Experts and Doctors on gene dosage in Los Angeles, California, United States

Summary

Locale: Los Angeles, California, United States
Topic: gene dosage

Top Publications

  1. Paine M, Luo W, Wang H, Bringas P, Ngan A, Miklus V, et al. Dentin sialoprotein and dentin phosphoprotein overexpression during amelogenesis. J Biol Chem. 2005;280:31991-8 pubmed
    ..These results support the notion that the dentin proteins expressed by presecretory ameloblasts contribute to the unique properties of the dentino-enamel junction. ..
  2. Mott K, Perng G, Osorio Y, Kousoulas K, Ghiasi H. A recombinant herpes simplex virus type 1 expressing two additional copies of gK is more pathogenic than wild-type virus in two different strains of mice. J Virol. 2007;81:12962-72 pubmed publisher
    ..Taken together, these results strongly suggest that increased gK levels promote eye disease and chronic infection in infected mice...
  3. Bucan M, Abrahams B, Wang K, Glessner J, Herman E, Sonnenblick L, et al. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet. 2009;5:e1000536 pubmed publisher
    ..That hundreds of distinct rare variants were each seen only once further highlights complexity in the ASDs and points to the continued need for larger cohorts. ..
  4. Elsaid A, Koriem K, Collins M. Sensitivity to cadmium-chloride-induced forelimb ectrodactyly is independent of the p53 gene-dosage in the C57BL/6J mouse. Birth Defects Res A Clin Mol Teratol. 2010;88:223-7 pubmed publisher
    ..In this study, the hypothesis that the p53 gene dosage might affect the incidence or severity of CdCl(2)-induced forelimb ectrodactyly was examined...
  5. Loh D, Kudo T, Truong D, Wu Y, Colwell C. The Q175 mouse model of Huntington's disease shows gene dosage- and age-related decline in circadian rhythms of activity and sleep. PLoS ONE. 2013;8:e69993 pubmed publisher
  6. Reddy S, Mistry D, Wang Q, Geddis L, Kutchai H, Moorman J, et al. Effects of age and gene dose on skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase. Muscle Nerve. 2002;25:850-7 pubmed
    ..The mechanism of abnormal membrane excitability in DM may in part be silencing of muscle Na channels due to Dmpk deficiency. ..
  7. Lin A, Ching C, Vajdi A, Sun D, Jonas R, Jalbrzikowski M, et al. Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry. J Neurosci. 2017;37:6183-6199 pubmed publisher
    ..2 locus. Cortical thickness and surface area were affected in opposite directions with more widespread effects of gene dosage on cortical surface area. ..
  8. Sharma R, Harris V, Cavett J, Kurien B, Liu K, Koelsch K, et al. Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome. Arthritis Rheumatol. 2017;69:2187-2192 pubmed publisher
    ..Very rare X chromosome abnormalities are present among patients with either SS or SLE and may inform the location of a gene(s) that mediates an X dose effect, as well as critical cell types in which such an effect is operative. ..
  9. Campbell K, Gastier Foster J, Mann M, Naranjo A, Van Ryn C, Bagatell R, et al. Association of MYCN copy number with clinical features, tumor biology, and outcomes in neuroblastoma: A report from the Children's Oncology Group. Cancer. 2017;123:4224-4235 pubmed publisher
    ..Patients with MYCN gain appear to have inferior outcomes, especially in otherwise more favorable groups. Cancer 2017;123:4224-4235. © 2017 American Cancer Society. ..

Detail Information

Publications9

  1. Paine M, Luo W, Wang H, Bringas P, Ngan A, Miklus V, et al. Dentin sialoprotein and dentin phosphoprotein overexpression during amelogenesis. J Biol Chem. 2005;280:31991-8 pubmed
    ..These results support the notion that the dentin proteins expressed by presecretory ameloblasts contribute to the unique properties of the dentino-enamel junction. ..
  2. Mott K, Perng G, Osorio Y, Kousoulas K, Ghiasi H. A recombinant herpes simplex virus type 1 expressing two additional copies of gK is more pathogenic than wild-type virus in two different strains of mice. J Virol. 2007;81:12962-72 pubmed publisher
    ..Taken together, these results strongly suggest that increased gK levels promote eye disease and chronic infection in infected mice...
  3. Bucan M, Abrahams B, Wang K, Glessner J, Herman E, Sonnenblick L, et al. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet. 2009;5:e1000536 pubmed publisher
    ..That hundreds of distinct rare variants were each seen only once further highlights complexity in the ASDs and points to the continued need for larger cohorts. ..
  4. Elsaid A, Koriem K, Collins M. Sensitivity to cadmium-chloride-induced forelimb ectrodactyly is independent of the p53 gene-dosage in the C57BL/6J mouse. Birth Defects Res A Clin Mol Teratol. 2010;88:223-7 pubmed publisher
    ..In this study, the hypothesis that the p53 gene dosage might affect the incidence or severity of CdCl(2)-induced forelimb ectrodactyly was examined...
  5. Loh D, Kudo T, Truong D, Wu Y, Colwell C. The Q175 mouse model of Huntington's disease shows gene dosage- and age-related decline in circadian rhythms of activity and sleep. PLoS ONE. 2013;8:e69993 pubmed publisher
  6. Reddy S, Mistry D, Wang Q, Geddis L, Kutchai H, Moorman J, et al. Effects of age and gene dose on skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase. Muscle Nerve. 2002;25:850-7 pubmed
    ..The mechanism of abnormal membrane excitability in DM may in part be silencing of muscle Na channels due to Dmpk deficiency. ..
  7. Lin A, Ching C, Vajdi A, Sun D, Jonas R, Jalbrzikowski M, et al. Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry. J Neurosci. 2017;37:6183-6199 pubmed publisher
    ..2 locus. Cortical thickness and surface area were affected in opposite directions with more widespread effects of gene dosage on cortical surface area. ..
  8. Sharma R, Harris V, Cavett J, Kurien B, Liu K, Koelsch K, et al. Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome. Arthritis Rheumatol. 2017;69:2187-2192 pubmed publisher
    ..Very rare X chromosome abnormalities are present among patients with either SS or SLE and may inform the location of a gene(s) that mediates an X dose effect, as well as critical cell types in which such an effect is operative. ..
  9. Campbell K, Gastier Foster J, Mann M, Naranjo A, Van Ryn C, Bagatell R, et al. Association of MYCN copy number with clinical features, tumor biology, and outcomes in neuroblastoma: A report from the Children's Oncology Group. Cancer. 2017;123:4224-4235 pubmed publisher
    ..Patients with MYCN gain appear to have inferior outcomes, especially in otherwise more favorable groups. Cancer 2017;123:4224-4235. © 2017 American Cancer Society. ..