MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency-Reference-Cited by-同舟云学术

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

Published:2021-03-02 Issue:7 Volume:29 Page:1110-1120
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Knapp Karen M.,Jenkins Danielle E.,Sullivan Rosie,Harms Frederike L.,von Elsner Leonie,Ockeloen Charlotte W.,de Munnik Sonja,Bongers Ernie M. H. F.,Murray Jennie,Pachter Nicholas,Denecke Jonas,Kutsche Kerstin,Bicknell Louise S.^ORCID

Funder

Manatu Hauora | Health Research Council of New Zealand

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-021-00839-4.pdf

Reference45 articles.

1. Evrin C, Clarke P, Zech J, Lurz R, Sun J, Uhle S, et al. A double-hexameric MCM2-7 complex is loaded onto origin DNA during licensing of eukaryotic DNA replication. Proc Natl Acad Sci USA. 2009;106:20240–5.

2. Remus D, Beuron F, Tolun G, Griffith JD, Morris EP, Diffley JF. Concerted loading of Mcm2-7 double hexamers around DNA during DNA replication origin licensing. Cell. 2009;139:719–30.

3. Duzdevich D, Warner MD, Ticau S, Ivica NA, Bell SP, Greene EC. The dynamics of eukaryotic replication initiation: origin specificity, licensing, and firing at the single-molecule level. Mol Cell. 2015;58:483–94.

4. Fu YV, Yardimci H, Long DT, Ho TV, Guainazzi A, Bermudez VP, et al. Selective bypass of a lagging strand roadblock by the eukaryotic replicative DNA helicase. Cell. 2011;146:931–41.

5. Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, et al. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet. 2011;43:356–9.

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