Arthur Beaudet

Summary

Affiliation: Texas Medical Center
Country: USA

Publications

  1. pmc P-Selectin or intercellular adhesion molecule (ICAM)-1 deficiency substantially protects against atherosclerosis in apolipoprotein E-deficient mice
    R G Collins
    Department of Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Exp Med 191:189-94. 2000
  2. pmc Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region
    Yong hui Jiang
    Department of Molecular, Baylor College of Medicine, Houston, TX 77030, USA
    BMC Genomics 9:50. 2008
  3. ncbi request reprint Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
    U Albrecht
    Department of Biochemistry, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 17:75-8. 1997
  4. ncbi request reprint Epigenetics and human disease
    Yong hui Jiang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Annu Rev Genomics Hum Genet 5:479-510. 2004
  5. pmc A rheostat model for a rapid and reversible form of imprinting-dependent evolution
    Arthur L Beaudet
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm T619, Houston, TX 77030, USA
    Am J Hum Genet 70:1389-97. 2002
  6. ncbi request reprint Array-based DNA diagnostics: let the revolution begin
    Arthur L Beaudet
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Annu Rev Med 59:113-29. 2008
  7. ncbi request reprint Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells
    Ting Fen Tsai
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Genesis 37:151-61. 2003
  8. ncbi request reprint A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A
    Yong hui Jiang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 131:1-10. 2004
  9. pmc Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
    Trilochan Sahoo
    Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 40:719-21. 2008
  10. pmc Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases
    Lina Shao
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 146:2242-51. 2008

Research Grants

  1. Human neurobehavioral phenotypes associates with the extended PWS/AS domain
    Arthur L Beaudet; Fiscal Year: 2010
  2. GENETICS OF PRADER-WILLI/ANGELMAN
    Arthur Beaudet; Fiscal Year: 2000
  3. Rare disease CRC for new therapies and new diagnostics
    Arthur Beaudet; Fiscal Year: 2006
  4. Genetics of Prader-Willi/Angelman syndrome
    Arthur Beaudet; Fiscal Year: 2005
  5. Genetics of Prader-Willi/Angelman syndrome
    Arthur Beaudet; Fiscal Year: 2004
  6. GENETICS OF PRADER-WILLI/ANGELMAN
    Arthur Beaudet; Fiscal Year: 2003
  7. GENETICS OF PRADER-WILLI/ANGELMAN
    Arthur Beaudet; Fiscal Year: 2002
  8. MEDICAL GENETICS RESEARCH FELLOWSHIP PROGRAM
    Arthur Beaudet; Fiscal Year: 2007
  9. Genetics of Prader-Willi/Angelman syndrome
    Arthur Beaudet; Fiscal Year: 2007
  10. Genetics of Prader-Willi/Angelman syndrome
    Arthur Beaudet; Fiscal Year: 2006

Detail Information

Publications78

  1. pmc P-Selectin or intercellular adhesion molecule (ICAM)-1 deficiency substantially protects against atherosclerosis in apolipoprotein E-deficient mice
    R G Collins
    Department of Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Exp Med 191:189-94. 2000
    ..01). These results, coupled with the closely controlled genetics of this study, indicate that reductions in the expression of P-selectin, ICAM-1, or E-selectin provide direct protection from atherosclerotic lesion formation in this model...
  2. pmc Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region
    Yong hui Jiang
    Department of Molecular, Baylor College of Medicine, Houston, TX 77030, USA
    BMC Genomics 9:50. 2008
    ..Taking advantage of the human genome sequence, we have performed extensive sequence analysis and molecular studies for the PWS candidate region...
  3. ncbi request reprint Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
    U Albrecht
    Department of Biochemistry, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 17:75-8. 1997
    ..The major phenotypic features of AS correlate with the loss of maternal-specific expression of Ube3a in hippocampus and cerebellum as revealed in the mouse model...
  4. ncbi request reprint Epigenetics and human disease
    Yong hui Jiang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Annu Rev Genomics Hum Genet 5:479-510. 2004
    ..The MEGDI model may apply to some complex disease traits and could explain negative results in genome-wide genetic scans...
