Published in Am J Hum Genet on January 04, 2007
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Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. Proc Natl Acad Sci U S A (2007) 1.11
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Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. Am J Med Genet A (2014) 0.84
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X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. Orphanet J Rare Dis (2013) 0.80
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Cullin4A and cullin4B are interchangeable for HIV Vpr and Vpx action through the CRL4 ubiquitin ligase complex. J Virol (2014) 0.80
Enhanced LPS-induced peritonitis in mice deficiency of cullin 4B in macrophages. Genes Immun (2014) 0.80
Distinct and overlapping functions of the cullin E3 ligase scaffolding proteins CUL4A and CUL4B. Gene (2015) 0.79
CUL4B promotes replication licensing by up-regulating the CDK2-CDC6 cascade. J Cell Biol (2013) 0.79
Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches. J Obes (2012) 0.79
Proteostasis and RNA Binding Proteins in Synaptic Plasticity and in the Pathogenesis of Neuropsychiatric Disorders. Neural Plast (2016) 0.78
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness. PLoS One (2014) 0.78
A functional variant of NEDD4L is associated with obesity and related phenotypes in a Han population of Southern China. Int J Mol Sci (2013) 0.78
Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up. Mol Cytogenet (2014) 0.77
Knockdown of CUL4B inhibits proliferation and promotes apoptosis of colorectal cancer cells through suppressing the Wnt/β-catenin signaling pathway. Int J Clin Exp Pathol (2015) 0.76
Dysregulation of the miR-194-CUL4B negative feedback loop drives tumorigenesis in non-small-cell lung carcinoma. Mol Oncol (2017) 0.76
Intellectual disability-associated dBRWD3 regulates gene expression through inhibition of HIRA/YEM-mediated chromatin deposition of histone H3.3. EMBO Rep (2015) 0.76
Dysregulation of CUL4A and CUL4B Ubiquitin Ligases in Lung Cancer. J Biol Chem (2016) 0.76
The role of cullin4B in human cancers. Exp Hematol Oncol (2017) 0.75
Amyloid Precursor Protein (APP) May Act as a Substrate and a Recognition Unit for CRL4CRBN and Stub1 E3 Ligases Facilitating Ubiquitination of Proteins Involved in Presynaptic Functions and Neurodegeneration. J Biol Chem (2016) 0.75
PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism. Mov Disord (2016) 0.75
Human X-linked Intellectual Disability Factor CUL4B Is Required for Post-meiotic Sperm Development and Male Fertility. Sci Rep (2016) 0.75
Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection. Hum Genome Var (2017) 0.75
A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency. BMC Med Genet (2015) 0.75
Panx3 links body mass index and tumorigenesis in a genetically heterogeneous mouse model of carcinogen-induced cancer. Genome Med (2016) 0.75
De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. Cold Spring Harb Mol Case Stud (2016) 0.75
A cullin 4B-RING E3 ligase complex fine-tunes pancreatic δ cell paracrine interactions. J Clin Invest (2017) 0.75
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An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet (1997) 4.75
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet (1997) 4.65
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U box proteins as a new family of ubiquitin-protein ligases. J Biol Chem (2001) 3.70
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Emerging roles of ubiquitin in transcription regulation. Science (2002) 2.92
Ratchets and clocks: the cell cycle, ubiquitylation and protein turnover. Nat Rev Mol Cell Biol (2003) 2.64
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L2DTL/CDT2 interacts with the CUL4/DDB1 complex and PCNA and regulates CDT1 proteolysis in response to DNA damage. Cell Cycle (2006) 2.37
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nat Genet (1999) 1.87
Oncogenic aberrations of cullin-dependent ubiquitin ligases. Oncogene (2004) 1.51
Involvement of CUL4 ubiquitin E3 ligases in regulating CDK inhibitors Dacapo/p27Kip1 and cyclin E degradation. Cell Cycle (2006) 1.51
ARX: a gene for all seasons. Curr Opin Genet Dev (2006) 1.46
When protein destruction runs amok, malignancy is on the loose. Cancer Cell (2003) 1.26
UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. Am J Hum Genet (2006) 1.14
Splitting and lumping in the nosology of XLMR. Am J Med Genet (2000) 1.10
A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25. J Med Genet (2000) 1.02
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Mutations of the BRAF gene in human cancer. Nature (2002) 65.42
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet (2008) 43.63
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Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23
COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res (2010) 25.55
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A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature (2009) 18.39
Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell (2011) 16.72
Systematic identification of genomic markers of drug sensitivity in cancer cells. Nature (2012) 15.91
Multiple newly identified loci associated with prostate cancer susceptibility. Nat Genet (2008) 15.43
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature (2010) 14.50