Výsledky vyhledávání - "Adaptor Proteins, Signal Transducing/genetics"

The Small GTPase RHOA Links SLP65 Activation to PTEN Function in Pre B Cells and Is Essential for the Generation and Survival of Normal and Malignant B Cells

Publikováno v: Vadakumchery, A, Faraidun, H, Ayoubi, O E, Outaleb, I, Schmid, V, Abdelrasoul, H, Amendt, T, Khadour, A, Setz, C, Göhring, K, Lodd, K, Hitzing, C, Alkhatib, A, Bilal, M, Benckendorff, J, Al Shugri, A K, Brakebusch, C H, Engels, N, Datta, M, Hobeika, E, Alsadeq, A & Jumaa, H 2022, ' The Small GTPase RHOA Links SLP65 Activation to PTEN Function in Pre B Cells and Is Essential for the Generation and Survival of Normal and Malignant B Cells ', Frontiers in Immunology, vol. 13, 842340 . https://doi.org/10.3389/fimmu.2022.842340

The generation, differentiation, survival and activation of B cells are coordinated by signals emerging from the B cell antigen receptor (BCR) or its precursor, the pre-BCR. The adaptor protein SLP65 (also known as BLNK) is an important signaling fac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be4cb8226dad309d9aaf86d5a129e99f

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Talin rod domain–containing protein 1 (TLNRD1) is a novel actin-bundling protein which promotes filopodia formation

Autor: Cowell, Alana R, Jacquemet, Guillaume, Singh, Abhimanyu K, Varela, Lorena, Nylund, Anna S, Ammon, York-Christoph, Brown, David G, Akhmanova, Anna, Ivaska, Johanna, Goult, Benjamin T, Sub Cell Biology, Celbiologie

Publikováno v: The Journal of Cell Biology
Journal of Cell Biology, 220(9). Rockefeller University Press

Cowell et al. show that talin rod domain–containing protein 1 (TLNRD1), a protein with homology to the central region of the integrin regulator, talin, has retained the diverse interactions of talin R7R8 but has developed distinct functionality as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b79cfdb097e151a8bbee3796dc610be
http://europepmc.org/articles/PMC8287531

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Fusion transcripts FYN-TRAF3IP2 and KHDRBS1-LCK hijack T cell receptor signaling in peripheral T-cell lymphoma, not otherwise specified

Autor: Daan Dierickx, Philippe Gaulard, Carlos Graux, Koen Debackere, Laurence de Leval, Nicole Mentens, Jan Cools, Lucienne Michaux, Kris Jacobs, Thomas Tousseyn, Sofie Demeyer, Olga Gielen, Michaël Broux, Iwona Wlodarska, Marlies Vanden Bempt, Lukas Marcelis, Gregor Verhoef

Publikováno v: Nature communications, vol. 12, no. 1, pp. 3705
Nature communications, Vol. 12, no.1, p. 3705 (2021)
Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)
Nature Communications

Peripheral T-cell lymphoma (PTCL) is a heterogeneous group of non-Hodgkin lymphomas with poor prognosis. Up to 30% of PTCL lack distinctive features and are classified as PTCL, not otherwise specified (PTCL-NOS). To further improve our understanding

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::133ce4ef8eab96b32fc1be9ac3896731
https://doi.org/10.1038/s41467-021-24037-4

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Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23

