STEPHANIE WARE

Summary

Affiliation: Cincinnati Children's Hospital Medical Center
Country: USA

Publications

  1. ncbi request reprint Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain
    S M Ware
    Department of Molecular Cardiovascular Biology, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    Clin Genet 73:165-70. 2008
  2. pmc Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease
    James E J Bedard
    Department of Pediatrics, Cincinnati Children s Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America
    PLoS ONE 6:e23755. 2011
  3. pmc SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing
    Muhammad Tariq
    Division of Molecular Cardiovascular Biology, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
    Genome Biol 12:R91. 2011
  4. pmc Spectrum of clinical diseases caused by disorders of primary cilia
    Stephanie M Ware
    Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45244, USA
    Proc Am Thorac Soc 8:444-50. 2011
  5. doi request reprint Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes
    S M Ware
    Division of Molecular Cardiovascular Biology, Cincinnati Children s Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, Ohio, USA
    J Med Genet 46:308-14. 2009
  6. ncbi request reprint Zic3 is critical for early embryonic patterning during gastrulation
    Stephanie M Ware
    Department of Pediatrics, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA
    Dev Dyn 235:776-85. 2006
  7. pmc A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation
    Robert B Hinton
    Division of Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    J Pediatr 157:164-6. 2010
  8. ncbi request reprint Heart defects in X-linked heterotaxy: evidence for a genetic interaction of Zic3 with the nodal signaling pathway
    Stephanie M Ware
    Cincinnati Children s Hospital Medical Center and University of Cincinnati College of Medicine, Department of Pediatrics, Cincinnati, Ohio, USA
    Dev Dyn 235:1631-7. 2006
  9. ncbi request reprint Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3
    James E J Bedard
    Department of Pediatrics, Cincinnati Children s Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA
    Hum Mol Genet 16:187-98. 2007
  10. ncbi request reprint DNA mutation analysis in heterotaxy
    Stephanie M Ware
    Division of Molecular Cardiovascular Biology, Department of Pediatrics, Cincinnati Children s Hospital Medical Center, OH, USA
    Methods Mol Med 126:247-56. 2006

