Published in Nat Genet on September 04, 2005
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The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am J Hum Genet (2009) 1.35
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Fbxw8 is essential for Cul1-Cul7 complex formation and for placental development. Mol Cell Biol (2006) 1.04
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Diversification of the cullin family. BMC Evol Biol (2009) 1.02
Ubiquitin ligase cullin 7 induces epithelial-mesenchymal transition in human choriocarcinoma cells. J Biol Chem (2010) 1.00
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The role of genes domesticated from LTR retrotransposons and retroviruses in mammals. Front Microbiol (2012) 0.94
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Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly. J Med Genet (2010) 0.89
The 3M complex maintains microtubule and genome integrity. Mol Cell (2014) 0.87
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Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome. J Med Genet (2013) 0.87
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Arachnomelia syndrome in Simmental cattle is caused by a homozygous 2-bp deletion in the molybdenum cofactor synthesis step 1 gene (MOCS1). BMC Genet (2011) 0.85
Identifying biological pathways that underlie primordial short stature using network analysis. J Mol Endocrinol (2014) 0.85
3-M syndrome: a growth disorder associated with IGF2 silencing. Endocr Connect (2013) 0.85
CUL1 promotes trophoblast cell invasion at the maternal-fetal interface. Cell Death Dis (2013) 0.83
3-M syndrome: a novel CUL7 mutation associated with respiratory distress and a good response to GH therapy. Endocrinol Diabetes Metab Case Rep (2015) 0.82
Evidence for a regulatory role of Cullin-RING E3 ubiquitin ligase 7 in insulin signaling. Cell Signal (2013) 0.82
Identification of the degradation determinants of insulin receptor substrate 1 for signaling cullin-RING E3 ubiquitin ligase 7-mediated ubiquitination. J Biol Chem (2012) 0.81
Polyubiquitin chain assembly and organization determine the dynamics of protein activation and degradation. Front Physiol (2014) 0.81
The GALNT9, BNC1 and CCDC8 genes are frequently epigenetically dysregulated in breast tumours that metastasise to the brain. Clin Epigenetics (2015) 0.81
Clinical utility gene card for: 3-M syndrome - update 2013. Eur J Hum Genet (2013) 0.80
Prednisolone-induced predisposition to femoral head separation and the accompanying plasma protein changes in chickens. Biomark Insights (2015) 0.79
Genomic regions associated with kyphosis in swine. BMC Genet (2010) 0.78
Identification of Novel Proteins Co-Purifying with Cockayne Syndrome Group B (CSB) Reveals Potential Roles for CSB in RNA Metabolism and Chromatin Dynamics. PLoS One (2015) 0.78
Smurf2 participates in human trophoblast cell invasion by inhibiting TGF-beta type I receptor. J Histochem Cytochem (2009) 0.78
Inhibition of Cullin-RING E3 ubiquitin ligase 7 by simian virus 40 large T antigen. Proc Natl Acad Sci U S A (2014) 0.78
Small molecule therapeutics targeting F-box proteins in cancer. Semin Cancer Biol (2015) 0.77
Genetics of Short Stature. Endocrinol Metab Clin North Am (2017) 0.75
Cullin-RING ligases in regulation of autophagy. Cell Div (2016) 0.75
Chromosome 6 microdeletion in a patient with syndromic congenital cranial dysinnervation disorder. Neurosciences (Riyadh) (2016) 0.75
Clinical utility gene card for: 3M syndrome. Eur J Hum Genet (2011) 0.75
Genotypic and histological evolution of lung cancers acquiring resistance to EGFR inhibitors. Sci Transl Med (2011) 16.94
Absolute protein expression profiling estimates the relative contributions of transcriptional and translational regulation. Nat Biotechnol (2006) 9.95
Distinct factors control histone variant H3.3 localization at specific genomic regions. Cell (2010) 8.79
Hyperdynamic plasticity of chromatin proteins in pluripotent embryonic stem cells. Dev Cell (2006) 8.53
Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01
Preexistence and clonal selection of MET amplification in EGFR mutant NSCLC. Cancer Cell (2010) 7.78
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet (2011) 6.36
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. N Engl J Med (2011) 6.34
Elevated CRAF as a potential mechanism of acquired resistance to BRAF inhibition in melanoma. Cancer Res (2008) 6.05
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet (2007) 4.99
Proteomic analysis of proteins associated with lipid droplets of basal and lipolytically stimulated 3T3-L1 adipocytes. J Biol Chem (2004) 4.89
EGFR-mediated re-activation of MAPK signaling contributes to insensitivity of BRAF mutant colorectal cancers to RAF inhibition with vemurafenib. Cancer Discov (2012) 4.72
The need for a public proteomics repository. Nat Biotechnol (2004) 4.60
Sequence and analysis of rice chromosome 4. Nature (2002) 4.39
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet (2003) 4.34
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet (2003) 3.96
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Influenza virus PB1-F2 protein induces cell death through mitochondrial ANT3 and VDAC1. PLoS Pathog (2005) 3.44
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Synthetic lethal interaction of combined BCL-XL and MEK inhibition promotes tumor regressions in KRAS mutant cancer models. Cancer Cell (2012) 3.39