  5. pmc A rheostat model for a rapid and reversible form of imprinting-dependent evolution
    Arthur L Beaudet
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm T619, Houston, TX 77030, USA
    Am J Hum Genet 70:1389-97. 2002
    ..Moreover, this would be a reversible form of evolution, with the ability not only to protect a silent allele from selection for many generations but to reactivate and expand it in the population quickly...
  6. ncbi request reprint Array-based DNA diagnostics: let the revolution begin
    Arthur L Beaudet
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Annu Rev Med 59:113-29. 2008
    ..Future applications of high-throughput genotyping and array-based DNA sequencing technology will undoubtedly involve research and diagnostic analyses of rare mutations and perhaps ultimately enable full individual genome sequencing...
  7. ncbi request reprint Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells
    Ting Fen Tsai
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Genesis 37:151-61. 2003
    ....
  8. ncbi request reprint A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A
    Yong hui Jiang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 131:1-10. 2004
    ..A mixed epigenetic and genetic and mixed de novo and inherited (MEGDI) model could be relevant to other "complex disease traits"...
  9. pmc Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
    Trilochan Sahoo
    Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 40:719-21. 2008
    ....
  10. pmc Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases
    Lina Shao
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 146:2242-51. 2008
    ..Targeted array-CGH with extended coverage (up to 10 Mb) of subtelomeric regions will enhance the detection of subtelomeric imbalances, especially for submicroscopic imbalances...
  11. ncbi request reprint The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology
    Scott V Dindot
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Hum Mol Genet 17:111-8. 2008
    ..Collectively, these data suggest that the neurological deficits observed in AS patients and in AS mice may result from specific abnormalities in synaptic development and/or plasticity...
  12. ncbi request reprint Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
    Jonathan S Berg
    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas 77030, USA
    Genet Med 9:427-41. 2007
    ..23), including two children who inherited the microduplication from one of their parents, to more fully characterize this emerging microduplication syndrome...
  13. ncbi request reprint Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations
    Trilochan Sahoo
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 15:943-9. 2007
    ..Larger deletions result in a loss of several genes outside the common Angelman syndrome-Prader-Willi syndrome (AS-PWS) critical interval, and a more severe phenotype...
  14. ncbi request reprint Helper-dependent adenoviral vector-mediated long-term expression of human apolipoprotein A-I reduces atherosclerosis in apo E-deficient mice
    Lucio Pastore
    Department of Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX, 77030, USA
    Gene 327:153-60. 2004
    ..In conclusion, liver-directed gene transfer of human APOA-I using a HD-Ad vector resulted in a reduction of the development of atherosclerosis with the absence of significant toxicity...
  15. pmc Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid
    Sarika U Peters
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 152:1994-2001. 2010
    ..There were no statistically significant changes between treated and untreated children; however, in a small subset of patients we observed some positive trends...
  16. pmc Genetic ablation of the steroid receptor coactivator-ubiquitin ligase, E6-AP, results in tissue-selective steroid hormone resistance and defects in reproduction
    Carolyn L Smith
    Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas 77030 3498, USA
    Mol Cell Biol 22:525-35. 2002
    ....
  17. ncbi request reprint Pseudo-hydrodynamic delivery of helper-dependent adenoviral vectors into non-human primates for liver-directed gene therapy
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Mol Ther 15:732-40. 2007
    ..Using a low, clinically relevant vector dose, this minimally invasive method results in high-efficiency hepatic transduction with minimal toxicity and stable long-term transgene expression for at least 413 days...
  18. ncbi request reprint Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics
    Sau W Cheung
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Am J Med Genet A 143:1679-86. 2007
    ..This suggests that aCGH may detect somatic chromosomal mosaicism that would be missed by conventional cytogenetics...
  19. ncbi request reprint Cognitive and adaptive behavior profiles of children with Angelman syndrome
    Sarika U Peters
    Department of Pediatrics, Division of Developmental Pediatrics, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas 77030, USA
    Am J Med Genet A 128:110-3. 2004
    ..Strong, positive correlations emerge between cognitive ability scores and adaptive behaviors scores. These results provide further delineation of a cognitive/behavioral phenotype in AS...
  20. ncbi request reprint Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements
    Trilochan Sahoo
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 139:106-13. 2005
    ..This microarray provides a detailed characterization for chromosomal abnormalities involving 15q11-q14 and is useful for more precise genotype-phenotype correlations for autism, PWS, AS, and idic(15) syndrome...
