Stops along the RAS pathway in human genetic disease

Cited by (193)

Items 101–193 of 193

1. SOS1 mutations are rare in human malignancies: Implications for Noonan syndrome patients
   Kenneth D. Swanson, Jordan Michael Winter, Marcelo Martins Reis, Mohamed Bentires‐Alj, Heidi E. Greulich, Rupinder Grewal, Ralph H. Hruban, Charles J. Yeo, Yosuf Yassin, Oleg Iartchouk et al. · 2007 · Genes Chromosomes and Cancer
2. Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation
   Lothar Gremer, Alessandro De Luca, Torsten Merbitz-Zahradnik, Bruno Dallapiccola, Susanne Morlot, Marco Tartaglia, Kerstin Kutsche, Mohammad Reza Ahmadian, Georg Rosenberger · 2009 · Human Molecular Genetics
3. Heart defects and other features of the 22q11 distal deletion syndrome
   Christina Ringmann Fagerberg, Jesper Graakjær, Ulrike Dunkhase‐Heinl, Lilian Bomme Ousager, Inken Dreyer, Maria Kirchhoff, Anders Aamann Rasmussen, Charlotte Kvist Lautrup, Niels Birkebæk, Keld Ejvind Sørensen · 2012 · European Journal of Medical Genetics
4. Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: A review
   Marni E. Axelrad, David D. Schwartz, Jennifer M. Katzenstein, Elizabeth Hopkins, Karen Webster Gripp · 2011 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
5. Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models
   Jadwiga Schreiber, Laura-Anne Grimbergen, Iris E. Overwater, Thijs van der Vaart, Jeffrey Stedehouder, Alberto J. Schuhmacher, Carmen E. Guerra, Steven A. Kushner, Dick Jaarsma, Ype Elgersma · 2017 · Scientific Reports
6. What’s new in the neuro-cardio-facial-cutaneous syndromes?
   Ellen Denayer, Eric Legius · 2007 · European Journal of Pediatrics
7. Dentate Gyrus Development Requires ERK Activity to Maintain Progenitor Population and MAPK Pathway Feedback Regulation
   Joseph Vithayathil, Joanna Pucilowska, Lawrence Henry Goodnough, Radhika P. Atit, Gary E. Landreth · 2015 · Journal of Neuroscience
8. Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma
   Marjolijn C.J. Jongmans, Peter M. Hoogerbrugge, Linda Hilkens, Uta E. Flucke, Ineke van der Burgt, C. Noordam, Martina Ruiterkamp‐Versteeg, Helger G. Yntema, Willy M. Nillesen, Marjolijn J. L. Ligtenberg et al. · 2010 · Genes Chromosomes and Cancer
9. Feedback activation of neurofibromin terminates growth factor-induced Ras activation
   Anne Hennig, Robby Markwart, Katharina Wolff, Katja Schubert, Yan Cui, Ian A. Prior, Manuel A. Esparza-Franco, Graham Ladds, Ignacio Rubio · 2016 · Cell Communication and Signaling
10. Sotos Syndrome Is Associated with Deregulation of the MAPK/ERK-Signaling Pathway
    Remco Visser, Ellie B. M. Landman, Jelle J. Goeman, Jan Maarten Wit, Marcel Karperien · 2012 · PLoS ONE
11. SH2 Domain-Containing Protein-Tyrosine Phosphatases
    Benjamin G. Neel, Gordon Chan, Salim Dhanji · 2010 · Elsevier eBooks
12. Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis
    Yah‐Huei Wu Chou, Tzu-Chao Hung, Yin-Ting Lin, Hsing-Wen Cheng, Ju-Li Lin, Chih-Hung Lin, Chung-Chih Yu, Kuo‐Ting Chen, Tu‐Hsueh Yeh, Yu-Ray Chen · 2018 · Journal of Biomedical Science
13. Coffin–Lowry syndrome: A role for RSK2 in mammalian neurogenesis
    Sagar B. Dugani, Annie Paquin, David R. Kaplan, Freda D. Miller · 2010 · Developmental Biology
14. The MAPK Erk5 is necessary for proper skeletogenesis involving a Smurf-Smad-Sox9 molecular axis
    Takashi Iezaki, Kazuya Fukasawa, Tetsuhiro Horie, Gyujin Park, Samuel T. Robinson, Michio Nakaya, Hiroyuki Fujita, Yuki Onishi, Kakeru Ozaki, Takashi Kanayama et al. · 2018 · Development
15. The Neurofibromatoses: Classification, Clinical Features and Genetic Counselling
    Susan Huson · 2008 · KARGER eBooks
16. Human-Induced Pluripotent Stem Cells: In Quest of Clinical Applications
    Rosalinda Madonna · 2012 · Molecular Biotechnology
17. Two novel germline KRAS mutations: expanding the molecular and clinical phenotype
    Zornitza Stark, G Gillessen‐Kaesbach, Monique M. Ryan, Ion Cristian Cirstea, Lothar Gremer, MR Ahmadian, Ravi Savarirayan, Martin Zenker · 2011 · Clinical Genetics
18. PKC-epsilon activation is required for recognition memory in the rat
    Styliani Zisopoulou, Olga Asimaki, George Leondaritis, Anna Vasilaki, Nikos Sakellaridis, Nikolaos Pitsikas, Dimitra A. Mangoura · 2013 · Behavioural Brain Research
19. Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome
    Jean‐Baptiste Le Pichon, Shihui Yu, Nataliya Kibiryeva, William David Graf, Douglas C. Bittel · 2013 · European Journal of Human Genetics
20. High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome
    Tracy Busse, John M. Graham, Gerald L. Feldman, Juan Carlos Perin, Anne Catherwood, Robert Knowlton, Eric F. Rappaport, Beverly S. Emanuel, Deborah A. Driscoll, Sulagna C. Saitta · 2010 · Human Mutation
21. A proteomic approach to understand MMP‐3‐driven developmental processes in the postnatal cerebellum: Chaperonin CCT6A and MAP kinase as contributing factors
    Inge Van Hove, Mieke Verslegers, Tjing‐Tjing Hu, Martin J. Carden, Lut Arckens, Lieve Moons · 2015 · Developmental Neurobiology
22. Retinoic-acid-mediated HRas stabilization induces neuronal differentiation of neural stem cells during brain development
    Jong‐Chan Park, Woo-Jeong Jeong, Mi‐Yeon Kim, Do‐Sik Min, Kang‐Yell Choi · 2016 · Journal of Cell Science
23. Macrocyclic MEK1/2 inhibitor with efficacy in a mouse model of cardiomyopathy caused by lamin A/C gene mutation
    Wei Wu, Mahendra D. Chordia, Barry P. Hart, E. Sathyajith Kumarasinghe, Min Kim Ji, Ajay Bhargava, Michael William Lawlor, Ji‐Yeon Shin, Fusako Sera, Shunichi Homma et al. · 2016 · Bioorganic & Medicinal Chemistry
24. Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?
