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Quoted phrase not found in phrase index: "Meier-Gorlin syndrome 5"
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MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.
Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati L, Zuffardi O. Vetro A, et al. Eur J Hum Genet. 2017 May;25(5):646-650. doi: 10.1038/ejhg.2017.5. Epub 2017 Feb 15. Eur J Hum Genet. 2017. PMID: 28198391 Free PMC article.
Meier-Gorlin syndrome (MGORS) is a rare disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. ...Both variants, a missense substitution within a conserved domain critical for the helicase activity, and a single base deletio …
Meier-Gorlin syndrome (MGORS) is a rare disorder characterized by primordial dwarfism, microtia, and patellar aplasia/h …
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.
Unolt M, Kammoun M, Nowakowska B, Graham GE, Crowley TB, Hestand MS, Demaerel W, Geremek M, Emanuel BS, Zackai EH, Vermeesch JR, McDonald-McGinn D. Unolt M, et al. Genet Med. 2020 Feb;22(2):326-335. doi: 10.1038/s41436-019-0645-4. Epub 2019 Sep 2. Genet Med. 2020. PMID: 31474763 Free PMC article.
RESULTS: We identified four novel rare nonsynonymous variants in CDC45 in 5/15 patients with 22q11.2DS and craniosynostosis and/or other atypical findings. ...We suggest that this association results in a condition independent of Meier-Gorlin syndrome, …
RESULTS: We identified four novel rare nonsynonymous variants in CDC45 in 5/15 patients with 22q11.2DS and craniosynostosis and/or ot …
Structure of the active form of human origin recognition complex and its ATPase motor module.
Tocilj A, On KF, Yuan Z, Sun J, Elkayam E, Li H, Stillman B, Joshua-Tor L. Tocilj A, et al. Elife. 2017 Jan 23;6:e20818. doi: 10.7554/eLife.20818. Elife. 2017. PMID: 28112645 Free PMC article.
Here, we report the structure of the active form of human ORC determined by X-ray crystallography and cryo-electron microscopy. The complex is composed of an ORC1/4/5 motor module lobe in an organization reminiscent of the DNA polymerase clamp loader complexes. ...Analysis …
Here, we report the structure of the active form of human ORC determined by X-ray crystallography and cryo-electron microscopy. The complex …