Published in Am J Med Genet on February 01, 2002
An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science (2005) 3.61
Retracted Chromosome 21-derived microRNAs provide an etiological basis for aberrant protein expression in human Down syndrome brains. J Biol Chem (2009) 1.53
2001 William Allan Award Address. From Down syndrome to the "human" in "human genetics". Am J Hum Genet (2001) 1.48
Understanding the basis for Down syndrome phenotypes. PLoS Genet (2006) 1.41
Highly penetrant myeloproliferative disease in the Ts65Dn mouse model of Down syndrome. Blood (2007) 1.33
Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice. EMBO Mol Med (2009) 1.30
Down syndrome: searching for the genetic culprits. Dis Model Mech (2011) 1.28
A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome. Hum Mol Genet (2009) 1.20
The morphology of the mouse masticatory musculature. J Anat (2013) 1.09
The power of comparative and developmental studies for mouse models of Down syndrome. Mamm Genome (2007) 1.07
GABAergic inhibition in visual cortical plasticity. Front Cell Neurosci (2010) 1.05
Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients. Hum Mol Genet (2011) 1.04
A neural crest deficit in Down syndrome mice is associated with deficient mitotic response to Sonic hedgehog. Mech Dev (2008) 1.01
Oxidative Stress and Down Syndrome: A Route toward Alzheimer-Like Dementia. Curr Gerontol Geriatr Res (2011) 0.98
Comparative genomic sequence analysis of the human chromosome 21 Down syndrome critical region. Genome Res (2002) 0.94
Functional transcriptome analysis of the postnatal brain of the Ts1Cje mouse model for Down syndrome reveals global disruption of interferon-related molecular networks. BMC Genomics (2014) 0.93
Abnormal expression of the G-protein-activated inwardly rectifying potassium channel 2 (GIRK2) in hippocampus, frontal cortex, and substantia nigra of Ts65Dn mouse: a model of Down syndrome. J Comp Neurol (2006) 0.92
Gene network disruptions and neurogenesis defects in the adult Ts1Cje mouse model of Down syndrome. PLoS One (2010) 0.92
Gene expression profiling in a mouse model identifies fetal liver- and placenta-derived potential biomarkers for Down Syndrome screening. PLoS One (2011) 0.91
Negative feedback Inhibition of NFATc1 by DYRK1A regulates bone homeostasis. J Biol Chem (2009) 0.89
Disruption of bone development and homeostasis by trisomy in Ts65Dn Down syndrome mice. Bone (2010) 0.89
A Sonic hedgehog (Shh) response deficit in trisomic cells may be a common denominator for multiple features of Down syndrome. Prog Brain Res (2012) 0.87
Dynamic morphological changes in the skulls of mice mimicking human Apert syndrome resulting from gain-of-function mutation of FGFR2 (P253R). J Anat (2010) 0.87
Unraveling the complexity of neurodegeneration in brains of subjects with Down syndrome: insights from proteomics. Proteomics Clin Appl (2014) 0.86
Overlapping trisomies for human chromosome 21 orthologs produce similar effects on skull and brain morphology of Dp(16)1Yey and Ts65Dn mice. Am J Med Genet A (2014) 0.83
Quantitative proteomics characterization of a mouse embryonic stem cell model of Down syndrome. Mol Cell Proteomics (2008) 0.82
Normal protein composition of synapses in Ts65Dn mice: a mouse model of Down syndrome. J Neurochem (2009) 0.82
Dentofacial and cranial changes in down syndrome. Osong Public Health Res Perspect (2014) 0.81
The mouse model of Down syndrome Ts65Dn presents visual deficits as assessed by pattern visual evoked potentials. Invest Ophthalmol Vis Sci (2010) 0.81
Semi-automatic classification of skeletal morphology in genetically altered mice using flat-panel volume computed tomography. PLoS Genet (2007) 0.81
Chronic up-regulation of sonic hedgehog has little effect on postnatal craniofacial morphology of euploid and trisomic mice. Dev Dyn (2015) 0.80
Cardiovascular development and survival during gestation in the Ts65Dn mouse model for Down syndrome. Anat Rec (Hoboken) (2010) 0.79
