Associated Papers
A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.
Li Q et al.
Orphanet Journal of Rare Diseases, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.
Nielsen-Dandoroff E et al.
European Journal of Human Genetics : Ejhg, 2023
Multiple, short protein binding motifs in ORC1 and CDC6 control the initiation of DNA replication.
Hossain M et al.
Molecular Cell, 2021
Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.
Schmit M et al.
International Journal of Molecular Sciences, 2021
33477564 (PubMed )
Supplement: ijms-22-00911-s001.zip › Updated_Supplementary_Tables_011721 › Supplementary_Table_S1_final_version.xlsx › MGS
Analysis of cilia dysfunction phenotypes in zebrafish embryos depleted of Origin recognition complex factors.
Maerz LD et al.
European Journal of Human Genetics : Ejhg, 2019
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
de Munnik SA et al.
American Journal of Medical Genetics. Part A, 2012
Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication.
Hossain M et al.
Genes & Development, 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
de Munnik SA et al.
European Journal of Human Genetics : Ejhg, 2012
The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier-Gorlin syndrome.
Kuo AJ et al.
Nature, 2012
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
Bicknell LS et al.
Nature Genetics, 2011
Meier-Gorlin syndrome caused by ORC1 mutation associated with chromosomal breakage - coincidental finding or new feature of known syndrome?
Vojtková J et al.
Endokrynologia Polska, 0
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