Published in J Med Genet on August 03, 2007
The cullin protein family. Genome Biol (2011) 2.43
The CUL7 E3 ubiquitin ligase targets insulin receptor substrate 1 for ubiquitin-dependent degradation. Mol Cell (2008) 1.73
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. Am J Hum Genet (2011) 1.40
An OBSL1-Cul7Fbxw8 ubiquitin ligase signaling mechanism regulates Golgi morphology and dendrite patterning. PLoS Biol (2011) 1.40
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am J Hum Genet (2009) 1.35
Ataxia telangiectasia-mutated damage-signaling kinase- and proteasome-dependent destruction of Mre11-Rad50-Nbs1 subunits in Simian virus 40-infected primate cells. J Virol (2008) 1.32
3M syndrome: a report of four cases in two families. J Clin Res Pediatr Endocrinol (2011) 1.16
Disruption of the Fbxw8 gene results in pre- and postnatal growth retardation in mice. Mol Cell Biol (2007) 1.10
Cell-intrinsic drivers of dendrite morphogenesis. Development (2013) 1.06
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
Spatial organization of ubiquitin ligase pathways orchestrates neuronal connectivity. Trends Neurosci (2013) 0.96
The cullin7 E3 ubiquitin ligase: a novel player in growth control. Cell Cycle (2008) 0.90
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
Genetically engineered mouse models for functional studies of SKP1-CUL1-F-box-protein (SCF) E3 ubiquitin ligases. Cell Res (2013) 0.87
The 3M complex maintains microtubule and genome integrity. Mol Cell (2014) 0.87
Targeting Cullin-RING E3 ubiquitin ligases for drug discovery: structure, assembly and small-molecule modulation. Biochem J (2015) 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
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
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
A New Approach To the Diagnosis of Point Mutations in Native DNA Using Graphene Oxide. Acta Naturae (2016) 0.78
Frequency distribution of polymorphisms of CYP2C19, CYP2C9, VKORC1 and SLCO1B1 genes in the Yakut population. Res Pharm Sci (2016) 0.77
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
Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nat Genet (1994) 10.35
Use of population isolates for mapping complex traits. Nat Rev Genet (2000) 4.28
The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet (1999) 2.63
The 3-M syndrome: a heritable low birthweight dwarfism. Birth Defects Orig Artic Ser (1975) 2.53
Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges. Trends Mol Med (2006) 2.39
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
CUL7: A DOC domain-containing cullin selectively binds Skp1.Fbx29 to form an SCF-like complex. Proc Natl Acad Sci U S A (2002) 1.89
Genetics of population isolates. Clin Genet (2002) 1.89
Targeted disruption of p185/Cul7 gene results in abnormal vascular morphogenesis. Proc Natl Acad Sci U S A (2003) 1.78
3-M syndrome: description of six new patients with review of the literature. Clin Dysmorphol (2001) 1.60
Investigating the effects of prehistoric migrations in Siberia: genetic variation and the origins of Yakuts. Hum Genet (2006) 1.51
Further delineation of the 3-M syndrome with review of the literature. Am J Med Genet (1987) 1.43
The 3-M syndrome. J Med Genet (1984) 1.37
A new familial intrauterine growth retardation syndrome the "3-M syndrome". Eur J Pediatr (1976) 1.24
Mulibrey nanism: clinical features and diagnostic criteria. J Med Genet (2004) 1.23
3-M syndrome: a report of three Egyptian cases with review of the literature. Clin Dysmorphol (2006) 1.15
3-M slender-boned nanism. An intrauterine growth retardation syndrome. Am J Dis Child (1981) 1.08
3-M syndrome: a prenatal ultrasonographic diagnosis. Prenat Diagn (2000) 1.02
3-M syndrome in two sisters. J Paediatr Child Health (2002) 0.93
Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome. J Med Genet (1991) 0.92
[The structure and diversiity of hereditary pathology in Sakha Republic (Yakutia)]. Genetika (2004) 0.83
The fat-derived hormone adiponectin reverses insulin resistance associated with both lipoatrophy and obesity. Nat Med (2001) 16.51
Toward a protein-protein interaction map of the budding yeast: A comprehensive system to examine two-hybrid interactions in all possible combinations between the yeast proteins. Proc Natl Acad Sci U S A (2000) 10.98
New procedure for DNA transfection with polycation and dimethyl sulfoxide. Mol Cell Biol (1984) 8.63
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet (1994) 4.36
Regulation of transcription by dimerization of erythroid factor NF-E2 p45 with small Maf proteins. Nature (1994) 4.20
Relationship between rifampin MICs for and rpoB mutations of Mycobacterium tuberculosis strains isolated in Japan. Antimicrob Agents Chemother (1996) 3.82
Bach proteins belong to a novel family of BTB-basic leucine zipper transcription factors that interact with MafK and regulate transcription through the NF-E2 site. Mol Cell Biol (1996) 3.72
Activation of phosphoinositide 3-kinase is required for PDGF-stimulated membrane ruffling. Curr Biol (1994) 3.44
yes-related protooncogene, syn, belongs to the protein-tyrosine kinase family. Proc Natl Acad Sci U S A (1986) 3.19
Insulin and amino-acid regulation of mTOR signaling and kinase activity through the Rheb GTPase. Oncogene (2006) 3.18
Maf nuclear oncoprotein recognizes sequences related to an AP-1 site and forms heterodimers with both Fos and Jun. Mol Cell Biol (1994) 3.15
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet (1996) 3.07
PI 3-kinase: structural and functional analysis of intersubunit interactions. EMBO J (1994) 3.02
Cloning and characterization of a novel erythroid cell-derived CNC family transcription factor heterodimerizing with the small Maf family proteins. Mol Cell Biol (1995) 2.84
Involvement of phosphoinositide 3-kinase in insulin- or IGF-1-induced membrane ruffling. EMBO J (1994) 2.81
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet (2001) 2.79
Regulation of translational effectors by amino acid and mammalian target of rapamycin signaling pathways. Possible involvement of autophagy in cultured hepatoma cells. J Biol Chem (1999) 2.65
Isolation of a possible archetypal JC virus DNA sequence from nonimmunocompromised individuals. J Virol (1990) 2.58
A cytoplasmic clock with the same period as the division cycle in Xenopus eggs. Proc Natl Acad Sci U S A (1980) 2.56
Immunopurified mammalian target of rapamycin phosphorylates and activates p70 S6 kinase alpha in vitro. J Biol Chem (1999) 2.49
Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population. Diabetologia (2007) 2.48
Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding. Cytogenet Cell Genet (1984) 2.47
Identification of a gene conferring resistance to zinc and cadmium ions in the yeast Saccharomyces cerevisiae. Mol Gen Genet (1989) 2.46
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet (1997) 2.40
Endoscopic ultrasound-guided celiac ganglia neurolysis vs. celiac plexus neurolysis: a randomized multicenter trial. Endoscopy (2013) 2.34
Rapid diagnosis of tuberculous meningitis by polymerase chain reaction (PCR). Neurology (1990) 2.21
Motor and sensory cortex in humans: topography studied with chronic subdural stimulation. Neurosurgery (1992) 2.20
The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet (1993) 2.18
Investigation of the mechanism of alcohol-induced bronchial asthma. J Allergy Clin Immunol (1996) 2.16
Inhibition of human immunodeficiency virus in early infected and chronically infected cells by antisense oligodeoxynucleotides and their phosphorothioate analogues. Proc Natl Acad Sci U S A (1989) 2.14
