The DOI matches its Crossref record; 19 of the 19 references it cites were found in a registry or an index.
Mutations in the Pericentrin ( PCNT ) Gene Cause Primordial Dwarfism
Abstract
Fundamental processes influencing human growth can be revealed by studying extreme short stature. Using genetic linkage analysis, we find that biallelic loss-of-function mutations in the centrosomal pericentrin ( PCNT ) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients. Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence. Absence of PCNT results in disorganized mitotic spindles and missegregation of chromosomes. Mutations in related genes are known to cause primary microcephaly ( MCPH1, CDK5RAP2, ASPM , and CENPJ ).
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The Brain of LB1, Homo floresiensis
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Cdk5rap2 exposes the centrosomal root of microcephaly syndromes
Megraw, T. L., Sharkey, J. T., & Nowakowski, R. S. (2011) · Trends in Cell Biology · doi:10.1016/j.tcb.2011.04.007 · Cited by 124
CDK5RAP2 functions in centrosome to spindle pole attachment and DNA damage response
Barr, A. R., Kilmartin, J. V., & Gergely, F. (2010) · Journal of Cell Biology · doi:10.1083/jcb.200912163 · Cited by 120
Transcript catalogs of human chromosome 21 and orthologous chimpanzee and mouse regions
Sturgeon, X., & Gardiner, K. J. (2011) · Mammalian Genome · doi:10.1007/s00335-011-9321-y · Cited by 117
Kinetochore KMN network gene CASC5 mutated in primary microcephaly
Genin, A., Desir, J., Lambert, N., Biervliet, M., Van Der Aa, N., Pierquin, G., Killian, A., Tosi, M., Urbina, M., Lefort, A., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds386 · Cited by 116
Metadata
- Authors
- Rauch, A., Thiel, C. T., Schindler, D., Wick, U., Crow, Y. J., Ekici, A. B., van Essen, A. J., Goecke, T. O., Al-Gazali, L., Chrzanowska, K. H., Zweier, C., Brunner, H. G., Becker, K., Curry, C. J., Dallapiccola, B., Devriendt, K., Dörfler, A., Kinning, E., Megarbane, A., Meinecke, P., Semple, R. K., Spranger, S., Toutain, A., Trembath, R. C., Voss, E., Wilson, L., Hennekam, R., de Zegher, F., Dörr, H.-G., & Reis, A.
- Venue
- Science
- Published
- 2008-02-08
- Volume
- 319
- Issue
- 5864
- Pages
- 816-819
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2106995317
- Cited by
- 396
- References
- 19
- FWCI
- 16.87
- Type
- journal article
- Language
- en
- Open access
- closed
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- Rauch, A., Thiel, C. T., Schindler, D., Wick, U., Crow, Y. J., Ekici, A. B., van Essen, A. J., Goecke, T. O., Al-Gazali, L., Chrzanowska, K. H., Zweier, C., Brunner, H. G., Becker, K., Curry, C. J., Dallapiccola, B., Devriendt, K., Dörfler, A., Kinning, E., Megarbane, A., . . . Reis, A. (2008). Mutations in the Pericentrin ( PCNT ) Gene Cause Primordial Dwarfism. Science. https://doi.org/10.1126/science.1151174
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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