CATHERINE ELIZABETH KEEGAN

Summary

Affiliation: University of Michigan
Country: USA

Publications

  1. pmc Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression
    Christopher N Vlangos
    Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, United States of America
    PLoS Genet 9:e1003205. 2013
  2. ncbi request reprint Mouse knockout solves endocrine puzzle and promotes new pituitary lineage model
    Catherine E Keegan
    Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109 0638, USA
    Genes Dev 17:677-82. 2003
  3. ncbi request reprint Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes
    Catherine E Keegan
    Department of Pediatrics, Division of Genetics, University of Michigan Medical School, 1150 W Medical Center Drive, Ann Arbor, MI 48109, USA
    Clin Endocrinol (Oxf) 67:168-74. 2007
  4. ncbi request reprint IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene
    Janna E Hutz
    Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, MI, USA
    Mol Genet Metab 88:66-70. 2006
  5. ncbi request reprint Recent insights into organogenesis of the adrenal cortex
    Catherine E Keegan
    Dept Pediatrics, Division of Genetics, University of Michigan Medical School, 5552 MSRB II, 1150 West Medical Center Drive, Ann Arbor, MI 48109 0678, USA
    Trends Endocrinol Metab 13:200-8. 2002
  6. doi request reprint Tpp1/Acd maintains genomic stability through a complex role in telomere protection
    Tobias Else
    Department of Internal Medicine, Division of Endocrinology and Metabolism, The University of Michigan, Ann Arbor, MI 48109, USA
    Chromosome Res 15:1001-13. 2007
  7. pmc Caudal regression in adrenocortical dysplasia (acd) mice is caused by telomere dysfunction with subsequent p53-dependent apoptosis
    Christopher N Vlangos
    Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA
    Dev Biol 334:418-28. 2009
  8. ncbi request reprint Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator
    Catherine E Keegan
    Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, MI 48109 0789, USA
    Hum Mol Genet 14:113-23. 2005

Research Grants

  1. The acd mouse: a model for congenital adrenal hypoplasia
    Catherine Keegan; Fiscal Year: 2006
  2. Mouse models of genomic instability and birth defects
    Catherine Keegan; Fiscal Year: 2009
  3. Mouse models of genomic instability and birth defects
    CATHERINE ELIZABETH KEEGAN; Fiscal Year: 2010
  4. Mouse models of genomic instability and birth defects
    CATHERINE ELIZABETH KEEGAN; Fiscal Year: 2010

Collaborators

Detail Information

Publications8

  1. pmc Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression
    Christopher N Vlangos
    Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, United States of America
    PLoS Genet 9:e1003205. 2013
    ..5. The identification of the Sd mutation will lead to improved understanding of the developmental pathways that are misregulated in human caudal malformation syndromes...
  2. ncbi request reprint Mouse knockout solves endocrine puzzle and promotes new pituitary lineage model
    Catherine E Keegan
    Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109 0638, USA
    Genes Dev 17:677-82. 2003
  3. ncbi request reprint Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes
    Catherine E Keegan
    Department of Pediatrics, Division of Genetics, University of Michigan Medical School, 1150 W Medical Center Drive, Ann Arbor, MI 48109, USA
    Clin Endocrinol (Oxf) 67:168-74. 2007
    ..The human homolog of the Acd gene, mutated in a mouse model of adrenal insufficiency, was sequenced in 25 patients with a clinical diagnosis of familial glucocorticoid deficiency or triple A syndrome...
  4. ncbi request reprint IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene
    Janna E Hutz
    Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, MI, USA
    Mol Genet Metab 88:66-70. 2006
    ..Sequencing of ACD in 15 patients revealed no coding mutations, but three novel SNPs were identified...
  5. ncbi request reprint Recent insights into organogenesis of the adrenal cortex
    Catherine E Keegan
    Dept Pediatrics, Division of Genetics, University of Michigan Medical School, 5552 MSRB II, 1150 West Medical Center Drive, Ann Arbor, MI 48109 0678, USA
    Trends Endocrinol Metab 13:200-8. 2002
    ..Here, we outline the developmental milestones of the adrenal cortex with recent contributions to the field, focusing on factors that have been shown to play a role in vivo in humans and mice...
  6. doi request reprint Tpp1/Acd maintains genomic stability through a complex role in telomere protection
    Tobias Else
    Department of Internal Medicine, Division of Endocrinology and Metabolism, The University of Michigan, Ann Arbor, MI 48109, USA
    Chromosome Res 15:1001-13. 2007
    ..Together, these studies show that Tpp1/Acd plays a vital role in telomere protection, but likely has additional functions yet to be defined...
  7. pmc Caudal regression in adrenocortical dysplasia (acd) mice is caused by telomere dysfunction with subsequent p53-dependent apoptosis
    Christopher N Vlangos
    Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA
    Dev Biol 334:418-28. 2009
    ..These findings demonstrate that caudal dysgenesis in acd embryos is secondary to p53-dependent apoptosis. Importantly, this study reinforces a significant link between genomic instability and birth defects...
  8. ncbi request reprint Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator
    Catherine E Keegan
    Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, MI 48109 0789, USA
    Hum Mol Genet 14:113-23. 2005
    ..This is the first report to show that a telomeric regulator is required for proper urogenital ridge differentiation, axial skeleton specification and limb patterning in mice...

Research Grants4

  1. The acd mouse: a model for congenital adrenal hypoplasia
    Catherine Keegan; Fiscal Year: 2006
    ..Ultimately, through this additional training I will be poised to continue my long-term career goal of becoming an Independent Investigator. ..
  2. Mouse models of genomic instability and birth defects
    Catherine Keegan; Fiscal Year: 2009
    ....
  3. Mouse models of genomic instability and birth defects
    CATHERINE ELIZABETH KEEGAN; Fiscal Year: 2010
    ....
  4. Mouse models of genomic instability and birth defects
    CATHERINE ELIZABETH KEEGAN; Fiscal Year: 2010
    ....