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Human syndromes with congenital patellar anomalies and the underlying gene defects.
Bongers EM, van Kampen A, van Bokhoven H, Knoers NV. Bongers EM, et al. Clin Genet. 2005 Oct;68(4):302-19. doi: 10.1111/j.1399-0004.2005.00508.x. Clin Genet. 2005. PMID: 16143015 Review.
In this review, the phenotype and gene defects of syndromes with congenital patellar aplasia or hypoplasia will be discussed, including the nail patella syndrome, small patella syndrome, isolated patella aplasia hypoplasia, Meier-Gorlin syndrome, RAPADILINO s …
In this review, the phenotype and gene defects of syndromes with congenital patellar aplasia or hypoplasia will be discussed, including the …
The origin recognition complex in human diseases.
Shen Z. Shen Z. Biosci Rep. 2013 Jun 11;33(3):e00044. doi: 10.1042/BSR20130036. Biosci Rep. 2013. PMID: 23662735 Free PMC article. Review.
Notably, a number of reports connect ORC to numerous human diseases, including MGS (Meier-Gorlin syndrome), EBV (Epstein-Barr virus)-infected diseases, American trypanosomiasis and African trypanosomiasis. ...
Notably, a number of reports connect ORC to numerous human diseases, including MGS (Meier-Gorlin syndrome), EBV (Epstei …
Dormant origins, the licensing checkpoint, and the response to replicative stresses.
McIntosh D, Blow JJ. McIntosh D, et al. Cold Spring Harb Perspect Biol. 2012 Oct 1;4(10):a012955. doi: 10.1101/cshperspect.a012955. Cold Spring Harb Perspect Biol. 2012. PMID: 22904560 Free PMC article. Review.
The licensing checkpoint delays entry into S phase if an insufficient number of origins have been licensed. In contrast, humans with Meier-Gorlin syndrome have mutations in pre-RC proteins and show defects in cell proliferation that may be a consequence of ch …
The licensing checkpoint delays entry into S phase if an insufficient number of origins have been licensed. In contrast, humans with Meie …