Stem and progenitor cell dysfunction in human trisomies. EMBO Rep (2014) 0.79
Trisomic and allelic differences influence phenotypic variability during development of Down syndrome mice. Genetics (2011) 0.78
Subtle Morphological Changes in the Mandible of Tabby Mice Revealed by Micro-CT Imaging and Elliptical Fourier Quantification. Front Physiol (2011) 0.78
A Critical Evaluation of the Down Syndrome Diagnosis for LB1, Type Specimen of Homo floresiensis. PLoS One (2016) 0.76
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
The Collaborative Cross, a community resource for the genetic analysis of complex traits. Nat Genet (2004) 9.37
Natural variation in human membrane transporter genes reveals evolutionary and functional constraints. Proc Natl Acad Sci U S A (2003) 5.77
Life-long reduction in MnSOD activity results in increased DNA damage and higher incidence of cancer but does not accelerate aging. Physiol Genomics (2003) 3.84
Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic neuron degeneration. Neuron (2006) 3.51
CuZnSOD deficiency leads to persistent and widespread oxidative damage and hepatocarcinogenesis later in life. Oncogene (2005) 3.17
Absence of CuZn superoxide dismutase leads to elevated oxidative stress and acceleration of age-dependent skeletal muscle atrophy. Free Radic Biol Med (2006) 3.04
Slit1 and Slit2 cooperate to prevent premature midline crossing of retinal axons in the mouse visual system. Neuron (2002) 2.77
Hippocampal long-term potentiation suppressed by increased inhibition in the Ts65Dn mouse, a genetic model of Down syndrome. J Neurosci (2004) 2.73
Trisomy represses Apc(Min)-mediated tumours in mouse models of Down's syndrome. Nature (2008) 2.71
Validation of microsatellite markers for use in genotyping polyclonal Plasmodium falciparum infections. Am J Trop Med Hyg (2006) 2.43
Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome. Genome Res (2004) 2.29
The overexpression of major antioxidant enzymes does not extend the lifespan of mice. Aging Cell (2008) 2.25
The promise of geometric morphometrics. Am J Phys Anthropol (2002) 2.25
Overexpression of Mn superoxide dismutase does not increase life span in mice. J Gerontol A Biol Sci Med Sci (2009) 1.98
Protection from doxorubicin-induced cardiac toxicity in mice with a null allele of carbonyl reductase 1. Cancer Res (2003) 1.93
Synaptic structural abnormalities in the Ts65Dn mouse model of Down Syndrome. J Comp Neurol (2004) 1.92
Global disruption of the cerebellar transcriptome in a Down syndrome mouse model. Hum Mol Genet (2003) 1.80
Sequence diversity and haplotype structure in the human ABCB1 (MDR1, multidrug resistance transporter) gene. Pharmacogenetics (2003) 1.79
Urea-selective concentrating defect in transgenic mice lacking urea transporter UT-B. J Biol Chem (2002) 1.79
Hedgehog agonist therapy corrects structural and cognitive deficits in a Down syndrome mouse model. Sci Transl Med (2013) 1.70
Genetic modifiers of the phenotype of mice deficient in mitochondrial superoxide dismutase. Hum Mol Genet (2006) 1.68
Alterations in mitochondrial function, hydrogen peroxide release and oxidative damage in mouse hind-limb skeletal muscle during aging. Mech Ageing Dev (2006) 1.67
App gene dosage modulates endosomal abnormalities of Alzheimer's disease in a segmental trisomy 16 mouse model of down syndrome. J Neurosci (2003) 1.59
Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome. Hum Mol Genet (2004) 1.57
Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population. Circ Cardiovasc Genet (2012) 1.57
Trisomy for the Down syndrome 'critical region' is necessary but not sufficient for brain phenotypes of trisomic mice. Hum Mol Genet (2007) 1.57
The in vivo gene expression signature of oxidative stress. Physiol Genomics (2008) 1.55
Genes contributing to prion pathogenesis. J Gen Virol (2008) 1.51
A mechanism-based antioxidant approach for the reduction of skin carcinogenesis. Cancer Res (2005) 1.48
