Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation
Krejci, Pavel, Aklian, Anie, Kaucka, Marketa, Sevcikova, Eva, Prochazkova, Jirina, Masek, Jan Kukla, Mikolka, Pavol, Pospisilova, Tereza, Spoustova, Tereza, Weis, MaryAnn, Paznekas, William A, Wolf, Joshua H, Gutkind, J Silvio, Wilcox, William R, Kozubik, Alois, Jabs, Ethylin Wang, Bryja, Vitezslav, Salazar, Lisa, Vesela, Iva, Balek, Lukas
Published in PloS one (27.04.2012)
Published in PloS one (27.04.2012)
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Journal Article
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype
Paznekas, William A, Karczeski, Barbara, Vermeer, Sascha, Lowry, R. Brian, Delatycki, Martin, Laurence, Faivre, Koivisto, Pasi A, Van Maldergem, Lionel, Boyadjiev, Simeon A, Bodurtha, Joann N, Wang Jabs, Ethylin
Published in Human mutation (01.05.2009)
Published in Human mutation (01.05.2009)
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Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia
Paznekas, William A., Boyadjiev, Simeon A., Shapiro, Robert E., Daniels, Otto, Wollnik, Bernd, Keegan, Catherine E., Innis, Jeffrey W., Dinulos, Mary Beth, Christian, Cathy, Hannibal, Mark C., Jabs, Ethylin Wang
Published in American journal of human genetics (01.02.2003)
Published in American journal of human genetics (01.02.2003)
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Journal Article
Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells
Lai, Albert, Le, Dung-Nghi, Paznekas, William A, Gifford, Wes D, Jabs, Ethylin Wang, Charles, Andrew C
Published in Journal of cell science (01.02.2006)
Published in Journal of cell science (01.02.2006)
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Journal Article
Mutations in TWIST , a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome
Green, Eric D, Delgado, Costanza Garcia, Howard, Timothy D, Luna, Rosa Isela Ortiz De, Ma, Nancy, Gonzalez-Ramos, Mario, Jabs, Ethylin Wang, Chiang, Lydia C, Paznekas, William A, Kline, Antoine D
Published in Nature genetics (01.01.1997)
Published in Nature genetics (01.01.1997)
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Journal Article
Tyrosine-dependent basolateral targeting of human connexin43-eYFP in Madin-Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V
Chtchetinin, Jana, Gifford, Wes D, Li, Sichen, Paznekas, William A, Jabs, Ethylin Wang, Lai, Albert
Published in The FEBS journal (01.12.2009)
Published in The FEBS journal (01.12.2009)
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Journal Article
Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome
Isaac, C, Marsh, K L, Paznekas, W A, Dixon, J, Dixon, M J, Jabs, E W, Meier, U T
Published in Molecular biology of the cell (01.09.2000)
Published in Molecular biology of the cell (01.09.2000)
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Journal Article
TCOF1 Gene Encodes a Putative Nucleolar Phosphoprotein that Exhibits Mutations in Treacher Collins Syndrome throughout its Coding Region
Wise, Carol A., Chiang, Lydia C., Paznekas, William A., Sharma, Mridula, Musy, Maurice M., Ashley, Jennifer A., Lovett, Michael, Jabs, Ethylin W.
