„Mutations“

Suchergebnisse

10.000+ Treffer

• Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?
  Nguyen-Dumont, Tú ; Teo, Zhi L. ; Hammet, Fleur ; Roberge, Alexis ; Mahmoodi, Maryam ; Tsimiklis, Helen ; Park, Daniel J. ; Pope, Bernard J. ; Lonie, Andrew ; Kapuscinski, Miroslav K. ; Mahmood, Khalid ; Goldgar, David E. ; Giles, Graham G. ; Winship, Ingrid ; Hopper, John L. ; Southey, Melissa C.
• Dopamine and cortical neurons with different Parkinsonian mutations show variation in lysosomal and mitochondrial dysfunction
  Chedid, Jessica ; Li, Yan ; Labrador-Garrido, Adahir ; Abu-Bonsrah, Dad ; Pavan, Chiara ; Fraser, Tyra ; Ovchinnikov, Dmitry ; Zhong, Melanie ; Davis, Ryan ; Strbenac, Dario ; Johnston, Jennifer A. ; Thompson, Lachlan H. ; Kirik, Deniz ; Parish, Clare L. ; Halliday, Glenda M. ; Sue, Carolyn M. ; Wali, Gautam ; Dzamko, Nicolas
• Identification of post‐translationally modified proteins in proteome studies
  Sickmann, Albert ; Marcus, Katrin ; Schäfer, Heike ; Butt‐Dörje, Elke ; Lehr, Stefan ; Herkner, Armin ; Suer, Silke ; Bahr, Inke ; Meyer, Helmut E.
• Aprataxin mutations are a rare cause of early onset ataxia in Germany
  Habeck, Matthias ; Zühlke, Christine ; Bentele, Karl H. P. ; Unkelbach, Stephan ; Kreß, Wolfram ; Bürk, Katrin ; Schwinger, Eberhard ; Hellenbroich, Yorck
• Author Correction: PGBD5 promotes site-specific oncogenic mutations in human tumors
  Henssen, Anton George ; Koche, Richard ; Zhuang, Jiali ; Jiang, Eileen ; Reed, Casie ; Eisenberg, Amy ; Still, Eric ; MacArthur, Ian C. ; Rodríguez-Fos, Elias ; Gonzalez, Santiago ; Puiggròs, Montserrat ; Blackford, Andrew N. ; Mason, Christopher E. ; Stanchina, Elisa de ; Gönen, Mithat ; Emde, Anne-Katrin ; Shah, Minita ; Arora, Kanika ; Reeves, Catherine ; Socci, Nicholas D. ; Perlman, Elizabeth ; Antonescu, Cristina R. ; Roberts, Charles W. M. ; Steen, Hanno ; Mullen, Elizabeth ; Jackson, Stephen P. ;
• Adults with pathogenic MC4R mutations have increased final height and thereby increased bone mass
  Iepsen, Eva W. ; Zhang, Jinyi ; Hollensted, Mette ; Madsbad, Sten ; Hansen, Torben ; Holst, Jens Juul ; Jørgensen, Niklas R. ; Holm, Jens-Christian ; Torekov, Signe S.
• Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of Autism spectrum disorders
  Leblond, Claire S. ; Heinrich, Jutta ; Delorme, Richard ; Pröpper, Christian ; Betancur, Catalina ; Huguet, Guillaume ; Konyukh, Marina ; Chaste, Pauline ; Ey, Elodie ; Råstam, Maria ; Anckarsäter, Henrik ; Nygren, Gudrun ; Gillberg, I. Carina ; Melke, Jonas ; Toro, Roberto ; Regnault, Beatrice ; Fauchereau, Fabien ; Mercati, Oriane ; Lemière, Nathalie ; Skuse, David ; Poot, Martin ; Holt, Richard ; Monaco, Anthony P. ; Järvelä, Irma ; Kantojärvi, Katri ; Vanhala, Raija ; Curran, Sarah ; Collier, Dav 2012 Universitätsbibliothek Johann Christian Senckenberg
• Market Gardening in the Volcanic Soils of the Bamoun Plateau (West-Cameroon). Territorial and Socioenvironmental Mutations
  Alassa, Mfouapon 2021 GRIN Verlag
• Conformational SERS Classification of K‐Ras Point Mutations for Cancer Diagnostics
  Morla‐Folch, Judit ; Gisbert‐Quilis, Patricia ; Masetti, Matteo ; Garcia‐Rico, Eduardo ; Alvarez‐Puebla, Ramon A. ; Guerrini, Luca
• Hidden Conformations in Aspergillus niger Monoamine Oxidase are Key for Catalytic Efficiency
  Curado‐Carballada, Christian ; Feixas, Ferran ; Iglesias‐Fernández, Javier ; Osuna, Sílvia
