Katherine A Rauen

Summary

Affiliation: University of California
Country: USA

Publications

  1. ncbi request reprint The RASopathies
    Katherine A Rauen
    Department of Pediatrics, Division of Medical Genetics, and Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, California 94115 email
    Annu Rev Genomics Hum Genet 14:355-69. 2013
  2. doi request reprint Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations
    Katherine A Rauen
    Department of Pediatrics, University of California San Francisco, San Francisco, California 94115, USA
    Am J Med Genet A 152:807-14. 2010
  3. doi request reprint Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies
    Katherine A Rauen
    Division of Medical Genetics at the University of California at San Francisco, USA
    Am J Med Genet C Semin Med Genet 157:136-46. 2011
  4. ncbi request reprint Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back
    Katherine A Rauen
    University of California San Francisco, San Francisco, California, USA
    Am J Med Genet A 152:4-24. 2010
  5. doi request reprint Mutational and functional analysis in human Ras/MAP kinase genetic syndromes
    William E Tidyman
    Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, San Francisco, CA, USA
    Methods Mol Biol 661:433-47. 2010
  6. doi request reprint Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome
    Pablo Rodriguez-Viciana
    UCSF Helen Diller Family, Comprehensive Cancer Center and Cancer Research Institute, University of California, San Francisco, California, USA
    Methods Enzymol 438:277-89. 2008
  7. ncbi request reprint Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options
    Thanaset Senawong
    Department of Pathology, School of Medicine, University of California, San Francisco, CA 94143 0128, USA
    Hum Mol Genet 17:419-30. 2008
  8. ncbi request reprint Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
    Pablo Rodriguez-Viciana
    Comprehensive Cancer Center and Cancer Research Institute, University of California, San Francisco, CA 94115, USA
    Science 311:1287-90. 2006
  9. ncbi request reprint HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy
    Anne L Estep
    Comprehensive Cancer Center, Cancer Research Institute, University of California San Francisco, 2340 Sutter Street, San Francisco, CA 94115, USA
    Am J Med Genet A 140:8-16. 2006
  10. doi request reprint Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway
    William E Tidyman
    Department of Anatomy, University of California San Francisco, CA 94115, USA
    Expert Rev Mol Med 10:e37. 2008

