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Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism
Cinque, Luigia, Sparaneo, Angelo, Penta, Laura, Mencarelli, Amedea, Rogaia, Daniela, Esposito, Susanna, Fabrizio, Federico Pio, Baorda, Filomena, Verrotti, Alberto, Falorni, Alberto, Stangoni, Gabriela, Hendy, Geoffrey N, Guarnieri, Vito, Prontera, Paolo
Published in The journal of clinical endocrinology and metabolism (01.11.2017)
Published in The journal of clinical endocrinology and metabolism (01.11.2017)
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Journal Article
Molecular Mechanisms Leading to Null-Protein Product from Retinoschisin (RS1) Signal-Sequence Mutants in X-Linked Retinoschisis (XLRS) Disease
Vijayasarathy, Camasamudram, Sui, Ruifang, Zeng, Yong, Yang, Guoxing, Xu, Fei, Caruso, Rafael C., Lewis, Richard A., Ziccardi, Lucia, Sieving, Paul A.
Published in Human mutation (01.11.2010)
Published in Human mutation (01.11.2010)
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Journal Article
Immunization with plasmid DNA encoding influenza A virus nucleoprotein fused to a tissue plasminogen activator signal sequence elicits strong immune responses and protection against H5N1 challenge in mice
Luo, Mengcheng, Tao, Pan, Li, Junwei, Zhou, Siyu, Guo, Deyin, Pan, Zishu
Published in Journal of virological methods (01.12.2008)
Published in Journal of virological methods (01.12.2008)
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Journal Article
How presence of a signal peptide affects human galectins-1 and -4: Clues to explain common absence of a leader sequence among adhesion/growth-regulatory galectins
Kutzner, Tanja J., Higuero, Alonso M., Süßmair, Martina, Kopitz, Jürgen, Hingar, Michael, Díez-Revuelta, Natalia, Caballero, Gabriel García, Kaltner, Herbert, Lindner, Ingo, Abad-Rodríguez, José, Reusch, Dietmar, Gabius, Hans-Joachim
Published in Biochimica et biophysica acta. General subjects (01.01.2020)
Published in Biochimica et biophysica acta. General subjects (01.01.2020)
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Journal Article
Proper insertion and topogenesis of membrane proteins in the ER depend on Sec63
Jung, Sung-jun, Jung, Yunjae, Kim, Hyun
Published in Biochimica et biophysica acta. General subjects (01.09.2019)
Published in Biochimica et biophysica acta. General subjects (01.09.2019)
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Journal Article
Genomic profiling of human vascular cells identifies TWIST1 as a causal gene for common vascular diseases
Nurnberg, Sylvia T., Guerraty, Marie A., Wirka, Robert C., Rao, H. Shanker, Pjanic, Milos, Norton, Scott, Serrano, Felipe, Perisic, Ljubica, Elwyn, Susannah, Pluta, John, Zhao, Wei, Testa, Stephanie, Park, YoSon, Nguyen, Trieu, Ko, Yi-An, Wang, Ting, Hedin, Ulf, Sinha, Sanjay, Barash, Yoseph, Brown, Christopher D., Quertermous, Thomas, Rader, Daniel J.
Published in PLoS genetics (09.01.2020)
Published in PLoS genetics (09.01.2020)
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Journal Article
Rheumatoid arthritis-associated RBPJ polymorphism alters memory CD4 + T cells
Orent, William, Mchenry, Allison R., Rao, Deepak A., White, Charles, Klein, Hans-Ulrich, Bassil, Ribal, Srivastava, Gyan, Replogle, Joseph M., Raj, Towfique, Frangieh, Michael, Cimpean, Maria, Cuerdon, Nicole, Chibnik, Lori, Khoury, Samia J., Karlson, Elizabeth W., Brenner, Michael B., De Jager, Philip, Bradshaw, Elizabeth M., Elyaman, Wassim
Published in Human molecular genetics (15.01.2016)
Published in Human molecular genetics (15.01.2016)
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Journal Article
Notch controls embryonic Schwann cell differentiation, postnatal myelination and adult plasticity
Woodhoo, Ashwin, Alonso, Maria B Duran, Droggiti, Anna, Turmaine, Mark, D'Antonio, Maurizio, Parkinson, David B, Wilton, Daniel K, Al-Shawi, Raya, Simons, Paul, Shen, Jie, Guillemot, Francois, Radtke, Freddy, Meijer, Dies, Feltri, M Laura, Wrabetz, Lawrence, Mirsky, Rhona, Jessen, Kristján R
Published in Nature neuroscience (01.07.2009)
Published in Nature neuroscience (01.07.2009)
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Journal Article
The order of ostensive and referential signals affects dogs’ responsiveness when interacting with a human
Tauzin, Tibor, Csík, Andor, Kis, Anna, Kovács, Krisztina, Topál, József
Published in Animal cognition (01.07.2015)
Published in Animal cognition (01.07.2015)
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Journal Article
Defective secretory-protein mRNAs take the RAPP
Popp, Maximilian Wei-Lin, Maquat, Lynne E.
Published in Trends in biochemical sciences (Amsterdam. Regular ed.) (01.04.2014)
Published in Trends in biochemical sciences (Amsterdam. Regular ed.) (01.04.2014)
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Journal Article
Mutations of acidic residues in RAG1 define the active site of the V(D)J recombinase
Kim, D. R., Dai, Y., Mundy, C. L., Yang, W., Oettinger, M. A.
Published in Genes & development (01.12.1999)
Published in Genes & development (01.12.1999)
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Journal Article