 · Cited by 774
A genetic blueprint for cardiac development
Srivastava, D., & Olson, E. N. (2000) · Nature · doi:10.1038/35025190 · Cited by 631
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Metadata
- Authors
- Yamagishi, H., Garg, V., Matsuoka, R., Thomas, T., & Srivastava, D.
- Venue
- Science
- Published
- 1999-02-19
- Volume
- 283
- Issue
- 5405
- Pages
- 1158-1161
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2025281664
- Cited by
- 277
- References
- 31
- FWCI
- 24.15
- Type
- journal article
- Language
- en
- Open access
- closed
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- Yamagishi, H., Garg, V., Matsuoka, R., Thomas, T., & Srivastava, D. (1999). A Molecular Pathway Revealing a Genetic Basis for Human Cardiac and Craniofacial Defects. Science. https://doi.org/10.1126/science.283.5405.1158
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