Published in Hum Mol Genet on May 28, 2009
Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet (2012) 3.33
cis-regulatory mutations are a genetic cause of human limb malformations. Dev Dyn (2011) 1.28
Loss of Dact1 disrupts planar cell polarity signaling by altering dishevelled activity and leads to posterior malformation in mice. J Biol Chem (2010) 1.17
Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS. Eur J Hum Genet (2010) 1.03
A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb. Hum Mutat (2012) 0.90
Fstl1 antagonizes BMP signaling and regulates ureter development. PLoS One (2012) 0.89
Regulation of DNA Topoisomerase IIbeta through RNA-dependent association with heterogeneous nuclear ribonucleoprotein U (hnRNP U). J Biol Chem (2010) 0.85
Alterations to the remote control of Shh gene expression cause congenital abnormalities. Philos Trans R Soc Lond B Biol Sci (2013) 0.81
SAF-A has a role in transcriptional regulation of Oct4 in ES cells through promoter binding. Cell Reprogram (2011) 0.80
SAF-A forms a complex with BRG1 and both components are required for RNA polymerase II mediated transcription. PLoS One (2011) 0.80
A novel long intergenic noncoding RNA indispensable for the cleavage of mouse two-cell embryos. EMBO Rep (2016) 0.77
ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers. J Hum Genet (2014) 0.75
Epigenetic characteristics of the mitotic chromosome in 1D and 3D. Crit Rev Biochem Mol Biol (2017) 0.75
MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol (2010) 26.41
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet (2009) 9.45
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet (2012) 6.15
Nuclear PKM2 regulates β-catenin transactivation upon EGFR activation. Nature (2011) 5.49
Selective elimination of glutamatergic synapses on striatopallidal neurons in Parkinson disease models. Nat Neurosci (2006) 4.98
D1 and D2 dopamine-receptor modulation of striatal glutamatergic signaling in striatal medium spiny neurons. Trends Neurosci (2007) 4.93
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet (2012) 4.13
p53 regulates biosynthesis through direct inactivation of glucose-6-phosphate dehydrogenase. Nat Cell Biol (2011) 3.70
Sclerostin mediates bone response to mechanical unloading through antagonizing Wnt/beta-catenin signaling. J Bone Miner Res (2009) 3.69
Dopaminergic control of corticostriatal long-term synaptic depression in medium spiny neurons is mediated by cholinergic interneurons. Neuron (2006) 3.58
Extending rare-variant testing strategies: analysis of noncoding sequence and imputed genotypes. Am J Hum Genet (2010) 3.47
Sugar-sweetened soft drinks, diet soft drinks, and serum uric acid level: the Third National Health and Nutrition Examination Survey. Arthritis Rheum (2008) 2.91
Synthetic polymer coatings for long-term growth of human embryonic stem cells. Nat Biotechnol (2010) 2.89
Genome-wide association analysis identifies three psoriasis susceptibility loci. Nat Genet (2010) 2.76
Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. Nat Genet (2010) 2.66
Reduced cardiac hypertrophy in toll-like receptor 4-deficient mice following pressure overload. Cardiovasc Res (2005) 2.24
Liver-resident NK cells confer adaptive immunity in skin-contact inflammation. J Clin Invest (2013) 2.21
Re-emergence of striatal cholinergic interneurons in movement disorders. Trends Neurosci (2007) 2.19
Global gene expression analysis reveals evidence for decreased lipid biosynthesis and increased innate immunity in uninvolved psoriatic skin. J Invest Dermatol (2009) 2.06
Macrophages are necessary for maximal nuclear factor-kappa B activation in response to endotoxin. Am J Respir Cell Mol Biol (2002) 2.05
Pathologic changes of Achilles tendon in leptin-deficient mice. Rheumatol Int (2009) 1.98
Smoking and Parkinson's disease: using parental smoking as a proxy to explore causality. Am J Epidemiol (2009) 1.87
Restless legs syndrome and hypertension in middle-aged women. Hypertension (2011) 1.87
Structural basis for molecular recognition at serotonin receptors. Science (2013) 1.86
Obesity, diabetes, and risk of Parkinson's disease. Mov Disord (2011) 1.85
Protection against myocardial ischemia/reperfusion injury in TLR4-deficient mice is mediated through a phosphoinositide 3-kinase-dependent mechanism. J Immunol (2007) 1.75
The diversity of LTR retrotransposons. Genome Biol (2004) 1.74
Involvement of reductive stress in the cardiomyopathy in transgenic mice with cardiac-specific overexpression of heat shock protein 27. Hypertension (2010) 1.73
