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Article ; Online: CFTR Modulators Rescue the Activity of CFTR in Colonoids Expressing the Complex Allele p.[R74W;V201M;D1270N]/dele22_24.

Kleinfelder, Karina / Somenza, Elena / Farinazzo, Alessia / Conti, Jessica / Lotti, Virginia / Latorre, Roberta Valeria / Rodella, Luca / Massella, Arianna / Tomba, Francesco / Bertini, Marina / Sorio, Claudio / Melotti, Paola

International journal of molecular sciences

2023 Volume 24, Issue 6

Abstract: An Italian, 46-year-old female patient carrying the complex allele p.[R74W;V201M;D1270N] in trans ...

Abstract	An Italian, 46-year-old female patient carrying the complex allele p.[R74W;V201M;D1270N] in trans with CFTR dele22_24 was diagnosed at the Cystic Fibrosis (CF) Center of Verona as being affected by CF-pancreatic sufficient (CF-PS) in 2021. The variant V201M has unknown significance, while both of the other variants of this complex allele have variable clinical consequences, according to the CFTR2 database, with reported clinical benefits for treatment with ivacaftor + tezacaftor and ivacaftor + tezacaftor + elexacaftor in patients carrying the R74W-D1270N complex allele, which are currently approved (in USA, not yet in Italy). She was previously followed up by pneumologists in northern Italy because of frequent bronchitis, hemoptysis, recurrent rhinitis,
MeSH term(s)	Female ; Humans ; Middle Aged ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/metabolism ; Alleles ; Colforsin/therapeutic use ; Mutation ; Cystic Fibrosis/drug therapy ; Cystic Fibrosis/genetics ; Benzodioxoles/pharmacology ; Benzodioxoles/therapeutic use
Chemical Substances	Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6) ; ivacaftor (1Y740ILL1Z) ; Colforsin (1F7A44V6OU) ; Benzodioxoles ; CFTR protein, human
Language	English
Publishing date	2023-03-08
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms24065199
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Constraining the p-Mode-g-Mode Tidal Instability with GW170817.

Abbott, B P / Abbott, R / Abbott, T D / Acernese, F / Ackley, K / Adams, C / Adams, T / Addesso, P / Adhikari, R X / Adya, V B / Affeldt, C / Agarwal, B / Agathos, M / Agatsuma, K / Aggarwal, N / Aguiar, O D / Aiello, L / Ain, A / Ajith, P /

