Zobrazeno 1 - 10
of 151
pro vyhledávání: '"Carrier Proteins/genetics"'
Autor:
Claire Redin, Despina Christina Pavlidou, Zahurul Bhuiyan, Alessandra Pia Porretta, Pierre Monney, Nicola Bedoni, Fabienne Maurer, Nicole Sekarski, Isis Atallah, Davoine Émeline, Xavier Jeanrenaud, Etienne Pruvot, Jacques Fellay, Andrea Superti-Furga
Publikováno v:
European journal of medical genetics, vol. 65, no. 12, pp. 104627
MYBPC3 is the most frequently mutated gene in hypertrophic cardiomyopathy (HCM). Several loss-of-function founder variants have been reported in MYBPC3 from various geographic regions, altogether suggestive of a modest or absent effect of these varia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faddc27f63e5edb9bbde46ab4b0fbfeb
https://pubmed.ncbi.nlm.nih.gov/36162733
https://pubmed.ncbi.nlm.nih.gov/36162733
Autor:
Marina Badenes, Emma Burbridge, Ioanna Oikonomidi, Abdulbasit Amin, Érika de Carvalho, Lindsay Kosack, Camila Mariano, Pedro Domingos, Pedro Faísca, Colin Adrain
Publikováno v:
Badenes, M, Burbridge, E, Oikonomidi, I, Amin, A, de Carvalho, É, Kosack, L, Mariano, C, Domingos, P, Faísca, P & Adrain, C 2023, ' The ADAM17 sheddase complex regulator iTAP/Frmd8 modulates inflammation and tumor growth ', Life Science Alliance, vol. 6, no. 4, e202201644 . https://doi.org/10.26508/lsa.202201644
The metalloprotease ADAM17 is a sheddase of key molecules, including TNF and epidermal growth factor receptor ligands. ADAM17 exists within an assemblage, the “sheddase complex,” containing a rhomboid pseudoprotease (iRhom1 or iRhom2). iRhoms con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9084ed5c7b368748c40740728c192f08
https://doi.org/10.26508/lsa.202201644
https://doi.org/10.26508/lsa.202201644
Autor:
Abdul Ghani Alattar, Shamit Soneji, Ramprasad Ramakrishnan, Alexander Mattebo, Sofie Singbrant, Jenny Hansson, Johan Flygare, Stefan Lang, Emile van den Akker, Marcus Järås, Maria Jassinskaja, Kristýna Pimková, Isabel Prieto González-Albo, Taha Sen
Publikováno v:
Scientific reports, 11(1). Nature Publishing Group
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Scientific Reports
The YPEL family genes are highly conserved across a diverse range of eukaryotic organisms and thus potentially involved in essential cellular processes. Ypel4, one of five YPEL family gene orthologs in mouse and human, is highly and specifically expr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e58782fc469dc262a9ac06c0c4cab84
https://doi.org/10.1038/s41598-021-95291-1
https://doi.org/10.1038/s41598-021-95291-1
Autor:
Diederik W. D. Kuster, Maike Schuldt, Saskia Schlossarek, Jaco C. Knol, Thang V. Pham, Michiel Dalinghaus, Michelle Michels, Tim Schelfhorst, Connie R. Jimenez, Marie-Jo Moutin, Jolanda van der Velden, Sander R. Piersma, Jiayi Pei, Michal Mokry, Larissa M. Dorsch, Lucie Carrier, Magdalena Harakalova, Cris dos Remedios, Folkert W. Asselbergs
Publikováno v:
Circulation. Heart failure
Circulation. Heart failure, 2021, 14 (1), ⟨10.1161/CIRCHEARTFAILURE.120.007022⟩
Circulation. Heart failure, 14(1):e007022. Lippincott Williams & Wilkins
Circulation. Heart Failure
Circ Heart Fail
Circulation. Heart failure, 14(1). Lippincott Williams and Wilkins
Schuldt, M, Pei, J, Harakalova, M, Dorsch, L M, Schlossarek, S, Mokry, M, Knol, J C, Pham, T V, Schelfhorst, T, Piersma, S R, Dos Remedios, C, Dalinghaus, M, Michels, M, Asselbergs, F W, Moutin, M-J, Carrier, L, Jimenez, C R, van der Velden, J & Kuster, D W D 2021, ' Proteomic and Functional Studies Reveal Detyrosinated Tubulin as Treatment Target in Sarcomere Mutation-Induced Hypertrophic Cardiomyopathy ', Circulation. Heart failure, vol. 14, no. 1, e007022 . https://doi.org/10.1161/CIRCHEARTFAILURE.120.007022