Collaborators

Detail Information

Publications30

  1. ncbi request reprint The RASopathies
    Katherine A Rauen
    Department of Pediatrics, Division of Medical Genetics, and Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, California 94115 email
    Annu Rev Genomics Hum Genet 14:355-69. 2013
    ..The use of these molecules to ameliorate developmental defects in the RASopathies is under consideration. ..
  2. doi request reprint Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations
    Katherine A Rauen
    Department of Pediatrics, University of California San Francisco, San Francisco, California 94115, USA
    Am J Med Genet A 152:807-14. 2010
    ..This first reported case of a vertically transmitted functional CFC MEK mutation further expands our understanding of germline mutations within the Ras/MAPK pathway...
  3. doi request reprint Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies
    Katherine A Rauen
    Division of Medical Genetics at the University of California at San Francisco, USA
    Am J Med Genet C Semin Med Genet 157:136-46. 2011
    ..CS and CFC, like other syndromes in their class, have a progressive phenotype and may be amenable to inhibition or normalization of signaling...
  4. ncbi request reprint Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back
    Katherine A Rauen
    University of California San Francisco, San Francisco, California, USA
    Am J Med Genet A 152:4-24. 2010
    ....
  5. doi request reprint Mutational and functional analysis in human Ras/MAP kinase genetic syndromes
    William E Tidyman
    Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, San Francisco, CA, USA
    Methods Mol Biol 661:433-47. 2010
    ....
  6. doi request reprint Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome
    Pablo Rodriguez-Viciana
    UCSF Helen Diller Family, Comprehensive Cancer Center and Cancer Research Institute, University of California, San Francisco, California, USA
    Methods Enzymol 438:277-89. 2008
    ..Since the MAPK pathway has been studied intensively in the context of cancer, numerous therapeutics that specifically target this pathway may merit investigation in this population of patients...
  7. ncbi request reprint Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options
    Thanaset Senawong
    Department of Pathology, School of Medicine, University of California, San Francisco, CA 94143 0128, USA
    Hum Mol Genet 17:419-30. 2008
    ..Thus, regardless of mutations identified in an individual with CFC, MEK inhibition is a potential therapeutic approach for this population...
  8. ncbi request reprint Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
    Pablo Rodriguez-Viciana
    Comprehensive Cancer Center and Cancer Research Institute, University of California, San Francisco, CA 94115, USA
    Science 311:1287-90. 2006
    ..Our findings highlight the involvement of the MAPK pathway in human development and will provide a molecular diagnosis of CFC syndrome...
  9. ncbi request reprint HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy
    Anne L Estep
    Comprehensive Cancer Center, Cancer Research Institute, University of California San Francisco, 2340 Sutter Street, San Francisco, CA 94115, USA
    Am J Med Genet A 140:8-16. 2006
    ..No mutations were found which support a distinct genetic etiology between CS and CFC syndromes...
  10. doi request reprint Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway
    William E Tidyman
    Department of Anatomy, University of California San Francisco, CA 94115, USA
    Expert Rev Mol Med 10:e37. 2008
    ..Here we review the clinical consequences of the known molecular lesions associated with Noonan syndrome, Costello syndrome and cardio-facio-cutaneous syndrome, and explore possible therapeutic modalities for treatment...
  11. doi request reprint 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
  12. doi request reprint Peripheral muscle weakness in RASopathies
    David A Stevenson
    University of Utah, Division of Medical Genetics, 2C412 SOM, Salt Lake City, Utah 84132, USA
    Muscle Nerve 46:394-9. 2012
    ..Neurocutaneous findings are hallmark features of the RASopathies, but musculoskeletal abnormalities are also frequent. The objective was to evaluate handgrip strength in the RASopathies...
  13. ncbi request reprint Neurological complications of cardio-facio-cutaneous syndrome
    Grace Yoon
    Department of Pediatrics, Division of Medical Genetics, The Hospital for Sick Children, University of Toronto, Canada
    Dev Med Child Neurol 49:894-9. 2007
    ..Seizures were present in 15 participants. No specific genotype-phenotype correlation was observed...
  14. pmc Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy
    Anne L Estep
    Comprehensive Cancer Center and Cancer Research Institute, University of California at San Francisco, San Francisco, California, United States of America
    PLoS ONE 2:e1279. 2007
    ..An understanding of the genetic basis of ovarian cancer has implications both for early detection and for therapeutic intervention in this population of patients...
  15. ncbi request reprint 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
  16. ncbi request reprint Ring chromosome 15: characterization by array CGH
    Ian A Glass
    Department of Pediatrics, University of Washington, M2 9, 4800 Sand Point Way NE, Seattle, 98105, USA
    Hum Genet 118:611-7. 2006
    ..These cases illustrate the utility of array CGH characterization for determining the size of the associated deletion in ring chromosomes and for facilitating phenotype-genotype correlations...
  17. ncbi request reprint Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect
    Jennifer Takagishi
    Department of Pediatrics, Division of General Pediatrics, University of South Florida, Tampa, USA
    Am J Med Genet A 140:1587-93. 2006
    ..Our data show that the 3p25 deletion syndrome may, therefore, reflect a much broader phenotypic spectrum than previously recognized...
  18. ncbi request reprint Duplication of distal 20q: clinical, cytogenetic and array CGH. Characterization of a new case
    Alejandro Iglesias
    Division of Genetics, Department of Pediatrics, Beth Israel Medical Center, New York, and Division of Medical Genetics, Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, USA
    Clin Dysmorphol 15:19-23. 2006
    ..This case further highlights the utility of array CGH in characterizing aneusomies and, in particular, for accurate breakpoint designation and quantitation of ambiguous rearrangements...
  19. ncbi request reprint Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review
    Sabrina F Cheng
    Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, San Francisco, California, USA
    Am J Med Genet A 135:308-13. 2005
    ..Mental, psychomotor and growth retardation, as well as, craniofacial anomalies, muscle hypotonia, hypoplastic genitalia, cryptorchidism, feeding difficulties, and endocrine dysfunction are all significant issues in these individuals...
  20. ncbi request reprint Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization
    Ophir D Klein
    Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, San Francisco, California 94115, USA
    Am J Med Genet A 138:349-54. 2005
    ....
  21. ncbi request reprint Detection of single clone deletions using array CGH: identification of submicroscopic deletions in the 22q11.2 deletion syndrome as a model system
    Taku A Tokuyasu
    Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA 94115, USA
    Am J Med Genet A 143:925-32. 2007
    ..We demonstrate that such technology is ideally suited for microdeletion syndromes such as 22q11.2...
  22. pmc The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
    William E Tidyman
    Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, CA 94115, USA
    Curr Opin Genet Dev 19:230-6. 2009
    ..Here we review the clinical and underlying molecular basis for each of these syndromes...
  23. doi request reprint Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation
    Emily Chen
    Department of Genetics, Kaiser Medical Center, San Jose, California, USA
    Am J Med Genet A 146:2785-90. 2008
    ....
  24. ncbi request reprint Expression of the coxsackie adenovirus receptor in normal prostate and in primary and metastatic prostate carcinoma: potential relevance to gene therapy
    Katherine A Rauen
    Department of Pediatrics, University of California, San Francisco, California 94115, USA
    Cancer Res 62:3812-8. 2002
    ..Adenovirus therapy may, therefore, provide an alternate modality in the treatment of prostate cancer and may be especially efficacious in the treatment of metastatic disease...
  25. ncbi request reprint Ring 21 chromosome and a satellited 1p in the same patient: novel origin for an ectopic NOR
    Anita Ki
    Division of Medical Genetics and Department of Pathology, Children s Hospital and Research Center, Oakland, California, USA
    Am J Med Genet A 120:365-9. 2003
    ..This represents a novel mechanism for the origin of ectopic NORs. In addition, this study illustrates the importance of FISH analysis with telomeric and subtelomeric probes for characterization of chromosomes with ectopic NORs...
  26. doi request reprint Lipodermoid in a patient with Emanuel syndrome
    Tanya S Glaser
    Department of Ophthalmology, University of California San Francisco, San Francisco, California, USA
    J AAPOS 17:211-3. 2013
    ..Correct identification of patients with Emanuel syndrome is important for determining whether there is risk of long-term neurodevelopmental disability, and genetic testing can determine parental carrier status to aid in family planning...
  27. ncbi request reprint Juvenile myelomonocytic leukemia in a 16-year-old with Noonan syndrome: case report
    Michael Vincent Ortiz
    Department of Pediatrics, Children s National Medical Center, Washington, DC, USA
    J Pediatr Hematol Oncol 34:569-72. 2012
    ..Clinicians should have high index of suspicion for JMML in patients with Noonan features, regardless of a patient's age...
  28. ncbi request reprint Fertility in a female with mosaic trisomy 8
    Katherine A Rauen
    Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA
    Fertil Steril 79:206-8. 2003
    ..To describe the first term pregnancy in a patient with the characteristic features of trisomy 8 mosaicism...
  29. ncbi request reprint Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome?
    Katherine A Rauen
    Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA
    Am J Med Genet 110:51-6. 2002
    ..The region 12q21.2 --> q22 remains a possible candidate region for CFC syndrome. Additional characterization of these and other CFC patients may confirm and further refine this candidate region...
  30. ncbi request reprint Craniofacial and dental development in Costello syndrome
    Alice F Goodwin
    Program in Craniofacial and Mesenchymal Biology, and Division of Craniofacial Anomalies, Department of Orofacial Sciences, University of California San Francisco, San Francisco, California
    Am J Med Genet A 164:1425-30. 2014
    ..Comparison of the craniofacial and dental phenotype in CS with other RASopathies, such as cardio-facio-cutaneous syndrome (CFC), provides insight into the complexities of Ras/MAPK signaling in human craniofacial and dental development...