Search Results - "RAUEN, A"

The RASopathies by Rauen, Katherine A

“…The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the…”
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Defining RASopathy by Rauen, Katherine A

“…The term RASopathy was originally created to describe a phenotypically similar group of medical genetic syndromes caused by germline pathogenic variants in…”
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The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation by Tidyman, William E, Rauen, Katherine A

“…The Ras/mitogen activated protein kinase (MAPK) pathway is essential in the regulation of the cell cycle, differentiation, growth and cell senescence, all of…”
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The duality of human oncoproteins: drivers of cancer and congenital disorders by Castel, Pau, Rauen, Katherine A., McCormick, Frank

“…Human oncoproteins promote transformation of cells into tumours by dysregulating the signalling pathways that are involved in cell growth, proliferation and…”
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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation by Legius, Eric, Messiaen, Ludwine, Wolkenstein, Pierre, Pancza, Patrice, Avery, Robert A., Berman, Yemima, Blakeley, Jaishri, Babovic-Vuksanovic, Dusica, Cunha, Karin Soares, Ferner, Rosalie, Fisher, Michael J., Friedman, Jan M., Gutmann, David H., Kehrer-Sawatzki, Hildegard, Korf, Bruce R., Mautner, Victor-Felix, Peltonen, Sirkku, Rauen, Katherine A., Riccardi, Vincent, Schorry, Elizabeth, Stemmer-Rachamimov, Anat, Stevenson, David A., Tadini, Gianluca, Ullrich, Nicole J., Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Gomes, Alicia, Jordan, Justin T., Mautner, Victor, Merker, Vanessa L., Smith, Miriam J., Stevenson, David, Anten, Monique, Aylsworth, Arthur, Baralle, Diana, Barbarot, Sebastien, Barker, Fred, Ben-Shachar, Shay, Bergner, Amanda, Bessis, Didier, Blanco, Ignacio, Cassiman, Catherine, Ciavarelli, Patricia, Clementi, Maurizio, Frébourg, Thierry, Giovannini, Marco, Halliday, Dorothy, Hammond, Chris, Hanemann, C.O., Hanson, Helen, Heiberg, Arvid, Joly, Pascal, Kalamarides, Michel, Karajannis, Matthias, Kroshinsky, Daniela, Larralde, Margarita, Lázaro, Conxi, Le, Lu, Link, Michael, Listernick, Robert, MacCollin, Mia, Mallucci, Conor, Moertel, Christopher, Mueller, Amy, Ngeow, Joanne, Oostenbrink, Rianne, Packer, Roger, Papi, Laura, Parry, Allyson, Peltonen, Juha, Pichard, Dominique, Poppe, Bruce, Rezende, Nilton, Rodrigues, Luiz Oswaldo, Rosser, Tena, Ruggieri, Martino, Serra, Eduard, Steinke-Lange, Verena, Stivaros, Stavros Michael, Taylor, Amy, Toelen, Jaan, Tonsgard, James, Trevisson, Eva, Upadhyaya, Meena, Varan, Ali, Wilson, Meredith, Wu, Hao, Zadeh, Gelareh, Huson, Susan M., Evans, D. Gareth, Plotkin, Scott R.

“…By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1…”
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ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation by Gelb, Bruce D, Cavé, Hélène, Dillon, Mitchell W, Gripp, Karen W, Lee, Jennifer A, Mason-Suares, Heather, Rauen, Katherine A, Williams, Bradley, Zenker, Martin, Vincent, Lisa M

“…Purpose Standardized and accurate variant assessment is essential for effective medical care. To that end, Clinical Genome (ClinGen) Resource clinical domain…”
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RASopathies - what they reveal about RAS/MAPK signaling in skeletal muscle development by Rauen, Katherine A, Tidyman, William E

“…RASopathies are rare developmental genetic syndromes caused by germline pathogenic variants in genes that encode components of the RAS/mitogen-activated…”
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Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas by Piotrowski, Arkadiusz, Xie, Jing, Liu, Ying F, Poplawski, Andrzej B, Gomes, Alicia R, Madanecki, Piotr, Fu, Chuanhua, Crowley, Michael R, Crossman, David K, Armstrong, Linlea, Babovic-Vuksanovic, Dusica, Bergner, Amanda, Blakeley, Jaishri O, Blumenthal, Andrea L, Daniels, Molly S, Feit, Howard, Gardner, Kathy, Hurst, Stephanie, Kobelka, Christine, Lee, Chung, Nagy, Rebecca, Rauen, Katherine A, Slopis, John M, Suwannarat, Pim, Westman, Judith A, Zanko, Andrea, Korf, Bruce R, Messiaen, Ludwine M