• Separate Sets of Mutations Enhance Activity and Substrate Scope of Amine Dehydrogenase
  Franklin, Robert D. ; Mount, Conner J. ; Bommarius, Bettina R. ; Bommarius, Andreas S.
• FungAMR: a comprehensive database for investigating fungal mutations associated with antimicrobial resistance
  Bédard, Camille ; Pageau, Alicia ; Fijarczyk, Anna ; Mendoza-Salido, David ; Alcañiz, Alejandro J. ; Després, Philippe C. ; Durand, Romain ; Plante, Samuel ; Alexander, Emilie M. M. ; Rouleau, François D. ; Jordan, David F. ; Jay, Adarsh ; Giguère, Mathieu ; Bernier, Mégane ; Sharma, Jehoshua ; Maroc, Laetitia ; Gervais, Nicholas C. ; Menon, Anagha C. T. ; Gagnon-Arsenault, Isabelle ; Bakker, Sibbe ; Rhodes, Johanna ; Dufresne, Philippe J. ; Bharat, Amrita ; Sellam, Adnane ; Luca, Domenica G. De ; Ger
• Most azole resistance mutations in the Candida albicans drug target confer cross-resistance without intrinsic fitness cost
  Bédard, Camille ; Gagnon-Arsenault, Isabelle ; Boisvert, Jonathan ; Plante, Samuel ; Dubé, Alexandre K. ; Pageau, Alicia ; Fijarczyk, Anna ; Sharma, Jehoshua ; Maroc, Laetitia ; Shapiro, Rebecca S. ; Landry, Christian R.
• Using rare genetic mutations to revisit structural brain asymmetry
  Kopal, Jakub ; Kumar, Kuldeep ; Shafighi, Kimia ; Saltoun, Karin ; Modenato, Claudia ; Moreau, Clara A. ; Huguet, Guillaume ; Jean-Louis, Martineau ; Martin, Charles-Olivier ; Saci, Zohra ; Younis, Nadine ; Douard, Elise ; Jizi, Khadije ; Beauchamp-Chatel, Alexis ; Kushan, Leila ; Silva, Ana I. ; Bree, Marianne B. M. van den ; Linden, David ; Owen, Michael J. ; Hall, Jeremy ; Lippé, Sarah ; Draganski, Bogdan ; Sønderby, Ida E. ; Andreassen, Ole A. ; Glahn, David C. ; Thompson, Paul M. ; Bearden, Carrie E.
• Author Correction: Using rare genetic mutations to revisit structural brain asymmetry
  Kopal, Jakub ; Kumar, Kuldeep ; Shafighi, Kimia ; Saltoun, Karin ; Modenato, Claudia ; Moreau, Clara A. ; Huguet, Guillaume ; Jean-Louis, Martineau ; Martin, Charles-Olivier ; Saci, Zohra ; Younis, Nadine ; Douard, Elise ; Jizi, Khadije ; Beauchamp-Chatel, Alexis ; Kushan, Leila ; Silva, Ana I. ; Bree, Marianne B. M. van den ; Linden, David ; Owen, Michael J. ; Hall, Jeremy ; Lippé, Sarah ; Draganski, Bogdan ; Sønderby, Ida E. ; Andreassen, Ole A. ; Glahn, David C. ; Thompson, Paul M. ; Bearden, Carrie E.
• Development and Evaluation of a Web-Based Outcome Database for Advanced Melanoma with Rare BRAF Mutations
  Dugas-Breit, Susanne ; Menzer, Christian ; Blank, Christian U. ; Carlino, Matteo S. ; Lehmann, Christoph U. ; Hassel, Jessica C. ; Dugas, Martin
• Age matters—thoughts on a grading system for ABCA4 mutations
  Lorenz, Birgit ; Preising, Markus N.
• Identification of GFI1 mutations in adult patients with congenital neutropenia
  Boutakoglou, Erasmia ; Klimiankou, Maksim ; Tsaknakis, Grigorios ; Drakos, Elias ; Skokowa, Julia ; Papadaki, Helen A.
• SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome—the Myhre syndrome
  Kandhaya-Pillai, Renuka ; Hou, Deyin ; Zhang, Jiaming ; Yang, Xiaomeng ; Compoginis, Goli ; Mori, Takayasu ; Tchkonia, Tamara ; Martin, George M. ; Hisama, Fuki M. ; Kirkland, James L. ; Oshima, Junko
• Spinocerebellar Ataxia Type 28—Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2
  Tunc, Sinem ; Dulovic-Mahlow, Marija ; Baumann, Hauke ; Baaske, Magdalena Khira ; Jahn, Magdalena ; Junker, Johanna ; Münchau, Alexander ; Brüggemann, Norbert ; Lohmann, Katja