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Genomes and Genes | G E HermanSummaryAffiliation: The Ohio State University Country: USA Publications
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Publications
X-Linked dominant disorders of cholesterol biosynthesis in man and mouseG 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...- Characterization of mutations in fifty North American patients with X-linked myotubular myopathyGail 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... - Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromesGail 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... - The role of ZIC3 in vertebrate developmentG 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... - The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenaseX 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... - Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblastsDavid 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... - Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryosDavid 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... - Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouseDavid 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... - Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeastMarsha 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... - Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephalyKim 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... - 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..No clear genotype/phenotype correlations were ascertained, probably because phenotypic expression is influenced substantially by the pattern of X-inactivation in an affected female... - NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid dropletsHugo 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... - Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) EnzymeHugo 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.... - exma: an X-linked insertional mutation that disrupts forebrain and eye developmentDavid 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... - Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephalyGail 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... - Mouse models of human disease: lessons learned and promises to comeGail 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 - Pbx1 and Meis1 regulate activity of the Xenopus laevis Zic3 promoter through a highly conserved regionLisa 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... - Exclusion of mutations in the MTMR1 gene as a frequent cause of X-linked myotubular myopathyLaRae M Copley
Am J Med Genet 107:256-8. 2002 - Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL geneMarybeth 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...