Zeitschriftenartikel zum Thema „Jungbluth“

Drucken: Moderne Drucker gibt es für die unterschiedlichsten Einsatzgebiete. Bestimmte Fähigkeiten, wie die Netzwerkfähigkeit oder die Ansprechmöglichkeit auch via Smartphone oder Tablet, sind inzwischen bei fast allen Geräten Standard. Von Thomas Jungbluth

AbstractA world key is given to the species of Pyxine with lichexanthone in the upper cortex. Pyxine pustulata Aptroot & Jungbluth is described as a new corticolous species of Pyxine from São Paulo State in Brazil, with lichexanthone in the cortex, upper surface K−, a yellow to ochraceous medulla and clusters of laminal polysidiangia. Brazil is clearly the centre of Pyxine diversity, with 34 out of c. 70 species known worldwide.

Abstract Introduction: Recently, Jungbluth and collaborators (Blood2005;106(1):167) demonstrated that CT7 and MAGE-A3/6 are frequently expressed in advanced stage MM patients and that higher levels of CT7 and MAGE-A3/6 proteins also correlate with elevated plasma-cell proliferation index. These findings suggest a possible pathogenic role of such proteins in MM and also show that they could be attractive targets for immunotherapy. Objectives: To analyze global expression of 13 CTs (MAGE-A1, MAGE-A2, MAGE-A3/6, MAGE-A4, MAGE-A10, MAGE-A12, BAGE-1, CT7, GAGE family, LAGE-1, PRAME, SP17 and SSX-1) in a panel of normal tissues and monoclonal gammopathies. Material and Method: We studied 13 normal tissues (skeletal muscle, bladder, lung, spleen, heart, brain, thymus, uterus, stomach, mammary gland, pancreas, prostate and colon, Clontech), six normal bone marrow aspirates (donors for allogeneic stem-cell transplants), one pool of 10 normal bone marrow samples (Clontech), three monoclonal gammophaties of undertermined significance (MGUS), five solitary plasmacytomas, 39 multiple myeloma samples (two Durie-Salmon stage II and 37 stage III) and MM cell line U266. Normal testis was used as positive control. Total RNA was extracted using Trizol reagent (Invitrogen). After cDNA synthesis, the expression of CTs was evaluated by RT-PCR and 2% agarose gel electrophoresis. Results: SP17 was positive in all seven normal bone marrow samples and in the 13 normal tissues tested. Thus, it was excluded from further analyses. CT7 was positive in one MGUS and in one plasmacytoma. U266 cell line was positive for all CTs, except SSX-1. The frequency of CTs expression in MM patients was: CT7 = 30/39 (77%); LAGE-1 = 18/39 (46%); MAGE-A3/6 = 16/39 (41%); MAGE-A2 = 14/39 (36%); GAGE family = 13/39 (33%); BAGE-1 = 11/39 (28%); MAGE-A1 = 10/39 (26%); PRAME = 9/39 (23%); SSX-1 = 10/39 (26%); MAGE-A12 = 8/39 (20,5%); MAGE-A4 and MAGE-A10 = 0%. It is important to note that from the 18 cases with less CT’s positivity (0, 1 or 2 positive-CTs), three were negative for all of them. Twelve of the remaining 15 cases (80%) were positive for CT7. We did not find association between International Scoring System and percentage of expressed CTs in 36 analyzed MM cases. Conclusion: Our results showed high frequency of expression of CT7 in advanced stage MM patients and support its importance as a target for immunotherapy, because it has a high incidence of positivity even in cases without expression of other CTs. As far we know, this is the second study showing high frequency (~ 50%) of LAGE-1 expression in MM (van Baren et al, 1999), also highlighting its importance as therapeutic target.

