K
Katherine A. Rauen
Researcher at University of California, Davis
Publications - 126
Citations - 6461
Katherine A. Rauen is an academic researcher from University of California, Davis. The author has contributed to research in topics: Costello syndrome & RASopathy. The author has an hindex of 39, co-authored 115 publications receiving 5555 citations. Previous affiliations of Katherine A. Rauen include MIND Institute & University of California, San Francisco.
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Journal ArticleDOI
The RASopathies: Developmental syndromes of Ras/MAPK pathway dysregulation
TL;DR: There are numerous overlapping phenotypic features between the RASopathies, including characteristic facial features, cardiac defects, cutaneous abnormalities, neurocognitive delay and a predisposition to malignancies.
Journal ArticleDOI
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
Pablo Rodriguez-Viciana,Osamu Tetsu,William E. Tidyman,Anne L. Estep,Brenda A. Conger,Molly Santa Cruz,Frank McCormick,Katherine A. Rauen +7 more
TL;DR: It is demonstrated that heterogeneous de novo missense mutations in three genes within the mitogen-activated protein kinase (MAPK) pathway cause CFC syndrome, and the involvement of the MAPK pathway in human development will provide a molecular diagnosis of CFC Syndrome.
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Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
Arkadiusz Piotrowski,Arkadiusz Piotrowski,Jing Xie,Ying F Liu,Andrzej Poplawski,Alicia Gomes,Piotr Madanecki,Chuanhua Fu,Michael R. Crowley,David K. Crossman,Linlea Armstrong,Dusica Babovic-Vuksanovic,Amanda L. Bergner,Jaishri O. Blakeley,Andrea L Blumenthal,Molly S. Daniels,Howard Feit,Kathy Gardner,Stephanie Hurst,Christine Kobelka,Chung Lee,Rebecca Nagy,Katherine A. Rauen,John M. Slopis,Pim Suwannarat,Judith A. Westman,Andrea Zanko,Bruce R. Korf,Ludwine Messiaen +28 more
TL;DR: The findings identify LZTR1 as a gene predisposing to an autosomal dominant inherited disorder of multiple schwannomas in ∼80% of 22q-relatedSchwannomatosis cases lacking mutation in SMARCB1.
Journal Article
Expression of the Coxsackie Adenovirus Receptor in Normal Prostate and in Primary and Metastatic Prostate Carcinoma: Potential Relevance to Gene Therapy
Katherine A. Rauen,Daniel Sudilovsky,Jason L Le,Karen L. Chew,Byron Hann,Vivian Weinberg,Lars Schmitt,Frank McCormick +7 more
TL;DR: Evaluated CAR expression in normal prostate tissue and in prostate carcinoma of increasing Gleason grades in paraffin-embedded, archival tissues using a polyclonal antibody raised against human CAR found a statistically significant difference in CAR membrane expression with respect to Gleason score.
Journal ArticleDOI
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,William E. Tidyman,Michael A. Teitell,Philip D. Cotter,Philip D. Cotter,Katherine A. Rauen +5 more
TL;DR: In this article, the HRAS coding region was sequenced for mutations in a large, well-characterized cohort of 36 Costello syndrome patients and the most consistent features included characteristic facies and skin, failure to thrive, developmental delay, musculoskeletal abnormalities, visual impairment, cardiac abnormalities, and generalized hyperpigmentation.