Circulation. Heart failure, Lippincott Williams & Wilkins, 2021, 14 (1), ⟨10.1161/CIRCHEARTFAILURE.120.007022⟩
Circulation. Heart failure, 14(1):e007022. Lippincott Williams and Wilkins
Circulation. Heart failure, 2021, 14 (1), ⟨10.1161/CIRCHEARTFAILURE.120.007022⟩
Circulation. Heart failure, 14(1):e007022. Lippincott Williams & Wilkins
Circulation. Heart Failure
Circ Heart Fail
Circulation. Heart failure, 14(1). Lippincott Williams and Wilkins
Schuldt, M, Pei, J, Harakalova, M, Dorsch, L M, Schlossarek, S, Mokry, M, Knol, J C, Pham, T V, Schelfhorst, T, Piersma, S R, Dos Remedios, C, Dalinghaus, M, Michels, M, Asselbergs, F W, Moutin, M-J, Carrier, L, Jimenez, C R, van der Velden, J & Kuster, D W D 2021, ' Proteomic and Functional Studies Reveal Detyrosinated Tubulin as Treatment Target in Sarcomere Mutation-Induced Hypertrophic Cardiomyopathy ', Circulation. Heart failure, vol. 14, no. 1, e007022 . https://doi.org/10.1161/CIRCHEARTFAILURE.120.007022
Circulation. Heart failure, Lippincott Williams & Wilkins, 2021, 14 (1), ⟨10.1161/CIRCHEARTFAILURE.120.007022⟩
Circulation. Heart failure, 14(1):e007022. Lippincott Williams and Wilkins
Supplemental Digital Content is available in the text.
Background: Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease. While ≈50% of patients with HCM carry a sarcomere gene mutation (sarcomere mutation-positive, HCMSMP
Background: Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease. While ≈50% of patients with HCM carry a sarcomere gene mutation (sarcomere mutation-positive, HCMSMP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::536db8cc06d783840bdc2eb32fe1bbfe
https://doi.org/10.1161/circheartfailure.120.007022
https://doi.org/10.1161/circheartfailure.120.007022
Autor:
Klaus Brusgaard, Lilian Bomme Ousager, Marie Westergaard-Nielsen, Jens Højberg Wanscher, Tine Amstrup
Publikováno v:
Westergaard-Nielsen, M, Amstrup, T, Wanscher, J H, Brusgaard, K & Ousager, L B 2018, ' Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation : Long term follow-up on surgical treatment ', International Journal of Pediatric Otorhinolaryngology, vol. 108, pp. 208-212 . https://doi.org/10.1016/j.ijporl.2018.03.008
Objective Evaluation of clinical findings and audiological outcome after surgery in a Danish family with autosomal dominant facio-audio-symphalangism syndrome with stapes fixation, syndactyly and symphalangism. Methods Retrospective report on eight a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::480185f8e53dcafdcb54c3c3f64a75e9
https://doi.org/10.1016/j.ijporl.2018.03.008
https://doi.org/10.1016/j.ijporl.2018.03.008
Publikováno v:
Human Molecular Genetics. 27(3):529-545
DNAAF1 (LRRC50) is a cytoplasmic protein required for dynein heavy chain assembly and cilia motility, and DNAAF1 mutations cause primary ciliary dyskinesia (PCD; MIM 613193). We describe four families with DNAAF1 mutations and complex congenital hear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___00893::29715cb1fa9b3eb34aae8376eed1a930
https://doi.org/10.1093/hmg/ddx422
https://doi.org/10.1093/hmg/ddx422
Autor:
Feichtinger R. G., Olahova M., Kishita Y., Garone C., Kremer L. S., Yagi M., Uchiumi T., Jourdain A. A., Thompson K., D'Souza A. R., Kopajtich R., Alston C. L., Koch J., Sperl W., Mastantuono E., Strom T. M., Wortmann S. B., Meitinger T., Pierre G., Chinnery P. F., Chrzanowska-Lightowlers Z. M., Lightowlers R. N., DiMauro S., Calvo S. E., Mootha V. K., Moggio M., Sciacco M., Comi G. P., Ronchi D., Murayama K., Ohtake A., Rebelo-Guiomar P., Kohda M., Kang D., Mayr J. A., Taylor R. W., Okazaki Y., Minczuk M., Prokisch H.
