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Genomes and Genes | David L NelsonSummaryAffiliation: Baylor College of Medicine Country: USA Publications
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Publications
The unstable repeats-three evolving faces of neurological diseaseDavid L Nelson
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA Electronic address
Neuron 77:825-43. 2013..In addition to providing insight into the mechanisms underlying these devastating neurological disorders, the study of these unstable microsatellite repeat disorders has provided insight into very basic aspects of neuroscience...
NEMO, NFkappaB signaling and incontinentia pigmentiDavid L Nelson
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Curr Opin Genet Dev 16:282-8. 2006..Recent advances in mouse models and in understanding the multiple roles of NEMO in the cell provide additional avenues to define the various roles of NEMO in NFkappaB signaling...- RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTASOyinkan A Sofola
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Neuron 55:565-71. 2007..Furthermore, we show that hnRNP A2/B1 directly interacts with riboCGG repeats and that the CUGBP1 protein interacts with the riboCGG repeats via hnRNP A2/B1... - The Drosophila FMRP and LARK RNA-binding proteins function together to regulate eye development and circadian behaviorOyinkan Sofola
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
J Neurosci 28:10200-5. 2008..Furthermore, we show genetic interactions between the corresponding genes indicating that dFMRP and LARK function together to regulate eye development and circadian behavior... - Fragile X-related proteins regulate mammalian circadian behavioral rhythmsJing Zhang
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Am J Hum Genet 83:43-52. 2008.... - Ectopic expression of CGG containing mRNA is neurotoxic in mammalsVera Hashem
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 18:2443-51. 2009.... 
Social behavior in Fmr1 knockout mice carrying a human FMR1 transgeneCorinne M Spencer
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Behav Neurosci 122:710-5. 2008..This finding expands the number of murine behavioral responses caused by Fmr1 deficiency and corrected by overexpression of human FMRP...- Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?Tohru Matsuura
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Hum Genet 78:125-9. 2006..Our findings for SCA10 challenge this convention and suggest that the purity of the expanded repeat element may be a disease modifier... - Altered hippocampal synaptic plasticity in the FMR1 gene family knockout mouse modelsJing Zhang
Baylor College of Medicine, Department of Molecular and Human Genetics, One Baylor Plaza, Houston, TX 77030, USA
J Neurophysiol 101:2572-80. 2009..These results indicated that both FMRP and FXR2P function in synaptic plasticity and that they likely operate in related but independent pathways... - Reversal of sensorimotor gating abnormalities in Fmr1 knockout mice carrying a human Fmr1 transgeneRichard Paylor
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Behav Neurosci 122:1371-7. 2008.... - Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardationFrank J Probst
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet A 143:1358-65. 2007..This case demonstrates the utility of CMA both for detecting a submicroscopic chromosomal deletion and for suggesting further testing that could possibly lead to therapeutic options for patients with developmental delay... - Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between Fragile X-related proteinsCorinne M Spencer
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 15:1984-94. 2006..Our findings suggest that Fmr1 and Fxr2 genes contribute in a cooperative manner to pathways controlling locomotor activity, sensorimotor gating and cognitive processes... - Positive selection of a pre-expansion CAG repeat of the human SCA2 geneFuli Yu
Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA
PLoS Genet 1:e41. 2005..These results suggest that a recent positive selection of the pre-expansion SCA2 CAG repeat has occurred in Utah residents with European ancestry... - Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeatOyinkan A Sofola
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 16:2326-32. 2007..These data support the concept that RNA toxicity is the mechanism of neuronal toxicity and suggests potential reversal of RNA-mediated phenotypes with complementary RNA molecules... - Evolutionary and biomedical insights from the rhesus macaque genomeRichard A Gibbs
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA
Science 316:222-34. 2007..The complete description of the macaque genome blueprint enhances the utility of this animal model for biomedical research and improves our understanding of the basic biology of the species... - Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic miceAndrea M Peier
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genomics 80:423-32. 2002..Overall, our results indicate both similarities and differences between the behavior of a premutation-sized repeat in mouse and that in human... - Genetics. The critical region in trisomy 21David L Nelson
Department of Molecular and Human Genetics and the Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA
Science 306:619-21. 2004 - Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10Tohru Matsuura
Department of Neurology, Baylor College of Medicine, Houston, TX, USA
Am J Hum Genet 74:1216-24. 2004.... - Haplotype and linkage disequilibrium architecture for human cancer-associated genesPenelope E Bonnen
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genome Res 12:1846-53. 2002..As a result, a low marker density should be adequate to identify haplotypes that represent the common variation at a locus, thereby decreasing costs and increasing efficacy of association studies... - Human genetics. Primate shadow playRichard A Gibbs
Department of Molecular and Human Genetics, Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA
Science 299:1331-3. 2003 - Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out miceYanghong Gu
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
J Neurosci 22:2753-63. 2002..Thus, although a number of studies have suggested that diminished LTP is associated with memory impairment, our data suggest that increased LTP may be a mechanism that leads to impaired cognitive processing as well... - The human secretin gene: fine structure in 11p15.5 and sequence variation in patients with autismTakanori Yamagata
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genomics 80:185-94. 2002..Although imprinting is a characteristic of some genes in the vicinity, we could find no evidence for methylation of SCT in lymphoblast cells from patients or control individuals... - Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28Swaroop Aradhya
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza 902E, Houston, TX 77030, USA
Genomics 79:31-40. 2002..Collectively, these data highlight some interesting features of the genomic sequence in Xq28 and will be useful for positional cloning efforts, mouse mutagenesis studies, and further evolutionary analyses... - Complex SNP-based haplotypes in three human helicases: implications for cancer association studiesDimitra Trikka
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Genome Res 12:627-39. 2002.... - Pharmacologic characterization of the cloned human trace amine-associated receptor1 (TAAR1) and evidence for species differences with the rat TAAR1David B Wainscott
Eli Lilly Research Laboratories, Eli Lilly and Company, Lilly Corporate Center, Mail Drop 0510, Indianapolis, IN 46285, USA
J Pharmacol Exp Ther 320:475-85. 2007..This unique pharmacologic profile suggests the potential for development of TAAR-selective agonists and antagonists to study their physiologic roles... - Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenesSebastiano A Musumeci
Department of Neurology, Oasi Institute for Research on Mental Retardation and Brain Aging IRCCS, Troina, Italy
Exp Neurol 203:233-40. 2007..We found that AGS susceptibility rescue is complete in the G6 mice and partial in YAC mice. Our data indicate that the introduction of the human FMR1 gene in Fmr1 KO mice is able to revert the Fmr1 KO epileptic phenotype... - [3H]LY334370, a novel radioligand for the 5-HT1F receptor. II. Autoradiographic localization in rat, guinea pig, monkey and human brainVirginia L Lucaites
Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, IN 46285, USA
Naunyn Schmiedebergs Arch Pharmacol 371:178-84. 2005.... - The DNA sequence of the human X chromosomeMark T Ross
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
Nature 434:325-37. 2005..Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence... - Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathwayPeng Jin
Department of Human Genetics, Emory University, 615 Michael Street, Atlanta, Georgia 30322, USA
Nat Neurosci 7:113-7. 2004..Our results suggest that FMRP may regulate neuronal translation via microRNAs and links microRNAs with human disease...