KATHERINE ANNA RAUEN

Summary

Affiliation: University of California
Country: USA

Publications

  1. ncbi Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype
    Katherine A Rauen
    Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, California, USA
    Am J Med Genet A 140:1681-3. 2006
  2. ncbi HRAS and the Costello syndrome
    K A Rauen
    Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, CA 94115, USA
    Clin Genet 71:101-8. 2007
  3. ncbi Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007
    Katherine A Rauen
    Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, California, USA
    Am J Med Genet A 146:1205-17. 2008
  4. ncbi Expression of the coxsackievirus- and adenovirus receptor in gastrointestinal cancer correlates with tumor differentiation
    W M Korn
    Division of Gastroenterology, Department of Medicine, University of California San Francisco, San Francisco, CA 94143, USA
    Cancer Gene Ther 13:792-7. 2006
  5. ncbi Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes
    M Tartaglia
    Department of Pediatrics, Mount Sinai School of Medicine, New York, New York, USA
    Clin Genet 63:423-6. 2003
  6. ncbi Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH
    O D Klein
    Department of Pediatrics, University of California San Francisco, San Francisco, CA 94115, USA
    Clin Genet 71:260-6. 2007
  7. ncbi Disruption of 3D tissue integrity facilitates adenovirus infection by deregulating the coxsackievirus and adenovirus receptor
    M Anders
    Cancer Research Institute, Comprehensive Cancer Center, University of California, San Francisco, CA 94143, USA
    Proc Natl Acad Sci U S A 100:1943-8. 2003

Research Grants

  1. Elucidation of the genetic etiology of Costello Syndrome
    KATHERINE RAUEN; Fiscal Year: 2007
  2. 1st Costello Syndrome Symposium
    KATHERINE RAUEN; Fiscal Year: 2007

Detail Information

Publications7

  1. ncbi Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype
    Katherine A Rauen
    Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, California, USA
    Am J Med Genet A 140:1681-3. 2006
  2. ncbi HRAS and the Costello syndrome
    K A Rauen
    Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, CA 94115, USA
    Clin Genet 71:101-8. 2007
    ..Understanding the genetic etiology of CS is the first step in gaining insight to the role Ras plays in human development, cellular signaling and cancer pathogenesis...
  3. ncbi Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007
    Katherine A Rauen
    Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, California, USA
    Am J Med Genet A 146:1205-17. 2008
  4. ncbi Expression of the coxsackievirus- and adenovirus receptor in gastrointestinal cancer correlates with tumor differentiation
    W M Korn
    Division of Gastroenterology, Department of Medicine, University of California San Francisco, San Francisco, CA 94143, USA
    Cancer Gene Ther 13:792-7. 2006
    ..These data indicate that CAR expression is frequently altered in gastrointestinal malignancy, potentially reducing the efficacy of adenovirus-based therapies...
  5. ncbi Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes
    M Tartaglia
    Department of Pediatrics, Mount Sinai School of Medicine, New York, New York, USA
    Clin Genet 63:423-6. 2003
    ..With our previous exclusion of PTPN11 mutations in CFC syndrome, these data suggest distinct genetic etiologies for Noonan, CFC and Costello syndromes...
  6. ncbi Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH
    O D Klein
    Department of Pediatrics, University of California San Francisco, San Francisco, CA 94115, USA
    Clin Genet 71:260-6. 2007
    ..All three cases described here showed loss of paternal alleles within the deleted segment, providing further evidence of the predominantly paternal origin for 6q deletions and rearrangements...
  7. ncbi Disruption of 3D tissue integrity facilitates adenovirus infection by deregulating the coxsackievirus and adenovirus receptor
    M Anders
    Cancer Research Institute, Comprehensive Cancer Center, University of California, San Francisco, CA 94143, USA
    Proc Natl Acad Sci U S A 100:1943-8. 2003
    ..Disruption of this organization by changes in the microenvironment, including malignant transformation, leads to up-regulation of CAR, thus enhancing the cell's susceptibility to adenovirus infection...

Research Grants3

  1. Elucidation of the genetic etiology of Costello Syndrome
    KATHERINE RAUEN; Fiscal Year: 2007
    ..Furthermore, information gained from this study will increase our understanding of common pediatric issues such as congenital cardiac anomalies and neurodevelopmental delay. ..
  2. 1st Costello Syndrome Symposium
    KATHERINE RAUEN; Fiscal Year: 2007
    ..Special attention will be paid to the involvement of junior investigators, trainees (medical/graduate students, post docs and fellows) and clinicians and scientists from underrepresented communities. ..