Resultados da pesquisa

Functional Deregulation of KIT Por Glenn Cruse, Dean D. Metcalfe, Ana Olivera

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cDNA cloning of MEV, a mutant protein that facilitates cellular uptake of mevalonate, and identification of the point mutation responsible for its gain of function Por Chul Min Kim, J L Goldstein, Michael S. Brown

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Neurological channelopathies: new insights into disease mechanisms and ion channel function Por Dimitri M. Kullmann, Stephen G. Waxman

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When loss is gain: reduced presenilin proteolytic function leads to increased Aβ42/Aβ40 Por Michael S. Wolfe

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Gain-of-Function Mutations in TnsC, an ATP-Dependent Transposition Protein That Activates the Bacterial Transposon Tn<i>7</i> Por Anne E. Stellwagen, Nancy L. Craig

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Caught in the Act Por Jason L. Eriksen, Ted M. Dawson, Dennis W. Dickson, Leonard Petrucelli

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Early-Onset Epileptic Encephalopathy Caused by Gain-of-Function Mutations in the Voltage Sensor of K_v7.2 and K_v7.3 Potassium Channel Subunits Por Francesco Miceli, Maria Virginia Soldovieri, Paolo Ambrosino, Michela De Maria, Michele Migliore, Rosanna Migliore, Maurizio Taglialatela

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PB1-F2 Proteins from H5N1 and 20th Century Pandemic Influenza Viruses Cause Immunopathology Por Julie McAuley, Jerry E. Chipuk, Kelli L. Boyd, Nick Van De Velde, Douglas R. Green, Jonathan A. McCullers

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Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis Por Heather Hartman, Julie E. Niemela, Mary Hintermeyer, Mary Garofalo, Jennifer Stoddard, James Verbsky, Sergio D. Rosenzweig, John M. Routes

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Conditional RNA interference in vivo to study mutant p53 oncogenic gain of function on tumor malignancy Por Gianluca Bossi, Francesco Marampon, Revital Maor-Aloni, Bianca M. Zani, Varda Rotter, Moshe Oren, Sabrina Strano, Giovanni Blandino, Ada Sacchi

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Gain-of-function amino acid substitutions drive positive selection of <i>FGFR2</i> mutations in human spermatogonia Por Anne Goriely, Gil McVean, Ans M. M. van Pelt, A O'Rourke, Steven A. Wall, Dirk G. de Rooij, Andrew O.M. Wilkie

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Gain-of-Function Mutation of KIT Ligand on Melanin Synthesis Causes Familial Progressive Hyperpigmentation Por Zhiqiang Wang, Lizhen Si, Quan Tang, Debao Lin, Zhangjie Fu, Jing Zhang, Bin Cui, Yufei Zhu, Xianghua Kong, Min Deng, Yu Xia, Heng Xu, Weidong Le, Landian Hu, Xiangyin Kong

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<i>Notch1</i> activation in mice causes arteriovenous malformations phenocopied by ephrinB2 and EphB4 mutants Por Luke T. Krebs, Christa Starling, Alexander V. Chervonsky, Thomas Gridley

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Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome Por Yoko Aoki, Tetsuya Niihori, Toshihiro Banjo, Nobuhiko Okamoto, Seiji Mizuno, Kenji Kurosawa, Tsutomu Ogata, Fumio Takada, Michihiro Yano, Toru Ando, Tadataka Hoshika, Christopher Barnett, Hirofumi Ohashi, Hiroshi Kawame, Tomonobu Hasegawa, Takahiro Okutani, Tatsuo Nagashima, Satoshi Hasegawa, Ryo Funayama, Takeshi Nagashima, Keiko Nakayama, Shin-ichi Inoue, Yusuke Watanabe, Toshihiko Ogura, Yoichi Matsubara

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Neuronal Function and Dysfunction of Drosophila dTDP Por Meng-Jau Lin, Ching Cheng, C.‐K. James Shen

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Mutant TRPV4-mediated Toxicity Is Linked to Increased Constitutive Function in Axonal Neuropathies Por Faisal Fecto, Yong Shi, Rafiq Huda, Marco Martina, Teepu Siddique, Han‐Xiang Deng

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Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis Por Walter Hanel, N D Marchenko, Suheng Xu, Stephen Yu, Wen-Kai Weng, Ute M. Moll

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A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome Por Frank Rutsch, Mary MacDougall, Changming Lu, Insa Buers, Olga Mamaeva, Yvonne Nitschke, Gillian Rice, Heidi Erlandsen, Hans-Gerd Kehl, Hölger Thiele, Peter Nürnberg, Wolfgang Höhne, Yanick J. Crow, Annette Feigenbaum, Raoul C. Hennekam

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Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia Por Matthew J. Rock, Jean Prenen, Vincent Funari, Tara Funari, Barry Merriman, Stanley F. Nelson, Ralph S. Lachman, William R. Wilcox, Soraya Reyno, Roberto Quadrelli, Alicia Vaglio, Grzegorz Owsianik, Annelies Janssens, Thomas Voets, Shiro Ikegawa, Toshiro Nagai, David L. Rimoin, Bernd Nilius, Daniel H. Cohn

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Nonfunctional Na _V 1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects Por Sandrine Cestèle, Emanuele Schiavon, Raffaella Rusconi, Silvana Franceschetti, Massimo Mantegazza

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