Search Results - "Rauen, K."

Sex and gender differences in Alzheimer's disease: current challenges and implications for clinical practice: Position paper of the Dementia and Cognitive Disorders Panel of the European Academy of Neurology by Ferretti, M T, Martinkova, J, Biskup, E, Benke, T, Gialdini, G, Nedelska, Z, Rauen, K, Mantua, V, Religa, D, Hort, J, Santuccione Chadha, A, Schmidt, R

“…Alzheimer's disease (AD) is characterized by high heterogeneity in disease manifestation, progression and risk factors. High phenotypic variability is…”
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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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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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Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development by Siegel, D.H., Mann, J.A., Krol, A.L., Rauen, K.A.

“…Summary Background  The RASopathies are a class of human genetic syndromes caused by germline mutations in genes that encode protein components of the…”
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The association between juvenile xanthogranulomas in neurofibromatosis type 1 patients and the development of leukaemia: A systematic review by Meyer, S. N., Vaughn, A., Li, Y., Studer, A. C., Rauen, K. A., Kiuru, M.

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Comparison of hair manifestations in cardio‐facio‐cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth by Urban, J., Qi, L., Zhao, H., Rybak, I., Rauen, K.A., Kiuru, M.

“…Background Abnormal hair growth is a defining feature of RASopathies, syndromes caused by germline mutations in the RAS pathway. However, detailed hair…”
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Patient-derived iPSCs show premature neural differentiation and neuron type-specific phenotypes relevant to neurodevelopment by Yeh, E, Dao, D Q, Wu, Z Y, Kandalam, S M, Camacho, F M, Tom, C, Zhang, W, Krencik, R, Rauen, K A, Ullian, E M, Weiss, L A

“…Ras/MAPK pathway signaling is a major participant in neurodevelopment, and evidence suggests that BRAF, a key Ras signal mediator, influences human behavior…”
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Sex and gender differences in Alzheimer’s disease: current challenges and implications for clinical practice by Ferretti, M. T., Martinkova, J., Biskup, E., Benke, T., Gialdini, G., Nedelska, Z., Rauen, K., Mantua, V., Religa, D., Hort, J., Santuccione Chadha, A., Schmidt, R.

“…Alzheimer’s disease (AD) is characterized by high heterogeneity in disease manifestation, progression and risk factors. High phenotypic variability is…”
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Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome by Champion, KJ, Bunag, C, Estep, AL, Jones, JR, Bolt, CH, Rogers, RC, Rauen, KA, Everman, DB

“…Champion KJ, Bunag C, Estep AL, Jones JR, Bolt CH, Rogers RC, Rauen KA, Everman DB. Germline mutation in BRAF codon 600 is compatible with human development:…”
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Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis by Goodwin, AF, Oberoi, S, Landan, M, Charles, C, Groth, J, Martinez, A, Fairley, C, Weiss, LA, Tidyman, WE, Klein, OD, Rauen, KA

“…Cardio‐facio‐cutaneous syndrome (CFC) is a RASopathy that is characterized by craniofacial, dermatologic, gastrointestinal, ocular, cardiac, and neurologic…”
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Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy? by Nowaczyk, M.J.M., Thompson, B.A., Zeesman, S., Moog, U., Sanchez-Lara, P.A., Magoulas, P.L., Falk, R.E., Hoover-Fong, J.E., Batista, D.A.S., Amudhavalli, S.M., White, S.M., Graham, G.E., Rauen, K.A.

“…RASopathies are a class of genetic syndromes caused by germline mutations in genes encoding Ras/mitogen‐activated protein kinase (Ras/MAPK) pathway components…”
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Disruption of 3D Tissue Integrity Facilitates Adenovirus Infection by Deregulating the Coxsackievirus and Adenovirus Receptor by Anders, M., Hansen, R., R. -X. Ding, Rauen, K. A., Bissell, M. J., Korn, W. Michael

“…The human coxsackievirus and adenovirus receptor (CAR) represents the primary cellular site of adenovirus attachment during infection. An understanding of the…”
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Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH by Klein, OD, Cotter, PD, Moore, MW, Zanko, A, Gilats, M, Epstein, CJ, Conte, F, Rauen, KA

“…Interstitial deletions of the long arm of chromosome 6 are relatively rare, with fewer than 100 cases reported. Phenotypic variation is in large part due to…”
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Periventricular heterotopia associated with chromosome 5p anomalies by SHEEN, V. L, WHELESS, J. W, SHERR, E. H, BODELL, A, BRAVERMAN, E, COTTER, P. D, RAUEN, K. A, GLENN, O, WEISIGER, K, PACKMAN, S, WALSH, C. A

“…Periventricular heterotopia (PH) is characterized by neuronal nodules along the lateral ventricles. Whereas mutations in X-linked FLNA cause such cortical…”
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Congenital diaphragmatic hernia in Smith–Magenis syndrome: A possible locus at chromosome 17p11.2 by Sanford, E.F., Bermudez‐Wagner, K., Jeng, L.J.B., Rauen, K.A., Slavotinek, Anne M.

“…We report on a 7‐month‐old girl with Smith–Magenis syndrome (SMS) due to a 4.76‐Mb deletion of 17p12–17p11.2 detected by array comparative genomic…”
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Cancer targets in the Ras pathway by Rodriguez-Viciana, P, Tetsu, O, Oda, K, Okada, J, Rauen, K, McCormick, F

“…Ras proteins play a direct causal role in human cancer and in other diseases. Mutant H-Ras, N-Ras, and K-Ras occur in varying frequencies in different tumor…”
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Expression of the coxsackievirus- and adenovirus receptor in gastrointestinal cancer correlates with tumor differentiation by Korn, W M, Macal, M, Christian, C, Lacher, M D, McMillan, A, Rauen, K A, Warren, R S, Ferrell, L

“…Modified adenoviruses represent a new approach to treatment of gastrointestinal cancer. However, their uptake by cells in many cases requires the major…”
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Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors by Anastasaki, Corina, Estep, Anne L., Marais, Richard, Rauen, Katherine A., Patton, E. Elizabeth

“…The Ras/MAPK pathway is critical for human development and plays a central role in the formation and progression of most cancers. Children born with germ-line…”
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Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes by Tartaglia, M, Cotter, PD, Zampino, G, Gelb, BD, Rauen, KA

“…Costello syndrome (CS) is a rare, multiple congenital anomaly syndrome with characteristic dysmorphic features, cardiac anomalies and a tendency to develop…”
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Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay by Dietz, L G, Wylie, A A, Rauen, K A, Murphy, S K, Jirtle, R L, Cotter, P D

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