  21. ncbi request reprint Production of helper-dependent adenovirus vector relies on helper virus structure and complementing
    Heshan Sam Zhou
    Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX 77030, USA
    J Gene Med 4:498-509. 2002
    ....
  22. pmc Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
    Przemyslaw Szafranski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 31:840-50. 2010
    ..Nevertheless, if they prove to have a pathological effects, their high frequency could make them a common risk factor for many neurobehavioral disorders...
  23. doi request reprint The MTHFR 677C-->T polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations
    Robin P Goin-Kochel
    Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children s Hospital, 1102 Bates Street, FC148, Houston, TX 77030, USA
    Autism Res 2:98-108. 2009
    ..Findings call for further investigation of the relationship between folate metabolism and problem behaviors among children with autism...
  24. pmc Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis
    Xin Yan Lu
    Baylor College of Medicine, Department of Molecular and Human Genetics, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA
    Pediatrics 122:1310-8. 2008
    ..Our aim was to determine the frequency of genomic imbalances in neonates with birth defects by using targeted array-based comparative genomic hybridization, also known as chromosomal microarray analysis...
  25. pmc Epigenetic profiling at mouse imprinted gene clusters reveals novel epigenetic and genetic features at differentially methylated regions
    Scott V Dindot
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genome Res 19:1374-83. 2009
    ....
  26. ncbi request reprint Reduced inflammation and improved airway expression using helper-dependent adenoviral vectors with a K18 promoter
    Gabriele Toietta
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Mol Ther 7:649-58. 2003
    ..These results suggest that delivery to the airway of helper-dependent adenoviral vectors utilizing a tissue-specific promoter could be a significant advance in the development of gene therapy for cystic fibrosis...
  27. ncbi request reprint Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
    Wei Yu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Hum Mol Genet 12:2145-52. 2003
    ..We anticipate that array CGH will change the diagnostic approach to many congenital and acquired genetic diseases such as mental retardation, birth defects and cancer...
  28. ncbi request reprint Helper-dependent adenoviral vectors
    Heshan Zhou
    Cell and Gene Therapy Center, Baylor College of Medicine, Houston, Texas 77030, USA
    Methods Enzymol 346:177-98. 2002
  29. pmc Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
    Marwan Shinawi
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, Texas 77030, USA
    J Med Genet 47:332-41. 2010
    ..Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay...
  30. ncbi request reprint Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
    Pawel Stankiewicz
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Curr Opin Genet Dev 17:182-92. 2007
    ..Commercially available genome-wide microarrays with >300,000 synthesized oligonucleotide probes enable higher resolution and sensitivity and will probably replace the BAC/PAC arrays in clinical laboratories...
  31. pmc A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes
    Marwan Shinawi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 41:1269-71. 2009
    ..3. Although this deletion also affects OTUD7A, accumulated data suggest that haploinsufficiency of CHRNA7 is causative for the majority of neurodevelopmental phenotypes in the 15q13.3 microdeletion syndrome...
  32. ncbi request reprint Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization
    Daniela del Gaudio
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 29:1100-7. 2008
    ....
  33. pmc Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain
    Mei Yi Wu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genes Dev 20:2859-70. 2006
    ..These data identify Rbbp1/Arid4a and Rbbp1l1/Arid4b as new members of epigenetic complexes regulating genomic imprinting at the PWS/AS domain...
  34. ncbi request reprint Mouse imprinting defect mutations that model Angelman syndrome
    Mei Yi Wu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genesis 44:12-22. 2006
    ..A second mutation, an 80-kb deletion extending upstream of the first mutation, caused a similar imprinting defect with variable penetrance. These results suggest that there is a mouse functional equivalent to the human AS-IC...
  35. ncbi request reprint Development and validation of a CGH microarray for clinical cytogenetic diagnosis
    Sau W Cheung
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Genet Med 7:422-32. 2005
    ..We developed a microarray for clinical diagnosis of chromosomal disorders using large insert genomic DNA clones as targets for comparative genomic hybridization (CGH)...
