Zobrazeno 1 - 10 of 39 pro vyhledávání: '"ras Proteins/genetics"'
1
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery
Autor: Maria I. Kontaridis, Amy E. Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach, Gregor Andelfinger, Yoko Aoki, Marni E. Axelrad, Annette Bakker, Anton M. Bennett, Alberto Broniscer, Pau Castel, Caitlin A. Chang, Lukas Cyganek, Tirtha K. Das, Jeroen Hertog, Emilia Galperin, Shruti Garg, Bruce D. Gelb, Kristiana Gordon, Tamar Green, Karen W. Gripp, Maxim Itkin, Maija Kiuru, Bruce R. Korf, Jeff R. Livingstone, Alejandro López‐Juárez, Pilar L. Magoulas, Sahar Mansour, Theresa Milner, Elisabeth Parker, Elizabeth I. Pierpont, Kevin Plouffe, Katherine A. Rauen, Suma P. Shankar, Shane B. Smith, David A. Stevenson, Marco Tartaglia, Richard Van, Morgan E. Wagner, Stephanie M. Ware, Martin Zenker
Publikováno v: American journal of medical genetics. Part A, vol 188, iss 6
Kontaridis, M I, Roberts, A E, Schill, L, Schoyer, L, Stronach, B, Andelfinger, G, Aoki, Y, Axelrad, M E, Bakker, A, Bennett, A M, Broniscer, A, Castel, P, Chang, C A, Cyganek, L, Das, T K, den Hertog, J, Galperin, E, Garg, S, Gelb, B D, Gordon, K, Green, T, Gripp, K W, Itkin, M, Kiuru, M, Korf, B R, Livingstone, J R, López-Juárez, A, Magoulas, P L, Mansour, S, Milner, T, Parker, E, Pierpont, E I, Plouffe, K, Rauen, K A, Shankar, S P, Smith, S B, Stevenson, D A, Tartaglia, M, Van, R, Wagner, M E, Ware, S M & Zenker, M 2022, ' The seventh international RASopathies symposium : Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery ', American Journal of Medical Genetics. Part A . https://doi.org/10.1002/ajmg.a.62716
American Journal of Medical Genetics, Part A, 188(6), 1915-1927. Wiley-Liss Inc.
RASopathies are a group of genetic disorders that are caused by genes that affect the canonical Ras/mitogen-activated protein kinase (MAPK) signaling pathway. Despite tremendous progress in understanding the molecular consequences of these genetic an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66770a599b697c0d77d007bd425f8e74
https://escholarship.org/uc/item/44s997fh
Zobrazit plný text záznamu
2
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome
Autor: Marialetizia Motta, Maja Solman, Adeline A Bonnard, Alma Kuechler, Francesca Pantaleoni, Manuela Priolo, Balasubramanian Chandramouli, Simona Coppola, Simone Pizzi, Erika Zara, Marco Ferilli, Hülya Kayserili, Roberta Onesimo, Chiara Leoni, Julia Brinkmann, Yoann Vial, Susanne B Kamphausen, Cécile Thomas-Teinturier, Anne Guimier, Viviana Cordeddu, Laura Mazzanti, Giuseppe Zampino, Giovanni Chillemi, Martin Zenker, Hélène Cavé, Jeroen den Hertog, Marco Tartaglia
Publikováno v: Human Molecular Genetics, 31(16), 2766-2778. Oxford University Press
Human Molecular Genetics
We previously molecularly and clinically characterized Mazzanti syndrome, a RASopathy related to Noonan syndrome that is mostly caused by a single recurrent missense variant (c.4A?>?G, p.Ser2Gly) in SHOC2, which encodes a leucine-rich repeat-containi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4274a128c94c54387070cf691ea74309
