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Title
Variants inCUL4Bare Associated with Cerebral Malformations
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 36, Issue 1, Pages 106-117
Publisher
Wiley
Online
2014-11-11
DOI
10.1002/humu.22718
References
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Related references
Note: Only part of the references are listed.- Donor splice-site mutation inCUL4Bis likely cause of X-linked intellectual disability
- (2014) Eric R. Londin et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- XLID CUL4B mutants are defective in promoting TSC2 degradation and positively regulating mTOR signaling in neocortical neurons
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- CRL4B promotes tumorigenesis by coordinating with SUV39H1/HP1/DNMT3A in DNA methylation-based epigenetic silencing
- (2013) Y Yang et al. ONCOGENE
- Cul4B regulates neural progenitor cell growth
- (2012) Helio C Liu et al. BMC NEUROSCIENCE
- CRL4B Catalyzes H2AK119 Monoubiquitination and Coordinates with PRC2 to Promote Tumorigenesis
- (2012) Huili Hu et al. CANCER CELL
- Microcephaly Gene Links Trithorax and REST/NRSF to Control Neural Stem Cell Proliferation and Differentiation
- (2012) Yawei J. Yang et al. CELL
- Rescue of the genetically engineered Cul4b mutant mouse as a potential model for human X-linked mental retardation
- (2012) Chun-Yu Chen et al. HUMAN MOLECULAR GENETICS
- De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
- (2012) Jean-Baptiste Rivière et al. NATURE GENETICS
- Genetic and Epigenetic Networks in Intellectual Disabilities
- (2011) Hans van Bokhoven Annual Review of Genetics
- Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations
- (2011) V Bhat et al. CLINICAL GENETICS
- Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair
- (2011) K Ravn et al. CLINICAL GENETICS
- Cullin 4B Protein Ubiquitin Ligase Targets Peroxiredoxin III for Degradation
- (2011) Xi Li et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- CUL4B-deficiency in humans: Understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function
- (2011) Claudia Kerzendorfer et al. MECHANISMS OF AGEING AND DEVELOPMENT
- X-Linked Mental Retardation Gene CUL4B Targets Ubiquitylation of H3K4 Methyltransferase Component WDR5 and Regulates Neuronal Gene Expression
- (2011) Tadashi Nakagawa et al. MOLECULAR CELL
- The cullin protein family
- (2011) Antonio Sarikas et al. GENOME BIOLOGY
- Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability
- (2010) Annabel C. Whibley et al. AMERICAN JOURNAL OF HUMAN GENETICS
- mTORC1 signaling requires proteasomal function and the involvement of CUL4-DDB1 ubiquitin E3 ligase
- (2010) Papia Ghosh et al. CELL CYCLE
- Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
- (2010) Kaya Bilgüvar et al. NATURE
- Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture
- (2010) Timothy W Yu et al. NATURE GENETICS
- WDR62 is associated with the spindle pole and is mutated in human microcephaly
- (2010) Adeline K Nicholas et al. NATURE GENETICS
- Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia
- (2009) Bertrand Isidor et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A novel nonsense mutation inCUL4Bgene in three brothers with X-linked mental retardation syndrome
- (2009) M Badura-Stronka et al. CLINICAL GENETICS
- REDD1, an inhibitor of mTOR signalling, is regulated by the CUL4A–DDB1 ubiquitin ligase
- (2009) Samiksha Katiyar et al. EMBO REPORTS
- Characterization of Nuclear Localization Signal in the N Terminus of CUL4B and Its Essential Role in Cyclin E Degradation and Cell Cycle Progression
- (2009) Yongxin Zou et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- WDR5, a complexed protein
- (2009) Raymond C Trievel et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- CRL4s: the CUL4-RING E3 ubiquitin ligases
- (2009) Sarah Jackson et al. TRENDS IN BIOCHEMICAL SCIENCES
- WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase
- (2008) J. Hu et al. GENES & DEVELOPMENT
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