Search Results - "Chrast, Jacqueline"

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    Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models by Ricard, Guénola, Molina, Jessica, Chrast, Jacqueline, Gu, Wenli, Gheldof, Nele, Pradervand, Sylvain, Schütz, Frédéric, Young, Juan I, Lupski, James R, Reymond, Alexandre, Walz, Katherina

    Published in PLoS biology (01-11-2010)
    “…A large fraction of genome variation between individuals is comprised of submicroscopic copy number variation of genomic DNA segments. We assessed the relative…”
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    Copy number variation modifies expression time courses by Chaignat, Evelyne, Yahya-Graison, Emilie Aït, Henrichsen, Charlotte N, Chrast, Jacqueline, Schütz, Frédéric, Pradervand, Sylvain, Reymond, Alexandre

    Published in Genome research (01-01-2011)
    “…A preliminary understanding into the phenotypic effect of DNA segment copy number variation (CNV) is emerging. These rearrangements were demonstrated to…”
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    Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome by Molina, Jessica, Carmona-Mora, Paulina, Chrast, Jacqueline, Krall, Paola M., Canales, César P., Lupski, James R., Reymond, Alexandre, Walz, Katherina

    Published in Human molecular genetics (15-08-2008)
    “…The Potocki-Lupski syndrome (PTLS) is associated with a microduplication of 17p11.2. Clinical features include multiple congenital and neurobehavioral…”
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    GENCODE: producing a reference annotation for ENCODE by Harrow, Jennifer, Denoeud, France, Frankish, Adam, Reymond, Alexandre, Chen, Chao-Kung, Chrast, Jacqueline, Lagarde, Julien, Gilbert, James G R, Storey, Roy, Swarbreck, David, Rossier, Colette, Ucla, Catherine, Hubbard, Tim, Antonarakis, Stylianos E, Guigo, Roderic

    Published in Genome biology (01-01-2006)
    “…The GENCODE consortium was formed to identify and map all protein-coding genes within the ENCODE regions. This was achieved by a combination of initial manual…”
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    Comparison of contraction and calcium handling between right and left ventricular myocytes from adult mouse heart: a role for repolarization waveform by Kondo, Richard P., Dederko, Dorothy A., Teutsch, Christine, Chrast, Jacqueline, Catalucci, Daniele, Chien, Kenneth R., Giles, Wayne R.

    Published in The Journal of physiology (01-02-2006)
    “…In the mammalian heart, the right ventricle (RV) has a distinct structural and electrophysiological profile compared to the left ventricle (LV). However, the…”
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    Angiotensin II Induces Skeletal Muscle Wasting through Enhanced Protein Degradation and Down-Regulates Autocrine Insulin-Like Growth Factor I by Brink, Marijke, Price, S. Russ, Chrast, Jacqueline, Bailey, James L., Anwar, Asif, Mitch, William E., Delafontaine, Patrick

    Published in Endocrinology (Philadelphia) (01-04-2001)
    “…Abstract We previously showed that angiotensin II (ang II) infusion in the rat produces cachexia and decreases circulating insulin-like growth factor I…”
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    Angiotensin II Stimulates Gene Expression of Cardiac Insulin-Like Growth Factor I and Its Receptor Through Effects on Blood Pressure and Food Intake by Brink, Marijke, Chrast, Jacqueline, Price, S Russ, Mitch, William E, Delafontaine, Patrick

    Published in Hypertension (Dallas, Tex. 1979) (01-11-1999)
    “…Angiotensin II (Ang II) is known to act as a growth factor and may be involved in cardiac remodeling. We have shown that insulin-like growth factor-I (IGF-I)…”
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    Landscape of transcription in human cells by Djebali, Sarah, Davis, Carrie A., Merkel, Angelika, Dobin, Alex, Lassmann, Timo, Mortazavi, Ali, Tanzer, Andrea, Lagarde, Julien, Lin, Wei, Schlesinger, Felix, Xue, Chenghai, Marinov, Georgi K., Khatun, Jainab, Williams, Brian A., Zaleski, Chris, Rozowsky, Joel, Röder, Maik, Kokocinski, Felix, Abdelhamid, Rehab F., Alioto, Tyler, Antoshechkin, Igor, Baer, Michael T., Bar, Nadav S., Batut, Philippe, Bell, Kimberly, Bell, Ian, Chakrabortty, Sudipto, Chen, Xian, Chrast, Jacqueline, Curado, Joao, Derrien, Thomas, Drenkow, Jorg, Dumais, Erica, Dumais, Jacqueline, Duttagupta, Radha, Falconnet, Emilie, Fastuca, Meagan, Fejes-Toth, Kata, Ferreira, Pedro, Foissac, Sylvain, Fullwood, Melissa J., Gao, Hui, Gonzalez, David, Gordon, Assaf, Gunawardena, Harsha, Howald, Cedric, Jha, Sonali, Johnson, Rory, Kapranov, Philipp, King, Brandon, Kingswood, Colin, Luo, Oscar J., Park, Eddie, Persaud, Kimberly, Preall, Jonathan B., Ribeca, Paolo, Risk, Brian, Robyr, Daniel, Sammeth, Michael, Schaffer, Lorian, See, Lei-Hoon, Shahab, Atif, Skancke, Jorgen, Suzuki, Ana Maria, Takahashi, Hazuki, Tilgner, Hagen, Trout, Diane, Walters, Nathalie, Wang, Huaien, Wrobel, John, Yu, Yanbao, Ruan, Xiaoan, Hayashizaki, Yoshihide, Harrow, Jennifer, Gerstein, Mark, Hubbard, Tim, Reymond, Alexandre, Antonarakis, Stylianos E., Hannon, Gregory, Giddings, Morgan C., Ruan, Yijun, Wold, Barbara, Carninci, Piero, Guigó, Roderic, Gingeras, Thomas R.