High incidence of urinary JC virus excretion in nonimmunosuppressed older patients. J Infect Dis (1990) 2.13
Characterization of cDNA clones for the human c-yes gene. Mol Cell Biol (1987) 2.11
Synovial fluid-derived mesenchymal stem cells increase after intra-articular ligament injury in humans. Rheumatology (Oxford) (2008) 2.11
Inhibition of acquired immunodeficiency syndrome virus by oligodeoxynucleoside methylphosphonates. Proc Natl Acad Sci U S A (1988) 2.09
Roles of CD4+ and CD8+ cells, and the effect of administration of recombinant murine interferon gamma in listerial infection. J Exp Med (1990) 2.03
Regulation of lens fiber cell differentiation by transcription factor c-Maf. J Biol Chem (1999) 2.00
Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. Neurology (2008) 2.00
Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NF-E2 transcription factor. Mol Cell Biol (1995) 1.97
Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription. Nat Genet (2000) 1.92
Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy. Acta Neuropathol (1987) 1.92
Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nat Genet (1998) 1.91
Two new members of the maf oncogene family, mafK and mafF, encode nuclear b-Zip proteins lacking putative trans-activator domain. Oncogene (1993) 1.91
A mechanism of erythromycin treatment in patients with diffuse panbronchiolitis. Am Rev Respir Dis (1993) 1.91
Mammalian TOR controls one of two kinase pathways acting upon nPKCdelta and nPKCepsilon. J Biol Chem (1999) 1.90
Identification of a photoreceptor cell-specific nuclear receptor. Proc Natl Acad Sci U S A (1999) 1.88
Identification of a site required for DNA replication fork blocking activity in the rRNA gene cluster in Saccharomyces cerevisiae. Mol Gen Genet (1992) 1.87
Suppression of DNA replication via Mos function during meiotic divisions in Xenopus oocytes. EMBO J (1994) 1.84
Beta-synuclein gene alterations in dementia with Lewy bodies. Neurology (2004) 1.82
Molecular cloning of cDNA coding for brain-specific 14-3-3 protein, a protein kinase-dependent activator of tyrosine and tryptophan hydroxylases. Proc Natl Acad Sci U S A (1988) 1.82
The coxsackievirus-adenovirus receptor protein as a cell adhesion molecule in the developing mouse brain. Brain Res Mol Brain Res (2000) 1.80
MafB, a new Maf family transcription activator that can associate with Maf and Fos but not with Jun. Mol Cell Biol (1994) 1.77
Prospective comparative study of ofloxacin or ethambutol for the treatment of pulmonary tuberculosis. Chest (1992) 1.75
Molecular cloning and characterization of a novel p70 S6 kinase, p70 S6 kinase beta containing a proline-rich region. J Biol Chem (1998) 1.74
Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. Am J Hum Genet (1990) 1.71
The p70 S6 kinase integrates nutrient and growth signals to control translational capacity. Prog Mol Subcell Biol (2001) 1.71
Cholesteryl-conjugated oligonucleotides: synthesis, properties, and activity as inhibitors of replication of human immunodeficiency virus in cell culture. Proc Natl Acad Sci U S A (1989) 1.71
Expression of coxsackievirus and adenovirus receptor in hearts of rats with experimental autoimmune myocarditis. Circ Res (2000) 1.70
A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum Mol Genet (1999) 1.69
Brain-derived neurotrophic factor enhances neuronal translation by activating multiple initiation processes: comparison with the effects of insulin. J Biol Chem (2001) 1.69
Plasma (1-->3)-beta-D-glucan and fungal antigenemia in patients with candidemia, aspergillosis, and cryptococcosis. J Clin Microbiol (1995) 1.63
Search for supersymmetry using final states with one lepton, jets, and missing transverse momentum with the ATLAS detector in √s=7 TeV pp collisions. Phys Rev Lett (2011) 1.60