AbstractBased on separately obtained and analyzed molecular data and within the framework of a global revision of the family Trypetheliaceae, 21 new species are described, from the Neotropics and tropical Asia, in the genera Architrypethelium (1), Astrothelium (15), Bathelium (1), Nigrovothelium (1), Trypethelium (1), and Viridothelium (2), namely: Architrypethelium lauropaluanum Lücking, M. P. Nelsen & Marcelli sp. nov., differing from A. hyalinum in the perithecia immersed between coarse thallus verrucae and in the additional ascospore septa; Astrothelium aurantiacocinereum Lücking, Naksuwankul & Lumbsch sp. nov., differing from A. aeneum in the prominent, well-delimited, trypethelioid pseudostromata and the absence of pigment on the thallus surface, as well as in the barely lichenized thallus; A. carassense Lücking, M. P. Nelsen & Marcelli sp. nov., differing from A. purpurascens in orange, K+ red pseudostroma pigment and the slightly larger ascospores; A. cryptolucens Lücking, M. P. Nelsen & N. Salazar sp. nov., differing from A. carrascoense in the inspersed hymenium; A. fijiense Lücking, Naksuwankul & Lumbsch sp. nov., differing from A. cinereorosellum in the presence of lichexanthone on the well-delimited pseudostromata and in the slightly shorter ascospores; A. laevithallinum Lücking, M. P. Nelsen & Marcelli sp. nov., differing from A. endochryseum in the smooth thallus; A. leucosessile Lücking, M. P. Nelsen & Aptroot sp. nov., differing from A. phlyctaena in the conspicuous, sessile pseudostromata; A. macrostomoides Lücking, M. P. Nelsen & Benatti sp. nov., differing from A. macrostomum in the larger ascospores; A. megacrypticum Lücking, M. P. Nelsen & N. Salazar sp. nov., differing from A. longisporum in the single-spored asci and larger ascospores; A. nicaraguense Lücking, M. P. Nelsen & T. Orozco sp. nov., differing from A. gigantosporum in the smaller ascospores; A. norisianum Lücking, M. P. Nelsen & Aptroot sp. nov., differing from A. sepultum in the distinct, well-delimited pseudostromata; A. obtectum Lücking, M. P. Nelsen & Benatti sp. nov., differing from A. nigrocacuminum in the smaller ascospores; A. sordithecium Lücking, M. P. Nelsen & Marcelli sp. nov., differing from A. leucothelium in the inspersed hymenium and the absence of lichexanthone from the thallus surface outside the pseudostromata; A. subendochryseum Lücking, M. P. Nelsen & Marcelli sp. nov., differing from A. endochryseum in the absence of pigment in the pseudostromata and the lateral thallus cover of the pseudostromata; A. subinterjectum Lücking, M. P. Nelsen & Jungbluth sp. nov., differing from A. obtectum in the smaller pseudostromata and smaller ascospores, and from A. interjectum in the diffuse pseudostromata and smaller ascospores; Bathelium porinosporum Lücking, M. P. Nelsen & Gueidan sp. nov., differing from other Bathelium species in the 3-septate, euseptate ascospores; Nigrovothelium bullatum Lücking, Upreti & Lumbsch sp. nov., differing from N. tropicum in the bullate thallus; Trypethelium tolimense Lücking, Moncada & M. Gut. sp. nov., differing from T. xanthoplatystomum in the absence of a yellow-orange pigment on the pseudostromata and the K+ yellow (not K+ red) medullary pigment; Viridothelium tricolor Lücking, M. P. Nelsen & N. Salazar sp. nov., characterized by black perithecia with a lateral ostiole immersed in white pseudostromata strongly contrasting with the surrounding brown thallus, in combination with 2-spored asci and large, muriform ascospores; and V. vonkonratii Lücking, Naksuwankul & Lumbsch sp. nov., differing from V. virens in larger ascospores and mostly solitary ascomata. All species are illustrated and their taxonomy and phylogenetic relationships are discussed. ITS barcoding sequences are reported for five specimens of Bathelium porinosporum.