  36. ncbi request reprint Evidence for translational regulation of the imprinted Snurf-Snrpn locus in mice
    Ting Fen Tsai
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Hum Mol Genet 11:1659-68. 2002
    ....
  37. ncbi request reprint Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome
    Edwin J Weeber
    Division of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA
    J Neurosci 23:2634-44. 2003
    ..These findings are the first to implicate misregulation of CaMKII as a molecular cause for the neurobehavioral deficits in a human learning disorder...
  38. ncbi request reprint Generation of helper-dependent adenoviral vectors by homologous recombination
    Gabriele Toietta
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Mol Ther 5:204-10. 2002
    ..coli, with no significant alteration of liver enzymes and a less severe, transient thrombocytopenia in comparison with previous reports with similar doses of a FG-Ad vector...
  39. ncbi request reprint Sustained phenotypic correction of canine hemophilia B after systemic administration of helper-dependent adenoviral vector
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 16:811-20. 2005
    ..The results of this study highlight both the potential benefit and the risk associated with systemic intravascular delivery of high-dose HDAd for liver-directed gene therapy...
  40. pmc Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3
    Yong hui Jiang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS ONE 5:e12278. 2010
    ..These mice will be valuable for future comparative studies to mice with maternal deficiency of Ube3a alone...
  41. ncbi request reprint Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia
    Olaf A Bodamer
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Clin Chem 48:1913-8. 2002
    ..Currently, clinical diagnosis of FH is imprecise, and molecular diagnosis is labor-intensive and expensive because of the size of the LDLR gene and number of coding exons...
  42. pmc Allan Award lecture: Rare patients leading to epigenetics and back to genetics
    Arthur L Beaudet
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030, USA
    Am J Hum Genet 82:1034-8. 2008
  43. ncbi request reprint Human disorders of ubiquitination and proteasomal degradation
    Yong hui Jiang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Curr Opin Pediatr 16:419-26. 2004
    ..The relevant genes encode ubiquitin, ubiquitin enzymes (E1 and many E2s and E3s), deubiquitinating enzymes, proteasomal subunits, and substrates undergoing ubiquitination...
  44. pmc Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses
    Zhishuo Ou
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 10:278-89. 2008
    ....
  45. ncbi request reprint Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
    Daniela del Gaudio
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Genet Med 8:784-92. 2006
    ..Recent clinical testing for MECP2 gene rearrangements revealed that entire MECP2 gene duplication occurs in some males manifesting a progressive neurodevelopmental syndrome...
  46. ncbi request reprint Is medical genetics neglecting epigenetics?
    Arthur L Beaudet
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Genet Med 4:399-402. 2002
  47. ncbi request reprint Lethal toxicity, severe endothelial injury, and a threshold effect with high doses of an adenoviral vector in baboons
    Nuria Morral
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 13:143-54. 2002
    ..Extensive histological studies provide a detailed picture of the pathology associated with a lethal dose of first-generation adenoviral vector in a primate...
  48. pmc Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA
    Svetlana A Yatsenko
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Mol Diagn 11:226-37. 2009
    ....
  49. ncbi request reprint Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors into nonhuman primates
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 15:35-46. 2004
    ....
  50. ncbi request reprint Increased hepatic transduction with reduced systemic dissemination and proinflammatory cytokines following hydrodynamic injection of helper-dependent adenoviral vectors
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Ther 12:99-106. 2005
    ..These results further suggest that the safety and efficacy of HDAd-mediated, liver-directed gene therapy may be improved if the vector could be preferentially, if not exclusively, targeted to liver...
  51. ncbi request reprint Differential requirement for CD18 in T-helper effector homing
    Seung Hyo Lee
    Biology of Inflammation Center and Department of Immunology, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Nat Med 9:1281-6. 2003
    ..These findings suggest a new integrin-based therapeutic approach in which the outcomes of diverse diseases may be favorably influenced by altering the homing of T(H)2 cells...
  52. doi request reprint Increased LIS1 expression affects human and mouse brain development
    Weimin Bi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 41:168-77. 2009
    ..Collectively, our results show that an increase in LIS1 expression in the developing brain results in brain abnormalities in mice and humans...