Signet ring cell carcinoma in hyperplastic polyp. Scand J Gastroenterol (1995) 1.60
Mice overexpressing rat heat shock protein 70 are protected against cerebral infarction. Ann Neurol (2000) 1.55
Loss of constitutional heterozygosity in colon carcinoma from patients with familial polyposis coli. Nature (1988) 1.54
Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy. Arch Neurol (1999) 1.53
Intragenic Tsc2 somatic mutations as Knudson's second hit in spontaneous and chemically induced renal carcinomas in the Eker rat model. Jpn J Cancer Res (1997) 1.52
Metal nanotubule membranes with electrochemically switchable ion-transport selectivity. Science (1995) 1.50
A genetic variation of the transcription factor 7-like 2 gene is associated with risk of type 2 diabetes in the Japanese population. Diabetologia (2007) 1.50
Effect of continuous positive airway pressure on intrathoracic and left ventricular transmural pressures in patients with congestive heart failure. Circulation (1995) 1.49
Detection of endotoxin in plasma and ascitic fluid of patients with cirrhosis: its clinical significance. Gastroenterology (1977) 1.49
Structure, expression, and chromosomal location of the human c-fgr gene. Mol Cell Biol (1986) 1.47
Activity and expression of murine small Maf family protein MafK. J Biol Chem (1995) 1.46
Location of the c-yes gene on the human chromosome and its expression in various tissues. Science (1985) 1.46
Lysophosphatidic acid positively regulates the fluid flow-induced local Ca(2+) influx in bovine aortic endothelial cells. Circ Res (2001) 1.46
Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct. J Clin Invest (1994) 1.45
Structure-function analysis of the maf oncogene product, a member of the b-Zip protein family. J Virol (1993) 1.43
Keratin attenuates tumor necrosis factor-induced cytotoxicity through association with TRADD. J Cell Biol (2001) 1.42
Nucleotide sequences of the sporulation gene spo0A and its mutant genes of Bacillus subtilis. Proc Natl Acad Sci U S A (1985) 1.42
The value of multichannel MEG and EEG in the presurgical evaluation of 70 epilepsy patients. Epilepsy Res (2006) 1.42
Observation of a centrality-dependent dijet asymmetry in lead-lead collisions at sqrt[S(NN)] =2.76 TeV with the ATLAS detector at the LHC. Phys Rev Lett (2010) 1.41
A novel adenosine triphosphatase isolated from RNA polymerase preparations of Escherichia coli. I. Copurification and separation. J Biochem (1976) 1.40
Observation of B(0)(s)-->Psi(2S)Phi and measurement of the ratio of branching fractions Beta(B(0)(s)-->Psi(2S)Phi)/Beta(B(0)(s)-->J/PsiPhi). Phys Rev Lett (2006) 1.40
Measurement of dijet azimuthal decorrelations in pp collisions at sqrt(s)=7 TeV. Phys Rev Lett (2011) 1.39
Microscopic polyangiitis associated with sinobronchial syndrome. Intern Med (2001) 1.39
Anisotropy and corotation of galactic cosmic rays. Science (2006) 1.39
Permanent Genetic Resources added to Molecular Ecology Resources Database 1 August 2009-30 September 2009. Mol Ecol Resour (2010) 1.39
Relationships between the carcinogenic and mutagenic or DNA-modifying effects of nitrofuran derivatives, including 2-(2-furyl)-3-(5-nitro-2-furyl)acrylamide, a food additive. Cancer Res (1974) 1.38
Insulin-dependent formation of a complex containing an 85-kDa subunit of phosphatidylinositol 3-kinase and tyrosine-phosphorylated insulin receptor substrate 1. J Biol Chem (1992) 1.38
Interleukin 1 beta, tumor necrosis factor alpha, and interleukin 8 in bronchoalveolar lavage fluid of patients with diffuse panbronchiolitis: a potential mechanism of macrolide therapy. Respiration (1996) 1.37
Vagal hepatopancreatic reflex effect evoked by intraportal appearance of tGLP-1. Am J Physiol (1996) 1.36