Abstract Abstract 4055 Cancer-testis (CT) antigens are a family of proteins normally expressed in immune privileged sites such as testicular germ cells and placenta, but are overexpressed in various malignant tumors (Scanlan et al. Immunological Rev. 2002). CT antigens are therefore useful markers of malignancy as well as potential targets for antigen specific cancer immunotherapy. In multiple myeloma, CT 7, CT10 and MAGE-A are homogenously expressed in up to 75% of cases, and their expression increases with disease stage and cell proliferation (Jungbluth et al. Blood, 2005). In addition, CT-7 and MAGE-A3 play a role in plasma cell proliferation and chemosensitivity (Atanackovic et al. Haematologica 2010). Immunogenicity of CT antigens is evidenced by spontaneous humoral responses against CT antigens in patients with multiple myeloma (Cohen et al. ASH abstract 2008). In addition, anti-CT antigen immune responses of donor derived T and B cells have been reported following allogeneic stem cell transplantation, suggesting CT antigens may serve as a natural target for a graft-versus myeloma effect (Atanackovic et al. Blood 2007). Systemic light-chain (AL) amyloidosis is a plasma cell dyscrasia related to multiple myeloma characterized by small numbers of non-proliferating, clonogenic plasma cells producing pathologic light chains. In this study, we investigated the expression of several CT antigens in patients with AL amyloidosis to identify potential targets for immunotherapy and determine their prognostic significance. Methods: Fifteen cases of AL amyloidosis were studied employing standard IHC techniques on paraffin-embedded archival tissues. Presence of plasma cells was verified by CD138 immunostain. The following monoclonal antibodies (to the following CT Antigens) were used: mAb MA454 (MAGE-A1), 6C1 (several MAGE-A antigens), 57B (MAGE-A4), E978 (NY-ESO-1), CT7-33(CT7), CT10#5 (CT10), #26 (GAGE). Immunopositivity was graded based on the amount of IHC-positive plasma cells. Results: All 15 patients had a confirmed diagnosis of AL amyloidosis with an average plasma cell burden of 12.7% of the cells in the marrow. Eighty-seven percent (13/15) had lambda disease and 13% (2/15) kappa disease. Organ involvement included kidney (n=7)), heart (n=8), peripheral nervous system (n=2), and GI/liver (n=2). Five patients (33%) had multi-organ involvement. All patients were treated uniformly with risk-adapted melphalan as their initial therapy. CT7 was present in 9/15 (60%) while CT10 was demonstrated in only 1/15 AL amyloid cases. Plasma cells did not stain with any other anti-CT mAb. There were no significant differences with regard to organ involvement, response to treatment or prognosis and CT antigen positivity in this small sample set. Discussion: This is the first study identifying CT7 as the prevalent CT antigen in plasma cells of patients with AL amyloidosis. The almost exclusive presence of CT7 in AL amyloidosis may have clinical significance. Further studies are planned on additional samples to confirm the prevalence of CT7 expression in AL amyloidosis, determine its immunogenicity and further investigate prognostic implications. Additional studies are needed to determine the biology of CT antigens in AL amyloidosis and their value as a potential target for immunotherapy. Disclosures: Comenzo: Millenium Pharmaceuticals: Membership on an entity's Board of Directors or advisory committees; Elan Pharmaceuticals: Consultancy; Genzyme: Research Funding; Celgene: Research Funding; Ortho: Research Funding.

RESUMO: Buscamos, neste artigo, demonstrar como a narradora-personagem de “Coisas que acarinho e me morrem entre os dedos”, conto da autora portuguesa Dulce Maria Cardoso, constrói a si mesma e ao seu Outro a partir de fragmentos que fazem referências a serviços da ferramenta de busca Google e espaços pessoais na internet (blog e Facebook), evocando, pois, as novas mídias. Uma vez que esses fragmentos têm seu efeito potencializado ao serem escritos em uma fonte diferente daquela que é padrão no texto, eles geram pausas que desautomatizam (MARTONI, 2020) o que seria uma leitura convencional. Ao mesmo tempo, quando esses fragmentos são inseridos em meio ao parágrafo de narração da protagonista, passam a ser também a voz dela, em um movimento cuja descrição partirá aqui das noções de gesto escritural (DOMINGOS; JUNGBLUT, 2020) e sensibilidade intermidial (MARTONI, 2020).