Published in Proceedings of the National Academy of Sciences - PNAS (01.04.1997)
Published in Proceedings of the National Academy of Sciences - PNAS (01.04.1997)
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Journal Article
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening
JUANLIANG CAI, GOODMAN, Barbara K, DAENTL, Donna L, JABS, Ethylin Wang, PATEL, Ankita S, MULLIKEN, John B, VAN MALDERGEM, Lionel, HOGANSON, George E, PAZNEKAS, William A, BEN-NERIAH, Ziva, SHEFFER, Ruth, CUNNINGHAM, Michael L
Published in Human genetics (01.12.2003)
Published in Human genetics (01.12.2003)
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Journal Article
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome
Przylepa, Kelly A, Paznekas, William, Zhang, Minghuang, Golabi, Mahin, Bias, Wilma, Bamshad, Michael J, Carey, John C, Hall, Bryan D, Stevenson, Roger, Orlow, Seth J, Cohen Jr, M. Michael, Jabs, Ethylin Wang
Published in Nature genetics (01.08.1996)
Published in Nature genetics (01.08.1996)
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Journal Article
Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations
Paznekas, William A., Cunningham, Michael L., Howard, Timothy D., Korf, Bruce R., Lipson, Mark H., Grix, Art W., Feingold, Murray, Goldberg, Rosalie, Borochowitz, Zvi, Aleck, Kirk, Mulliken, John, Yin, Mingfei, Jabs, Ethylin Wang
Published in American journal of human genetics (01.06.1998)
Published in American journal of human genetics (01.06.1998)
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Journal Article
Genomic Organization, Expression, and Chromosome Location of the Human SNAIL Gene (SNAI1) and a Related Processed Pseudogene (SNAI1P)
Paznekas, William A., Okajima, Kazuki, Schertzer, Michael, Wood, Stephen, Jabs, Ethylin Wang
Published in Genomics (San Diego, Calif.) (15.11.1999)
Published in Genomics (San Diego, Calif.) (15.11.1999)
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Journal Article
OTX2 mutations contribute to the otocephaly-dysgnathia complex
Chassaing, Nicolas, Sorrentino, Susanna, Davis, Erica E, Martin-Coignard, Dominique, Iacovelli, Anthony, Paznekas, William, Webb, Bryn D, Faye-Petersen, Ona, Encha-Razavi, Férechté, Lequeux, Leopoldine, Vigouroux, Adeline, Yesilyurt, Ahmet, Boyadjiev, Simeon A, Kayserili, Hülya, Loget, Philippe, Carles, Dominique, Sergi, Consolato, Puvabanditsin, Surasak, Chen, Chih-Ping, Etchevers, Heather C, Katsanis, Nicholas, Mercer, Catherine L, Calvas, Patrick, Jabs, Ethylin Wang
Published in Journal of medical genetics (01.06.2012)
Published in Journal of medical genetics (01.06.2012)
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Journal Article
Receptor Tyrosine Kinases Activate Canonical WNT/[beta]-Catenin Signaling via MAP Kinase/LRP6 Pathway and Direct [beta]-Catenin Phosphorylation
Krejci, Pavel, Aklian, Anie, Kaucka, Marketa, Sevcikova, Eva, Prochazkova, Jirina, Masek, Jan Kukla, Mikolka, Pavol, Pospisilova, Tereza, Spoustova, Tereza, Weis, MaryAnn, Paznekas, William A, Wolf, Joshua H, Gutkind, J. Silvio, Wilcox, William R, Kozubik, Alois, Jabs, Ethylin Wang, Bryja, Vitezslav, Salazar, Lisa, Vesela, Iva, Balek, Lukas
Published in PloS one (27.04.2012)
Published in PloS one (27.04.2012)
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Journal Article
On the Mechanism of Membrane Damage by Complement: The Effect of Length and Unsaturation of the Acyl Chains in Liposomal Bilayers and the Effect of Cholesterol Concentration in Sheep Erythrocyte and Liposomal Membranes
Shin, Moon L, Paznekas, William A, Mayer, Manfred M
Published in The Journal of immunology (1950) (01.06.1978)
Published in The Journal of immunology (1950) (01.06.1978)
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Journal Article
Release of 86Rb+ and 14C-Phosphatidyl Choline Markers from Liposomes, and of Hemoglobin from Erythrocytes, by Activated Complement: Effect of Length and Unsaturation of Acyl Chains and of Cholesterol/Phospholipid Ratio
Shin, Moon L, Paznekas, William A, Abramovitz, Aaron S, Mayer, Manfred M
Published in The Journal of immunology (1950) (01.05.1978)
Published in The Journal of immunology (1950) (01.05.1978)
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Journal Article
Human SLUG gene organization, expression, and chromosome map location on 8q
COHEN, M. E, MINGFEI YIN, PAZNEKAS, W. A, SCHERTZER, M, WOOD, S, WANG JABS, E
Published in Genomics (San Diego, Calif.) (01.08.1998)
Published in Genomics (San Diego, Calif.) (01.08.1998)
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