Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders

Gremer, Lothar, Merbitz-Zahradnik, Torsten, Dvorsky, Radovan, Cirstea, Ion C., Kratz, Christian Peter, Zenker, Martin, Wittinghofer, Alfred, Ahmadian, Mohammad Reza·2011·Human Mutation
DOI 10.1002/humu.21377

Cited by (158)

Items 101–158 of 158

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  2. Development of a versatile HPLC-based method to evaluate the activation status of small GTPases
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  3. GTP hydrolysis is modulated by Arg34 in the RASopathy‐associated KRASP34R
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  4. Simultaneous Analysis of MLH1, MSH2, MSH6, PMS2 and KRAS in Patients with Gastric and Colon Cancer Using Stochastic Sensors
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  5. Activation of Ras by Post-Translational Modifications
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  6. Systematic identification of novel cancer genes through analysis of deep shRNA perturbation screens
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  8. A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome
    Suzanna Lindsey-Temple, Matthew J. Edwards, Verena Rickassel, Theresa Nauth, Georg Rosenberger · 2022 · European Journal of Human Genetics
  9. Structural and functional analyses of a germline KRAS T50I mutation provide insights into Raf activation
    Panyu Chen, Benjamin J. Huang, Max Harris, Christopher D. Boone, Weijie Wang, Heidi Carias, Brian Mesiona, Daniela Mavrici, Amanda C. Kohler, Gideon E. Bollag et al. · 2023 · JCI Insight
  10. Drugging Ras trafficking—are there new roads to travel?
    Elisabeth Schaffner‐Reckinger, Atanasio Gómez‐Mulas, Daniel Abankwa · 2025 · npj Drug Discovery.
  11. The RAS-Regulated RAF-MEK1/2-ERK1/2 Protein Kinase Pathway: The Path Most Traveled in RASopathies
    Roksana Dutkiewicz, Hayley J. Sharpe, Simon J. Cook · 2024 · Springer eBooks
  12. Physical Interaction between Embryonic Stem Cell-Expressed Ras (ERas) and Arginase-1 in Quiescent Hepatic Stellate Cells
    Silke Pudewell, Jana Lissy, Hossein Nakhaeizadeh, Mohamed S. Taha, Mohammad Akbarzadeh, Soheila Rezaei Adariani, Saeideh Nakhaei‐Rad, Junjie Li, Claus Kordes, Dieter Häussinger et al. · 2022 · Cells
  13. Characterization of the small Arabidopsis thaliana GTPase and ADP-ribosylation factor-like 2 protein TITAN 5
    Inga Mohr, Amin Mirzaiebadizi, Sibaji K. Sanyal, Pichaporn Chuenban, Mohammad Reza Ahmadian, Rumen Ivanov, Petra Bauer · 2024 · Journal of Cell Science
  14. The RAS Signaling Network and Cancer
    Priya S. Hibshman, Channing J. Der · 2024 · Springer eBooks
  15. Investigating the Pathogenicity of Uncommon KRAS Mutations and Their Association with Clinicopathologic Characteristics in Patients with Colorectal Cancer
    Riccardo Adorisio, Davide Ciardiello, Alessandra Rappa, Lorenzo Gervaso, G. Pelizzari, Laura Marinucci, Nicola Fusco, Maria Giulia Zampino, Nicola Fazio, Konstantinos Venetis et al. · 2024 · Journal of Molecular Diagnostics
  16. Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome
    Magdalena Pelc, Elżbieta Ciara, Aleksandra Jezela‐Stanek, Monika Kugaudo, Agata Cieślikowska, Dorota Jurkiewicz, Magdalena Janeczko, Krystyńa Chrzańowska, Małgorzata Krajewska‐Walasek, Agata Skórka · 2016 · Clinical Dysmorphology
  17. Genomic Characterization of High-Grade Serous Ovarian Carcinoma Reveals Distinct Somatic Features in Black Individuals
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  18. KRAS: Structure, function, and development of anticancer drugs
    Dolly A. Parasrampuria, Alex Yu, Nahor Haddish‐Berhane · 2020 · Elsevier eBooks
  19. Developmental effect of RASopathy mutations on neuronal network activity on a chip
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  20. A Comprehensive Analysis of Novel Variations Associated with Bile Duct Cancer: Insights into Expression, Methylation, and 3D Protein Structure