Defective cerebellar response to mitogenic Hedgehog signaling in Down [corrected] syndrome mice. Proc Natl Acad Sci U S A (2006) 1.47
The "Down syndrome critical region" is sufficient in the mouse model to confer behavioral, neurophysiological, and synaptic phenotypes characteristic of Down syndrome. J Neurosci (2009) 1.46
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. Am J Hum Genet (2008) 1.45
Iron-responsive degradation of iron-regulatory protein 1 does not require the Fe-S cluster. EMBO J (2006) 1.43
Understanding the basis for Down syndrome phenotypes. PLoS Genet (2006) 1.41
Interaction of methotrexate with organic-anion transporting polypeptide 1A2 and its genetic variants. J Pharmacol Exp Ther (2006) 1.38
Synaptic and cognitive abnormalities in mouse models of Down syndrome: exploring genotype-phenotype relationships. J Comp Neurol (2007) 1.38
Genetic determinants influencing the response to injury, inflammation, and sepsis. Shock (2005) 1.35
Hippocampal hypocellularity in the Ts65Dn mouse originates early in development. Brain Res (2006) 1.31
Multiple deficiencies in antioxidant enzymes in mice result in a compound increase in sensitivity to oxidative stress. Free Radic Biol Med (2004) 1.30
Trisomy 21 and early brain development. Trends Neurosci (2011) 1.28
The challenge of Down syndrome. Trends Mol Med (2006) 1.28
A biologically effective fullerene (C60) derivative with superoxide dismutase mimetic properties. Free Radic Biol Med (2004) 1.24
Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome. Hum Mol Genet (2006) 1.20
Manganese superoxide dismutase deficiency enhances cell turnover via tumor promoter-induced alterations in AP-1 and p53-mediated pathways in a skin cancer model. Oncogene (2002) 1.19
Development and validation of the Arizona Cognitive Test Battery for Down syndrome. J Neurodev Disord (2010) 1.15
Abnormal synaptic plasticity in the Ts1Cje segmental trisomy 16 mouse model of Down syndrome. Neuropharmacology (2005) 1.15
The human organic anion transporter 3 (OAT3; SLC22A8): genetic variation and functional genomics. Am J Physiol Renal Physiol (2005) 1.15
Down syndrome: from understanding the neurobiology to therapy. J Neurosci (2010) 1.13
Genetic contribution to the septic response in a mouse model. Shock (2002) 1.08
Perinatal loss of Ts65Dn Down syndrome mice. Genetics (2005) 1.05
Increased sensitivity of homozygous Sod2 mutant mice to oxygen toxicity. Free Radic Biol Med (2002) 1.05
Promoter methylation of TSLC1 and tumor suppression by its gene product in human prostate cancer. Jpn J Cancer Res (2002) 1.05
The use of mouse models to understand and improve cognitive deficits in Down syndrome. Dis Model Mech (2011) 1.05
Analysis of four DLX homeobox genes in autistic probands. BMC Genet (2005) 1.04
Gene expression variation in Down's syndrome mice allows prioritization of candidate genes. Genome Biol (2007) 1.04
Sequential targeted deficiency of SP-A and -D leads to progressive alveolar lipoproteinosis and emphysema. Am J Physiol Lung Cell Mol Physiol (2002) 1.04
A quantitative trait loci analysis to map genes involved in lipopolysaccharide-induced inflammatory response: identification of macrophage scavenger receptor 1 as a candidate gene. J Immunol (2006) 1.02
Functional effects of protein sequence polymorphisms in the organic cation/ergothioneine transporter OCTN1 (SLC22A4). Pharmacogenet Genomics (2007) 1.02
Effects of aneuploidy on skull growth in a mouse model of Down syndrome. J Anat (2007) 1.02
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. Am J Hum Genet (2012) 1.01
A neural crest deficit in Down syndrome mice is associated with deficient mitotic response to Sonic hedgehog. Mech Dev (2008) 1.01
Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). Mol Pharmacol (2006) 1.00
A flexible estimating equations approach for mapping function-valued traits. Genetics (2011) 1.00
Functional and genetic diversity in the concentrative nucleoside transporter, CNT1, in human populations. Mol Pharmacol (2004) 0.99