This variable describes how a war is depicted in the photos published by a news organization. It thereby suggests what interpretation or perspective on a war is promoted through the visual layer of news discourse. Visual frame analyses of war coverage have largely relied on deductive analyses. As such, studies measure frames that have been derived from the existing literature or small pilot studies (cf. Jungblut & Zakareviciute, 2019). Some of these deductive frames have been applied in multiple studies that are focused on a variety of conflict cases (e.g. Schwalbe, 2013; Schwalbe & Dougherty, 2015). Field of application/theoretical foundation: Visual frame analysis is grounded in the framing approach that describes a media frame as the result of a journalistic process of selecting some aspects of a given social reality and making them more salient than others (Entman, 1993). As such, visual framing is often measured to analyze how a war is depicted in the news. Research thus aims to unravel what image of a war is transported to the audience and thereby seeks to understand if there is a bias towards one of the involved conflict parties. As a result, visual frames usually tend to be conceptualized as the dependent variable within a research design (cf. Jungblut & Zakareviciute, 2019; Schwalbe, 2013). References/combination with other methods of data collection: Experimental research designs have been used to analyze the effect of different visual frames. In this, research examines whether visual framing can affect recipients’ attitude towards conflict parties and whether frames can evoke an emotional response in the audience (Brantner, Lobinger & Wetzstein, 2011). Sample operationalization: Please indicate which of these frames is present in the photo. In each photo, multiple frames can be present at the same time. Frame Description Measurement Conflict Frame Depiction of the combatants, including weapons, troops, POWs, and combat 0 = frame is absent 1 = frame is present Human Interest Frame Depiction of noncombatants, such as civilians and humanitarian relief workers 0 = frame is absent 1 = frame is present Violence of War Frame Depiction of the results of conflict, such as injury, death, and destruction 0 = frame is absent 1 = frame is present Anti-War Protest Frame Depiction of anti-war demonstrations and protests 0 = frame is absent 1 = frame is present Media Self-Reference Frame Depiction of journalists at home and in the conflict zone 0 = frame is absent 1 = frame is present Politicians Frame Depiction of politicians and negotiations 0 = frame is absent 1 = frame is present Looting Frame Depiction of looting 0 = frame is absent 1 = frame is present Oil Resources Frame Depiction of oil fields and refineries 0 = frame is absent 1 = frame is present Information on Schwalbe, 2013 Author: Carol B. Schwalbe Research question/research interest: Visually Framing of the Iraq War in TIME, Newsweek, and U.S. News & World Report Object of analysis: Three News Magazines (TIME, Newsweek and U.S. News & World Report) timeframe of analysis: Time frame starts with the opening day of the U.S.-led invasion of Iraq (March 19, 2003) and ended with the transfer of limited sovereignty to the provisional Iraqi government (June 28, 2004). Info about variable Variable name/definition: Deductive visual conflict frame Level of analysis: Image Values: 0 = absent, 1= present (for each of the described frames) Scale: binary (nominal) References Brantner, C., Lobinger, K., & Wetzstein, I. (2011). Effects of visual framing and evaluations of news stories on emotional responses about the Gaza conflict 2009. Journalism & Mass Communication Quarterly, 88(3), 523-540. https://doi.org/10.1177/107769901108800304 Entman, R. M. (1993). Framing: Toward clarification of a fractured paradigm. Journal of Communication, 43(4), 51-58. doi:10.1111/j.1460-2466.1993.tb01304.x Jungblut, M., & Zakareviciute, I. (2019). Do Pictures Tell a Different Story? A multimodal frame analysis of the 2014 Israel-Gaza conflict. Journalism Practice, 13(2), 206-228. https://doi.org/10.1080/17512786.2017.1412804 Schwalbe, C. B. (2013). Visually framing the invasion and occupation of Iraq in Time, Newsweek, and US News & World Report. International Journal of Communication, 7, 239-262. Doi: 1932–8036/20130005 Schwalbe, C. B., & Dougherty, S. M. (2015). Visual coverage of the 2006 Lebanon War: Framing conflict in three US news magazines. Media, War & Conflict, 8(1), 141-162. https://doi.org/10.1177/1750635215571204

This variable describes how a war is framed in a news article. It suggests what interpretation or perspective on a war is promoted through a news item (Dimitrova & Strömbäck, 2008; Entman, 1993). In general, there are two approaches to framing: Deductive frame analyses measure the presence of frames that were derived from prior research or small pilot studies, whereas inductive frame analyses derive the frames from the actual material itself. As such, the frames measured in inductive analyses tend to be case-specific and can rarely be used for other conflict cases and material (cf. Matthes & Kohring, 2008). In deductive frame analyses, however, a set re-occurring frames has been identified and operationalized. They have been measured in the coverage of a variety of wars and in news items that were published in different media organizations (e.g. Carpenter, 2007; Dimitrova & Strömbäck, 2005, 2008). These frames and their operationalizations will be described in the following example. Field of application/theoretical foundation: Frame analyses is grounded in the framing approach that describes a media frame as the result of a journalistic process of selecting some aspects of a given social reality and making them more salient in a given text (Entman, 1993). As such, framing is often measured to analyze how a war is portrayed in the news. In doing so, scholars mainly aim to identify media bias that for example can be the result of ethnocentrism, the editorial line, political influences or the predominant journalism culture (Baden, 2014; Jungblut, 2020; Shoemaker & Reese, 2014). Consequentially, media frames are often regarded as the result of a specific working environment and are thus often conceptualized as a dependent variable (e.g. Carpenter, 2007; Dimitrova & Strömbäck, 2005, 2008). Alternatively, media frames can be understood as the independent variable if a study seeks to unravel whether the media holds an impact on the public opinion on a given war (e.g. Edy & Meirick, 2007). References/combination with other methods of data collection: Frames that have repeatedly been identified in content analytical research have also been used in experimental research designs to unravel if the media portrayal of a war shapes how the audience thinks about this particular war (e.g. Iyengar & Simon, 1993). Similarly, scholars have also combined content analyses with multiple waves of surveys to analyze whether the media, for example, influences the public support for conflict interventions (e.g. Edy & Meirick, 2007). Sample operationalization: Please indicate which of these frames is present in the text. In each article, multiple frames can be present at the same time. Frame Description Measurement Military Conflict Frame There is an emphasis on the military conflict/action among individuals, groups, or institutions 0 = frame is absent 1 = frame is present Human Interest Frame There is an emphasis on the human participants in the event 0 = frame is absent 1 = frame is present Violence of War Frame There is an emphasis on injuries/causalities and the destruction or aftermath caused by war 0 = frame is absent 1 = frame is present Anti-War Protest Frame There is an emphasis on the opposition to war 0 = frame is absent 1 = frame is present Media Self-Reference Frame There is an emphasis on the news media and their reporting of war 0 = frame is absent 1 = frame is present Responsibility Frame There is an emphasis on the party/person responsible for the event, issue, or problem 0 = frame is absent 1 = frame is present Diagnostic Frame There is an emphasis on what caused the event or problem 0 = frame is absent 1 = frame is present Information on Carpenter, 2007 Author: Serena Carpenter Research question/research interest: Portrayal of the Iraq War in Elite and Non-Elite newspapers Object of analysis: Two elite newspapers (New York Times & Washington Post) and four non-elite newspapers (San Antonio Express News, Roanoke Times, News Tribune and Columbus Dispatch) Timeframe of analysis: The study analyzes the framing in three phases: Invasion Phase (March 20, 2003, to May 1, 2003), final two months of the presidential campaign (September 1, 2004, to November 2,2004) & period from the first Iraqi election to the Iraqi National Assembly's vote to approve a cabinet (January 30, 2005, to April 28, 2005) Info about variable Variable name/definition: Deductive conflict frame Level of analysis: Article Values: 0 = absent, 1= present (for each of the described frames) Scale: binary (nominal) Realiability: Scott's pi > 0.86 References Baden, C. (2014). Constructions of violent conflict in public discourse. Conceptual framework for the content & discourse analytic perspective (within WP5, WP6, WP7, & WP8). INFOCORE Working Paper 2014/10. http://www.infocore.eu/wp-content/uploads/2016/02/Conceptual-Paper-MWG-CA_final.pdf Carpenter, S. (2007). US elite and non-elite newspapers' portrayal of the Iraq War: A comparison of frames and source use. Journalism & Mass Communication Quarterly, 84(4), 761-776. doi:10.1177/107769900708400407 Dimitrova, D. V., & Strömbäck, J. (2005). Mission accomplished? Framing of the Iraq War in the elite newspapers in Sweden and the United States. International Communication Gazette, 67(5), 399-417. https://doi.org/10.1177/0016549205056050 Dimitrova, D. V., & Strömbäck, J. (2008). Foreign policy and the framing of the 2003 Iraq War in elite Swedish and US newspapers. Media, War & Conflict, 1(2), 203-220. doi:10.1177/1750635208090957 Edy, J. A., & Meirick, P. C. (2007). Wanted, dead or alive: Media frames, frame adoption, and support for the war in Afghanistan. Journal of Communication, 57(1), 119-141. doi:10.1111/j.1460-2466.2006.00332_4.x Entman, R. M. (1993). Framing: Toward clarification of a fractured paradigm. Journal of Communication, 43(4), 51-58. doi:10.1111/j.1460-2466.1993.tb01304.x Iyengar, S., & Simon, A. (1993). News coverage of the Gulf crisis and public opinion: A study of agenda-setting, priming, and framing. Communication research, 20(3), 365-383. doi:10.1177/009365093020003002 Jungblut, M. (2020). Strategic Communication and its Role in Conflict News: A Computational Analysis of the International News Coverage on Four Conflicts. Springer Nature. Matthes, J., & Kohring, M. (2008). The content analysis of media frames: Toward improving reliability and validity. Journal of Communication, 58(2), 258-279. doi:10.1111/j.1460-2466.2008.00384.x Shoemaker, P. J., & Reese, S. D. (2014). Mediating the message in the 21st century: a media sociology perspective (Third edition. ed.). Routledge.