https://hdl.handle.net/11573/1620615
Zobrazit plný text záznamu
3
Genomic and transcriptomic landscape of conjunctival melanoma
Autor: Rosanna Pescini-Gobert, Beryl Royer-Bertrand, Ikram El Zaoui, Leonidas Zografos, Serge Leyvraz, Nicolo Riggi, Carlo Rivolta, Alexandre Moulin, Marc Folcher, Michael Nicolas, Katarina Cisarova, Virginie G. Peter, Donata Rimoldi, Ann Schalenbourg
Publikováno v: PLoS Genetics, Vol 16, Iss 12, p e1009201 (2020)
PLoS Genetics
PLoS genetics, vol. 16, no. 12, pp. e1009201
Conjunctival melanoma (CJM) is a rare but potentially lethal and highly-recurrent cancer of the eye. Similar to cutaneous melanoma (CM), it originates from melanocytes. Unlike CM, however, CJM is relatively poorly characterized from a genomic point o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9a3eb0b18a9b07247281064ff06625a
https://doaj.org/article/6d13f01c6aab43f98a7237adb4d4366b
Zobrazit plný text záznamu
5
Molecular and Functional Characterization of Circulating Tumor Cells: From Discovery to Clinical Application
Autor: Klaus Pantel, Zahra Eslami-S, Luis Enrique Cortés-Hernández, Catherine Alix-Panabières
Publikováno v: Clinical Chemistry
Clinical Chemistry, American Association for Clinical Chemistry, 2020, 66 (1), pp.97-104. ⟨10.1373/clinchem.2019.303586⟩
BACKGROUNDOne of the objectives for the liquid biopsy is to become a surrogate to tissue biopsies in diagnosis of cancer as a minimally invasive method, with clinical utility in real-time follow-ups of patients. To achieve this goal, it is still nece
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b512907555df9d84e9a4ee41ea857ae
https://hal.umontpellier.fr/hal-02529297
Zobrazit plný text záznamu
6
Genetic Associations With Gestational Duration and Spontaneous Preterm Birth
Autor: David A. Hinds, Bjarke Feenstra, Bo Jacobsson, Nadia K. Litterman, Mika Rämet, Kelli K Ryckman, Lisa M. Muglia, Youna Hu, Jamie Maziarz, Minna K. Karjalainen, Leah C. Kottyan, Carmy Forney, Mauris C. Nnamani, Daniel Miller, Johanna M. Huusko, Matthew T. Weirauch, Ellen A. Nohr, Allison Momany, George Davey Smith, Frank Geller, Xueping Liu, Bruce Bedell, Aarno Palotie, Mihaela Pavlicev, Arun R. Chavan, Louis J. Muglia, Pan Pan Jiang, Kari Teramo, Heather A. Boyd, Mads Melbye, Mikko Hallman, Verena Sengpiel, Günter P. Wagner, Julius Juodakis, Xiaoting Chen, Jonas Bacelis, Ge Zhang, Laura Russell
Publikováno v: Zhang, G, Feenstra, B, Bacelis, J, Liu, X, Muglia, L M, Juodakis, J, Miller, D E, Litterman, N, Jiang, P-P, Russell, L, Hinds, D A, Hu, Y, Weirauch, M T, Chen, X, Chavan, A R, Wagner, G P, Pavličev, M, Nnamani, M C, Maziarz, J, Karjalainen, M K, Rämet, M, Sengpiel, V, Geller, F, Boyd, H A, Palotie, A, Momany, A, Bedell, B, Ryckman, K K, Huusko, J M, Forney, C R, Kottyan, L C, Hallman, M, Teramo, K, Nohr, E A, Davey Smith, G, Melbye, M, Jacobsson, B & Muglia, L J 2017, ' Genetic Associations with Gestational Duration and Spontaneous Preterm Birth ', The New England Journal of Medicine, vol. 377, no. 12, pp. 1156-1167 . https://doi.org/10.1056/NEJMoa1612665