    Gabriela Ferraz Leal, Elias O. Silva, Andrea Rezende Duarte, João F. Campos · 2008 · American Journal of Medical Genetics Part A
25. Modeling RASopathies with Genetically Modified Mouse Models
    Isabel Hernández-Porras, Carmen E. Guerra · 2016 · Methods in molecular biology
26. NF1 Gene Structure and NF1 Genotype/Phenotype Correlations
    Meena Upadhyaya · 2008 · KARGER eBooks
27. SHP-2 deletion in postmigratory neural crest cells results in impaired cardiac sympathetic innervation
    Jacquelyn D. Lajiness, Paige L. Snider, Jian Wang, Gen‐Sheng Feng, Maike Krenz, Simon James Conway · 2014 · Proceedings of the National Academy of Sciences
28. Neurofibromatosis type 1: Its association with the Ras/MAPK pathway syndromes
    Emma Bennett, Nick S. T. Thomas, Meena Upadhyaya · 2009 · Journal of Pediatric Neurology
29. Genetics for the Pediatric Anesthesiologist
    Jeffrey L. Galinkin, Laurie Demmer, Myron Yaster · 2010 · Anesthesia & Analgesia
30. Natural Products Attenuating Biosynthesis, Processing, and Activity of Ras Oncoproteins: State of the Art and Future Perspectives
    Renata Tisi, Vadim Gaponenko, Marco Vanoni, Elena Sacco · 2020 · Biomolecules
31. The INT6 Cancer Gene and MEK Signaling Pathways Converge during Zebrafish Development
    Michal Grzmil, Danny Whiting, John Maule, Corina Anastasaki, James F. Amatruda, Robert Neil Kelsh, Chris J. Norbury, E. Elizabeth Patton · 2007 · PLoS ONE
32. Non-Hodgkin Lymphoma in a Patient With Cardiofaciocutaneous Syndrome
    Akira Ohtake, Yoko Aoki, Yuka Saito, Tetsuya Niihori, Atsushi Shibuya, Shigeo Kure, Yoichi Matsubara · 2010 · Journal of Pediatric Hematology/Oncology
33. MEK1 and MEK2 differentially control the duration and amplitude of the ERK cascade response
    Paweł Kocieniewski, Tomasz Lipniacki · 2013 · Physical Biology
34. Sending out an SOS
    Kevin Shannon, Gideon E. Bollag · 2006 · Nature Genetics
35. C hronic impairment of ERK signaling in glutamatergic neurons of the forebrain does not affect spatial memory retention and LTP in the same manner as acute blockade of the ERK pathway
    Joseph Vithayathil, Joanna Pucilowska, David D. Friel, Gary E. Landreth · 2017 · Hippocampus
36. The impact of the genetic background in the Noonan syndrome phenotype induced by K-RasV14I
    Isabel Hernández-Porras, Beatriz Jiménez-Catalán, Alberto J. Schuhmacher, Carmen E. Guerra · 2015 · Rare Diseases
37. Ciblage de la voie de signalisation RAS pour le traitement des cancers
    Laura Mansi, Erika Viel, Elsa Curtit, Jacques Médioni, Christophe Le Tourneau · 2011 · Bulletin du Cancer
38. The other side of Turner's: Noonan's syndrome
    Pankaj Agarwal, Rajeev Philip, Manish Gutch, K. K. Gupta · 2013 · Indian Journal of Endocrinology and Metabolism
39. Ulerythema Ophryogenes, A Rarely Reported Cutaneous Manifestation of Noonan Syndrome: Case Report and Review of the Literature
    Kayi Li, Mary Ann Thomas, Richard M. Haber · 2013 · Journal of Cutaneous Medicine and Surgery
40. H-Ras induces Nrf2-Pin1 interaction: Implications for breast cancer progression
    Soma Saeidi, Su‐Jung Kim, Hyeong‐jun Han, Seong Hoon Kim, Jie Zheng, Han‐Byoel Lee, Wonshik Han, Dong‐Young Noh, Hye‐Kyung Na, Young‐Joon Surh · 2020 · Toxicology and Applied Pharmacology
41. Ras-Association Domain Family Member 1A (RASSF1A)—Where the Heart and Cancer Meet
    Delvac Oceandy, Elizabeth J. Cartwright, Ludwig Neyses · 2009 · Trends in Cardiovascular Medicine
42. RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis
    Samantha Y. Wong, Yu Xuan Tan, Abigail Loh, Kiat Yi Tan, Hane Lee, Zainab Aziz, Stanley F. Nelson, Engin Özkan, Hülya Kayserili, Nathalie Escande‐Beillard et al. · 2023 · EMBO Molecular Medicine
43. Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway
    Munkhtuya Tumurkhuu, Makiko Saitoh, Atsushi Sato, Kan Takahashi, Masakazu Mimaki, Junko Takita, Kazuhide Takeshita, Takehiro Hama, Akira Oka, Masashi Mizuguchi · 2009 · Pediatrics International
44. Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities
    Brigitte Gilbert‐Dussardier, Audrey Briand‐Suleau, Ingrid Laurendeau, Frédéric Bilan, Hélène Cavé, Alain Verloès, Michel Vidaud, Dominique Vidaud, Éric Pasmant · 2016 · Orphanet Journal of Rare Diseases
45. Signalling Pathways in Development and Human Disease: A Drosophila Wing Perspective
    Cristina Molnar, Martín Resnik-Docampo, F. Maria, Mercedes Martín, Covadonga F. Hevia, José Félix de Celis · 2011 · InTech eBooks
46. Pax6 affects Ras-Raf-ERK1/2 in mouse aging brain
    Khushboo Srivastava, Rajnikant Mishra · 2023 · Biogerontology
47. Molecular Causes of the Cardio-Facio-Cutaneous Syndrome
    William E. Tidyman, Katherine A. Rauen · 2008 · Monographs in human genetics
48. Enhanced SMAD1 Signaling Contributes to Impairments of Early Development in CFC-iPSCs
    Kyu-Min Han, Seung-Kyoon Kim, Dong‐Kyu Kim, Jung-Yun Choi, Ilkyun Im, Kyu‐Seok Hwang, Cheol‐Hee Kim, Beom Hee Lee, Han‐Wook Yoo, Yong‐Mahn Han · 2015 · Stem Cells
49. Catalytically active membrane‐distal phosphatase domain of receptor protein‐tyrosine phosphatase α is required for Src activation
    Andrei Mircea Vacaru, Jeroen den Hertog · 2010 · FEBS Journal
50. Pulmonary Hypertension in the RASopathies
    Jacqueline A. Noonan · 2019
51. Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: Clinical and molecular findings in 11 patients
    Atilano Carcavilla, Sixto García‐Miñáur, Antonio Pérez Aytés, Teresa Vendrell, Isabel Pinto, Encarna Guillén‐Navarro, Antonio González‐Meneses, Yoko Aoki, Daniel Grinberg, Begoña Ezquieta · 2015 · Medicina Clínica (English Edition)
52. Syndromes neuro-cardio-facio-cutanés
    D. Bessis · 2011 · Annales de Dermatologie et de Vénéréologie
53. Noonan syndrome: lessons learned from genetically modified mouse models
    Alberto J. Schuhmacher, Isabel Hernández-Porras, Raquel García-Medina, Carmen E. Guerra · 2017 · Expert Review of Endocrinology & Metabolism
54. Genotype-Phenotype Correlations in Noonan Syndrome
    Anna Sárközy, M. C. Digilio, Bruno Marino, Bruno Dallapiccola · 2008 · Monographs in human genetics
55. History of Noonan Syndrome and Related Disorders
    Jacqueline A. Noonan · 2008 · Monographs in human genetics
56. Síndrome cardiofaciocutáneo, un trastorno relacionado con el síndrome de Noonan: hallazgos clínicos y moleculares en 11 pacientes
    Atilano Carcavilla, Sixto García‐Miñáur, Antonio Pérez Aytés, Teresa Vendrell, Isabel Pinto, Encarna Guillén‐Navarro, Antonio González‐Meneses, Yoko Aoki, Daniel Grinberg, Begoña Ezquieta · 2014 · Medicina Clínica
57. Proliferation and arrest
    Richard C. Allen · 2015 · Current Opinion in Ophthalmology
58. The genetics of heart failure
    Giuseppe Limongelli, Perry M Elliot · 2022
59. Altérations du PRC2 au sein des tumeurs malignes associées à la neurofibromatose de type 1 : des cellules de Schwann sans aucun complexe !
