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Journal of Biological Chemistry, ISSN 0021-9258, 02/2016, Volume 291, Issue 7, pp. 3124 - 3134
Constitutional heterozygous loss-of-function mutations in the SPRED1 gene cause a phenotype known as Legius syndrome, which consists of symptoms of multiple... 
negative regulation | human genetics | GAP-RELATED DOMAIN | MUTATIONAL SPECTRUM | signal transduction | TYROSINE KINASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | mitogen-activated protein kinase (MAPK) | PHENOTYPE | Ras protein | SPROUTY-RELATED PROTEIN | IDENTIFICATION | NF1 GENE | protein domain | GTPase-activating protein (GAP) | RASOPATHIES | MOLECULAR PATHOLOGY | GROWTH | Proto-Oncogene Proteins p21(ras) - genetics | Humans | Cafe-au-Lait Spots - metabolism | Male | Neurofibromatosis 1 - physiopathology | Intracellular Signaling Peptides and Proteins - metabolism | Mutation, Missense | Recombinant Fusion Proteins - metabolism | MAP Kinase Signaling System | HEK293 Cells | Female | Neurofibromatosis 1 - metabolism | Membrane Proteins - metabolism | Protein Interaction Domains and Motifs | Neurofibromatosis 1 - genetics | Neurofibromin 1 - chemistry | Neurofibromin 1 - metabolism | Intracellular Signaling Peptides and Proteins - genetics | Peptide Fragments - genetics | Proto-Oncogene Proteins p21(ras) - agonists | Genes, Reporter | Proto-Oncogene Proteins p21(ras) - metabolism | Cafe-au-Lait Spots - genetics | Peptide Fragments - metabolism | Genetic Association Studies | Membrane Proteins - genetics | Models, Molecular | Epidermal Growth Factor - metabolism | Cafe-au-Lait Spots - physiopathology | Recombinant Fusion Proteins - chemistry | Amino Acid Transport System A | Point Mutation | Peptide Fragments - chemistry | Membrane Proteins - chemistry | Intracellular Signaling Peptides and Proteins - chemistry | Proto-Oncogene Proteins p21(ras) - antagonists & inhibitors | Protein Conformation | Kinetics | Neurofibromin 1 - genetics | Index Medicus | Molecular Bases of Disease
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2016, Volume 113, Issue 50, pp. E8041 - E8050
Heterotrimeric G proteins are crucial molecular switches that maintain a large number of physiological processes in cells. The signal is encoded into surface... 
QM/MM calculations | GTpase | Arginine finger reaction mechanism | FTIR spectroscopy | ALPHA-SUBUNITS | REGULATORY COMPONENT | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | STEREOCHEMICAL COURSE | TRANSITION-STATE | PRECOCIOUS PUBERTY | arginine finger | GTPASE-ACTIVATING PROTEIN | BIOMOLECULAR SIMULATIONS | MOLECULAR SIMULATION | reaction mechanism | GTPase | THEORETICAL IR SPECTROSCOPY | GTP-Binding Protein alpha Subunits, Gi-Go - genetics | RGS Proteins - genetics | Humans | Heterotrimeric GTP-Binding Proteins - metabolism | Guanosine Triphosphate - metabolism | Spectroscopy, Fourier Transform Infrared | Heterotrimeric GTP-Binding Proteins - genetics | GTP-Binding Protein alpha Subunits, Gi-Go - chemistry | RGS Proteins - chemistry | RGS Proteins - metabolism | Guanosine Triphosphate - chemistry | Neurofibromin 1 - chemistry | Neurofibromin 1 - metabolism | Recombinant Proteins - metabolism | Catalytic Domain | Mutagenesis, Site-Directed | Enzyme Stability | Models, Molecular | Recombinant Proteins - chemistry | Recombinant Proteins - genetics | Molecular Dynamics Simulation | Arginine - chemistry | Hydrolysis | Heterotrimeric GTP-Binding Proteins - chemistry | GTP-Binding Protein alpha Subunits, Gi-Go - metabolism | Arginine | Health aspects | G proteins | Proteins | Physiology | Biochemistry | Catalysis | Mutagenesis | Index Medicus | Biological Sciences | PNAS Plus | MM calculations