Collaborators

Detail Information

Publications18

  1. ncbi request reprint Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain
    S M Ware
    Department of Molecular Cardiovascular Biology, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    Clin Genet 73:165-70. 2008
    ..Identification of the genetic basis of pediatric cardiomyopathy has important implications for management and genetic counseling...
  2. pmc Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease
    James E J Bedard
    Department of Pediatrics, Cincinnati Children s Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America
    PLoS ONE 6:e23755. 2011
    ..Screening 109 familial and sporadic male heterotaxy cases did not identify pathogenic mutations in the newly identified fourth exon and larger studies are necessary to establish the importance of the novel isoform in human disease...
  3. pmc SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing
    Muhammad Tariq
    Division of Molecular Cardiovascular Biology, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
    Genome Biol 12:R91. 2011
    ..In this study, high-resolution SNP genotyping and exon-targeted array comparative genomic hybridization platforms were coupled to whole-exome sequencing to identify a novel disease candidate gene...
  4. pmc Spectrum of clinical diseases caused by disorders of primary cilia
    Stephanie M Ware
    Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45244, USA
    Proc Am Thorac Soc 8:444-50. 2011
    ..Increased understanding of ciliary biology will improve the diagnosis and management of primary ciliary dyskinesia, syndromic ciliopathies, and cilia-related cystic diseases...
  5. doi request reprint Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes
    S M Ware
    Division of Molecular Cardiovascular Biology, Cincinnati Children s Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, Ohio, USA
    J Med Genet 46:308-14. 2009
    ..Infantile cardiomyopathy is a genetically heterogeneous disorder with significant morbidity and mortality...
  6. ncbi request reprint Zic3 is critical for early embryonic patterning during gastrulation
    Stephanie M Ware
    Department of Pediatrics, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA
    Dev Dyn 235:776-85. 2006
    ..At later stages, deficiency of Zic3 results in abnormal mesoderm allocation. These results indicate a requirement for Zic3 during early embryogenesis prior to cardiac and visceral organ patterning...
  7. pmc A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation
    Robert B Hinton
    Division of Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    J Pediatr 157:164-6. 2010
    ..We describe a patient with a pathogenic familial beta-myosin heavy chain mutation who was prenatally diagnosed with left ventricular hypoplasia and restrictive diastolic physiology...
  8. ncbi request reprint Heart defects in X-linked heterotaxy: evidence for a genetic interaction of Zic3 with the nodal signaling pathway
    Stephanie M Ware
    Cincinnati Children s Hospital Medical Center and University of Cincinnati College of Medicine, Department of Pediatrics, Cincinnati, Ohio, USA
    Dev Dyn 235:1631-7. 2006
    ..These studies provide evidence that Zic3 interacts genetically with Nodal in left-right patterning and subsequent cardiac development and delineate a critical Zic3-responsive enhancer required for mediating Nodal expression at the node...
  9. ncbi request reprint Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3
    James E J Bedard
    Department of Pediatrics, Cincinnati Children s Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA
    Hum Mol Genet 16:187-98. 2007
    ....
  10. ncbi request reprint DNA mutation analysis in heterotaxy
    Stephanie M Ware
    Division of Molecular Cardiovascular Biology, Department of Pediatrics, Cincinnati Children s Hospital Medical Center, OH, USA
    Methods Mol Med 126:247-56. 2006
    ..These techniques are applicable to any gene of interest and will be useful for further evaluation of candidate genes for heterotaxy...
  11. pmc Use of FOXJ1CreER2T mice for inducible deletion of embryonic node gene expression
    Shuyun Wang
    Department of Pediatrics, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA
    Genesis 47:132-6. 2009
    ..FOXJ1CreER(2T) transgenic mice represent a new genetic tool for the analysis of node-specific gene expression and will also be valuable in the study of node cell lineage and temporal cell fate mapping...
  12. doi request reprint Disorders of left-right asymmetry: heterotaxy and situs inversus
    Mardi J Sutherland
    Divisions of Molecular Cardiovascular Biology, Human Genetics, and Cardiology at Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    Am J Med Genet C Semin Med Genet 151:307-17. 2009
    ..This review focuses on the clinical manifestations, molecular mechanisms, and human genetics of these disorders of laterality...
  13. ncbi request reprint The Vg1-related protein Gdf3 acts in a Nodal signaling pathway in the pre-gastrulation mouse embryo
    Canhe Chen
    Center for Advanced Biotechnology and Medicine and Department of Pediatrics, University of Medicine and Dentistry of New Jersey Robert Wood Johnson Medical School, Piscataway, NJ 08854, USA
    Development 133:319-29. 2006
    ..Our findings indicate that Gdf3 acts in a Nodal-like signaling pathway in pre-gastrulation development, and provide evidence for the functional conservation of Vg1 activity in mice...
  14. pmc Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects
    Stephanie M Ware
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 74:93-105. 2004
    ..These results further expand the phenotypic and genotypic spectrum of ZIC3 mutations and provide initial mechanistic insight into their functional consequences...
  15. ncbi request reprint A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice
    Smita M Purandare
    Department of Pathology, Baylor College of Medicine, Houston, TX 77030, USA
    Development 129:2293-302. 2002
    ..The phenotype of these mice correctly models the defects found in human HTX1 and indicates an important role for Zic3 in both left-right and axial patterning...
  16. ncbi request reprint Genetics of human heterotaxias
    Lirong Zhu
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Eur J Hum Genet 14:17-25. 2006
    ..Here, we review the distinctive clinical features of human heterotaxias and try to summarize the known connections between them and the corresponding developmental pathways...
  17. ncbi request reprint Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Pediatrics 114:925-31. 2004
    ..The aim of this study was to elucidate the frequency of major clinical manifestations in children with mitochondrial disease and establish their clinical course, prognosis, and rates of survival depending on their clinical features...
  18. ncbi request reprint Molecular genetics of heterotaxy syndromes
    John W Belmont
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Curr Opin Cardiol 19:216-20. 2004
    ....

Research Grants6

  1. Zic3 and the Control of Body Pattern Formation
    STEPHANIE WARE; Fiscal Year: 2005
    ..Through a combination of supervised research, scientific interchange, and selected coursework within this environment, the candidate will obtain the training necessary to transition to an independent investigator. ..
  2. Role of the Embryonic Node in Cardiac Development and Congenital Heart Disease
    STEPHANIE WARE; Fiscal Year: 2007
    ..These studies have the potential to identify molecular and genetic pathways contributing to cardiac development and will develop novel tools to dissect mechanisms underlying congenital heart disease. ..
  3. Role of the Embryonic Node in Cardiac Development and Congenital Heart Disease
    STEPHANIE WARE; Fiscal Year: 2009
    ..These studies have the potential to identify molecular and genetic pathways contributing to cardiac development and will develop novel tools to dissect mechanisms underlying congenital heart disease. ..
  4. Role of the Embryonic Node in Cardiac Development and Congenital Heart Disease
    Stephanie M Ware; Fiscal Year: 2010
    ..These studies have the potential to identify molecular and genetic pathways contributing to cardiac development and will develop novel tools to dissect mechanisms underlying congenital heart disease. ..
  5. Role of the Embryonic Node in Cardiac Development and Congenital Heart Disease
    STEPHANIE WARE; Fiscal Year: 2009
    ..These studies have the potential to identify molecular and genetic pathways contributing to cardiac development and will develop novel tools to dissect mechanisms underlying congenital heart disease. ..