    Armelle Luscan, Dominique Vidaud, Nicolás Ortonne, P. Wolkenstein, Michel Vidaud, Éric Pasmant · 2014 · médecine/sciences
60. BRAF Gene Deletion Broadens the Clinical Spectrum Neuro-Cardio-Facial-Cutaneous Syndromes
    Shihui Yu, William David Graf · 2011 · Journal of Child Neurology
61. Noonan Syndrome—Historical Awareness and Genetic Issues
    Jacqueline A. Noonan · 2008 · US Endocrinology
62. Cross-Regulation of JAK-STAT Signaling: Implications for Approaches to Combat Chronic Inflammatory Diseases and Cancers
    Claire Louise Rutherford, Hayley D., Timothy M. · 2012 · InTech eBooks
63. Increased nuchal translucency: it’s not just aneuploidy
    Reema Kumar Bhatt, Pranjali Dwivedi, Anubhuti Rana · 2020 · International Journal of Reproduction Contraception Obstetrics and Gynecology
64. Q241R mutation of Braf causes neurological abnormalities in a mouse model of cardio-facio-cutaneous syndrome, independent of developmental malformations
    Akira Moriya, Shin-ichi Inoue, Fumihito Saitow, Moe Keitoku, Nobuo Suzuki, Etsumi Oike, Eriko Urano, Eiko Matsumoto, Hidenori Suzuki, Yoko Aoki et al. · 2025 · Human Molecular Genetics
65. Warty skin changes, chronic scrotal lymphoedema, and facial dysmorphism
    Moritz Felcht, Nicola Dikow, M. Goebeler, Philipp Ströbel, Nina Booken, Urs Voßmerbäumer, Kirsten Merx, Thomas Henzler, Alexander Marx, Ute Moog et al. · 2010 · BMJ Case Reports
66. ERK1 and ERK2 play essential roles in osteoblast differentiation and in supporting osteoclastogenesis
    Takehiko Matsushita, Yuk Yu Chan, Aya Kawanami, Gener C Balmes, Gary E. Landreth, Shunichi Murakami · 2009
67. Induced Pluripotent Stem Cells for Cardiac Regeneration
    Rosalinda Madonna, Péter Ferdinandy, Rainer Schulz · 2015 · Stem cell biology and regenerative medicine
68. FOXI2: a possible gene contributing to ectodermal dysplasia
    Mazen Kurban, Savo Bou Zein Eddine, Lamiaa Hamie, Rémi Safi, Ossama M. Abbas, Abdul‐Ghani Kibbi, Fadi Fouad Bitar, Georges M. Nemer · 2017 · European Journal of Dermatology
69. Mitogen-Activated Protein Kinases
    Sylvain Meloche · 2012 · Springer eBooks
70. Oncogenic MAPK pathway activation disrupts Schwann cell fate commitment, inducing congenital and progressive neuropathy in mice
    Elise Maréchal, Daniel Aldea, Patrice Quintana, Grégoire Mondielli, Nathalie Bernard-Marissal, Mathias Moreno, Claire El Yazidi, Natacha Broucqsault, Valérie Delague, Lauren A. Weiss et al. · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
71. Investigação das quinases Aurora A e Aurora B como potenciais alvos terapêuticos no câncer de pulmão induzido pelo oncogene KRAS
    Edmilson Ozorio dos Santos · 2013
72. Tumors of the Adrenal Gland
    Simon Ching-Shun Kao, Alfredo Pinto-Rojas · 2014 · Springer eBooks
73. Isolated Pulmonary Valvular Stenosis Noonan Syndrome A Case Report
    Md Abu Siddique, Md Mhurshid Ahmed, Md Durul Hoda, Yeshey Penjore, Syed Ali Ahsan, Md Ashraf Uddin Sultan, Mohammad Salman, Bikash Subedi · 1970 · University Heart Journal
74. Voie Ras-MAPK et anomalies du développement: syndromes de Noonan, Costello, cardio-facio-cutané et LEOPARD
    Nadine Hanna, Béatrice Parfait, Nicole Philip, Michel Vidaud · 2009 · Springer eBooks
