kate.rauen@ucsf.edu
(415) 514-3513 (office), 502-8551 (lab)
(415) 502-3179 (fax)

Box 0128, UCSF; San Francisco, CA 94143-0128

California State University, Bakersfield, 1981, B.S., Biology
University of California, Davis, 1986, M.S., Physiology
University of California, Davis, 1992, Ph.D., Genetics
University of California, Irvine, 1995, M.D., Medicine
University of California, San Francisco, 1997, Resident, Pediatrics
University of California, San Francisco, 2000, Fellow, Medical Genetics

Dvorak J, JL Halverson, P Gulick, KA Rauen, UK Abbott, BJ Kelly and FT Shultz. 1992. cDNA cloning of a Z-linked and W-linked gene in gallinaceous birds. Journal of Heredity 83: 22-25.

Chan TA, CA Chu, KA Rauen, M Kroiher, SM Tatarewicz and RE Steele. 1994. Identification of a gene encoding a novel protein-tyrosine kinase containing SH2 domains and ankyrin-like repeats. Oncogene 9(4): 1253-1259.

Rauen KA, CS LeCiel, UK Abbott and NJ Hutchison. 1994. Localization of chicken phosphoglycerate kinase to chromosome 4p by fluorescence in situ hybridization. Journal of Heredity 85: 147-151.

Rauen KA, P Cotter, S Bitts, V Cox and M Golabi. 2000. Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of chromosome 12q. American Journal of Medical Genetics 93: 219-222.

Rauen KA and P Cotter. 2001. Candidate region for cardio-facio-cutaneous syndrome. American Journal of Medical Genetics 101: 173.

Rauen KA, M Golabi, L Lei, S Bitts and P Cotter. 2001. Tandem duplication mosaicism: Characterization of a mosaic dup(5p) and review. Clinical Genetics 60: 367-371.

Rauen KA, DG Albertson, D Pinkel and PD Cotter. 2002. An additional patient with del(12)(q21.2q22): Further evidence for a candidate region for cardio-facio-cutaneous syndrome? American Journal of Medical Genetics 110:51-56.

Rauen KA, D Sudilovsky, J Le, K Chew, B Hann, V Weinberg, L Schmitt and F McCormick. 2002. Expression of the coxsackie-adenovirus receptor (CAR) in normal prostate and in primary and metastatic prostate carcinoma: Potential relevance to gene therapy. Cancer Research 62:2812-3818.

Sachs MD, KA Rauen, M Ramamurthy, JL Dodson, AM De Marzo, MJ Putzi, MP Schoenberg and R Rodriguez. 2002. Integrin alphav and coxsackie adenovirus receptor (CAR) expression in clinical bladder cancer. Urology 60(3): 531-536.

Rauen KA and P Cotter. 2003. Cardio-facio-cutaneous syndrome and Del(12q). American Journal of Medical Genetics 116A: 411-412.

Rauen KA, M Golabi and PD Cotter. 2003. Fertility in a female with mosaic trisomy 8: Report and review of the literature. Fertility and Sterility 79: 206-208.

Anders M, R Hansen, RX Ding, FM Waldman, KA Rauen, MJ Bissell and WM Korn. 2003. Disruption of three-dimensional tissue integrity facilitates adenovirus infection by deregulating the coxsackie- and adenovirus receptor. PNAS 100:1943-1948.

Sheen VL, JW Wheless, A Bodell, E Braverman, PD Cotter, KA Rauen, O Glenn, K Weisiger, S Packman, CA Walsh and EH Sherr. 2003. Periventricular heteropia associated with chromosome 5p anomalies. Neurology 60: 1033-1036.

Dietz LG, AA Wylie, KA Rauen, SK Murphy, RL Jirtle and PD Cotter. 2003. Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a rapid methylation PCR assay. Journal of Medical Genetics 40: e46.

Tartaglia M, PD Cotter, G Zampino, BD Gelb and KA Rauen. 2003. Exclusion of PTPN11 mutations in Costello syndrome: Further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes. Clinical Genetics 63: 423-426.

Ki A, KA Rauen, LD Black, DR Kostiner, PL Sandberg, D Pinkel, DG Albertson, ME Norton and PD Cotter. 2003. A ring 21 chromosome and a satellited 1p in the same patient: novel origin for an ectopic NOR. American Journal of Medical Genetics 120A: 365-369.