  53. pmc Lifelong elimination of hyperbilirubinemia in the Gunn rat with a single injection of helper-dependent adenoviral vector
    Gabriele Toietta
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 102:3930-5. 2005
    ..We conclude that complete, long-term correction of hyperbilirubinemia in the Gunn rat model of Crigler-Najjar syndrome can be achieved with one injection of HD-Ad vector and negligible chronic toxicity...
  54. ncbi request reprint Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization
    Trilochan Sahoo
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Genet Med 8:719-27. 2006
    ..This study was designed to evaluate the feasibility of using a targeted array-CGH strategy for prenatal diagnosis of genomic imbalances in a clinical setting of current pregnancies...
  55. pmc Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases
    Xinyan Lu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS ONE 2:e327. 2007
    ..We report our experience with the clinical implementation of this high resolution human genome analysis, referred to as Chromosomal Microarray Analysis (CMA)...
  56. ncbi request reprint Improved hepatic transduction, reduced systemic vector dissemination, and long-term transgene expression by delivering helper-dependent adenoviral vectors into the surgically isolated liver of nonhuman primates
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 17:391-404. 2006
    ..Importantly, stable, high levels of transgene expression were obtained for at least 665 days for one baboon and for at least 560 days for two baboons with no evidence of long-term toxicity...
  57. pmc E-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-beta
    Tao Yang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Clin Invest 120:2474-85. 2010
    ..This study identifies what we believe to be a novel intracellular mechanism for regulating TGF-beta during skeletal development and homeostasis...
  58. pmc Efficient, long-term hepatic gene transfer using clinically relevant HDAd doses by balloon occlusion catheter delivery in nonhuman primates
    Nicola Brunetti-Pierri
    1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Mol Ther 17:327-33. 2009
    ..These results suggest that our minimally invasive method of delivery can significantly improve the vector's therapeutic index and may be a first step toward clinical application of HDAd for liver-directed gene therapy...
  59. ncbi request reprint A gene fusion method to screen for regulatory effects on gene expression: application to the LDL receptor
    Kaiyi Li
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 11:3257-65. 2002
    ..The data demonstrate the feasibility of using gene fusions to screen for drugs and genetic factors that affect expression of a wide variety of genes of interest...
  60. ncbi request reprint Functional polymorphisms in the human beta4 subunit of nicotinic acetylcholine receptors
    Yong Liang
    Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA
    Neurogenetics 6:37-44. 2005
    ....
  61. ncbi request reprint Long-term correction of ornithine transcarbamylase deficiency by WPRE-mediated overexpression using a helper-dependent adenovirus
    Asad Mian
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Ther 10:492-9. 2004
    ..These data represent an important approach for treating human inborn errors of hepatocyte metabolism like the UCDs that require high-level transduction and gene expression for clinical correction...
  62. ncbi request reprint Comparative genomic hybridization and prenatal diagnosis
    Ignatia B Van den Veyver
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, USA
    Curr Opin Obstet Gynecol 18:185-91. 2006
    ....
  63. ncbi request reprint Epigenetics and complex human disease: is there a role in IBD?
    Arthur L Beaudet
    Baylor College of Medicine, Houston, TX, USA
    J Pediatr Gastroenterol Nutr 46:E2. 2008
  64. pmc Requirement of nicotinic acetylcholine receptor subunit beta2 in the maintenance of spiral ganglion neurons during aging
    Jianxin Bao
    Department of Otolaryngology, Center for Aging, Washington University, St Louis, Missouri 63110, USA
    J Neurosci 25:3041-5. 2005
    ..Our findings clearly established a requirement for beta2 nAChR subunit in the maintenance of SGNs during aging...
  65. ncbi request reprint Gene transfer of CFTR to airway epithelia: low levels of expression are sufficient to correct Cl- transport and overexpression can generate basolateral CFTR
    Sara L Farmen
    Howard Hughes Medical Institute, Roy J and Lucille A Carver College of Medicine, University of Iowa, 500 EMRB, Iowa City, IA 52242, USA
    Am J Physiol Lung Cell Mol Physiol 289:L1123-30. 2005
    ..Thus they suggest a broad leeway in promoter strength for correcting the CF gene transfer, although at very high expression levels CFTR may be mislocalized to the basolateral membrane...