75. Syndrome LEOPARD et carcinome épidermoïde labial : présentation d’un cas
    Chérifa Faïza Tabeti-Bentahar, Fatma Bouzouina, Amina Nouria Tabeti-Hamza · 2012 · Médecine Buccale Chirurgie Buccale
76. Genetics of Noonan syndrome – a new gene, and the search is still on
    RA Stein · 2007 · Clinical Genetics
77. Molecular and Cellular Mechanisms of Learning Disabilities: A Focus on Neurofibromatosis Type I
    Carrie Shilyansky, Weidong Li, Maria T. Acosta, Ype Elgersma, Frances Hannan, Molly E. Hardt, K. Hunter-Schaedle, Lianne C. Krab, Eric Legius, Brian Joseph Wiltgen et al. · 2008 · Elsevier eBooks
78. Analyse der Auswirkungen von Aminosäuresubstitutionen im humanen CBL-Protein auf die Regulation des epidermalen Wachstumsfaktorrezeptors (EGFR)
    Jugendmedizin · 2012
79. LETTER TO JMG SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
    Martin Zenker, Denise Horn, Dagmar Wieczorek, Judith E Allanson, Silke Pauli, Ineke Van Der Burgt, Helmuth-Guenther Doerr, Harald Gaspar, Michael Hofbeck, Gabriele Gillessen-kaesbach et al. · 2015
80. Spectrum of Genetic Diseases and Management
    Bronwyn A. Kerr · 2016 · Elsevier eBooks
81. Functions of P38 and ERK kinases in zebrafish early development
    Hanan Rian · 2014 · Leiden Repository (Leiden University)
82. The Molecular Pathogenesis of Noonan Syndrome-Associated RAF1 Mutations
    Xue Wu · 2014 · TSpace (University of Toronto)
83. Investigação das quinases Aurora A e Aurora B na tumorigenicidade mediada pelo oncogene KRAS
    Edmilson Ozorio dos Santos · 2017 · Digital Library of Theses and Dissertations (Universidade de São Paulo)
84. Getting “Ras”-ults: Solving Molecular Promiscuity through Microdomain-Selective Targeting
    Steven A. Connor, Yu Tian Wang · 2018 · Neuron
85. The Tumor Suppressor RASSF1A Links Inflammation and Cancer
    Marilyn Gordon · 2015 · ERA: Education and Research Archive (University of Alberta)
86. Leopard syndrome: multiple lentiginosis and hypertrophic cardiomyopathy. Clinical case
    A.А. Malska, O.B. Kuryliak · 2019 · Ukrainian journal of Perinatology and Pediatrics
87. Phosphorylation of Smurf2 at Thr249 by Erk5 regulates TGF-β signaling
    Takashi Iezaki, Eiichi Hinoi · 2021 · Folia Pharmacologica Japonica
88. Costello Syndrome and the Ras-Extracellular Signal Regulated Kinase (ERK) Pathway
    I Pascual-Castroviejo, Martino Ruggieri · 2008 · Springer eBooks
89. Faculty Opinions recommendation of Identification of RASAL1 as a major tumor suppressor gene in thyroid cancer.
    Giancarlo Vecchio, Rosa Marina Melillo · 2013 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
90. Syndromes neuro-cardio-facio-cutanés
    Charlotte Pernet, D. Bessis · 2012 · Springer eBooks
91. Syndromic growth disorders
    Thomas Édouard, M. Tauber · 2011
92. BindingDB Entry 2778: Inhibitors of Src homology-2 domain containing protein tyrosine phosphatase-2 (Shp2) based on oxindole scaffolds.
    BindingDB · 2008 · UC San Diego
93. BindingDB Entry 50048238: Macrocyclic MEK1/2 inhibitor with efficacy in a mouse model of cardiomyopathy caused by lamin A/C gene mutation.
    BindingDB · 2018 · UC San Diego