G E Herman

Summary

Affiliation: The Ohio State University
Country: USA

Publications

  1. ncbi request reprint X-Linked dominant disorders of cholesterol biosynthesis in man and mouse
    G E Herman
    Children s Research Institute and Department of Pediatrics, Ohio State University, 700 Children s Dr Rm W403, Columbus, OH 43205, USA
    Biochim Biophys Acta 1529:357-73. 2000
  2. ncbi request reprint Characterization of mutations in fifty North American patients with X-linked myotubular myopathy
    Gail E Herman
    Children s Research Institute and The Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA
    Hum Mutat 19:114-21. 2002
  3. ncbi request reprint Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes
    Gail E Herman
    Center for Molecular and Human Genetics, Columbus Children s Research Institute and Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA
    Hum Mol Genet 12:R75-88. 2003
  4. ncbi request reprint The role of ZIC3 in vertebrate development
    G E Herman
    Center for Molecular and Human Genetics, Columbus Children s Research Institute and Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA
    Cytogenet Genome Res 99:229-35. 2002
  5. ncbi request reprint The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase
    X Y Liu
    Children s Hospital Research Foundation and Department of Pediatrics, The Ohio State University, Columbus 43205, USA
    Nat Genet 22:182-7. 1999
  6. ncbi request reprint Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts
    David Cunningham
    Center for Molecular and Human Genetics, Columbus Children s Research Institute, Ohio State University, Columbus, OH, USA
    J Lipid Res 46:1150-62. 2005
  7. pmc Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos
    David Cunningham
    Department of Pediatrics, The Research Institute at Nationwide Children s Hospital, The Ohio State University, Columbus, OH 43205, USA
    Hum Mol Genet 19:364-73. 2010
  8. pmc Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse
    David Cunningham
    The Research Institute at Nationwide Children s Hospital, Columbus, OH 43205, USA
    Mol Genet Metab 98:356-66. 2009
  9. ncbi request reprint Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast
    Marsha E Lucas
    Department of Pediatrics, Center for Molecular and Human Genetics, Columbus Children s Research Institute, 700 Children s Dr Rm W403, Columbus, OH 43205, USA
    Mol Genet Metab 80:227-33. 2003
  10. doi request reprint Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly
    Kim L McBride
    Center for Molecular and Human Genetics, Research Institute at Nationwide Children s Hospital, Columbus, Ohio 43205, USA
    Autism Res 3:137-41. 2010