  66. ncbi request reprint Control of leukocyte rolling velocity in TNF-alpha-induced inflammation by LFA-1 and Mac-1
    Jessica L Dunne
    Department of Biomedical Engineering and Cardiovascular Research Center, University of Virginia Health Sciences Center, Charlottesville, VA 22908, USA
    Blood 99:336-41. 2002
    ..Thus, both LFA-1 and Mac-1 contribute to slowing down rolling leukocytes, although LFA-1 is more important than Mac-1 in efficiently inducing firm adhesion...
  67. ncbi request reprint Mice lacking neuronal nicotinic acetylcholine receptor beta4-subunit and mice lacking both alpha5- and beta4-subunits are highly resistant to nicotine-induced seizures
    Merav Kedmi
    Genetic Institute, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    Physiol Genomics 17:221-9. 2004
    ..However, the alpha5-subunit, but not the beta4-subunit, regulates the rate of response to high doses of nicotine...
  68. ncbi request reprint Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity
    Jennifer Miller
    Department of Pediatrics and the Center for Mammalian Genetics, University of Florida, College of Medicine, Gainesville, Florida 32610 0296, USA
    J Pediatr 149:192-8. 2006
    ..To examine whether early-onset morbid obesity is associated with cognitive impairment, neuropathologic changes, and behavioral problems...
  69. ncbi request reprint Mac-1, but not LFA-1, uses intercellular adhesion molecule-1 to mediate slow leukocyte rolling in TNF-alpha-induced inflammation
    Jessica L Dunne
    Department of Biomedical Engineering and Cardiovascular Research Center, University of Virginia Health Sciences Center, Charlottesville, VA 22908, USA
    J Immunol 171:6105-11. 2003
    ..However, blocking both Mac-1 and ICAM-1 had no greater effect than either blockade alone. We conclude that endothelial ICAM-1 is the main ligand responsible for slow leukocyte rolling mediated by Mac-1, but not LFA-1...
  70. ncbi request reprint Angelman syndrome 2005: updated consensus for diagnostic criteria
    Charles A Williams
    Department of Pediatrics, Division of Genetics, R C Philips Unit, University of Florida, Gainesville, Florida 32610, USA
    Am J Med Genet A 140:413-8. 2006
    ....
  71. ncbi request reprint Intercellular adhesion molecule-1 expression is required on multiple cell types for the development of experimental autoimmune encephalomyelitis
    Daniel C Bullard
    Department of Genetics, University of Alabama at Birmingham, 845 19th Street South, Birmingham, AL 35294, USA
    J Immunol 178:851-7. 2007
    ....
  72. pmc Receptor-mediated tobacco toxicity: regulation of gene expression through alpha3beta2 nicotinic receptor in oral epithelial cells
    Juan Arredondo
    Department of Dermatology, University of California Davis Medical Center, 4860 Y St, Suite 3400, Sacramento, CA 95817, USA
    Am J Pathol 166:597-613. 2005
    ..This novel mechanism offers innovative solutions to ameliorate the tobacco-related cell damage and intercede in disease pathways, and may shed light on general mechanisms regulating and driving tobacco-related morbidity in human cells...
  73. ncbi request reprint Complex imprinting
    Arthur L Beaudet
    Nat Genet 36:793-5. 2004
  74. pmc Identification of chromatin remodeling genes Arid4a and Arid4b as leukemia suppressor genes
    Mei Yi Wu
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    J Natl Cancer Inst 100:1247-59. 2008
    ..The involvement of two chromatin remodeling genes, retinoblastoma-binding protein 1 (Rbbp1/Arid4a) and Rbbp1-like 1 (Rbbp1l1/Arid4b), in leukemogenesis was not characterized...
  75. ncbi request reprint Synergistic control of keratinocyte adhesion through muscarinic and nicotinic acetylcholine receptor subtypes
    Vu Thuong Nguyen
    Department of Dermatology, University of California, Davis, Sacramento, CA 95817, USA
    Exp Cell Res 294:534-49. 2004
    ..These findings may aid in the development of novel methods useful for the treatment of skin adhesion diseases and tumor metastasis...
