CATHERINE ELIZABETH KEEGAN
Affiliation: University of Michigan
- Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expressionChristopher 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...
- Mouse knockout solves endocrine puzzle and promotes new pituitary lineage modelCatherine E Keegan
Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109 0638, USA
Genes Dev 17:677-82. 2003
- Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromesCatherine 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...
- IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD geneJanna 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...
- Recent insights into organogenesis of the adrenal cortexCatherine 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...
- Tpp1/Acd maintains genomic stability through a complex role in telomere protectionTobias 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...
- Caudal regression in adrenocortical dysplasia (acd) mice is caused by telomere dysfunction with subsequent p53-dependent apoptosisChristopher 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...
- Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulatorCatherine 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...
- The acd mouse: a model for congenital adrenal hypoplasiaCatherine 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. ..