Associated Papers
3-M syndrome: evolution of the phenotype over time.
Bacchi I et al.
Italian Journal of Pediatrics, 2025
Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants.
Xu N et al.
Frontiers in Genetics, 2023
Structure of CRL7FBXW8 reveals coupling with CUL1-RBX1/ROC1 for multi-cullin-RING E3-catalyzed ubiquitin ligation.
Hopf LVM et al.
Nature Structural & Molecular Biology, 2022
Cullin-RING E3 Ubiquitin Ligase 7 in Growth Control and Cancer.
Pan ZQ
Advances in Experimental Medicine and Biology, 2020
Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development.
Wang P et al.
The Journal of Clinical Investigation, 2019
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Boldt K et al.
Nature Communications, 2016
The 3M complex maintains microtubule and genome integrity.
Yan J et al.
Molecular Cell, 2014
CUL9 mediates the functions of the 3M complex and ubiquitylates survivin to maintain genome integrity.
Li Z et al.
Molecular Cell, 2014
Clinical utility gene card for: 3-M syndrome - update 2013.
Holder-Espinasse M et al.
European Journal of Human Genetics : Ejhg, 2014
3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature.
Al-Dosari MS et al.
The Journal of Pediatrics, 2012
Clinical utility gene card for: 3M syndrome.
Holder-Espinasse M et al.
European Journal of Human Genetics : Ejhg, 2011
The 3M syndrome.
Huber C et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2011
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
Huber C et al.
European Journal of Human Genetics : Ejhg, 2009
Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.
Maksimova N et al.
Journal of Medical Genetics, 2007
Identification of mutations in CUL7 in 3-M syndrome.
Huber C et al.
Nature Genetics, 2005