Collaborators

Detail Information

Publications19

  1. ncbi request reprint X-Linked dominant disorders of cholesterol biosynthesis in man and mouse
    G E Herman
    Children s Research Institute and Department of Pediatrics, Ohio State University, 700 Children s Dr Rm W403, Columbus, OH 43205, USA
    Biochim Biophys Acta 1529:357-73. 2000
    ..Finally, speculations about possible mechanisms of pathogenesis will be provided...
  2. ncbi request reprint Characterization of mutations in fifty North American patients with X-linked myotubular myopathy
    Gail E Herman
    Children s Research Institute and The Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA
    Hum Mutat 19:114-21. 2002
    ..Clinical information collected on the majority of patients helps to further correlate genotype with phenotype, and implications of these data for genetic counseling in families are discussed...
  3. ncbi request reprint Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes
    Gail E Herman
    Center for Molecular and Human Genetics, Columbus Children s Research Institute and Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA
    Hum Mol Genet 12:R75-88. 2003
    ..In this review, an overview of the cholesterol biosynthetic pathway will be presented. Clinical features of the human disorders and mouse models of post-squalene cholesterol biosynthesis will then be discussed...
  4. ncbi request reprint The role of ZIC3 in vertebrate development
    G E Herman
    Center for Molecular and Human Genetics, Columbus Children s Research Institute and Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA
    Cytogenet Genome Res 99:229-35. 2002
    ..In addition, a comparison of ZIC3 with other vertebrate ZIC family members will be provided...
  5. ncbi request reprint The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase
    X Y Liu
    Children s Hospital Research Foundation and Department of Pediatrics, The Ohio State University, Columbus 43205, USA
    Nat Genet 22:182-7. 1999
    ..They also expand the spectrum of phenotypes associated with abnormalities of cholesterol metabolism...
  6. ncbi request reprint Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts
    David Cunningham
    Center for Molecular and Human Genetics, Columbus Children s Research Institute, Ohio State University, Columbus, OH, USA
    J Lipid Res 46:1150-62. 2005
    ..Of the 21 remaining genes, 16 are known genes, some of which have been implicated previously in cholesterol homeostasis or lipid-mediated signaling, and 5 are uncharacterized cDNA clones...
  7. pmc Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos
    David Cunningham
    Department of Pediatrics, The Research Institute at Nationwide Children s Hospital, The Ohio State University, Columbus, OH 43205, USA
    Hum Mol Genet 19:364-73. 2010
    ..283 mm(2); P = 0.024). These data demonstrate significant effects of the mother and fetal membranes on pregnancy outcome, with possible implications for cholesterol homeostasis during human pregnancy...
  8. pmc Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse
    David Cunningham
    The Research Institute at Nationwide Children s Hospital, Columbus, OH 43205, USA
    Mol Genet Metab 98:356-66. 2009
    ..Our results suggest that while NSDHL-deficient cells in the mosaic Bpa(1H) female are able to survive and differentiate during embryonic development, they are subject to negative selection over the life of the animal...
  9. ncbi request reprint Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast
    Marsha E Lucas
    Department of Pediatrics, Center for Molecular and Human Genetics, Columbus Children s Research Institute, 700 Children s Dr Rm W403, Columbus, OH 43205, USA
    Mol Genet Metab 80:227-33. 2003
    ..Using this in vivo assay, we have demonstrated that two Str alleles function as hypomorphs, while three Bpa and one Str allele provide no complementation or rescue...
  10. doi request reprint Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly
    Kim L McBride
    Center for Molecular and Human Genetics, Research Institute at Nationwide Children s Hospital, Columbus, Ohio 43205, USA
    Autism Res 3:137-41. 2010
    ..We recommend testing for mutations in PTEN for individuals with ASD or MR/DD and macrocephaly. If mutations are found, other family members should be offered testing and the adults offered cancer screening if they have a PTEN mutation...
  11. ncbi request reprint Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome)
    Gail E Herman
    Children s Research Institute and Department of Pediatrics, The Ohio State University, Columbus, Ohio 43205, USA
    Genet Med 4:434-8. 2002
    ..The purpose of the current study was to determine the spectrum of EBP mutations in females with CDPX2 and the utility of biochemical screening for the disorder by analysis of plasma sterols...
  12. ncbi request reprint NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets
    Hugo Caldas
    Center for Molecular and Human Genetics, Columbus Children s Research Institute, 700 Children s Drive, Columbus, OH 43205, USA
    Hum Mol Genet 12:2981-91. 2003
    ..The dual localization of NSDHL within ER membranes and on the surface of lipid droplets may provide another mechanism for regulation of the levels and sites of accumulation of intracellular cholesterol...
  13. ncbi request reprint Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme
    Hugo Caldas
    Center for Molecular and Human Genetics, Columbus Children s Research Institute, The Ohio State University, Columbus, OH 43205, USA
    Mol Genet Metab 84:48-60. 2005
    ....
  14. ncbi request reprint exma: an X-linked insertional mutation that disrupts forebrain and eye development
    David Cunningham
    Division of Human and Molecular Genetics, Dept of Pediatrics and Children s Research Institute, The Ohio State University, Children s Research Institute, 700 Children s Drive, Rm 403, Columbus, Ohio 43205, USA
    Mamm Genome 13:179-85. 2002
    ..From the physical mapping results, we propose a model of the gross rearrangements that accompanied transgene integration and discuss its implications for evaluating candidate genes for exma...
  15. ncbi request reprint Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly
    Gail E Herman
    Center for Molecular and Human Genetics, Columbus Children Research Institute, The Ohio State University, Columbus, Ohio, USA
    Am J Med Genet A 143:589-93. 2007
    ..Our findings extend those of Butler et al. and suggest that PTEN gene sequencing should be included in the genetic evaluation of this subset of autistic individuals...
  16. ncbi request reprint Mouse models of human disease: lessons learned and promises to come
    Gail E Herman
    Children s Research Institute and Division of Molecualr and Human Genetics, Department of Pediatrics, The Ohio State University, Columbus, OH, USA
    ILAR J 43:55-6. 2002
  17. ncbi request reprint Pbx1 and Meis1 regulate activity of the Xenopus laevis Zic3 promoter through a highly conserved region
    Lisa E Kelly
    Center for Molecular and Human Genetics, Columbus Children s Research Institute, The Ohio State University, Columbus, OH 43205, USA
    Biochem Biophys Res Commun 344:1031-7. 2006
    ..Our data strongly suggest that a highly conserved region of the Zic3 promoter functions by direct interaction with Pbx1b and Meis1...
  18. ncbi request reprint Exclusion of mutations in the MTMR1 gene as a frequent cause of X-linked myotubular myopathy
    LaRae M Copley
    Am J Med Genet 107:256-8. 2002
  19. ncbi request reprint Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene
    Marybeth Hummel
    Department of Pediatrics, West Virginia University School of Medicine, Morgantown, WV, USA
    Am J Med Genet A 122:246-51. 2003
    ..This result demonstrates that both right- and left-sided CHILD syndrome can be caused by mutations in the same gene...