    Published in Nature (London) (06-09-2012)
    “…Eukaryotic cells make many types of primary and processed RNAs that are found either in specific subcellular compartments or throughout the cells. A complete…”
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    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction by den Hoed, Joery, de Boer, Elke, Voisin, Norine, Dingemans, Alexander J.M., Guex, Nicolas, Wiel, Laurens, Nellaker, Christoffer, Amudhavalli, Shivarajan M., Banka, Siddharth, Bena, Frederique S., Ben-Zeev, Bruria, Bonagura, Vincent R., Bruel, Ange-Line, Brunet, Theresa, Brunner, Han G., Chew, Hui B., Chrast, Jacqueline, Cimbalistienė, Loreta, Coon, Hilary, Délot, Emmanuèlle C., Démurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Donnai, Dian, Dyment, David A., Elpeleg, Orly, Faivre, Laurence, Gilissen, Christian, Granger, Leslie, Haber, Benjamin, Hachiya, Yasuo, Abedi, Yasmin Hamzavi, Hanebeck, Jennifer, Hehir-Kwa, Jayne Y., Horist, Brooke, Itai, Toshiyuki, Jackson, Adam, Jewell, Rosalyn, Jones, Kelly L., Joss, Shelagh, Kashii, Hirofumi, Kato, Mitsuhiro, Kattentidt-Mouravieva, Anja A., Kok, Fernando, Kotzaeridou, Urania, Krishnamurthy, Vidya, Kučinskas, Vaidutis, Kuechler, Alma, Lavillaureix, Alinoë, Liu, Pengfei, Manwaring, Linda, Matsumoto, Naomichi, Mazel, Benoît, McWalter, Kirsty, Meiner, Vardiella, Mikati, Mohamad A., Miyatake, Satoko, Mizuguchi, Takeshi, Moey, Lip H., Mohammed, Shehla, Mor-Shaked, Hagar, Mountford, Hayley, Newbury-Ecob, Ruth, Odent, Sylvie, Orec, Laura, Osmond, Matthew, Palculict, Timothy B., Parker, Michael, Petersen, Andrea K., Pfundt, Rolph, Preikšaitienė, Eglė, Radtke, Kelly, Ranza, Emmanuelle, Rosenfeld, Jill A., Santiago-Sim, Teresa, Schwager, Caitlin, Sinnema, Margje, Snijders Blok, Lot, Spillmann, Rebecca C., Stegmann, Alexander P.A., Thiffault, Isabelle, Tran, Linh, Vaknin-Dembinsky, Adi, Vedovato-dos-Santos, Juliana H., Schrier Vergano, Samantha A., Vilain, Eric, Vitobello, Antonio, Wagner, Matias, Waheeb, Androu, Willing, Marcia, Zuccarelli, Britton, Kini, Usha, Newbury, Dianne F., Kleefstra, Tjitske, Reymond, Alexandre, Fisher, Simon E., Vissers, Lisenka E.L.M.

    Published in American journal of human genetics (04-02-2021)
    “…Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or…”
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    TBC1D7 Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease by Alfaiz, Ali Abdullah, Micale, Lucia, Mandriani, Barbara, Augello, Bartolomeo, Pellico, Maria Teresa, Chrast, Jacqueline, Xenarios, Ioannis, Zelante, Leopoldo, Merla, Giuseppe, Reymond, Alexandre

    Published in Human mutation (01-04-2014)
    “…ABSTRACT TBC1D7 forms a complex with TSC1 and TSC2 that inhibits mTORC1 signaling and limits cell growth. Mutations in TBC1D7 were reported in a family with…”
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