Klein OD, PD Cotter, DG Albertson, D Pinkel, WE Tidyman, MW Moore and KA Rauen. 2004. Prader-Willi syndrome resulting from an unbalanced translocation: Characterization by array comparative genomic hybridization. Clinical Genetics 65:477-428.

Cheng SF, KA Rauen, D Pinkel, DG Albertson, PD Cotter. 2005. Xq Chromosome Duplication in Males: Clinical, Cytogenetic and Array CGH Characterization of a New Case and Review. American Journal of Medical Genetics 135A:303-313.

Bao Y, W Peng, A Verbitsky, J Chen, L Wu, KA Rauen, JA Sawicki. 2005. Human coxsackie adenovirus receptor (CAR) expression in transgenic mouse prostate tumors enhances adenoviral delivery of genes. Prostate 64(4):401-407.

Matsumoto K, SF Shariat, GE Ayala, KA Rauen, SP Lerner. 2005. Loss of coxsackie and adenovirus receptor is associated with pathologic features of aggressive bladder cancer and decreased survival. Urology 66(2):441-6.

Klein, OD, PD Cotter, AM Schmidt, DP Bick, WE Tidyman, DG Albertson, D Pinkel, KA Rauen. 2005. Interstitial deletion of chromosome 12q: Genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization. American Journal of Medical Genetics 138(4):349-354.

Marsee DK, DD Vadysirisack, CD Morrison, ML. Prasad, C Eng, Q Duh, KA Rauen, RT Kloos, SM Jhiang. 2005. Variable expression of coxsackie-adenovirus receptor in thyroid tumors: Implications for adenoviral gene therapy. Thyroid 15(9):977-987.

Cotter, PD, H Nguyen, G Tung and KA Rauen. 2005. Incidence of Microduplication 22q11.2 in Patients Referred for FISH Testing for Velo-Cardio Facial and DiGeorge Syndromes. European Journal of Medical Genetics 13(12):1245-1246.

Glass IA, KA Rauen, E Chen, J Parkes, DG Alberston, D Pinkel, and PD Cotter. 2006. Ring Chromosome 15: Characterization by Array CGH. Human Genetics Jan;118(5):611-7.

Iglesias A, KA Rauen, DG Albertson, D Pinkel, PD Cotter. 2006. Duplication of distal 20q: Clinical, cytogenetic and array CGH characterization of a new case. Clinical Dysmorphology 15: 19-23.

Estep AL, WE Tidyman, MA Teitell, PD Cotter, KA Rauen. 2006. HRAS Mutations in Costello Syndrome: Detection of Constitutional Activating Mutations in Codon 12 and 13 and Loss of Wild-type Allele in Malignancy. American Journal of Medical Genetics Jan 1;140(1):8-16.

Rodriguez-Viciana P, O Tetsu, AL Estep, WE Tidyman, BA Conger, M Santa Cruz, F McCormick, KA Rauen. 2006. Germline mutations in genes within the MAPK cascade cause cardio-facio-cutaneous syndrome. Science. 311(5765):1287-90. Epub 2006 Jan 26

Ayala G, T Satoh, R Li, M Shalev, Y Gdor, E Aguilar-Cordova, A Frolov, TM Wheeler, BJ Miles, K Rauen, BS Teh, EB Butler, TC Thompson, D Kadmon. 2006. Biological Response Determinants in HSV-tk + Ganciclovir Gene Therapy for Prostate Cancer. Molecular Therapy. Apr;13(4):716-28.

Takagishi J, KA Rauen, T Drumheller, B Kousseff , M Sutcliffe. 2006. Chromosome 3p25 Deletion in a Mother and Daughter with Minimal Phenotypic Effect. American Journal of Medical Genetics. Jul 15;140(14):1587-93.

Korn WM, M Moncada, C Christian, M Lacher, A McMillan, KA Rauen, RS Warren, L Ferrell. 2006. Expression of the Coxsackievirus- and Adenovirus Receptor in Gastrointestinal Cancer Correlates with Tumor Differentiation. 2006. Cancer Gene Therapy. Apr 21; Epub.

Rauen KA. Distinguishing Costello vs Cardio-facio-cutaneous Syndrome: BRAF Mutations in Patients with a Costello Phenotype. 2006. American Journal of Medical Genetics. 140A:1681-1683. Jun 27; Epub

Rodriguez-Viciana P, O Tetsu, K Oda, J Okada, K Rauen, F McCormick. 2006. Cancer targets in the Ras Pathway. Cold Spring Harbor Symposia on Quantitative Biology, Symposia 70: 461-467.

Zampino G, F Pantaleoni, C Claudio, G Cobellis, I Vasta, EA Pogna, A Delogu, A Selicorni, KA Rauen, R Weksberg, A Ballabio, BD Gelb, G Neri, M Tartaglia. 2006. Diversity, parental germline origin and phenotypic spectrum of de novo HRAS missense change in Costello syndrome. Human Mutation. Epub Oct 2006.

Rauen KA. 2007. HRAS and the Costello Syndrome. Clinical Genetics. 71(2): 101-108.

Terry SF, PF Terry, KA Rauen, J Uitto, LB Bercovitch. 2007. A new model for the research enterprise: Advocacy organizations as research organizations. Nature Reviews Genetics. 8: 157-164.

Klein, OD, PD Cotter, MW Moore, A Zanko, M Gilats, CJ Epstein, F Conte, KA Rauen. 2007. Interstitial Deletions of Chromosome 6q: Genotype-Phenotype Correlation Utilizing Array CGH. Clinical Genetics. 71(3): 260-266.

Tokuyasu TA, PD Cotter, R Segraves, J Harris, ME Elder, M Gonzales, D Pinkel, DG Albertson, KA Rauen. 2007. Detection of Single Clone Deletions Using Array CGH: Identification of Submicroscopic Deletions in the 22q11 Deletion Syndrome as a Model System. American Journal of Medical Genetics. 143A: 925-932

Estep AL, C Palmer, F McCormick, KA Rauen. 2007. Mutation Analysis of BRAF, MEK1 and MEK2 in 15 Ovarian Cancer Cell Lines: Implications for Therapy. PLoS One 2(12):e1279.

Yoon G, J Rosenberg, S Blaser, KA Rauen. 2007. Neurological Complications of the Cardio-facio-cutaneous Syndrome (CFC). Developmental Medicine and Child Neurology 49: 894-899.

Senawong T, J Phuchareon, O Ohara, F McCormick, KA Rauen, O Tetsu. 2008. Germline mutations of MEK in cardio-facio-cutaneous (CFC) syndrome are sensitive to MEK and RAF inhibition: Implications for therapeutic options. Human Molecular Genetics. 17(3): 419-430. Epub Nov 2 2007.

Lin AE, KA Rauen, KL Gripp, JC Carey. 2008. Clarification of Previously Reported Costello Syndrome Patients. American Journal of Medical Genetics 146(7):940-3.

Rauen, KA, Aoki Y, Gripp KW, Matsubara Y, Proud VK, Hammond P, Allanson JE, Delrue MA, Axelrad ME, Lin AE, Doyle DA, Kerr B, Carey JC, McCormick F, Silva JA, Kieran MW, Hinek A, Nguyen TT, Schoyer L. 2008. Molecular Aspects, Clinical Aspects and Possible Treatment Modalities for Costello Syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007 American Journal of Medical Genetics 146A(9):1205-1217.

Kerr B, Allanson JE, Delrue MA, Gripp KW, Lacombe D, Lin AE, Rauen KA. 2008. Diagnosis of Costello Syndrome: Role of HRAS Mutation Analysis and Clarification of Nomenclature American Journal of Medical Genetics 146A(9):1218-1220.

Rodriguez-Viciana P and KA Rauen. 2008. Biochemical Characterization of Novel Germline BRAF and MEK Mutations in Cardio-facio-cutaneous Syndrome. Methods in Enzymology 438:277-89.

Tidyman WE and Rauen KA. Clinical and Molecular Overview of Noonan Syndrome, Costello Syndrome and Cardio-facio-cutaneous Syndrome: Dysregulation of the Ras/MAPK Pathway. Expert Review in Molecular Medicine. In Review.

Other Peer Reviewed Publications

Rauen KA. January 2007. Cardiofaciocutaneous Syndrome in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2007. Available at http://www.genetests.org.

Book Chapters

Rauen KA. Ras/MAPK Pathway and the Cardio-Facio-Cutaneous Syndrome. Inborn Errors of Development. 2nd Edition. CJ Epstein, RP Erickson, A Wynshaw-Boris (eds.). Oxford University Press, New York. 2008.

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