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  21. Prenatal finding of isolated ventricular septal defect: genetic association, outcomes and counseling
    Xin Chen, Qian Zhang, Man Lu, Qiuxia Feng, Litao Qin, Shixiu Liao · 2024 · Frontiers in Genetics
  22. Analysis of correlated mutations in Ras G-domain
    Ekta Pathak · 2017 · Bioinformation
  23. Statistical Analysis of Computed Energy Landscapes to Understand Dysfunction in Pathogenic Protein Variants
    Wanli Qiao, Tatiana Maximova, Erion Plaku, Amarda Shehu · 2017 · ACM International Conference on Bioinformatics, Computational Biology, and Health Informatics (ACM-BCB)
  24. Endogenous locus-driven H-Ras G12V expression induces senescence-like phenotype in primary fibroblasts of the Costello syndrome mouse model
    Saravanakkumar Chennappan, Tanja Schulze, Ion Cristian Cirstea · 2017 · Molecular Life
  25. Cardiofaciocutaneous syndrome with rare structural variant in DOCK8 gene associated with neurodevelopmental disorders
    Domenico Dell’Edera, Lucantonio Debellis, Angela Mitidieri, Annunziata Anna Epifania, Eustachio Cuscianna, Arianna Allegretti · 2020 · Clinical Case Reports
  26. A computational panel of pathological RAS mutants with implications for personalized medicine and genetic medicine
    Chelsey Kenney, Edward C. Stites · 2017 · bioRxiv (Cold Spring Harbor Laboratory)
  27. The impact of job motivation on organizational commitment: A study on travel agencies
    Yunus Emre Kara, Ayşegül Acar · 2023 · Business And Management Studies An International Journal
  28. Search for germinal mutations in insulin-producing pancreatic tumors
    M. Yu. Yukina, Ekaterina Anatol'evna Troshina, Nurana F. Nuralieva, S. V. Popov, O. Yu. Rebrova, Natalia G. Mokrysheva · 2024 · Obesity and metabolism
  29. Biophysical and Biochemical Characterization of Structurally Diverse Small Molecule Hits for KRAS Inhibition
    Cynthia V. Pagba, Amit Kumar Gupta, K. M. Dilsha, Parisa Sadrpour, Jacob L. Jakubec, Priyanka Prakash, Dharini van der Hoeven, Kwang‐Jin Cho, Scott R. Gilbertson, Alemayehu Abebe Gorfe · 2024 · ChemBioChem
  30. The expression of congenital Shoc2 variants induces AKT-dependent crosstalk activation of the ERK1/2 pathway
    Patricia G. Wilson, Lina G. Abdelmoti, Tianyan Gao, Emilia Galperin · 2024 · Human Molecular Genetics
  31. Prognosis conferred by molecular features of appendix-derived Pseudomyxoma Peritonei
    Ruiqing Ma, Guojun Li, Yingjiang Ye, Lei Liang, Chong Wang, Haipeng Zhou, Pu Zhang, Lubiao An, Guanjun Shi, Qian Chen et al. · 2025 · Translational Oncology
  32. Reconstructing and mining protein energy landscape to understand disease
    Wanli Qiao, Tatiana Maximova, Xiaowen Fang, Erion Plaku, Amarda Shehu · 2017 · IEEE International Conference on Bioinformatics and Biomedicine (BIBM)
  33. Computational Random Mutagenesis to Investigate RAS Mutant Signaling
    Edward C. Stites · 2023 · Methods in molecular biology
  34. Small-Molecule Inhibition of KRAS through Conformational Selection
    Cynthia V. Pagba, Amit Kumar Gupta, Alemayehu Abebe Gorfe · 2023 · ACS Omega
  35. The evolution of RAS structural biology
    Dhirendra K. Simanshu, John E. Knox · 2024 · Elsevier eBooks
  36. A Rare Case of Diffuse-type Tenosynovial Giant Cell Tumor in a Teenager With Noonan Syndrome
    Danielle Guiffre, Earl Brien, Wonwoo Shon, Mitchell E. Geffner · 2021 · Journal of Pediatric Hematology/Oncology
  37. Oncogenic mutant RAS signaling activity is rescaled by the ERK/MAPK pathway
    Taryn E. Gillies, Michael Pargett, Jillian M. Silva, Carolyn Teragawa, Frank McCormick, John G. Albeck · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  38. Investigation of KRAS Dependency Bypass and Functional Characterization of All Possible KRAS Missense Variants