Enlarged brain ventricles and impaired neurogenesis in the Ts1Cje and Ts2Cje mouse models of Down syndrome. Cereb Cortex (2009) 0.99
PCR prescreen for genotyping the Ts65Dn mouse model of Down syndrome. Biotechniques (2010) 0.98
Functional analysis of polymorphisms in the organic anion transporter, SLC22A6 (OAT1). Pharmacogenet Genomics (2005) 0.98
Large-scale SNP genotyping with canine buccal swab DNA. J Hered (2007) 0.98
Identification and characterization of a new Down syndrome model, Ts[Rb(12.1716)]2Cje, resulting from a spontaneous Robertsonian fusion between T(171)65Dn and mouse chromosome 12. Mamm Genome (2005) 0.96
Comparative genomic sequence analysis of the human chromosome 21 Down syndrome critical region. Genome Res (2002) 0.94
Tumor suppressor in lung cancer 1 (TSLC1) alters tumorigenic growth properties and gene expression. Mol Cancer (2005) 0.94
Enhanced expression of mitochondrial superoxide dismutase leads to prolonged in vivo cell cycle progression and up-regulation of mitochondrial thioredoxin. Free Radic Biol Med (2010) 0.94
Increased survival following tumorigenesis in Ts65Dn mice that model Down syndrome. Cancer Res (2011) 0.93
Differential effects of trisomy on brain shape and volume in related aneuploid mouse models. Am J Med Genet A (2007) 0.93
Developmental aspects of the upper airway: report from an NHLBI Workshop, March 5-6, 2009. Proc Am Thorac Soc (2009) 0.92
2010 Victor A. McKusick Leadership Award introduction and address. Am J Hum Genet (2011) 0.92
Effect of SOD1 overexpression on age- and noise-related hearing loss. Free Radic Biol Med (2003) 0.92
Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12). Hum Genet (2003) 0.91
The effects of piracetam on cognitive performance in a mouse model of Down's syndrome. Physiol Behav (2002) 0.91
Prolonged ethanol administration depletes mitochondrial DNA in MnSOD-overexpressing transgenic mice, but not in their wild type littermates. Toxicol Appl Pharmacol (2008) 0.90
Transgenic and mutant mice for oxygen free radical studies. Methods Enzymol (2002) 0.90
A Sonic hedgehog (Shh) response deficit in trisomic cells may be a common denominator for multiple features of Down syndrome. Prog Brain Res (2012) 0.87
Genetic analysis and functional characterization of polymorphisms in the human concentrative nucleoside transporter, CNT2. Pharmacogenet Genomics (2005) 0.86
Microstructure of trabecular bone in a mouse model for Down syndrome. Anat Rec (Hoboken) (2007) 0.85
Down syndrome: national conference on patient registries, research databases, and biobanks. Mol Genet Metab (2011) 0.85
Effect of the reduction of superoxide dismutase 1 and 2 or treatment with alpha-tocopherol on tumorigenesis in Atm-deficient mice. Free Radic Biol Med (2006) 0.84
Increased lipid peroxidation in Down's syndrome mouse models. J Neurochem (2009) 0.84
Making education effective and fun: stations-based approach to teaching radiology and anatomy to third-year medical students. Acad Radiol (2013) 0.83
Complex contributions of Ets2 to craniofacial and thymus phenotypes of trisomic "Down syndrome" mice. Am J Med Genet A (2009) 0.82
IL-10 plasma levels are elevated after LPS injection in splenectomized A/J mice. J Surg Res (2005) 0.82
Size does not always matter: Ts65Dn Down syndrome mice show cerebellum-dependent motor learning deficits that cannot be rescued by postnatal SAG treatment. J Neurosci (2013) 0.81
Protection from lethal endotoxic shock after testosterone depletion is linked to chromosome X. Shock (2005) 0.81
Genetic variants of human organic anion transporter 4 demonstrate altered transport of endogenous substrates. Am J Physiol Renal Physiol (2010) 0.81
Selective neuronal vulnerability and inadequate stress response in superoxide dismutase mutant mice. Free Radic Biol Med (2005) 0.81
Down's syndrome: critical genes in a critical region. Nature (2006) 0.80
Increased male reproductive success in Ts65Dn "Down syndrome" mice. Mamm Genome (2010) 0.80
Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects. AIMS Genet (2014) 0.80