Publikováno v:
American Journal of Human Genetics
American journal of human genetics, vol. 101, no. 4, pp. 525-538
American journal of human genetics, vol. 101, no. 4, pp. 525-538
Complement component 1 Q subcomponent-binding protein (C1QBP; also known as p32) is a multi-compartmental protein whose precise function remains unknown. It is an evolutionary conserved multifunctional protein localized primarily in the mitochondrial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8ac8c0023b11fdbacad4cbc67120937c
http://europepmc.org/articles/PMC5630164
http://europepmc.org/articles/PMC5630164
Autor:
Henning Tiemeier, Dina Vojinovic, Najaf Amin, Cornelia M. van Duijn, Hilde Peeters, Lennart C. Karssen, Ilse Noens, Shahzad Ahmad, Irene Pappa, Nathalie Brison
Publikováno v:
Vojinovic, D, Brison, N, Ahmad, S, Noens, I, Pappa, I, Karssen, L C, Tiemeier, H, van Duijn, C M, Peeters, H & Amin, N 2017, ' Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population ', European Journal of Human Genetics, vol. 25, no. 8, pp. 982-987 . https://doi.org/10.1038/ejhg.2017.82
European Journal of Human Genetics, 25(8), 982-987. Nature Publishing Group
European Journal of Human Genetics, 25(8), 982-987. Nature Publishing Group
Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder with a complex genetic architecture. To identify genetic variants underlying ASD, we performed single-variant and gene-based genome-wide association studies using a dens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b82342e4963448f6bd1e7d70576e5c6f
https://research.vu.nl/en/publications/5633a9f9-e112-4a91-8e89-3af72f0a7e9a
https://research.vu.nl/en/publications/5633a9f9-e112-4a91-8e89-3af72f0a7e9a
Autor:
Hans Salwender, Marc Andrea Baertsch, Natalia Becker, Jan Dürig, Markus Munder, Katharina Kriegsmann, Mohamed H.S. Awwad, Katja Weisel, Jens Hillengass, Marc S. Raab, Anja Seckinger, Hartmut Goldschmidt, Roland Fenk, Maximilian Merz, Michael Hundemer, Carsten Müller-Tidow, Dirk Hose, Uta Bertsch, Axel Benner, Mathias Hänel, Anna Jauch
Publikováno v:
Blood Cancer Journal
Blood Cancer Journal, Vol 9, Iss 2, Pp 1-10 (2019)
Blood Cancer Journal, Vol 9, Iss 2, Pp 1-10 (2019)
Immunomodulatory drugs (IMIDs) are very effective in the treatment of multiple myeloma (MM). The description of their cereblon-mediated mechanism of action was a hallmark in MM research. Although the importance of IMID-induced degradation of cereblon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::413ff4979dc7f236c8e400dfa7af308d
https://www.ncbi.nlm.nih.gov/pubmed/30696815
https://www.ncbi.nlm.nih.gov/pubmed/30696815
Autor:
Darius Vasco Köster, Cédric M. Blouin, Paolo Pierobon, Vassili Soumelis, Satish Kailasam Mani, Christine Viaris de Lesegno, Ludger Johannes, Alexandre Grassart, Valérie Chambon, Wei-Wei Shen, Stéphanie Torrino, Catherine Coirault, Cesar Augusto Valades-Cruz, Stéphane Vassilopoulos, Pierre Bost, Christophe Lamaze
Publikováno v:
Journal of Cell Biology
Journal of Cell Biology, Rockefeller University Press, 2018, 217 (12), pp.4092-4105. ⟨10.1083/jcb.201801122⟩
The Journal of Cell Biology
Journal of Cell Biology, 2018, 217 (12), pp.4092-4105. ⟨10.1083/jcb.201801122⟩
Journal of Cell Biology, Rockefeller University Press, 2018, 217 (12), pp.4092-4105. ⟨10.1083/jcb.201801122⟩
The Journal of Cell Biology
Journal of Cell Biology, 2018, 217 (12), pp.4092-4105. ⟨10.1083/jcb.201801122⟩
Caveolae are dynamic mechanosensors. Torrino et al. show that EHD2 plays a crucial role in the adaptation to mechanical perturbations by maintaining the caveolae reservoir at the plasma membrane after changes in membrane tension and connecting caveol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba7042e1f7a0a83c4b843ac2dcf8af90
https://www.hal.inserm.fr/inserm-02426440
https://www.hal.inserm.fr/inserm-02426440