    Seav Huong Ly · 2018 · Digital Access to Scholarship at Harvard (DASH) (Harvard University)
  39. Analyse der Auswirkungen von Aminosäuresubstitutionen im humanen CBL-Protein auf die Regulation des epidermalen Wachstumsfaktorrezeptors (EGFR)
    Jugendmedizin · 2012
  40. Using High-Precision Signaling Activity Imaging to Personalize Ras Pathway Inhibition Strategies in Neurofibromatosis
    John G. Albeck, Taryn E. Gillies, Heather Blizard, Michael Pargett · 2017
  41. RAS-патии: синдром Нунан и другие родственные заболевания. Обзор литературы
    Martijn H. J. R. van Faassen · 2014
  42. The genomic landscape of lung adenocarcinoma—insights towards personalized medicine
    Ovleen Kour, Minakshi Garg · 2021 · Proceedings of the Indian National Science Academy
  43. Noonan Syndrome
    Marco Tartaglia, Bruce D. Gelb · 2011 · Wiley eBooks
  44. The structural basis of allosteric communication networks of Ras GTPases and their oncogenic mutants
    Alicia Yvette Volmar · 2020 · Digital Repository Service (Northeastern University)
  45. PKC-alpha promotes phosphorylation of KRAS suppressing its oncogenic properties
    Tejashree Joglekar, Albert Ku, Ethan Schollaert, Yi‐Nan Gong, Jacob Stewart-Ornstein, Anatoly Urisman, Man-Tzu Wang · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  46. Kinase Inhibitors in Genetic Diseases
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  47. Characterization of the small Arabidopsis thaliana GTPase and ADP-ribosylation factor-like 2 protein TITAN 5
    Inga Mohr, Amin Mirzaiebadizi, Sibaji K. Sanyal, Pichaporn Chuenban, Mohammad Reza Ahmadian, Rumen Ivanov, Petra Bauer · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
  48. The expression of congenital Shoc2 variants induces AKT-dependent feedback activation of the ERK1/2 pathway
    Patricia G. Wilson, Lina G. Abdelmoti, Tianyan Gao, Emilia Galperin · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
  49. Defining Pathogenic Variants in RASopathies
    Trevor Smart, Hamsa D. Tadepally, Ryan Webb, Heather Mason‐Suares, Lisa M. Vincent · 2024 · Springer eBooks
  50. Costello Syndrome
    Yoko Aoki, Tetsuya Niihori · 2024 · Springer eBooks
  51. Unveiling KRAS Mutant Structures with AlphaFold 3: New Avenues for Targeted Cancer Therapy
    Guanxue Zhao, Yu Zhao · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  52. Elucidating conformational dynamics of GDP/GTP-KRAS complexes caused by mutations from the switch domain I through Gaussian accelerated molecular dynamics simulations
    Shuhua Shi, Aijia Liu, Yutian Guo · 2026 · Journal of Biomolecular Structure and Dynamics
  53. Génétique et architecture clonale des leucémies myélomonocytaires juvéniles sporadiques et syndromiques
    Aurélie Caye‐Eude · 2018
  54. Characteristics and Outcomes of Patients With Malignancies Prior to Colorectal Cancer: A Propensity Score Matched Analysis
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  55. Synthesis and Biochemical Characterization of Investigational Pyrazolopyrimidine-Based Allosteric KRAS Modulators
    Cynthia V. Pagba, K. M. Dilsha, Rakshya Ojha, Jacob L. Jakubec, Xiaowen Liang, Abraham C. Sianoya, Paul Mark B. Medina, Scott R. Gilbertson, Alemayehu Abebe Gorfe · 2026 · ACS Medicinal Chemistry Letters
  56. New Biochemical Insights into RIT GTPases Regulation and Membrane Interactions
    Amin Mirzaiebadizi, Farhad Bazgir, Niloufar Mosaddeghzadeh, Silke Pudewell, Neda S. Kazemein Jasemi, Radovan Dvorský, Mohammad Reza Ahmadian · 2026 · Cells
  57. Clinical and Molecular Characterization of a Rare KRAS p.Val14Ile Variant in Noonan Syndrome: Integrative Phenotypic Analysis and Molecular Dynamics Simulation
    Xin Li, Sanhua Yang, Xin Liu, Chunqing Li, Xiaotian Wang, 王淑萍, Wentao Yang · 2026 · Research Square
  58. Mouse Models of RAS-Induced Tumors and Developmental Disorders
    Carmen E. Guerra, Mariano Barbacid · 2014 · Springer eBooks