William E Tidyman
Affiliation: University of California
- 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...
- 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...
- 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....
- 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...
- 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...
- Peripheral muscle weakness in RASopathiesDavid 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...
- Expansion of the RASopathiesWilliam E Tidyman
Department of Pediatrics, Division of Behavioral and Developmental Pediatrics, University of California Davis, CA, USA UC Davis MIND Institute, Sacramento, CA, USA
Curr Genet Med Rep 4:57-64. 2016..In addition, recent reports have demonstrated that chromosomal copy number variation in regions encompassing Ras/MAPK pathway genes may be a novel pathogenetic mechanism expanding the RASopathies...
- 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...