“…Ludwine Messiaen and colleagues report the identification of constitutional LZTR1 mutations in individuals with schwannomatosis, an autosomal dominant…”
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Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines by Pierpont, Mary Ella M, Magoulas, Pilar L, Adi, Saleh, Kavamura, Maria Ines, Neri, Giovanni, Noonan, Jacqueline, Pierpont, Elizabeth I, Reinker, Kent, Roberts, Amy E, Shankar, Suma, Sullivan, Joseph, Wolford, Melinda, Conger, Brenda, Santa Cruz, Molly, Rauen, Katherine A

“…Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most…”
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Germline Mutations in Genes within the MAPK Pathway Cause Cardio-Facio-Cutaneous Syndrome by Rodriguez-Viciana, Pablo, Tetsu, Osamu, Tidyman, William E., Estep, Anne L., Conger, Brenda A., Cruz, Molly Santa, McCormick, Frank, Rauen, Katherine A.

“…Cardio-facio-cutaneous (CFC) syndrome is a sporadic developmental disorder involving characteristic craniofacial features, cardiac defects, ectodermal…”
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HRAS and the Costello syndrome by Rauen, KA

“…Costello syndrome (CS) is a complex developmental disorder involving characteristic craniofacial features, failure to thrive, developmental delay, cardiac and…”
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Costello syndrome: Clinical phenotype, genotype, and management guidelines by Gripp, Karen W., Morse, Lindsey A., Axelrad, Marni, Chatfield, Kathryn C., Chidekel, Aaron, Dobyns, William, Doyle, Daniel, Kerr, Bronwyn, Lin, Angela E., Schwartz, David D., Sibbles, Barbara J., Siegel, Dawn, Shankar, Suma P., Stevenson, David A., Thacker, Mihir M., Weaver, K. Nicole, White, Sue M., Rauen, Katherine A.

“…Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ…”
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Translating multiscale research in rare disease by Hooper, Kirsty M, Justice, Monica J, Lek, Monkol, Liu, Karen J, Rauen, Katherine A

“…This Editorial introduces DMM's new Special Issue on ‘Translating Multiscale Research in Rare Disease’. The Guest Editors reflect on how articles in the issue…”
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MEK-inhibitor-mediated rescue of skeletal myopathy caused by activating Hras mutation in a Costello syndrome mouse model by Tidyman, William E, Goodwin, Alice F, Maeda, Yoshiko, Klein, Ophir D, Rauen, Katherine A

“…Costello syndrome (CS) is a congenital disorder caused by heterozygous activating germline HRAS mutations in the canonical Ras/mitogen-activated protein kinase…”
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Dysregulation of astrocyte extracellular signaling in Costello syndrome by Krencik, Robert, Hokanson, Kenton C, Narayan, Aditi R, Dvornik, Jill, Rooney, Gemma E, Rauen, Katherine A, Weiss, Lauren A, Rowitch, David H, Ullian, Erik M

“…Astrocytes produce an assortment of signals that promote neuronal maturation according to a precise developmental timeline. Is this orchestrated timing and…”
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Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders by Mitra, Ileena, Lavillaureix, Alinoë, Yeh, Erika, Traglia, Michela, Tsang, Kathryn, Bearden, Carrie E, Rauen, Katherine A, Weiss, Lauren A

“…Although gene-gene interaction, or epistasis, plays a large role in complex traits in model organisms, genome-wide by genome-wide searches for two-way…”
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Cross-species analysis of LZTR1 loss-of-function mutants demonstrates dependency to RIT1 orthologs by Cuevas-Navarro, Antonio, Rodriguez-Muñoz, Laura, Grego-Bessa, Joaquim, Cheng, Alice, Rauen, Katherine A, Urisman, Anatoly, McCormick, Frank, Jimenez, Gerardo, Castel, Pau

“…RAS GTPases are highly conserved proteins involved in the regulation of mitogenic signaling. We have previously described a novel Cullin 3 RING E3 ubiquitin…”
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Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome by Siegel, D.H., McKenzie, J., Frieden, I.J., Rauen, K.A.

“…Summary Background  The RASopathies are a class of human genetic syndromes that are caused by germline mutations in genes which encode components of the…”
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RASopathies: unraveling mechanisms with animal models by Jindal, Granton A, Goyal, Yogesh, Burdine, Rebecca D, Rauen, Katherine A, Shvartsman, Stanislav Y

“…RASopathies are developmental disorders caused by germline mutations in the Ras-MAPK pathway, and are characterized by a broad spectrum of functional and…”
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Proteasome inhibition can induce an autophagy-dependent apical activation of caspase-8 by Laussmann, M A, Passante, E, Düssmann, H, Rauen, J A, Würstle, M L, Delgado, M E, Devocelle, M, Prehn, J H M, Rehm, M

“…Antiapoptotic Bcl-2 family proteins are often highly expressed in chemotherapy-resistant cancers and impair mitochondrial outer membrane permeabilisation…”
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