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Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
Capri, Yline, Flex, Elisabetta, Krumbach, Oliver H.F., Carpentieri, Giovanna, Cecchetti, Serena, Lißewski, Christina, Rezaei Adariani, Soheila, Schanze, Denny, Brinkmann, Julia, Piard, Juliette, Pantaleoni, Francesca, Lepri, Francesca R., Goh, Elaine Suk-Ying, Chong, Karen, Stieglitz, Elliot, Meyer, Julia, Kuechler, Alma, Bramswig, Nuria C., Sacharow, Stephanie, Strullu, Marion, Vial, Yoann, Vignal, Cédric, Kensah, George, Cuturilo, Goran, Kazemein Jasemi, Neda S., Dvorsky, Radovan, Monaghan, Kristin G., Vincent, Lisa M., Cavé, Hélène, Verloes, Alain, Ahmadian, Mohammad R., Tartaglia, Marco, Zenker, Martin
Published in American journal of human genetics (06.06.2019)
Published in American journal of human genetics (06.06.2019)
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Journal Article
Complex archaea that bridge the gap between prokaryotes and eukaryotes
Spang, Anja, Saw, Jimmy H., Jørgensen, Steffen L., Zaremba-Niedzwiedzka, Katarzyna, Martijn, Joran, Lind, Anders E., van Eijk, Roel, Schleper, Christa, Guy, Lionel, Ettema, Thijs J. G.
Published in Nature (London) (14.05.2015)
Published in Nature (London) (14.05.2015)
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Journal Article
Host Factor SAMHD1 Restricts DNA Viruses in Non-Dividing Myeloid Cells
Hollenbaugh, Joseph A., Gee, Peter, Baker, Jonathon, Daly, Michele B., Amie, Sarah M., Tate, Jessica, Kasai, Natsumi, Kanemura, Yuka, Kim, Dong-Hyun, Ward, Brian M., Koyanagi, Yoshio, Kim, Baek
Published in PLoS pathogens (01.06.2013)
Published in PLoS pathogens (01.06.2013)
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Journal Article
Mechanical strain stimulates COPII‐dependent secretory trafficking via Rac1
Phuyal, Santosh, Djaerff, Elena, Le Roux, Anabel‐Lise, Baker, Martin J, Fankhauser, Daniela, Mahdizadeh, Sayyed Jalil, Reiterer, Veronika, Parizadeh, Amirabbas, Felder, Edward, Kahlhofer, Jennifer C, Teis, David, Kazanietz, Marcelo G, Geley, Stephan, Eriksson, Leif, Roca‐Cusachs, Pere, Farhan, Hesso
Published in The EMBO journal (15.09.2022)
Published in The EMBO journal (15.09.2022)
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Journal Article
Functions of Rho family of small GTPases and Rho-associated coiled-coil kinases in bone cells during differentiation and mineralization
Strzelecka-Kiliszek, Agnieszka, Mebarek, Saida, Roszkowska, Monika, Buchet, René, Magne, David, Pikula, Slawomir
Published in Biochimica et biophysica acta. General subjects (01.05.2017)
Published in Biochimica et biophysica acta. General subjects (01.05.2017)
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Journal Article
Non-CG methylation and multiple histone profiles associate child abuse with immune and small GTPase dysregulation
Lutz, Pierre-Eric, Chay, Marc-Aurèle, Pacis, Alain, Chen, Gary G., Aouabed, Zahia, Maffioletti, Elisabetta, Théroux, Jean-François, Grenier, Jean-Christophe, Yang, Jennie, Aguirre, Maria, Ernst, Carl, Redensek, Adriana, van Kempen, Léon C., Yalcin, Ipek, Kwan, Tony, Mechawar, Naguib, Pastinen, Tomi, Turecki, Gustavo
Published in Nature communications (18.02.2021)
Published in Nature communications (18.02.2021)
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Journal Article
Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)
Georges, Amandine, Bonneau, Jessica, Bonnefont-Rousselot, Dominique, Champigneulle, Jacqueline, Rabès, Jean P, Abifadel, Marianne, Aparicio, Thomas, Guenedet, Jean C, Bruckert, Eric, Boileau, Catherine, Morali, Alain, Varret, Mathilde, Aggerbeck, Lawrence P, Samson-Bouma, Marie E
Published in Orphanet journal of rare diseases (14.01.2011)
Published in Orphanet journal of rare diseases (14.01.2011)
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Journal Article
High-resolution structures of the SAMHD1 dGTPase homolog from Leeuwenhoekiella blandensis reveal a novel mechanism of allosteric activation by dATP
Klemm, Bradley P., Sikkema, Andrew P., Hsu, Allen L., Horng, James C., Hall, Traci M. Tanaka, Borgnia, Mario J., Schaaper, Roel M.
Published in The Journal of biological chemistry (01.07.2022)
Published in The Journal of biological chemistry (01.07.2022)
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Journal Article
Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS)
de Barcelos, Isabella Peixoto, Woidill, Sarah, Gavazzi, Francesco, Modesti, Nicholson B., Sevagamoorthy, Anjana, Vanderver, Adeline, Adang, Laura
Published in Molecular genetics and metabolism (01.05.2024)
Published in Molecular genetics and metabolism (01.05.2024)
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Journal Article
Carotenoids in familial hypobetalipoproteinemia disorders: Malabsorption in Caco2 cell models and severe deficiency in patients
Bordat, Claire, Cuerq, Charlotte, Halimi, Charlotte, Vairo, Donato, Blond, Emilie, Restier, Liora, Poinsot, Pierre, Duclaux-Loras, Rémi, Peretti, Noël, Reboul, Emmanuelle
Published in Journal of clinical lipidology (01.01.2024)
Published in Journal of clinical lipidology (01.01.2024)
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Journal Article
Upregulated absorption of dietary palmitic acids with changes in intestinal transporters in non-alcoholic steatohepatitis (NASH)
Utsunomiya, Hiroki, Yamamoto, Yasunori, Takeshita, Eiji, Tokumoto, Yoshio, Tada, Fujimasa, Miyake, Teruki, Hirooka, Masashi, Abe, Masanori, Kumagi, Teru, Matsuura, Bunzo, Ikeda, Yoshio, Hiasa, Yoichi
Published in Journal of gastroenterology (01.08.2017)
Published in Journal of gastroenterology (01.08.2017)
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Journal Article
Predominant monomorphism of the RIT2 and GPM6B exceptionally long GA blocks in human and enriched divergent alleles in the disease compartment
Khamse, S., Arabfard, M., Salesi, M., Behmard, E., Jafarian, Z., Afshar, H., Khazaei, M., Ohadi, M.
Published in Genetica (01.02.2022)
Published in Genetica (01.02.2022)
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Journal Article
Rem2, a member of the RGK family of small GTPases, is enriched in nuclei of the basal ganglia
Liput, Daniel J., Lu, Van B., Davis, Margaret I., Puhl, Henry L., Ikeda, Stephen R.
Published in Scientific reports (27.04.2016)
Published in Scientific reports (27.04.2016)
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Journal Article
SAMHD1 transcript upregulation during SIV infection of the central nervous system does not associate with reduced viral load
Buchanan, Erin L., Espinoza, Diego A., McAlexander, Melissa A., Myers, Stephanie L., Moyer, Adam, Witwer, Kenneth W.
Published in Scientific reports (03.03.2016)
Published in Scientific reports (03.03.2016)
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Journal Article
Localization of Rheb to the endomembrane is critical for its signaling function
Buerger, Claudia, DeVries, Ben, Stambolic, Vuk
Published in Biochemical and biophysical research communications (09.06.2006)
Published in Biochemical and biophysical research communications (09.06.2006)
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Journal Article
The human RIT2 core promoter short tandem repeat predominant allele is species-specific in length: a selective advantage for human evolution?
Emamalizadeh, Babak, Movafagh, Abofazl, Darvish, Hossein, Kazeminasab, Somayeh, Andarva, Monavvar, Namdar-Aligoodarzi, Pegah, Ohadi, Mina
Published in Molecular genetics and genomics : MGG (01.06.2017)
Published in Molecular genetics and genomics : MGG (01.06.2017)
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Journal Article
Akr1 attenuates methylmercury toxicity through the palmitoylation of Meh1 as a subunit of the yeast EGO complex
Zhang, Zhi-Ting, Ogiwara, Yousuke, Ito, Yuichi, Hikida, Akinori, Miura, Nobuhiko, Kuge, Shusuke, Naganuma, Akira, Hwang, Gi-Wook
Published in Biochimica et biophysica acta. General subjects (01.07.2017)
Published in Biochimica et biophysica acta. General subjects (01.07.2017)
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Journal Article