  76. ncbi request reprint Microarray analysis for constitutional cytogenetic abnormalities
    Lisa G Shaffer
    Signature Genomic Laboratories, Spokane, Washington, USA
    Genet Med 9:654-62. 2007
  77. ncbi request reprint Autism: highly heritable but not inherited
    Arthur L Beaudet
    Nat Med 13:534-6. 2007
  78. ncbi request reprint Involvement of the alpha3 subunit in central nicotinic binding populations
    Paul Whiteaker
    Institute for Behavioral Genetics, University of Colorado, Boulder, Colorado 80309, USA
    J Neurosci 22:2522-9. 2002
    ..However, widespread but lower levels of alpha3-independent -resistant [125I]epibatidine binding were also seen. Again, this may indicate the existence of an additional, minor population of non-alpha3 -resistant sites...

Research Grants19

  1. Human neurobehavioral phenotypes associates with the extended PWS/AS domain
    Arthur L Beaudet; Fiscal Year: 2010
    ....
  2. GENETICS OF PRADER-WILLI/ANGELMAN
    Arthur Beaudet; Fiscal Year: 2000
    ..The use of a coat color marker as a reporter for analysis of gene regulation in vivo in combination with mutagenesis has general applicability beyond imprinted gene expression. ..
  3. Rare disease CRC for new therapies and new diagnostics
    Arthur Beaudet; Fiscal Year: 2006
    ..abstract_text> ..
  4. Genetics of Prader-Willi/Angelman syndrome
    Arthur Beaudet; Fiscal Year: 2005
    ..The hypothesis that intracytoplasmic sperm injection (ICSI) may cause imprinting defects will be tested in mice using a gene fusion method which allows detection of these defects based on coat color. ..
  5. Genetics of Prader-Willi/Angelman syndrome
    Arthur Beaudet; Fiscal Year: 2004
    ..The hypothesis that intracytoplasmic sperm injection (ICSI) may cause imprinting defects will be tested in mice using a gene fusion method which allows detection of these defects based on coat color. ..
  6. GENETICS OF PRADER-WILLI/ANGELMAN
    Arthur Beaudet; Fiscal Year: 2003
    ..The use of a coat color marker as a reporter for analysis of gene regulation in vivo in combination with mutagenesis has general applicability beyond imprinted gene expression. ..
  7. GENETICS OF PRADER-WILLI/ANGELMAN
    Arthur Beaudet; Fiscal Year: 2002
    ..The use of a coat color marker as a reporter for analysis of gene regulation in vivo in combination with mutagenesis has general applicability beyond imprinted gene expression. ..
  8. MEDICAL GENETICS RESEARCH FELLOWSHIP PROGRAM
    Arthur Beaudet; Fiscal Year: 2007
    ....
  9. Genetics of Prader-Willi/Angelman syndrome
    Arthur Beaudet; Fiscal Year: 2007
    ..The hypothesis that intracytoplasmic sperm injection (ICSI) may cause imprinting defects will be tested in mice using a gene fusion method which allows detection of these defects based on coat color. ..
  10. Genetics of Prader-Willi/Angelman syndrome
    Arthur Beaudet; Fiscal Year: 2006
    ..The hypothesis that intracytoplasmic sperm injection (ICSI) may cause imprinting defects will be tested in mice using a gene fusion method which allows detection of these defects based on coat color. ..
  11. Rare disease CRC for new therapies and new diagnostics
    Arthur Beaudet; Fiscal Year: 2005
    ..abstract_text> ..
  12. Rare disease CRC for new therapies and new diagnostics
    Arthur Beaudet; Fiscal Year: 2004
    ..abstract_text> ..
  13. Rare disease CRC for new therapies and new diagnostics
    Arthur Beaudet; Fiscal Year: 2003
    ..abstract_text> ..
  14. GENETICS OF PRADER-WILLI/ANGELMAN
    Arthur Beaudet; Fiscal Year: 2001
    ..The use of a coat color marker as a reporter for analysis of gene regulation in vivo in combination with mutagenesis has general applicability beyond imprinted gene expression. ..
  15. GENETICS OF PRADER-WILLI/ANGELMAN
    Arthur Beaudet; Fiscal Year: 1999
    ..The use of a coat color marker as a reporter for analysis of gene regulation in vivo in combination with mutagenesis has general applicability beyond imprinted gene expression. ..