Zobrazeno 1 - 10 of 267 pro vyhledávání: '"MESH: Gene Deletion"'
1
A molecular vision of fungal cell wall organization by functional genomics and solid-state NMR
Autor: Wenxia Fang, Tuo Wang, Pingzhen Wei, Liyanage D. Fernando, Thierry Fontaine, Cheng Jin, Jean-Paul Latgé, Malitha C. Dickwella Widanage, Arnab Chakraborty
Publikováno v: Nature Communications
Nature Communications, Nature Publishing Group, 2021, 12 (1), pp.6346. ⟨10.1038/s41467-021-26749-z⟩
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Nature Communications, 2021, 12 (1), pp.6346. ⟨10.1038/s41467-021-26749-z⟩
Vast efforts have been devoted to the development of antifungal drugs targeting the cell wall, but the supramolecular architecture of this carbohydrate-rich composite remains insufficiently understood. Here we compare the cell wall structure of a fun
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd78ddc04cf1d7644c62715be0d7cc6b
http://europepmc.org/articles/PMC8566572
Zobrazit plný text záznamu
2
Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome
Autor: Clara Moreau, Marie Pier Lord, Aurélie Labbe, Mor Absa Loum, Celia M. T. Greenwood, Mayada Elsabbagh, Laura Almasy, Sébastien Jacquemont, Eva Loth, Catherine Schramm, Laurent Mottron, Borja Rodriguez-Herreros, Guillaume Huguet, Tomas Paus, Petra Tamer, Zdenka Pausova, Zohra Saci, David C. Glahn, Elise Douard, Thomas Bourgeron, Sabrina Nowak, Gunter Schumann, Martineau Jean-Louis, Abderrahim Zeribi
Publikováno v: American Journal of Psychiatry
American Journal of Psychiatry, American Psychiatric Publishing, 2021, 178 (1), pp.87-98. ⟨10.1176/appi.ajp.2020.19080834⟩
The American Journal of Psychiatry
The American Journal of Psychiatry, 2021, 178 (1), pp.87-98. ⟨10.1176/appi.ajp.2020.19080834⟩
Am J Psychiatry
International audience; Objective:Deleterious copy number variants (CNVs) are identified in up to 20% of individuals with autism. However, levels of autism risk conferred by most rare CNVs remain unknown. The authors recently developed statistical mo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db6d4157b56e6bd11cc7159f126268ec
https://hal-pasteur.archives-ouvertes.fr/pasteur-03325371
Zobrazit plný text záznamu
3
Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia
Autor: Carrie E. Bearden, Guillaume Dumas, Aurélie Labbe, Pierre-Olivier Quirion, Stéphane Potvin, Thomas Bourgeron, Clara Moreau, Emmanuel Stip, Kumar Kuldeep, Guillaume Huguet, Amy Lin, Sebastian Urchs, Pierre Bellec, Stéphanie Grot, Alan C. Evans, Catherine Schramm, Sébastien Jacquemont, David Luck, Leila Kushan, Adrianna Mendrek, Pierre Orban, Elise Douard
Publikováno v: Nature Communications
Nature Communications, 2020, 11 (1), pp.5272. ⟨10.1038/s41467-020-18997-2⟩
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Nature Communications, Nature Publishing Group, 2020, 11 (1), pp.5272. ⟨10.1038/s41467-020-18997-2⟩
Nature communications, vol 11, iss 1
16p11.2 and 22q11.2 Copy Number Variants (CNVs) confer high risk for Autism Spectrum Disorder (ASD), schizophrenia (SZ), and Attention-Deficit-Hyperactivity-Disorder (ADHD), but their impact on functional connectivity (FC) remains unclear. Here we re
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86213ff5a2b42da49ffc5affd0ac7083
https://hal-pasteur.archives-ouvertes.fr/pasteur-03325396/file/s41467-020-18997-2.pdf
Zobrazit plný text záznamu
4
Misdiagnosis of imported falciparum malaria from African areas due to an increased prevalence of pfhrp2/pfhrp3 gene deletion: the Djibouti case
Autor: Iriart, Xavier, Menard, Sandie, Chauvin, Pamela, Mohamed, Hasna, Charpentier, Elena, Mohamed, Mohamed, Berry, Antoine, Aboubaker, Mohamed
Publikováno v: Emerging microbes & infections
Emerging microbes & infections, 2020, 9 (1), pp.1984-1987. ⟨10.1080/22221751.2020.1815590⟩
International audience; Following the diagnosis of a falciparum malaria case imported from Djibouti and not detected by a pfHRP2-based rapid diagnostic test (RDT), we investigated the prevalence of the pfhrp2/pfhrp3-deleted parasites in Djibouti usin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1398::46f91bf19ab5582d95b6d8ccc57481c3
https://ut3-toulouseinp.hal.science/hal-03526514/document
Zobrazit plný text záznamu
5
α1AMPK deletion in myelomonocytic cells induces a pro-inflammatory phenotype and enhances angiotensin II-induced vascular dysfunction
Autor: Marc Foretz, Moritz Brandt, Eberhard Schulz, Philip Wenzel, Matthias Oelze, John F. Keaney, Swenja Kröller-Schön, Thomas Münzel, Benoit Viollet, Thomas Jansen, Andreas Daiber, Sebastian Steven, Jeremy Lagrange, Miroslava Kvandova, Sanela Kalinovic, Tanja Schönfelder
Publikováno v: Cardiovascular Research
Cardiovascular Research, Oxford University Press (OUP), 2018, 114 (14), pp.1883-1893. ⟨10.1093/cvr/cvy172⟩
Aims Immune cell function involves energy-dependent processes including growth, proliferation, and cytokine production. Since the AMP-activated protein kinase (AMPK) is a crucial regulator of intracellular energy homeostasis, its expression and activ
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f84a7bdf168ef53e2d8b9511d6ab39a
https://doi.org/10.1093/cvr/cvy172
Zobrazit plný text záznamu
6
Genetic elimination of dopamine vesicular stocks in the nigrostriatal pathway replicates Parkinson’s disease motor symptoms without neuronal degeneration in adult mice
Autor: Chloé Guinaudie, Léa C. Perret, Quentin Rainer, Bruno Giros, Alain Gratton, Luc Moquin, Elsa Isingrini
Publikováno v: Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Scientific Reports
Scientific Reports, Nature Publishing Group, 2017, 7 (1), pp.12432. ⟨10.1038/s41598-017-12810-9⟩
Scientific Reports, 2017, 7 (1), pp.12432. ⟨10.1038/s41598-017-12810-9⟩
Scientific Reports, Nature Publishing Group, 2017, 7, pp.12432. 〈10.3389/fnana.2014.00155〉
International audience; The type 2 vesicular monoamine transporter (VMAT2), by regulating the storage of monoamines transmitters into synaptic vesicles, has a protective role against their cytoplasmic toxicity. Increasing evidence suggests that impai
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceb2a4254bbfa20ad278a4677ceaf80c
http://link.springer.com/article/10.1038/s41598-017-12810-9
Zobrazit plný text záznamu
7
Postnatal Tshz3 deletion drives altered corticostriatal function and autism spectrum disorder-like behavior
Autor: Michèle Carlier, Pierre L. Roubertoux, Christina Frahm, Laurent Fasano, Mehdi Metwaly, Dany Severac, Paolo Gubellini, Alistair N. Garratt, Bernard Jacq, Ahmed Fatmi, Pascal Salin, Dorian Chabbert, Xavier Caubit, Bianca Habermann, Lydia Kerkerian-Le Goff, Emeric Dubois
Publikováno v: Biological Psychiatry
Biological Psychiatry, Elsevier, 2019, 86 (4), pp.274-285. ⟨10.1016/j.biopsych.2019.03.974⟩
Biological Psychiatry, 2019, 86 (4), pp.274-285. ⟨10.1016/j.biopsych.2019.03.974⟩
International audience; BACKGROUND: Heterozygous deletion of the TSHZ3 gene, encoding for the teashirt zinc-finger homeobox family member 3 (TSHZ3) transcription factor that is highly expressed in cortical projection neurons (CPNs), has been linked t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffbf5abb350369b7cee3b04f42362f43
http://edoc.mdc-berlin.de/18222/1/18222oa.pdf
Zobrazit plný text záznamu
8
Two KTR Mannosyltransferases Are Responsible for the Biosynthesis of Cell Wall Mannans and Control Polarized Growth in Aspergillus fumigatus
Autor: Jizhou Li, Laura Alcazar-Fuoli, Emilia Mellado, Rémi Beau, Jean-Paul Latgé, Grégory Jouvion, Christine Henry, Thierry Fontaine, François Danion
Publikováno v: mBio, Vol 10, Iss 1 (2019)
mBio
mBio, American Society for Microbiology, 2019, 10 (1), pp.e02647-18. ⟨10.1128/mBio.02647-18⟩
mBio, 2019, 10 (1), pp.e02647-18. ⟨10.1128/mBio.02647-18⟩
mBio, Vol 10, Iss 1, p e02647-18 (2019)
Repisalud
Instituto de Salud Carlos III (ISCIII)
The fungal cell wall is a complex and dynamic entity essential for the development of fungi. It allows fungal pathogens to survive environmental challenge posed by nutrient stress and host defenses, and it also is central to polarized growth. The cel
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::568619102a05c1f9cc92f6c3522aec94
https://journals.asm.org/doi/10.1128/mBio.02647-18
Zobrazit plný text záznamu
9
Increased intracellular cyclic di-AMP levels sensitize Streptococcus gallolyticus subsp. gallolyticus to osmotic stress and reduce biofilm formation and adherence on intestinal cells
Autor: Tim Tolker-Nielsen, Wooi Keong Teh, Shaynoor Dramsi, Michael Givskov, Liang Yang
Publikováno v: Teh, W K, Dramsi, S, Tolker-Nielsen, T, Yang, L & Givskov, M 2019, ' Increased Intracellular Cyclic di-AMP Levels Sensitize Streptococcus gallolyticus subsp. gallolyticus to Osmotic Stress and Reduce Biofilm Formation and Adherence on Intestinal Cells ', Journal of Bacteriology, vol. 201, no. 6, pp. 1-16 . https://doi.org/10.1128/JB.00597-18
Journal of Bacteriology
Journal of Bacteriology, American Society for Microbiology, 2019, 201 (6), pp.e00597-18. ⟨10.1128/JB.00597-18⟩
Journal of Bacteriology, 2019, 201 (6), pp.e00597-18. ⟨10.1128/JB.00597-18⟩
Streptococcus gallolyticus is an opportunistic pathogen responsible for septicemia and endocarditis in the elderly and is also strongly associated with colorectal cancer. S. gallolyticus can form biofilms, express specific pili to colonize the host t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3314f75ef2bada2a9a89f2a523e016a9
http://hdl.handle.net/10220/48383
Zobrazit plný text záznamu
10
Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens
Autor: Stanislas Faguer, Aurore Siegfried, Valérie Mitchell, Roger Mieusset, Guy Lalau, Laetitia Monteil, Jean-Marc Rigot, Olivier Patat, V. Gaston, François Marcelli, Nicolas Chassaing, Monique Courtade-Saïdi, A. Pagin, Eric Bieth, Louis Bujan
Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (2), pp.437-442. ⟨10.1016/j.ajhg.2016.06.012⟩
American Journal of Human Genetics, 2016, 99 (2), pp.437-442. ⟨10.1016/j.ajhg.2016.06.012⟩
International audience; In 80% of infertile men with obstructive azoospermia caused by a congenital bilateral absence of the vas deferens (CBAVD), mutations are identified in the cystic fibrosis transmembrane conductance regulator gene (CFTR). For th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5a95b8993b4b0cc0a1936deeaaabcea
https://doi.org/10.1016/j.ajhg.2016.06.012
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje