Research Topics
Genomes and Genes | Katherine A RauenSummaryAffiliation: University of California Country: USA Publications
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Publications
Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathiesKatherine 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...- Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generationsKatherine 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... - Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and backKatherine A Rauen
University of California San Francisco, San Francisco, California, USA
Am J Med Genet A 152:4-24. 2010.... - Mutational and functional analysis in human Ras/MAP kinase genetic syndromesWilliam 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.... 
Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic optionsThanaset 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...- Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndromePablo 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... - Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007Katherine 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 - Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndromePablo 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... - Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathwayWilliam 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... - HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancyAnne 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... 
Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapyAnne 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...- Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotypeKatherine 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 - Ring chromosome 15: characterization by array CGHIan 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... - Duplication of distal 20q: clinical, cytogenetic and array CGH. Characterization of a new caseAlejandro 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... - Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and reviewSabrina 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... - Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effectJennifer 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... - Detection of single clone deletions using array CGH: identification of submicroscopic deletions in the 22q11.2 deletion syndrome as a model systemTaku 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... - Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridizationOphir 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.... - Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardationEmily Chen
Department of Genetics, Kaiser Medical Center, San Jose, California, USA
Am J Med Genet A 146:2785-90. 2008.... - The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulationWilliam 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... - Expression of the coxsackie adenovirus receptor in normal prostate and in primary and metastatic prostate carcinoma: potential relevance to gene therapyKatherine 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... - Ring 21 chromosome and a satellited 1p in the same patient: novel origin for an ectopic NORAnita 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... - Juvenile myelomonocytic leukemia in a 16-year-old with Noonan syndrome: case reportMichael 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... - Fertility in a female with mosaic trisomy 8Katherine A Rauen
Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA
Fertil Steril 79:206-8. 2003..In addition, this and previous cases illustrate the need to effectively counsel families of mosaic trisomy 8 children about the possibility of reproduction... - 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...