Generation of genetically modified mice by oocyte injection of androgenetic haploid embryonic stem cells. Cell (2012) 1.72
Myosin light chain kinase is central to smooth muscle contraction and required for gastrointestinal motility in mice. Gastroenterology (2008) 1.72
Modulating Toll-like receptor mediated signaling by (1-->3)-beta-D-glucan rapidly induces cardioprotection. Cardiovasc Res (2004) 1.69
Nonviral gene delivery: principle, limitations, and recent progress. AAPS J (2009) 1.69
The microbial communities in male first catch urine are highly similar to those in paired urethral swab specimens. PLoS One (2011) 1.64
Toll-like receptor 3 plays a central role in cardiac dysfunction during polymicrobial sepsis. Crit Care Med (2012) 1.61
Assessment of the psoriatic transcriptome in a large sample: additional regulated genes and comparisons with in vitro models. J Invest Dermatol (2010) 1.61
Phosphatized polar lobe-forming embryos from the Precambrian of southwest China. Science (2006) 1.61
Identification of a lysosomal pathway that modulates glucocorticoid signaling and the inflammatory response. Sci Signal (2011) 1.58
Leucine deprivation increases hepatic insulin sensitivity via GCN2/mTOR/S6K1 and AMPK pathways. Diabetes (2011) 1.55
NF-kappaB activation is required for the development of cardiac hypertrophy in vivo. Am J Physiol Heart Circ Physiol (2004) 1.54
Temporal relationship of peroxynitrite-induced oxidative damage, calpain-mediated cytoskeletal degradation and neurodegeneration after traumatic brain injury. Exp Neurol (2007) 1.53
A crucial role for RACK1 in the regulation of glucose-stimulated IRE1alpha activation in pancreatic beta cells. Sci Signal (2010) 1.52
Phosphatase of regenerating liver-3 promotes motility and metastasis of mouse melanoma cells. Am J Pathol (2004) 1.51
Diversity of bacteria at healthy human conjunctiva. Invest Ophthalmol Vis Sci (2011) 1.50
Prospective study of restless legs syndrome and risk of erectile dysfunction. Am J Epidemiol (2013) 1.47
FAK phosphorylation by ERK primes ras-induced tyrosine dephosphorylation of FAK mediated by PIN1 and PTP-PEST. Mol Cell (2009) 1.47
iSNO-PseAAC: predict cysteine S-nitrosylation sites in proteins by incorporating position specific amino acid propensity into pseudo amino acid composition. PLoS One (2013) 1.45
Meta-analysis of the relationship between Parkinson disease and melanoma. Neurology (2011) 1.45
Inhibition of autophagy ameliorates acute lung injury caused by avian influenza A H5N1 infection. Sci Signal (2012) 1.45
Ideal cardiovascular health metrics and the risks of ischemic and intracerebral hemorrhagic stroke. Stroke (2013) 1.45
Neuronal nitric oxide synthase supports Renin release during sodium restriction through inhibition of phosphodiesterase 3. Am J Hypertens (2010) 1.41
Restless legs syndrome status as a predictor for lower physical function. Neurology (2014) 1.41
Fecal calprotectin in predicting relapse of inflammatory bowel diseases: a meta-analysis of prospective studies. Inflamm Bowel Dis (2012) 1.41
Removal of heavy metals from aqueous solution by carbon nanotubes: adsorption equilibrium and kinetics. J Environ Sci (China) (2004) 1.41
TLR2 ligands induce cardioprotection against ischaemia/reperfusion injury through a PI3K/Akt-dependent mechanism. Cardiovasc Res (2010) 1.40
rSac3, a novel Sac domain phosphoinositide phosphatase, promotes neurite outgrowth in PC12 cells. Cell Res (2007) 1.39
Lipopolysaccharides can protect mesenchymal stem cells (MSCs) from oxidative stress-induced apoptosis and enhance proliferation of MSCs via Toll-like receptor(TLR)-4 and PI3K/Akt. Cell Biol Int (2009) 1.37
Structure and function of the Salmonella Typhi chimaeric A(2)B(5) typhoid toxin. Nature (2013) 1.37
Smad4 is required for maintaining normal murine postnatal bone homeostasis. J Cell Sci (2007) 1.37
A prospective study of sleep duration and pneumonia risk in women. Sleep (2012) 1.36
An insertion/deletion polymorphism at miRNA-122-binding site in the interleukin-1alpha 3' untranslated region confers risk for hepatocellular carcinoma. Carcinogenesis (2009) 1.36
Follistatin-like 1 (Fstl1) is a bone morphogenetic protein (BMP) 4 signaling antagonist in controlling mouse lung development. Proc Natl Acad Sci U S A (2011) 1.34
A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. Nat Genet (2011) 1.33
Arsenic-stimulated liver sinusoidal capillarization in mice requires NADPH oxidase-generated superoxide. J Clin Invest (2008) 1.33