Malignant hyperthermia (MH) is a clinical response happened to patient who is sensitive with inhaled anesthesia drug that could cause suddently death. Many previous studies showed that malignant hyperthermia strongly related to genetic background of patients including RYR1, CACNA1S or STAC3 gene polymorphisms. With the development of high technology such as next generation sequencing, scientists found that 37 to 86 percents of MH cases had RYR1 mutations and approximately 1 percent of those had CACNA1S mutations. Gene analysis testing was recommended to apply for patient with MH medical history or MH patient’s family relations. Keywords Malignant hyperthermia, inhaled anesthesia, RYR1, CACNA1S, STAC3. References [1] G. Torri, Inhalation anesthetics: a review, Minerva Anestesiologica 76 (2010) 215–228. [2] N. Kassiri, S. Ardehali, F. Rashidi, S. Hashemian, Inhalational anesthetics agents: The pharmacokinetic, pharmacodynamics, and their effects on human body, Biomed. Biotechnol. Res. J. BBRJ 2 (2018) 173. https://doi.org/10.4103/bbrj.bbrj_6618.[3] H. Rosenberg, N. Sambuughin, S. Riazi, R. Dirksen, Malignant Hyperthermia Susceptibility, in: M.P. Adam, H.H. Ardinger, R.A. Pagon, S.E. Wallace, L.J. Bean, K. Stephens, A. Amemiya (Eds.), GeneReviews, University of Washington, Seattle, Seattle (WA), 19932020. http://www.ncbi.nlm.nih.gov/books/NBK1146/ (accessed February 2, 2020).[4] H. Rosenberg, N. Pollock, A. Schiemann, T. Bulger, K. Stowell, Malignant hyperthermia: a review, Orphanet J. Rare Dis 10 (2015) 93. https://doi.org/10.1186/s13023-015-0310-1.[5] D. Carpenter, C. Ringrose, V. Leo, A. Morris, R.L. Robinson, P.J. Halsall, P.M. Hopkins, M.-A. Shaw, The role of CACNA1S in predisposition to malignant hyperthermia, BMC Med. Genet 10 (2009) 104. https://doi.org/10.1186/1471-2350-10-104.[6] S. Riazi, N. Kraeva, P.M. Hopkins, Updated guide for the management of malignant hyperthermia, Can. J. Anaesth. J. Can. Anesth 65 (2018) 709–721. https://doi.org/10.1007/s12630-018-1108-0.[7] S. Riazi, N. Kraeva, P.M. Hopkins, Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept, Anesthesiology 128 (2018) 168–180. https://doi.org/10.1097/ALN.0000000000001878.[8] [D.M. Miller, C. Daly, E.M. Aboelsaod, L. Gardner, S.J. Hobson, K. Riasat, S. Shepherd, R.L. Robinson, J.G. Bilmen, P.K. Gupta, M.-A. Shaw, P.M. Hopkins, Genetic epidemiology of malignant hyperthermia in the UK, BJA Br. J. Anaesth 121 (2018) 944–952. https://doi.org/10.1016/j.bja.2018.06.028.[9] T.A. Beam, E.F. Loudermilk, D.F. Kisor, Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia, Physiol. Genomics 49 (2017) 81–87. https://doi.org/10.1152/physiolgenomics.00126.2016.[10] I.T. Zaharieva, A. Sarkozy, P. Munot, A. Manzur, G. O’Grady, J. Rendu, E. Malfatti, H. Amthor, L. Servais, J.A. Urtizberea, O.A. Neto, E. Zanoteli, S. Donkervoort, J. Taylor, J. Dixon, G. Poke, A.R. Foley, C. Holmes, G. Williams, M. Holder, S. Yum, L. Medne, S. Quijano-Roy, N.B. Romero, J. Fauré, L. Feng, L. Bastaki, M.R. Davis, R. Phadke, C.A. Sewry, C.G. Bönnemann, H. Jungbluth, C. Bachmann, S. Treves, F. Muntoni, STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility, Hum. Mutat 39 (2018) 1980–1994. https://doi.org/10.1002/humu.23635.