Autor: Magdalena Harakalova, Benjamin Meder, Philippe Charron, Manuel Gómez-Bueno, Jorg J. A. Calis, François Cambien, David-Alexandre Trégouët, Maurizia Grasso, Steven McGinn, Uwe Völker, Thomas Meitinger, Stefan Weiss, L. Duboscq-Bidot, Richard Dorent, Vera Regitz-Zagrosek, Folkert W. Asselbergs, Hélène Blanché, Olivier Dubourg, Patrick Lacolley, Pierre Boutouyrie, Delphine Bacq-Daian, Vincent Fontaine, Volker Ruppert, Marine Germain, K Lehnert, Jean-Noël Trochu, Stuart A. Cook, Angélique Curjol, Brendan J. Keating, Ibticem Raji, Anne Boland, J. Erdmann, Michael Morley, Jean-François Aupetit, Paloma Remior, Luigi Tavazzi, Gérard Roizès, Michal Mokry, Konstantin Strauch, Richard Isnard, Jean-Philippe Empana, Robert Olaso, Kenneth B. Marguiles, Zofia T. Bilińska, Stephan B. Felix, Marcus Dörr, Thomas P. Cappola, Stefan Blankenberg, Jan Haas, Céline Besse, Jean-François Deleuze, Christine E. Seidman, Christian Hengstenberg, Jessica van Setten, Hakon Hakonarson, Sanjay K Prasad, Daiane Hemerich, Pascal de Groote, Thomas Wichter, Alain van Mil, Michel Komajda, Renee Maas, Carole Proust, Declan P. O'Regan, Xavier Jouven, Ganapathi Varma Saripella, Georgios Kararigas, Eloisa Arbustini, Jin Li, Klaus Stark, Laurent Fauchier, Flavie Ader, Melanie Waldenberger, Martina Müller-Nurasyid, Eric Villard, Sophie Garnier

Publikováno v: European heart journal, 42(20), 2000-2011. Oxford University Press
European Heart Journal
European Heart Journal, Oxford University Press (OUP): Policy B, 2021, ⟨10.1093/eurheartj/ehab030⟩
European Heart Journal, 2021, 42 (20), pp.2000-2011. ⟨10.1093/eurheartj/ehab030⟩

Aims Our objective was to better understand the genetic bases of dilated cardiomyopathy (DCM), a leading cause of systolic heart failure. Methods and results We conducted the largest genome-wide association study performed so far in DCM, with 2719 ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d2fb4a5751c8873677e1b542fdd8c3a
https://pure.amc.nl/en/publications/genomewide-association-analysis-in-dilated-cardiomyopathy-reveals-two-new-players-in-systolic-heart-failure-on-chromosomes-3p251-and-22q1123(8df098a2-4e2b-436a-8594-9c6ed3e705d8).html

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A NOVEL TRAF3IP2 MUTATION CAUSING CHRONIC MUCOCUTANEOUS CANDIDIASIS

Autor: Catarina Martins, Filipa Marujo, Ana Cordeiro, Simon J. Pelham, João Farela Neves, Wei-Te Lei, João Freixo, Anne Puel, Jean-Laurent Casanova

Publikováno v: J Clin Immunol

Inborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous muta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::622d82b9cb887a7c5bfd6f9790445e39
https://europepmc.org/articles/PMC8316359/

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Loss of Ambra1 promotes melanoma growth and invasion

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
Di Leo, L, Bodemeyer, V, Bosisio, F M, Claps, G, Carretta, M, Rizza, S, Faienza, F, Frias, A, Khan, S, Bordi, M, Pacheco, M P, Di Martino, J, Bravo-Cordero, J J, Daniel, C J, Sears, R C, Donia, M, Madsen, D H, Guldberg, P, Filomeni, G, Sauter, T, Robert, C, De Zio, D & Cecconi, F 2021, ' Loss of Ambra1 promotes melanoma growth and invasion ', Nature Communications, vol. 12, 2550 . https://doi.org/10.1038/s41467-021-22772-2
Autophagy
Di Leo, L, Bodemeyer, V, Bosisio, F M, Claps, G, Carretta, M, Rizza, S, Faienza, F, Frias, A, Khan, S, Bordi, M, Pacheco, M P, Di Martino, J, Bravo-Cordero, J J, Daniel, C J, Sears, R C, Donia, M, Madsen, D H, Guldberg, P, Filomeni, G, Sauter, T, Robert, C, De Zio, D & Cecconi, F 2021, ' Loss of Ambra1 promotes melanoma growth and invasion ', Nature Communications, vol. 12, no. 1, 2550, pp. 2550 . https://doi.org/10.1038/s41467-021-22772-2

Melanoma is the deadliest skin cancer. Despite improvements in the understanding of the molecular mechanisms underlying melanoma biology and in defining new curative strategies, the therapeutic needs for this disease have not yet been fulfilled. Here

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c573012ecdeefa0c085f95b995c5a747
http://orbilu.uni.lu/handle/10993/47062

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Mutational mechanism for DAB1 (ATTTC) n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution

Autor: Cristina Costa, Paula Coutinho, Carolina Mota, Jorge Sequeiros, Claudia L. Oliveira, Sandra Martins, Ana F. Castro, José Leal Loureiro, Isabel Silveira, Joana R. Loureiro

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

Dynamic mutations by microsatellite instability are the molecular basis of a growing number of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human genome may drive pathogenicity, either by expansion above a given threshold

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70dc8345a72fdd84fc0d6b31e2b3491f
https://doi.org/10.1002/humu.23704

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A locus conferring tolerance to Theileria infection in African cattle

Publikováno v: Wragg, D, Cook, E A J, Latré de Laté, P, Sitt, T, Hemmink, H, Chepkowny, M, Njeru, M K, Poole, E J, Powell, J, Paxton, E, Callaby, R, Talenti, A, Miyunga, A A, Ndambuki, G, Mwaura, S, Auty, H, Matika, O, Hassan, M, Marshall, K, Connelley, T, Morrison, L, Bronsvoort, M, Morrison, I, Toye, P G & Prendergast, J 2022, ' A locus conferring tolerance to Theileria infection in African cattle ', PLoS Genetics, vol. 18, no. 4, e1010099 . https://doi.org/10.1371/journal.pgen.1010099

East Coast fever, a tick-borne cattle disease caused by theTheileria parvaparasite, is among the biggest natural killers of cattle in East Africa, leading to over 1 million deaths annually. Here we report on the genetic analysis of a cohort of Boran

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dd94e9d88c46b4676539b3cac0b114a
https://doi.org/10.1371/journal.pgen.1010099

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NLRP1 restricts butyrate producing commensals to exacerbate inflammatory bowel disease

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
Nature Communications, 9(1). Nature Publishing Group

Anti-microbial signaling pathways are normally triggered by innate immune receptors when detecting pathogenic microbes to provide protective immunity. Here we show that the inflammasome sensor Nlrp1 aggravates DSS-induced experimental mouse colitis b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::289d7d1c6f61238bb26bb3d2ff10b06a
https://doaj.org/article/289da6d10257442191a1c6fe56d983a8

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Gene expression profiling of fast- and slow-growing non-functioning gonadotroph pituitary adenomas

Autor: Arvind Y. M. Sundaram, Camilla Maria Falch, Kjersti Ringvoll Normann, Marianne Andersen, Ivars Silamikelis, Tove Lekva, Nicoleta Cristina Olarescu, Jens Bollerslev, Kristin Astrid Berland Øystese, Alexander Eieland

Publikováno v: Falch, C M, Sundaram, A Y M, Øystese, K A, Normann, K R, Lekva, T, Silamikelis, I, Eieland, A K, Andersen, M S, Bollerslev, J & Olarescu, N C 2018, ' Gene expression profiling of fast-and slow-growing non-functioning gonadotroph pituitary adenomas ', European Journal of Endocrinology, vol. 178, no. 3, pp. 295-307 . https://doi.org/10.1530/EJE-17-0702

ObjectiveReliable biomarkers associated with aggressiveness of non-functioning gonadotroph adenomas (GAs) are lacking. As the growth of tumor remnants is highly variable, molecular markers for growth potential prediction are necessary. We hypothesize

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::126a05ef8be51edb939b724d5fc8fbb4
https://doi.org/10.1530/eje-17-0702

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