Zhang, G, Feenstra, B, Bacelis, J, Liu, X, Muglia, L M, Juodakis, J, Litterman, N, Hinds, D A, Hu, Y, Weirauch, M T, Chen, X, Chavan, A R, Wagner, G P, Pavličev, M, Nnamani, M C, Maziarz, J, Karjalainen, M K, Rämet, M, Sengpiel, V, Geller, F, Boyd, H A, Palotie, A, Momany, A, Bedell, B, Ryckman, K K, Huusko, J M, Forney, C R, Kottyan, L C, Hallman, M, Teramo, K, Nohr, E A, Smith, G D, Melbye, M, Jacobsson, B & Muglia, L J 2017, ' Genetic associations with gestational duration and spontaneous preterm birth ', New England Journal of Medicine, vol. 377, no. 12, pp. 1156-1167 . https://doi.org/10.1056/NEJMoa1612665
The New England Journal of Medicine
Zhang, G, Feenstra, B, Bacelis, J, Liu, X, Muglia, L M, Juodakis, J, Miller, D E, Litterman, N, Jiang, P P, Russell, L, Hinds, D A, Hu, Y, Weirauch, M T, Chen, X, Chavan, A R, Wagner, G P, Pavličev, M, Nnamani, M C, Maziarz, J, Karjalainen, M K, Ramet, M, Sengpiel, V, Geller, F, Boyd, H A, Palotie, A, Momany, A, Bedell, B, Ryckman, K K, Huusko, J M, Forney, C R, Kottyan, L C, Hallman, M, Teramo, K, Nohr, E A, Davey Smith, G, Melbye, M, Jacobsson, B & Muglia, L J 2018, ' Genetic Associations with Gestational Duration and Spontaneous Preterm Birth ', Obstetrical and Gynecological Survey, vol. 73, no. 2, pp. 83-85 . https://doi.org/10.1097/01.ogx.0000530434.15441.45
Background: Despite evidence that genetic factors contribute to the duration of gestation and the risk of preterm birth, robust associations with genetic variants have not been identified. We used large data sets that included the gestational duratio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49c91222807de9a168bf9bb010ac555b
https://doi.org/10.1097/01.ogx.0000530434.15441.45
Zobrazit plný text záznamu
7
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
Autor: Kim M. Keppler-Noreuil, Abby Sandler, Chiara Leoni, Karlyne M. Reilly, Bronwyn Kerr, Frank McCormick, Anne Goriely, David Neal Franz, Amy E. Roberts, Scott R. Plotkin, Karen W. Gripp, Michael Fisher, Bruce R. Korf, Brigitte C. Widemann, Pinar Bayrak-Toydemir, Kathryn C. Chatfield, Annette Bakker, Karin S. Walsh, Brage S. Andresen, Emma Burkitt-Wright, Florent Elefteriou, Antonio Y. Hardan, Katherine A. Rauen, Bruce D Gelb, Dawn H. Siegel, Ype Elgersma, Lisa Schill, Lisa Schoyer, David A. Stevenson
Publikováno v: Stevenson, D A, Schill, L, Schoyer, L, Andresen, B S, Bakker, A, Bayrak-Toydemir, P, Burkitt-Wright, E, Chatfield, K, Elefteriou, F, Elgersma, Y, Fischer, MJ, Franz, D, Gelb, B, Goriely, A, Gripp, KW, Hardan, A, Keppler-Noreuil, K, Kerr, B, Korf, B, Leoni, C, McCormick, F, Plotkin, S, Rauen, KA, Reilly, K, Roberts, A, Sandler, A, Siegel, D, Walsh, K & Widemann, BC 2016, ' The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway ', American Journal of Medical Genetics. Part A, vol. 170, no. 8, pp. 1959-1966 . https://doi.org/10.1002/ajmg.a.37723
American Journal of Medical Genetics Part A, 170(8), 1959-1966. Wiley-Liss Inc.
American journal of medical genetics. Part A, vol 170, iss 8
The RASopathies are a group of disorders due to variations of genes associated with the Ras/MAPK pathway. Some of the RASopathies include neurofibromatosis type 1 (NF1), Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b081068c6333a3e219e60449b203d5f3
https://doi.org/10.1002/ajmg.a.37723
Zobrazit plný text záznamu
8
Prognostic Significance of RAS Mutations and P53 Expression in Cutaneous Squamous Cell Carcinomas
Autor: Ana Pestana, Margarida Sá Fernandes, Manuel Campos, Sofia Macedo, Agostinho Sanches, Armando Baptista, João Vinagre, Joana Pardal, Rui Batista, José Manuel Lopes, Paula Soares
Publikováno v: Genes
Volume 11
Issue 7
Genes, Vol 11, Iss 751, p 751 (2020)
TP53 is considered the most commonly-altered gene in cutaneous squamous cell carcinoma (cSCC). Conversely, RAS mutations have been reported in a low percentage of cSCC. The objective of our study was to evaluate the frequency of p53 expression and RA
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9774ecc8f78c665d7549c95d89ccbcd5
https://doi.org/10.3390/genes11070751
Zobrazit plný text záznamu
9
Associations between primary tumor RAS, BRAF and PIK3CA mutation status and metastatic site in patients with chemo-resistant metastatic colorectal cancer
Autor: Finn Larsen, Tim Svenstrup Poulsen, Jesper Andreas Palshof, Troels Dreier Christensen, Mette Karen Yilmaz, Dorte Nielsen, Per Pfeiffer, Estrid Høgdall, Benny Vittrup Jensen
Publikováno v: Christensen, T D, Palshof, J A, Larsen, F O, Poulsen, T S, Høgdall, E, Pfeiffer, P, Jensen, B V, Yilmaz, M K & Nielsen, D 2018, ' Associations between primary tumor RAS, BRAF and PIK3CA mutation status and metastatic site in patients with chemo-resistant metastatic colorectal cancer ', Acta Oncologica, vol. 57, no. 8, pp. 1057-1062 . https://doi.org/10.1080/0284186X.2018.1433322
BACKGROUND: Several studies have investigated correlations between metastatic pattern and mutation status in patients with colorectal cancer (CRC). However, most of the studies were small and heterogeneously designed and further research is needed to
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baf98416f75feb7db39e632b0333431b
https://vbn.aau.dk/da/publications/66c3927a-7073-4475-a961-94abcf1b7d6a
Zobrazit plný text záznamu
10
Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea–related Quantitative Trait Locus in Men
Autor: Matthew P. Conomos, Sonia Ancoli-Israel, Simon C. Warby, Beate Stubbe, Phyllis C. Zee, W. Craig Johnson, Xihong Lin, Adrienne M. Stilp, Neomi A. Shah, Daniel J. Gottlieb, Thomas Penzel, Seung Ku Lee, Scott A. Sands, Richa Saxena, Chaolong Wang, Xiaofeng Zhu, Cathy C. Laurie, Zoltán Kutalik, Andrew Bjonnes, Jingjing Liang, Graeme I. Bell, D. Andrew Wellman, Raanan Arens, Susan Redline, Lyle J. Palmer, Alexander Teumer, Kevin J. Gleason, Kent D. Taylor, Emma K. Larkin, Erika W. Hagen, Gregory J. Tranah, Mehdi Tafti, George J. Papanicolaou, Kenneth Rice, Sanjay R. Patel, David R. Hillman, Craig L. Hanis, Chol Shin, Sutapa Mukherjee, Daniel S. Evans, Jerome I. Rotter, Ralf Ewert, Jennifer E. Below, Wendy S. Post, Brian E. Cade, Tamar Sofer, Sina A. Gharib, Raphael Heinzer, Jae Hoon Sul, Sung Chun, Han Chen, Alexis C. Frazier-Wood, Jacqueline M. Lane, José Haba-Rubio, Heming Wang, Timothy A. Thornton, Jose S. Loredo, Alberto R. Ramos, Ali Azarbarzin, Shamil R. Sunyaev, Katie L. Stone, Paul E. Peppard
Publikováno v: American journal of respiratory cell and molecular biology, vol. 58, no. 3, pp. 391-401
American journal of respiratory cell and molecular biology, vol 58, iss 3
Obstructive sleep apnea (OSA) is a common heritable disorder displaying marked sexual dimorphism in disease prevalence and progression. Previous genetic association studies have identified a few genetic loci associated with OSA and related quantitati
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ffcb9b8efdc75ec6d8608da58d9c65
https://europepmc.org/articles/PMC5854957/
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje