Littérature scientifique sur le sujet « ACTN1 »
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Articles de revues sur le sujet "ACTN1"
Boutroux, Helene, Bianca David, Paul Guéguen, Pierre Frange, Anne Vincenot, Guy Leverger et Rémi Favier. « ACTN1-related Macrothrombocytopenia ». Journal of Pediatric Hematology/Oncology 39, no 8 (novembre 2017) : e515-e518. http://dx.doi.org/10.1097/mph.0000000000000885.
Texte intégralBottega, Roberta, Caterina Marconi, Michela Faleschini, Gabriele Baj, Claudia Cagioni, Alessandro Pecci, Tommaso Pippucci et al. « ACTN1-related thrombocytopenia : identification of novel families for phenotypic characterization ». Blood 125, no 5 (29 janvier 2015) : 869–72. http://dx.doi.org/10.1182/blood-2014-08-594531.
Texte intégralDubayle, David, Arnaud Vanden-Bossche, Tom Peixoto et Jean-Luc Morel. « Hypergravity Increases Blood–Brain Barrier Permeability to Fluorescent Dextran and Antisense Oligonucleotide in Mice ». Cells 12, no 5 (24 février 2023) : 734. http://dx.doi.org/10.3390/cells12050734.
Texte intégralKunishima, Shinji, Katsumasa Kitamura, Motoko Yasutomi et Ryoji Kobayashi. « Diagnostic biomarker for ACTN1 macrothrombocytopenia ». Blood 126, no 22 (26 novembre 2015) : 2525–26. http://dx.doi.org/10.1182/blood-2015-08-666180.
Texte intégralWestbury, Sarah K., Deborah K. Shoemark et Andrew D. Mumford. « ACTN1 variants associated with thrombocytopenia ». Platelets 28, no 6 (18 août 2017) : 625–27. http://dx.doi.org/10.1080/09537104.2017.1356455.
Texte intégralKunishima, Shinji, Yusuke Okuno, Kenichi Yoshida, Yuichi Shiraishi, Masashi Sanada, Hideki Muramatsu, Kenichi Chiba et al. « ACTN1 Mutations Cause Congenital Macrothrombocytopenia ». American Journal of Human Genetics 92, no 3 (mars 2013) : 431–38. http://dx.doi.org/10.1016/j.ajhg.2013.01.015.
Texte intégralYang, Xinrui, Yifan Pang, Jilei Zhang, Jinlong Shi, Xinpei Zhang, Gaoqi Zhang, Siyuan Yang et al. « High Expression Levels of ACTN1 and ACTN3 Indicate Unfavorable Prognosis in Acute Myeloid Leukemia ». Journal of Cancer 10, no 18 (2019) : 4286–92. http://dx.doi.org/10.7150/jca.31766.
Texte intégralSuresh, Rahul, Sophie Fiola, Jamie Beaulieu et Roberto Diaz. « PATH-14. ALPHA CARDIAC ACTIN EXPRESSION IS OBSERVED IN AGGRESSIVE GLIOMA SUBTYPES AND GLIOBLASTOMA STEM CELLS ». Neuro-Oncology 23, Supplement_6 (2 novembre 2021) : vi117. http://dx.doi.org/10.1093/neuonc/noab196.466.
Texte intégralVincenot, Anne, Paul Saultier, Shinji Kunishima, Marjorie Poggi, Marie‐Françoise Hurtaud‐Roux, Alain Roussel, ACTN1 study coinvestigators, Nicole Schlegel et Marie‐Christine Alessi. « Novel ACTN1 variants in cases of thrombocytopenia ». Human Mutation 40, no 12 (6 novembre 2019) : 2258–69. http://dx.doi.org/10.1002/humu.23840.
Texte intégralAshaie, Maeirah Afzal, Rowshan Ara Islam, Nur Izyani Kamaruzman, Nabilah Ibnat, Kyi Kyi Tha et Ezharul Hoque Chowdhury. « Targeting Cell Adhesion Molecules via Carbonate Apatite-Mediated Delivery of Specific siRNAs to Breast Cancer Cells In Vitro and In Vivo ». Pharmaceutics 11, no 7 (2 juillet 2019) : 309. http://dx.doi.org/10.3390/pharmaceutics11070309.
Texte intégralThèses sur le sujet "ACTN1"
Zablocki, Destinee Elizabeth. « Differential Expression of Calsarcin Genes in Orthognathic Surgery Patients with ACTN3 R577X Gene Deviations ». Master's thesis, Temple University Libraries, 2016. http://cdm16002.contentdm.oclc.org/cdm/ref/collection/p245801coll10/id/405298.
Texte intégralM.S.
Objective: Malocclusion is a complex musculoskeletal trait, with muscle playing an integral role in vertical facial development. A single nucleotide polymorphism (SNP) produces the R577XX nonsense mutation in the alpha-actinin-3 (ACTN3) gene, creating a stop codon and loss of its protein. With loss of ACTN3, alpha-actinin-2 (ACTN2) is upregulated. Calsarcins, known inhibitors of calcineurin activation, preferentially bind ACTN2 leading to a surge in free calcineurin. The increase in calcineurin activity produces the phenotypic shift of fast muscle fibers toward the slow myogenic program seen in the ACTN3 null genotype (Seto et al., 2013). Here, we have tested whether calsarcin gene expression is affected by ACTN3 genotypes in human masseter muscle. Methods: Subjects undergoing orthodontic treatment and orthognathic surgery were recruited from the University of Lille, Department of Oral and Maxillofacial Surgery in Northern France. During the bilateral sagittal split osteotomy, masseter muscle samples were collected from the discarded section of deep anterior superficial masseter muscle, snap frozen, and shipped to Dr. Sciote’s lab at Temple University. RNA from masseter muscle samples was isolated from 41 subjects using TRIzolTM reagent. MYOZ gene expression was quantified by RT-PCR using an adult skeletal muscle reference standard (commercially prepared skeletal muscle RNA; Ambion, Inc), and individual primer-probe sets for MYOZ1, MYOZ2, MYOZ3, and HPRT1 (utilized for normalization of data). ANOVA and unpaired t-tests were used to determine the significance of expression differences between MYOZ genes and by ACTN3 R577X genotypes, as well as by malocclusion classes. Pearson analyses were used to determine correlations between MYOZ expression and fiber type mean percent occupancies. Results: The main aim of this project was to determine whether expression of the three calsarcin genes, MYOZ1, 2, and 3, differs between subjects with RR, RX and XX genotypes for the ACTN3 gene, as well as between sagittal and vertical classes of malocclusion, asymmetries and TMD. Differences were found for MYOZ3 expression where relative quantities in males, but not females, decreased progressively from the ACTN3 RR, to RX, and XX genotypes. Among subjects with the RX genotype, expression differed significantly between males and females by an unpaired t-test. A statistically significant difference was detected between MYOZ2 and Class II, Class III malocclusions (p=0.05). Sagittal differences were compared further by ANOVA analyses with a statistically significant difference detected for MYOZ3 with a probability of 0.02. Correlation analyses comparing fiber type mean % occupancy with calsarcin gene expression revealed a significant positive relationship between MYOZ2 and type I (slow-twitch) fibers. Correspondingly, a significant correlation of MYOZ2 expression with type IIA and IIX (fast-twitch) fibers was negative. Conclusions: The greatest relative quantity of RNA for the three calsarcin genes was found in MYOZ3, suggesting more calsarcin-3 may be needed in masticatory muscle structure and function than other calsarcin isoforms. Alternatively, high expression of MYOZ3 in the masseter samples may indicate that there are relatively greater amounts of that isoform in cranial muscle than in the limb skeletal muscle standard used in these studies. Also, relative quantities of MYOZ3 expression in males decreased progressively from the ACTN3 RR, to RX, and XX genotypes. While this data may suggest that the ACTN3 R577X polymorphism may affect MYOZ3 expression in males of the malocclusion patient population, an increased sample of male subjects would be needed to determine if this trend has true significance. Expression of MYOZ2 (calsarcin-1) was strongly correlated with slow fiber-type occupancy in masseter muscle of our patient population. The muscle-specific expression of each calsarcin may lend to the understanding of this result. MYOZ2 is the only isoform found in both cardiac muscle and slow-twitch skeletal muscle, while MYOZ1 and MYOZ3 are both found in skeletal muscle with a predilection towards fast-twitch skeletal muscle (Frey et al., 2004).
Temple University--Theses
Zebrick, Brian Matthew. « ACTN3 R577X GENOTYPES ASSOCIATE WITH CLASS II AND DEEP BITE MALOCCLUSIONS ». Master's thesis, Temple University Libraries, 2015. http://cdm16002.contentdm.oclc.org/cdm/ref/collection/p245801coll10/id/329277.
Texte intégralM.S.
Alpha-actinins are myofibril anchor proteins, which influence contractile properties of skeletal muscle. ACTN2 is expressed in slow type I and fast type II fibers whereas ACTN3 is expressed only in fast fibers. ACTN3 homozygosity for the 577X stop codon (i.e. changing 577RR to 577XX - the R577X polymorphism) results in the absence of alpha-actinin-3 in about 18% of Europeans, diminished fast contractile ability, enhanced endurance performance, and reduced bone mass or bone mineral density. We have examined ACTN3 expression and genetic variation in masseter muscle of orthognathic surgery patients to determine genotype associations with malocclusion. To determine the associations between genotypes and malocclusions, clinical information, masseter muscle biopsies, and saliva samples were obtained from 60 subjects. Genotyping for ACTN3 SNPs, RT-PCR quantitation of muscle gene message, and muscle morphometric fiber type properties were compared to determine statistical differences between genotype and phenotype. We found muscle mRNA expression level was significantly different for ACTN3 SNP genotypes (p<0.01). The frequency of ACTN3 genotypes was significantly different for sagittal and vertical classifications of malocclusion with the clearest association being elevated 577XX genotype in skeletal Class II malocclusion (p = 0.003). This genotype also resulted in significantly smaller diameter of fast type II fibers in masseter muscle (p=0.002). In conclusion, ACTN3 577XX is overrepresented in skeletal Class II malocclusion, suggesting a biologic influence during bone growth. ACTN3 577XX is underrepresented in deep bite malocclusion, suggesting muscle differences contribute to variations in vertical facial dimensions.
Temple University--Theses
Nicholl, Sarah. « Characterisation of AAE7/ACN1 and aconitase isoforms from Arabidopsis thaliana ». Thesis, Bangor University, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.536471.
Texte intégralHong, Lingzi. « Act1-Mediated RNA Metabolism in IL-17-Driven Inflammatory Diseases ». Case Western Reserve University School of Graduate Studies / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=case162673878106271.
Texte intégralSniečkus, Audrius. « Raumenų pažaidos priklausomumas nuo krūvio išdėstymo strategijos, sportininkų specializacijos ir genotipo ». Doctoral thesis, Lithuanian Academic Libraries Network (LABT), 2013. http://vddb.laba.lt/obj/LT-eLABa-0001:E.02~2013~D_20130610_125924-56862.
Texte intégralUnaccustomed muscle exercise, especially when it involves high-strain eccentric contractions, causes muscle damage (Yanagisawa et al., 2011; Neme et al., 2013). Muscle damage manifests in altered Z-disk morphology (Feasson et al., 2002), prolonged impairment of muscle force (Byrne et al., 2004; Skurvydas et al., 2010), protein leakage from injured muscle fibres, delayed-onset muscle soreness, and increased passive muscle stiffness and swelling (Malisoux et al., 2006; Chen et al., 2013). Muscle damage is frequently induced by sports training, where physical load parameters are being varied on the temporal scale to avoid monotony and maximize the adaptations (Bompa 1999; Issurin, 2010). However, there are limited data on the development of muscle damage and its impact on muscle function when variant exercise training schemes are applied. More needs to be learned about the impact of different strategies of load increase on exercise-induced muscle damage in order to identify progression regimes that can optimize neuromuscular adaptation processes. Therefore, we have followed the dynamics of muscle function during the stretch–shortening exercise with differently increasing load. We increased training stimulus by varying the volume, intensity, and range of motion. According to Nosaka (2008), these components of the eccentric contraction training are the most important for adaptation of the skeletal muscle. We hypothesized that the progressive increase in training load would induce... [to full text]
Binti, Ahmad Yusof Hazwani. « The Effects of Angiotensin I-Converting Enzyme (ACE) I/D and Alpha-Actinin-3 (ACTN3) R/X Gene Polymorphisms on Human Physical Performance and Health within Malaysian Population ». Thesis, The University of Sydney, 2015. http://hdl.handle.net/2123/14722.
Texte intégralSwaidani, Shadi. « THE ROLE OF ACT1 IN IL-25 DEPENDENT TH2 RESPONSES AND ALLERGIC AIRWAY INFLAMMATION AND AIRWAY HYPERRESPONSIVENESS ». Case Western Reserve University School of Graduate Studies / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1270240862.
Texte intégralVilella-Arias, Santiago Andrés. « Estudo de candidatos a biomarcadores moleculares de prognóstico em carcinoma renal de células claras ». Universidade de São Paulo, 2013. http://www.teses.usp.br/teses/disponiveis/46/46131/tde-20032014-075848/.
Texte intégralThe renal cell carcinoma (RCC) is the most aggressive tumor that affects the kidney in adult people. The RCC is a heterogeneous disease, with many different molecular alterations and varied histological and clinical patterns with different outcome. Currently, only classic anatomopathological variables are used to determine patients\' prognosis. Using a DNA microarray platform, our group identified in a previous work a set of genes differentially expressed in renal tumors. In this study, nine candidates were selected for evaluation as prognostic biomarkers in RCC. Alteration of the gene expression in RCC tumor samples was confirmed for ARNTL, ACTN4 and EPAS1 (p < 0.05) by real time PCR. Additionally, gene expression changes of ARNTL, EPAS1 and CASP7 were also observed in immortalized cell lines derived from renal tumors, recapitulating the expression changes detected in the patients\' tumors. Next, we used tissue microarrays to investigate the protein expression of the selected candidates by immunohistochemistry. Expression of the proteins ACTN4, ARNTL, CASP7 and EPAS1 was detected as significantly downregulated (p < 0.05) in patients´ tumors relative to non-tumor renal tissue. Furthermore, immunostaining patterns of the selected candidates were able to stratify patients with RCC in different risk groups according to cancer-specific survival, which also showed significant associations with anatomopathological parameters used in the clinics. ACTN4, ARNTL and EPAS1 immunostaining resulted as independent prognostic parameters of patient survival. CASP7 immunostaining was able to identify subgroups of patients with worse prognosis in a set of low risk patients as determined by their clinical stage, and also identified patients with lower risk of death from cancer amongst patients that relapsed within 5 years after surgery. Overall, these results point to a new set of molecular biomarkers with potential relevance to help in the prognosis of patients with renal cell carcinoma.
Velichko, Sharlene, Xu Zhou, Lingxiang Zhu, Johnathon David Anderson, Reen Wu et Yin Chen. « A Novel Nuclear Function for the Interleukin-17 Signaling Adaptor Protein Act1 ». PUBLIC LIBRARY SCIENCE, 2016. http://hdl.handle.net/10150/621947.
Texte intégralWagle, John P., Kevin M. Carroll, Aaron J. Cunanan, Alexander Wetmore, Christopher B. Taber, Brad H. DeWeese, Kimitake Sato, Charles A. Stuart et Michael H. Stone. « Preliminary Investigation Into the Effect of ACTN3 and ACE Polymorphisms on Muscle and Performance Characteristics ». Digital Commons @ East Tennessee State University, 2018. https://dc.etsu.edu/etsu-works/4663.
Texte intégralLivres sur le sujet "ACTN1"
NA. Math in Actn Intro& Math Actn Alg Graph& MML. Addison Wesley Publishing Company, 2004.
Trouver le texte intégralNA. Expl Offc XP V1 Enhancd& Tec Actn& Actn CD Pk. Addison Wesley Longman, 2005.
Trouver le texte intégralNA. Math in Actn : Intro& Math Actn : Alg& 2 Mmls Pk. Addison Wesley Publishing Company, 2005.
Trouver le texte intégralJones, Carol Barton. Eng in Actn : Assignment File. Heinemann Educational Publishers, 1991.
Trouver le texte intégralCoulter. Stratg Actn and airlne and Resp. Pearson Education, Limited, 2003.
Trouver le texte intégralChapitres de livres sur le sujet "ACTN1"
Allwood, Jens. « Action theory ». Dans Handbook of Pragmatics, 35–37. Amsterdam : John Benjamins Publishing Company, 2022. http://dx.doi.org/10.1075/hop.m2.act1.
Texte intégralBiggs, Catherine M., et Stuart E. Turvey. « Chronic Mucocutaneous Candidiasis, ACT1 Deficiency ». Dans Encyclopedia of Medical Immunology, 161–64. New York, NY : Springer New York, 2020. http://dx.doi.org/10.1007/978-1-4614-8678-7_63.
Texte intégralBiggs, Catherine M., et Stuart E. Turvey. « Chronic Mucocutaneous Candidiasis, ACT1 Deficiency ». Dans Encyclopedia of Medical Immunology, 1–4. New York, NY : Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4614-9209-2_63-1.
Texte intégralMacarthur, Daniel G., et Kathryn N. North. « The ACTN3 Gene and Human Performance ». Dans Genetic and Molecular Aspects of Sport Performance, 204–14. Oxford, UK : Wiley-Blackwell, 2010. http://dx.doi.org/10.1002/9781444327335.ch18.
Texte intégralJørgensen, Trine N., Natalia V. Giltiay, Angela Johnson et Xiaoxia Li. « The Role of Act1 in the Control of Autoimmunity ». Dans The Epigenetics of Autoimmune Diseases, 55–74. Chichester, UK : John Wiley & Sons, Ltd, 2009. http://dx.doi.org/10.1002/9780470743553.ch4.
Texte intégralWu, Ling, Jarod Zepp et Xiaoxia Li. « Function of Act1 in IL-17 Family Signaling and Autoimmunity ». Dans Advances in Experimental Medicine and Biology, 223–35. New York, NY : Springer New York, 2011. http://dx.doi.org/10.1007/978-1-4614-0106-3_13.
Texte intégralGerats, Tom, Jan Zethof et Michiel Vandenbussche. « Identification and Applications of the Petunia Class II Act1/dTph1 Transposable Element System ». Dans Methods in Molecular Biology, 223–37. Totowa, NJ : Humana Press, 2013. http://dx.doi.org/10.1007/978-1-62703-568-2_16.
Texte intégralZhang, Qianying, Jun Ma, Jingyuan Xie, Zhaohui Wang, Bin Zhu, Xu Hao, Li Yang, Hong Ren et Nan Chen. « Screening of ACTN4 and TRPC6 Mutations in a Chinese Cohort of Patients with Adult-Onset Familial Focal Segmental Glomerulosclerosis ». Dans Contributions to Nephrology, 91–100. Basel : S. KARGER AG, 2013. http://dx.doi.org/10.1159/000348471.
Texte intégral« ACTN1 ». Dans Encyclopedia of Signaling Molecules, 140. Cham : Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-67199-4_100106.
Texte intégral« ACTN2 ». Dans Encyclopedia of Signaling Molecules, 140. Cham : Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-67199-4_100107.
Texte intégralActes de conférences sur le sujet "ACTN1"
Zheng, Yanlei, Yantao Zhou, Guangquan Wang et Yacheng Liu. « NBI Modeling Realization for SDOTN Based on ACTN ». Dans 2019 IEEE 11th International Conference on Communication Software and Networks (ICCSN). IEEE, 2019. http://dx.doi.org/10.1109/iccsn.2019.8905257.
Texte intégralLee, Young, Ricard Vilalta, Ramon Casellas, Ricardo Martinez et Raul Munoz. « Scalable telemetry and network autonomics in ACTN SDN controller hierarchy ». Dans 2017 19th International Conference on Transparent Optical Networks (ICTON). IEEE, 2017. http://dx.doi.org/10.1109/icton.2017.8025036.
Texte intégralJin, Lei, Hessam Tabatabaeehatambakhsh, Chen Chen Jiang, Xu Guang Yan, Jia Yu Wang, Yuan Yuan Zhang, Hamed Yari et al. « Abstract 4462 : ACTN4 stabilises RIPK1 to function as an oncogenic driver in melanoma ». Dans Proceedings : AACR Annual Meeting 2017 ; April 1-5, 2017 ; Washington, DC. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.am2017-4462.
Texte intégralLee, Young, Kaippallimalil John et Ricard Vilalta. « Extended ACTN Architecture to Enable End-To-End 5G Transport Service Assurance ». Dans 2019 21st International Conference on Transparent Optical Networks (ICTON). IEEE, 2019. http://dx.doi.org/10.1109/icton.2019.8840270.
Texte intégralIwakuma, Tomoo. « Abstract LB-303 : Metastasis suppression by MDM2 binding protein through inhibition of ACTN4 function ». Dans Proceedings : AACR 103rd Annual Meeting 2012‐‐ Mar 31‐Apr 4, 2012 ; Chicago, IL. American Association for Cancer Research, 2012. http://dx.doi.org/10.1158/1538-7445.am2012-lb-303.
Texte intégralQu, Xiaochao, Koop Norbert, Zheng Li, Jing Wang, Zhenxi Zhang et Gereon Hüttmann. « Multiphoton fluorescence lifetime imaging of Karpas 299 cells using ACT1 antibody conjugated gold nanoparticles ». Dans European Conference on Biomedical Optics. Washington, D.C. : OSA, 2007. http://dx.doi.org/10.1364/ecbo.2007.6630_47.
Texte intégralQu, Xiaochao, Koop Norbert, Zheng Li, Jing Wang, Zhenxi Zhang et Gereon Hüttmann. « Multiphoton fluorescence lifetime imaging of Karpas 299 cells using ACT1 antibody conjugated gold nanoparticles ». Dans European Conference on Biomedical Optics, sous la direction de Tony Wilson et Ammasi Periasamy. SPIE, 2007. http://dx.doi.org/10.1117/12.728239.
Texte intégralTan, Yanxia, Yong Zhang, Yanlei Zheng, Yacheng Liu, Yan Shi, Yantao Zhou, Guangquan Wang et Yuefeng Ji. « Experimental Demonstration of Hierarchical Control over Multi-Vendor SDOTN Networks Based on Extended ACTN ». Dans Asia Communications and Photonics Conference. Washington, D.C. : OSA, 2020. http://dx.doi.org/10.1364/acpc.2020.t3c.5.
Texte intégralVilalta, Ricard, Young Lee, Haomian Zhang, Yi Lin, Ramon Casellas, Arturo Mayoral, Ricardo Martínez, Raul Muñoz, Luis Miguel Contreras et Victor López. « Fully Automated Peer Service Orchestration of Cloud and Network Resources Using ACTN and CSO ». Dans Optical Fiber Communication Conference. Washington, D.C. : OSA, 2017. http://dx.doi.org/10.1364/ofc.2017.tu3l.2.
Texte intégralVilalta, Ricard, Ramon Casellas, Ricardo Martinez, Raul Munoz, Young Lee, Haomian Zheng, Yi Lin, Victor Lopez et Luis Miguel Contreras. « Fully automated peer service orchestration of cloud and network resources using ACTN and CSO ». Dans 2018 International Conference on Optical Network Design and Modeling (ONDM). IEEE, 2018. http://dx.doi.org/10.23919/ondm.2018.8396118.
Texte intégralRapports d'organisations sur le sujet "ACTN1"
Ceccarelli, D., et Y. Lee, dir. Framework for Abstraction and Control of TE Networks (ACTN). RFC Editor, août 2018. http://dx.doi.org/10.17487/rfc8453.
Texte intégralLee, Y., S. Belotti, D. Dhody, D. Ceccarelli et B. Yoon. Information Model for Abstraction and Control of TE Networks (ACTN). RFC Editor, septembre 2018. http://dx.doi.org/10.17487/rfc8454.
Texte intégralCharles Kessel, et al. The Physics Basis For An Advanced Physics And Advanced Technology Tokamak Power Plant Configuration, ARIES-ACT1. Office of Scientific and Technical Information (OSTI), mars 2014. http://dx.doi.org/10.2172/1128915.
Texte intégralDhody, D., Y. Lee et D. Ceccarelli. Applicability of the Path Computation Element (PCE) to the Abstraction and Control of TE Networks (ACTN). RFC Editor, juillet 2019. http://dx.doi.org/10.17487/rfc8637.
Texte intégral