[11] A.F. Dulhunty, The voltage-activation of contraction in skeletal muscle, Prog. Biophys. Mol. Biol 57 (1992) 181–223. https://doi.org/10.1016/0079-6107(92)90024-Z.[12] C. Franzini-Armstrong, A.O. Jorgensen, Structure and Development of E-C Coupling Units in Skeletal Muscle, Annu. Rev. Physiol 56 (1994) 509–534. https://doi.org/10.1146/annurev.ph.56.030194.002453.[13] D.H. MacLennan, M. Abu-Abed, C. Kang, Structure-function relationships in Ca(2+) cycling proteins, J. Mol. Cell. Cardiol 34 (2002) 897–918. https://doi.org/10.1006/jmcc.2002.2031.[14] H. Rosenberg, M. Davis, D. James, N. Pollock, K. Stowell, Malignant hyperthermia, Orphanet J. Rare Dis 2 (2007) 21. https://doi.org/10.1186/1750-1172-2-21.[15] S.M. Karan, F. Crowl, S.M. Muldoon, Malignant hyperthermia masked by capnographic monitoring, Anesth. Analg 78 (1994) 590–592. https://doi.org/10.1213/00000539-199403000-00029.[16] M.G. Larach, G.A. Gronert, G.C. Allen, B.W. Brandom, E.B. Lehman, Clinical presentation, treatment, and complications of malignant hyperthermia in North America from 1987 to 2006, Anesth. Analg 110 (2010) 498–507. https://doi.org/10.1213/ANE.0b013e3181c6b9b2.[17] M.G. Larach, A.R. Localio, G.C. Allen, M.A. Denborough, F.R. Ellis, G.A. Gronert, R.F. Kaplan, S.M. Muldoon, T.E. Nelson, H. Ording, H. Rosenberg, B.E. Waud, D.J. Wedel, A Clinical Grading Scale to Predict Malignant Hyperthermia Susceptibility, Anesthesiology 80 (1994) 771–779. https://doi.org/10.1097/00000542-199404000-00008.[18] D. Schneiderbanger, S. Johannsen, N. Roewer, F. Schuster, Management of malignant hyperthermia: diagnosis and treatment, Ther. Clin. Risk Manag 10 (2014) 355–362. https://doi.org/10.2147/TCRM.S47632.[19] R. Robinson, D. Carpenter, M.-A. Shaw, J. Halsall, P. Hopkins, Mutations in RYR1 in malignant hyperthermia and central core disease, Hum. Mutat 27 (2006) 977–989. https://doi.org/10.1002/humu.20356.[20] M.L. Alvarellos, R.M. Krauss, R.A. Wilke, R.B. Altman, T.E. Klein, PharmGKB summary: very important pharmacogene information for RYR1, Pharmacogenet. Genomics 26 (2016) 138–144. https://doi.org/10.1097/FPC.0000000000000198.[21] A. Merritt, P. Booms, M.-A. Shaw, D.M. Miller, C. Daly, J.G. Bilmen, K.M. Stowell, P.D. Allen, D.S. Steele, P.M. Hopkins, Assessing the pathogenicity of RYR1 variants in malignant hyperthermia, BJA Br. J. Anaesth 118 (2017) 533–543. https://doi.org/10.1093/bja/aex042.[22] P.M. Hopkins, H. Rüffert, M.M. Snoeck, T. Girard, K.P.E. Glahn, F.R. Ellis, C.R. Müller, A. Urwyler, European Malignant Hyperthermia Group, European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility, Br. J. Anaesth 115 (2015) 531–539. https://doi.org/10.1093/bja/aev225.[23] N.T. Thuy, L.N. Thanh, N.T.T. Mau, N.H. Hoang, N.T.K. Lien, D.D. Long, N.T. Bình, D.A. Tien, N.C. Huu, N.T. Hieu, P.T.H. Nhung, V.T. Thom, Whole exome sequencing revealed a pathogenic variant in a gene related to malignant hyperthermia in a Vietnamese cardiac surgical patient: A case report, Ann. Med. Surg 48 (2019) 88–90. https://doi.org/10.1016/j.amsu.2019.10.030.[24] B. Neuhuber, U. Gerster, F. Döring, H. Glossmann, T. Tanabe, B.E. Flucher, Association of calcium channel α1S and β1a subunits is required for the targeting of β1a but not of α1S into skeletal muscle triads, Proc. Natl. Acad. Sci. U. S. A 95 (1998) 5015–5020. https://doi.org/10.1073/pnas.95.9.5015.[25] M. Whirl-Carrillo, E.M. McDonagh, J.M. Hebert, L. Gong, K. Sangkuhl, C.F. Thorn, R.B. Altman, T.E. Klein, Pharmacogenomics Knowledge for Personalized Medicine, Clin. Pharmacol. Ther 92 (2012) 414–417. https://doi.org/10.1038/clpt.2012.96.[26] N. Monnier, V. Procaccio, P. Stieglitz, J. Lunardi, Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle, Am. J. Hum. Genet 60 (1997) 1316–1325 . https://doi.org/10.1086/515454.[27] S.L. Stewart, K. Hogan, H. Rosenberg, J.E. Fletcher, Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia, Clin. Genet 59 (2001) 178–184. https://doi.org/10.1034/j.1399 0004.2001.590306.x.[28] P.J. Toppin, T.T. Chandy, A. Ghanekar, N. Kraeva, W.S. Beattie, S. Riazi, A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene, Can. J. Anaesth. J. Can. Anesth 57 (2010) 689–693. https://doi.org/10.1007/s12630-010-9314-4.[29] E.J. Horstick, J.W. Linsley, J.J. Dowling, M.A. Hauser, K.K. McDonald, A. Ashley-Koch, L. Saint-Amant, A. Satish, W.W. Cui, W. Zhou, S.M. Sprague, D.S. Stamm, C.M. Powell, M.C. Speer, C. Franzini-Armstrong, H. Hirata, J.Y. Kuwada, Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy, Nat. Commun 4 (2013) 1952. https://doi.org/10.1038/ncomms2952.[30] D.S. Stamm, A.S. Aylsworth, J.M. Stajich, S.G. Kahler, L.B. Thorne, M.C. Speer, C.M. Powell, Native American myopathy: Congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia, Am. J. Med. Genet. A 146A (2008) 1832–1841. https://doi.org/10.1002/ajmg.a.32370.[31] A. Polster, B.R. Nelson, S. Papadopoulos, E.N. Olson, K.G. Beam, Stac proteins associate with the critical domain for excitation–contraction coupling in the II–III loop of CaV1.1, J. Gen. Physiol 150 (2018) 613–624. https://doi.org/10.1085/jgp.201711917.[32] S.M. Wong King Yuen, M. Campiglio, C.-C. Tung, B.E. Flucher, F. Van Petegem, Structural insights into binding of STAC proteins to voltage-gated calcium channels, Proc. Natl. Acad. Sci 114 (2017) E9520–E9528. https://doi.org/10.1073/pnas.1708852114.[33] M. Grabner, R.T. Dirksen, N. Suda, K.G. Beam, The II-III loop of the skeletal muscle dihydropyridine receptor is responsible for the Bi-directional coupling with the ryanodine receptor, J. Biol. Chem 274 (1999) 21913–21919. https://doi.org/10.1074/jbc.274.31.21913.[34] J. Nakai, T. Tanabe, T. Konno, B. Adams, K.G. Beam, Localization in the II-III loop of the dihydropyridine receptor of a sequence critical for excitation-contraction coupling, J. Biol. Chem 273 (1998) 24983–24986. https://doi.org/10.1074/jbc.273.39.24983.[35] C.J. Morton, I.D. Campbell, SH3 domains. Molecular “Velcro,” Curr. Biol. CB 4 (1994) 615–617. https://doi.org/10.1016/s0960-9822(00)00134-2.[36] A. Zafra-Ruano, I. Luque, Interfacial water molecules in SH3 interactions: Getting the full picture on polyproline recognition by protein-protein interaction domains, FEBS Lett 586 (2012) 2619–2630. https://doi.org/10.1016/j.febslet.2012.04.057.