Published in Eur J Hum Genet on November 28, 2007
CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. Am J Hum Genet (2009) 1.78
Instability and chromatin structure of expanded trinucleotide repeats. Trends Genet (2009) 1.36
PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats. PLoS One (2011) 1.12
Repeat instability during DNA repair: Insights from model systems. Crit Rev Biochem Mol Biol (2015) 0.97
Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content. PLoS One (2011) 0.86
Molecular characterization of a novel ring 6 chromosome using next generation sequencing. Mol Cytogenet (2016) 0.78
Genetically modified rodent models of SCA17. J Neurosci Res (2016) 0.77
RNA toxicity and foci formation in microsatellite expansion diseases. Curr Opin Genet Dev (2017) 0.75
Ethidium Bromide Modifies The Agarose Electrophoretic Mobility of CAG•CTG Alternative DNA Structures Generated by PCR. Front Cell Neurosci (2017) 0.75
Cognitive Changes in the Spinocerebellar Ataxias Due to Expanded Polyglutamine Tracts: A Survey of the Literature. Brain Sci (2017) 0.75
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA (2006) 4.26
Regulation of polarized extension and planar cell polarity in the cochlea by the vertebrate PCP pathway. Nat Genet (2005) 2.36
Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet (2006) 2.34
Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am J Hum Genet (2011) 2.19
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep (2011) 2.17
Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet (2004) 1.98
Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet (2009) 1.96
Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death. Neuron (2002) 1.95
Human branch point consensus sequence is yUnAy. Nucleic Acids Res (2008) 1.94
Unpaired structures in SCA10 (ATTCT)n.(AGAAT)n repeats. J Mol Biol (2003) 1.87
Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome. Nat Genet (2013) 1.79
Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy. Neuron (2012) 1.78
MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1. Hum Mol Genet (2006) 1.77
Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. PLoS Genet (2010) 1.76
Interleukin-12 p40 gene (IL12B) 3'-untranslated region polymorphism is associated with susceptibility to atopic dermatitis and psoriasis vulgaris. J Dermatol Sci (2002) 1.75
Role of IL-12B promoter polymorphism in Adamantiades-Behcet's disease susceptibility: An involvement of Th1 immunoreactivity against Streptococcus Sanguinis antigen. J Invest Dermatol (2006) 1.59
Minocycline in Huntington's disease: a pilot study. Mov Disord (2004) 1.59
Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice. Biochem Biophys Res Commun (2003) 1.55
Cochlear gap junctions coassembled from Cx26 and 30 show faster intercellular Ca2+ signaling than homomeric counterparts. Am J Physiol Cell Physiol (2005) 1.49
Expression of Islet1 marks the sensory and neuronal lineages in the mammalian inner ear. J Comp Neurol (2004) 1.45
Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness. Proc Natl Acad Sci U S A (2007) 1.44
Olfactory impairment in familial ataxias. J Neurol Neurosurg Psychiatry (2012) 1.44
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. Eur J Hum Genet (2005) 1.44
Atoh1 directs the formation of sensory mosaics and induces cell proliferation in the postnatal mammalian cochlea in vivo. J Neurosci (2012) 1.43
Do CTG expansions at the SCA8 locus cause ataxia? Ann Neurol (2003) 1.43
A frameshift mutation of the ED1 gene in sibling cases with X-linked hypohidrotic ectodermal dysplasia. Dermatology (2003) 1.42
Multicentric Castleman's disease associated with inherited epidermolysis bullosa. J Dermatol (2003) 1.41
Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study. Am J Hum Genet (2012) 1.41
Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions. Proc Natl Acad Sci U S A (2005) 1.39
A novel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels. Laryngoscope (2006) 1.36
Spinocerebellar ataxia type 10 - A review. Parkinsonism Relat Disord (2011) 1.33
Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? Am J Hum Genet (2005) 1.32
Targeted connexin26 ablation arrests postnatal development of the organ of Corti. Biochem Biophys Res Commun (2009) 1.32
Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study. BMC Med Genet (2006) 1.30
Knockdown of FLOT1 impairs cell proliferation and tumorigenicity in breast cancer through upregulation of FOXO3a. Clin Cancer Res (2011) 1.30
Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients. Ann Neurol (2007) 1.29
Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design. Mov Disord (2010) 1.29
A semi-floating gate transistor for low-voltage ultrafast memory and sensing operation. Science (2013) 1.28
Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10. Ann Neurol (2002) 1.28
MicroRNA-224 targets RKIP to control cell invasion and expression of metastasis genes in human breast cancer cells. Biochem Biophys Res Commun (2012) 1.28
Computing the viscosity of supercooled liquids. J Chem Phys (2009) 1.27
Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. J Mol Diagn (2004) 1.27
A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach. Genet Test Mol Biomarkers (2012) 1.26
Preclinical characterization of the CDK4/6 inhibitor LY2835219: in-vivo cell cycle-dependent/independent anti-tumor activities alone/in combination with gemcitabine. Invest New Drugs (2014) 1.26
Connexin30 null and conditional connexin26 null mice display distinct pattern and time course of cellular degeneration in the cochlea. J Comp Neurol (2009) 1.25
Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. Brain (2004) 1.25
Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families. Neurogenetics (2006) 1.24
Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). PLoS One (2009) 1.23
Behçet's disease (Adamantiades-Behçet's disease). Clin Dev Immunol (2010) 1.21
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models. Brain Res (2009) 1.20
Genome-wide DNA methylation patterns in naive CD4+ T cells from patients with primary Sjögren's syndrome. Arthritis Rheumatol (2014) 1.20
Tridermal tumorigenesis of induced pluripotent stem cells transplanted in ischemic brain. J Cereb Blood Flow Metab (2010) 1.19
Transgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: a toxic RNA gain-of-function model. J Neurosci Res (2011) 1.18
Gap junction mediated intercellular metabolite transfer in the cochlea is compromised in connexin30 null mice. PLoS One (2008) 1.16
Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity. Hum Mol Genet (2012) 1.16
Molecular profile of catabolic versus anabolic treatment regimens of parathyroid hormone (PTH) in rat bone: an analysis by DNA microarray. J Cell Biochem (2005) 1.15
Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10. Arch Neurol (2002) 1.14
The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions. Hum Mol Genet (2002) 1.14
At what scale should microarray data be analyzed? Am J Pharmacogenomics (2004) 1.14
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. Genomics (2007) 1.13
Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. Neurogenetics (2013) 1.11
Targeting oncogenic miR-335 inhibits growth and invasion of malignant astrocytoma cells. Mol Cancer (2011) 1.11
Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability. Eur J Hum Genet (2013) 1.10
Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31. Hum Genet (2008) 1.08
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet (2004) 1.08
NFATc4 is negatively regulated in miR-133a-mediated cardiomyocyte hypertrophic repression. Am J Physiol Heart Circ Physiol (2010) 1.07
Expression patterns of aquaporins in the inner ear: evidence for concerted actions of multiple types of aquaporins to facilitate water transport in the cochlea. Hear Res (2002) 1.06
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. Am J Hum Genet (2012) 1.05
Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. Hum Mol Genet (2002) 1.05
Acid-sensing ion channel 2 contributes a major component to acid-evoked excitatory responses in spiral ganglion neurons and plays a role in noise susceptibility of mice. J Neurosci (2004) 1.05
Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10. Arch Neurol (2007) 1.05
Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients. Mov Disord (2010) 1.04
Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus. Arthritis Rheum (2010) 1.04
Downregulation of miR-138 sustains NF-κB activation and promotes lipid raft formation in esophageal squamous cell carcinoma. Clin Cancer Res (2013) 1.03
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. Hum Mutat (2004) 1.03
Thymus and activation-regulated chemokine (TARC/CCL17) in mycosis fungoides: serum TARC levels reflect the disease activity of mycosis fungoides. J Am Acad Dermatol (2003) 1.02
Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families. Am J Med Genet (2002) 1.02
Chemotherapeutic deletion of CTG repeats in lymphoblast cells from DM1 patients. Nucleic Acids Res (2004) 1.01
FXTAS, SCA10, and SCA17 in American patients with movement disorders. Am J Med Genet A (2005) 1.01
Huntington's Disease-like 2 (HDL2) in North America and Japan. Ann Neurol (2004) 1.01
Increased serum cutaneous T cell-attracting chemokine (CCL27) levels in patients with atopic dermatitis and psoriasis vulgaris. J Allergy Clin Immunol (2003) 1.01
Impact of genetic ancestry and sociodemographic status on the clinical expression of systemic lupus erythematosus in American Indian-European populations. Arthritis Rheum (2012) 1.01
Fish oil enhances intestinal integrity and inhibits TLR4 and NOD2 signaling pathways in weaned pigs after LPS challenge. J Nutr (2012) 1.00
In vivo imaging of autophagy in a mouse stroke model. Autophagy (2010) 1.00
Differential expression and function of Toll-like receptors in Langerhans cells: comparison with splenic dendritic cells. J Invest Dermatol (2004) 1.00
hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome. Hum Mol Genet (2008) 1.00
Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? Mov Disord (2005) 1.00
Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders. Neurobiol Aging (2013) 1.00
Liver trauma: experience in 348 cases. World J Surg (2003) 1.00
Deoxygedunin, a natural product with potent neurotrophic activity in mice. PLoS One (2010) 0.99