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  1. 1
    Functional Deregulation of KIT

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

    Published 2014
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  2. 2
    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

    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 by Chul Min Kim, J L Goldstein, Michael S. Brown

    Published 1992
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  3. 3
    Neurological channelopathies: new insights into disease mechanisms and ion channel function

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

    Published 2010
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  4. 4
    When loss is gain: reduced presenilin proteolytic function leads to increased Aβ42/Aβ40

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

    Published 2007
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  5. 5
    Gain-of-Function Mutations in TnsC, an ATP-Dependent Transposition Protein That Activates the Bacterial Transposon Tn<i>7</i>

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

    Published 1997
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  6. 6
    Caught in the Act

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

    Published 2003
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  7. 7
    Early-Onset Epileptic Encephalopathy Caused by Gain-of-Function Mutations in the Voltage Sensor of K<sub>v</sub>7.2 and K<sub>v</sub>7.3 Potassium Channel Subunits

    Early-Onset Epileptic Encephalopathy Caused by Gain-of-Function Mutations in the Voltage Sensor of K<sub>v</sub>7.2 and K<sub>v</sub>7.3 Potassium Channel Subunits by Francesco Miceli, Maria Virginia Soldovieri, Paolo Ambrosino, Michela De Maria, Michele Migliore, Rosanna Migliore, Maurizio Taglialatela

    Published 2015
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  8. 8
    PB1-F2 Proteins from H5N1 and 20th Century Pandemic Influenza Viruses Cause Immunopathology

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

    Published 2010
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  9. 9
    Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis

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

    Published 2014
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  10. 10
    Conditional RNA interference in vivo to study mutant p53 oncogenic gain of function on tumor malignancy

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

    Published 2008
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  11. 11
    Gain-of-function amino acid substitutions drive positive selection of <i>FGFR2</i> mutations in human spermatogonia

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

    Published 2005
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  12. 12
    Gain-of-Function Mutation of KIT Ligand on Melanin Synthesis Causes Familial Progressive Hyperpigmentation

    Gain-of-Function Mutation of KIT Ligand on Melanin Synthesis Causes Familial Progressive Hyperpigmentation by 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

    Published 2009
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  13. 13
    <i>Notch1</i> activation in mice causes arteriovenous malformations phenocopied by ephrinB2 and EphB4 mutants

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

    Published 2010
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  14. 14
    Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

    Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome by 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

    Published 2013
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  15. 15
    Neuronal Function and Dysfunction of Drosophila dTDP

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

    Published 2011
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  16. 16
    Mutant TRPV4-mediated Toxicity Is Linked to Increased Constitutive Function in Axonal Neuropathies

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

    Published 2011
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  17. 17
    Two hot spot mutant p53 mouse models display differential gain of function in tumorigenesis

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

    Published 2013
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  18. 18
    A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

    A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome by 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

    Published 2015
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  19. 19
    Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

    Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia by 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

    Published 2008
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  20. 20
    Nonfunctional Na <sub>V</sub> 1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects

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

    Published 2013
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