Journal Article
by Koczkowska, Magdalena and Chen, Zhenbin and Chen, Yunjia and Callens, Tom and Gomes, Alicia and Sharp, Angela and Johnson, Sherrell and Hsiao, Meng-Chang and Balasubramanian, Meena and Barnett, Christopher P and Becker, Troy A and Ben-Shachar, Shay and Bertola, Debora R and Blakeley, Jaishri O and Burkitt-Wright, Emma M.M and Callaway, Alison and Crenshaw, Melissa and Cunha, Karin S and Cunningham, Mitch and D’Agostino, Maria D and Dahan, Karin and De Luca, Alessandro and Destrée, Anne and Dhamija, Radhika and Eoli, Marica and Evans, D. Gareth R and Galvin-Parton, Patricia and George-Abraham, Jaya K and Gripp, Karen W and Guevara-Campos, Jose and Hanchard, Neil A and Hernández-Chico, Concepcion and Immken, LaDonna and Janssens, Sandra and Jones, Kristi J and Keena, Beth A and Kochhar, Aaina and Liebelt, Jan and Martir-Negron, Arelis and Mahoney, Maurice J and Maystadt, Isabelle and McDougall, Carey and McEntagart, Meriel and Mendelsohn, Nancy and Miller, David T and Mortier, Geert and Morton, Jenny and Pappas, John and Plotkin, Scott R and Pond, Dinel and Rosenbaum, Kenneth and Rubin, Karol and Russell, Laura and Rutledge, Lane S and Saletti, Veronica and Schonberg, Rhonda and Schreiber, Allison and Seidel, Meredith and Siqveland, Elizabeth and Stockton, David W and Trevisson, Eva and Ullrich, Nicole J and Upadhyaya, Meena and van Minkelen, Rick and Verhelst, Helene and Wallace, Margaret R and Yap, Yoon-Sim and Zackai, Elaine and Zonana, Jonathan and Zurcher, Vickie and Claes, Kathleen and Martin, Yolanda and Korf, Bruce R and Legius, Eric and Messiaen, Ludwine M
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 69 - 87
Journal Article
by Rojnueangnit, Kitiwan and Xie, Jing and Gomes, Alicia and Sharp, Angela and Callens, Tom and Chen, Yunjia and Liu, Ying and Cochran, Meagan and Abbott, Mary‐Alice and Atkin, Joan and Babovic‐Vuksanovic, Dusica and Barnett, Christopher P and Crenshaw, Melissa and Bartholomew, Dennis W and Basel, Lina and Bellus, Gary and Ben‐Shachar, Shay and Bialer, Martin G and Bick, David and Blumberg, Bruce and Cortes, Fanny and David, Karen L and Destree, Anne and Duat‐Rodriguez, Anna and Earl, Dawn and Escobar, Luis and Eswara, Marthanda and Ezquieta, Begona and Frayling, Ian M and Frydman, Moshe and Gardner, Kathy and Gripp, Karen W and Hernández‐Chico, Concepcion and Heyrman, Kurt and Ibrahim, Jennifer and Janssens, Sandra and Keena, Beth A and Llano‐Rivas, Isabel and Leppig, Kathy and McDonald, Marie and Misra, Vinod K and Mulbury, Jennifer and Narayanan, Vinodh and Orenstein, Naama and Galvin‐Parton, Patricia and Pedro, Helio and Pivnick, Eniko K and Powell, Cynthia M and Randolph, Linda and Raskin, Salmo and Rosell, Jordi and Rubin, Karol and Seashore, Margretta and Schaaf, Christian P and Scheuerle, Angela and Schultz, Meredith and Schorry, Elizabeth and Schnur, Rhonda and Siqveland, Elizabeth and Tkachuk, Amanda and Tonsgard, James and Upadhyaya, Meena and Verma, Ishwar C and Wallace, Stephanie and Williams, Charles and Zackai, Elaine and Zonana, Jonathan and Lazaro, Conxi and Claes, Kathleen and Korf, Bruce and Martin, Yolanda and Legius, Eric and Messiaen, Ludwine
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1052 - 1063
Journal Article
Journal Article
DMM Disease Models and Mechanisms, ISSN 1754-8403, 11/2012, Volume 5, Issue 6, pp. 881 - 894
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 11/2005, Volume 280, Issue 47, pp. 39524 - 39533
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2005, Volume 77, Issue 6, pp. 1092 - 1101
Journal Article
Journal Article