BIM expression in treatment-naive cancers predicts responsiveness to kinase inhibitors. Cancer Discov (2011) 3.34
Nedd8 on cullin: building an expressway to protein destruction. Oncogene (2004) 3.29
BRAF gene amplification can promote acquired resistance to MEK inhibitors in cancer cells harboring the BRAF V600E mutation. Sci Signal (2010) 3.25
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature (2012) 3.08
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat (2004) 3.07
Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet (2002) 3.07
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
Frequent mutation of isocitrate dehydrogenase (IDH)1 and IDH2 in cholangiocarcinoma identified through broad-based tumor genotyping. Oncologist (2011) 3.05
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet (2007) 2.98
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet (2004) 2.94
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med (2011) 2.93
Lung cancers with acquired resistance to EGFR inhibitors occasionally harbor BRAF gene mutations but lack mutations in KRAS, NRAS, or MEK1. Proc Natl Acad Sci U S A (2012) 2.89
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet (2012) 2.86
A platform for rapid detection of multiple oncogenic mutations with relevance to targeted therapy in non-small-cell lung cancer. J Mol Diagn (2010) 2.86
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat (2009) 2.81
Perilipin A mediates the reversible binding of CGI-58 to lipid droplets in 3T3-L1 adipocytes. J Biol Chem (2004) 2.76
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet (2004) 2.72
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet (2004) 2.70
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. Am J Hum Genet (2004) 2.66
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. Am J Hum Genet (2004) 2.65
ALK rearrangements are mutually exclusive with mutations in EGFR or KRAS: an analysis of 1,683 patients with non-small cell lung cancer. Clin Cancer Res (2013) 2.65
Fibrodysplasia ossificans progressiva. Best Pract Res Clin Rheumatol (2008) 2.64
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet (2005) 2.64
Elements of morphology: standard terminology for the ear. Am J Med Genet A (2009) 2.64
Human formyl peptide receptor 2 senses highly pathogenic Staphylococcus aureus. Cell Host Microbe (2010) 2.64
miR-122, a paradigm for the role of microRNAs in the liver. J Hepatol (2008) 2.61
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. Arthritis Rheum (2013) 2.60
Seminal plasma reduces the effectiveness of topical polyanionic microbicides. J Infect Dis (2007) 2.57
Endothelial FAK is essential for vascular network stability, cell survival, and lamellipodial formation. J Cell Biol (2006) 2.57
Distinct pathways of genomic progression to benign and malignant tumors of the liver. Proc Natl Acad Sci U S A (2007) 2.56
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol (2010) 2.48
Longer forms of amyloid beta protein: implications for the mechanism of intramembrane cleavage by gamma-secretase. J Neurosci (2005) 2.48
The cullin protein family. Genome Biol (2011) 2.43
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2010) 2.39
Ellis-van Creveld syndrome. Orphanet J Rare Dis (2007) 2.38
Effects of early growth on blood pressure of infants of British European and South Asian origin at one year of age: the Manchester children's growth and vascular health study. J Hypertens (2008) 2.35
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet (2002) 2.33
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med (2004) 2.32
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31
Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40. Hum Mutat (2006) 2.29
Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res (2009) 2.28
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet (2005) 2.25
Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet (2008) 2.24
The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis. Genes Chromosomes Cancer (2003) 2.24
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet (2007) 2.22
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet (2004) 2.22
Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials. PLoS One (2012) 2.21
The Mdm2 RING domain C-terminus is required for supramolecular assembly and ubiquitin ligase activity. EMBO J (2006) 2.21
BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci (2002) 2.19
Purification and characterization of the human gamma-secretase complex. Biochemistry (2004) 2.18
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet (2011) 2.16
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. N Engl J Med (2016) 2.15
11beta-HSD1 inhibition ameliorates metabolic syndrome and prevents progression of atherosclerosis in mice. J Exp Med (2005) 2.12
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09
Vibratory Urticaria Associated with a Missense Variant in ADGRE2. N Engl J Med (2016) 2.09
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. Am J Hum Genet (2009) 2.09
Inhibition of p21-mediated ROS accumulation can rescue p21-induced senescence. EMBO J (2002) 2.07
Sulforaphane inhibits histone deacetylase activity in BPH-1, LnCaP and PC-3 prostate epithelial cells. Carcinogenesis (2005) 2.05
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet (2011) 2.04
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat (2007) 2.04
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet (2003) 2.04