Vitamin C intake and the risk of gout in men: a prospective study. Arch Intern Med (2009) 1.33
Abrogation of hepatic ATP-citrate lyase protects against fatty liver and ameliorates hyperglycemia in leptin receptor-deficient mice. Hepatology (2009) 1.31
Telomere length and risk of Parkinson's disease. Mov Disord (2008) 1.31
Systemic bisperoxovanadium activates Akt/mTOR, reduces autophagy, and enhances recovery following cervical spinal cord injury. PLoS One (2012) 1.30
Prospective study of restless legs syndrome and coronary heart disease among women. Circulation (2012) 1.29
A spermatogenesis-related gene expression profile in human spermatozoa and its potential clinical applications. J Mol Med (Berl) (2004) 1.28
Premarital sexual activities among students in a university in Beijing, China. Sex Transm Dis (2002) 1.28
The Arabidopsis purple acid phosphatase AtPAP10 is predominantly associated with the root surface and plays an important role in plant tolerance to phosphate limitation. Plant Physiol (2011) 1.26
Accelerated liver fibrosis in hepatitis B virus transgenic mice: involvement of natural killer T cells. Hepatology (2010) 1.24
JAK1-STAT1-STAT3, a key pathway promoting proliferation and preventing premature differentiation of myoblasts. J Cell Biol (2007) 1.22
TLR2 ligands attenuate cardiac dysfunction in polymicrobial sepsis via a phosphoinositide 3-kinase-dependent mechanism. Am J Physiol Heart Circ Physiol (2010) 1.22
A study of dietary patterns in the Mexican-American population and their association with obesity. J Am Diet Assoc (2007) 1.21
Nonoverlapping sets of synapses drive on responses and off responses in auditory cortex. Neuron (2010) 1.21
Characterization and expression of a human KCTD1 gene containing the BTB domain, which mediates transcriptional repression and homomeric interactions. DNA Cell Biol (2008) 1.21
Association between insomnia symptoms and mortality: a prospective study of U.S. men. Circulation (2013) 1.20
Essential role of Smad4 in maintaining cardiomyocyte proliferation during murine embryonic heart development. Dev Biol (2007) 1.20
A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations. Nat Genet (2013) 1.19
Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases. Invest Ophthalmol Vis Sci (2013) 1.19
Early second-trimester serum miRNA profiling predicts gestational diabetes mellitus. PLoS One (2011) 1.18
Fibroblast growth factor 13 is a microtubule-stabilizing protein regulating neuronal polarization and migration. Cell (2012) 1.17
PKA phosphorylation couples hepatic inositol-requiring enzyme 1alpha to glucagon signaling in glucose metabolism. Proc Natl Acad Sci U S A (2011) 1.17
Attenuation of cardiac hypertrophy by inhibiting both mTOR and NFkappaB activation in vivo. Free Radic Biol Med (2005) 1.17
Rapid evolution of mammalian X-linked testis microRNAs. BMC Genomics (2009) 1.17
Loss of Dact1 disrupts planar cell polarity signaling by altering dishevelled activity and leads to posterior malformation in mice. J Biol Chem (2010) 1.17
Gout and the risk of Parkinson's disease: a cohort study. Arthritis Rheum (2008) 1.16
Smoking and risk of skin cancer: a prospective analysis and a meta-analysis. Int J Epidemiol (2012) 1.16
Predicting outcomes after traumatic brain injury: the development and validation of prognostic models based on admission characteristics. J Trauma Acute Care Surg (2012) 1.15
Neuroprotection against traumatic brain injury by a peptide derived from the collapsin response mediator protein 2 (CRMP2). J Biol Chem (2011) 1.15
Graphene oxide induces toll-like receptor 4 (TLR4)-dependent necrosis in macrophages. ACS Nano (2013) 1.14
Integrin-mediated targeting of drug delivery to irradiated tumor blood vessels. Cancer Cell (2003) 1.14
Glucan phosphate attenuates cardiac dysfunction and inhibits cardiac MIF expression and apoptosis in septic mice. Am J Physiol Heart Circ Physiol (2006) 1.14
Myosin light chain kinase is necessary for tonic airway smooth muscle contraction. J Biol Chem (2009) 1.14
Vitamin D deficiency is associated with decreased lung function in Chinese adults with asthma. Respiration (2010) 1.13
Lipopolysaccharide preconditioning enhances the efficacy of mesenchymal stem cells transplantation in a rat model of acute myocardial infarction. J Biomed Sci (2009) 1.13
Proteomic analysis of proteins involved in spermiogenesis in mouse. J Proteome Res (2010) 1.13
Growth of single-crystalline Ni and Co nanowires via electrochemical deposition and their magnetic properties. J Phys Chem B (2005) 1.13