Allen, B / Allen, G / Allocca, A / Aloy, M A / Altin, P A / Amato, A / Ananyeva, A / Anderson, S B / Anderson, W G / Angelova, S V / Antier, S / Appert, S / Arai, K / Araya, M C / Areeda, J S / Arène, M / Arnaud, N / Arun, K G / Ascenzi, S / Ashton, G / Ast, M / Aston, S M / Astone, P / Atallah, D V / Aubin, F / Aufmuth, P / Aulbert, C / AultONeal, K / Austin, C / Avila-Alvarez, A / Babak, S / Bacon, P / Badaracco, F / Bader, M K M / Bae, S / Baker, P T / Baldaccini, F / Ballardin, G / Ballmer, S W / Banagiri, S / Barayoga, J C / Barclay, S E / Barish, B C / Barker, D / Barkett, K / Barnum, S / Barone, F / Barr, B / Barsotti, L / Barsuglia, M / Barta, D / Bartlett, J / Bartos, I / Bassiri, R / Basti, A / Batch, J C / Bawaj, M / Bayley, J C / Bazzan, M / Bécsy, B / Beer, C / Bejger, M / Belahcene, I / Bell, A S / Beniwal, D / Bensch, M / Berger, B K / Bergmann, G / Bernuzzi, S / Bero, J J / Berry, C P L / Bersanetti, D / Bertolini, A / Betzwieser, J / Bhandare, R / Bilenko, I A / Bilgili, S A / Billingsley, G / Billman, C R / Birch, J / Birney, R / Birnholtz, O / Biscans, S / Biscoveanu, S / Bisht, A / Bitossi, M / Bizouard, M A / Blackburn, J K / Blackman, J / Blair, C D / Blair, D G / Blair, R M / Bloemen, S / Bock, O / Bode, N / Boer, M / Boetzel, Y / Bogaert, G / Bohe, A / Bondu, F / Bonilla, E / Bonnand, R / Booker, P / Boom, B A / Booth, C D / Bork, R / Boschi, V / Bose, S / Bossie, K / Bossilkov, V / Bosveld, J / Bouffanais, Y / Bozzi, A / Bradaschia, C / Brady, P R / Bramley, A / Branchesi, M / Brau, J E / Briant, T / Brighenti, F / Brillet, A / Brinkmann, M / Brisson, V / Brockill, P / Brooks, A F / Brown, D D / Brunett, S / Buchanan, C C / Buikema, A / Bulik, T / Bulten, H J / Buonanno, A / Buskulic, D / Buy, C / Byer, R L / Cabero, M / Cadonati, L / Cagnoli, G / Cahillane, C / Calderón Bustillo, J / Callister, T A / Calloni, E / Camp, J B / Canepa, M / Canizares, P / Cannon, K C / Cao, H / Cao, J / Capano, C D / Capocasa, E / Carbognani, F / Caride, S / Carney, M F / Casanueva Diaz, J / Casentini, C / Caudill, S / Cavaglià, M / Cavalier, F / Cavalieri, R / Cella, G / Cepeda, C B / Cerdá-Durán, P / Cerretani, G / Cesarini, E / Chaibi, O / Chamberlin, S J / Chan, M / Chao, S / Charlton, P / Chase, E / Chassande-Mottin, E / Chatterjee, D / Chatziioannou, Katerina / Cheeseboro, B D / Chen, H Y / Chen, X / Chen, Y / Cheng, H-P / Chia, H Y / Chincarini, A / Chiummo, A / Chmiel, T / Cho, H S / Cho, M / Chow, J H / Christensen, N / Chu, Q / Chua, A J K / Chua, S / Chung, K W / Chung, S / Ciani, G / Ciobanu, A A / Ciolfi, R / Cipriano, F / Cirelli, C E / Cirone, A / Clara, F / Clark, J A / Clearwater, P / Cleva, F / Cocchieri, C / Coccia, E / Cohadon, P-F / Cohen, D / Colla, A / Collette, C G / Collins, C / Cominsky, L R / Constancio, M / Conti, L / Cooper, S J / Corban, P / Corbitt, T R / Cordero-Carrión, I / Corley, K R / Cornish, N / Corsi, A / Cortese, S / Costa, C A / Cotesta, R / Coughlin, M W / Coughlin, S B / Coulon, J-P / Countryman, S T / Couvares, P / Covas, P B / Cowan, E E / Coward, D M / Cowart, M J / Coyne, D C / Coyne, R / Creighton, J D E / Creighton, T D / Cripe, J / Crowder, S G / Cullen, T J / Cumming, A / Cunningham, L / Cuoco, E / Canton, T Dal / Dálya, G / Danilishin, S L / D'Antonio, S / Danzmann, K / Dasgupta, A / Costa, C F Da Silva / Dattilo, V / Dave, I / Davier, M / Davis, D / Daw, E J / Day, B / DeBra, D / Deenadayalan, M / Degallaix, J / De Laurentis, M / Deléglise, S / Del Pozzo, W / Demos, N / Denker, T / Dent, T / De Pietri, R / Derby, J / Dergachev, V / De Rosa, R / De Rossi, C / DeSalvo, R / de Varona, O / Dhurandhar, S / Díaz, M C / Di Fiore, L / Di Giovanni, M / Di Girolamo, T / Di Lieto, A / Ding, B / Di Pace, S / Di Palma, I / Di Renzo, F / Dmitriev, A / Doctor, Z / Dolique, V / Donovan, F / Dooley, K L / Doravari, S / Dorrington, I / Dovale Álvarez, M / Downes, T P / Drago, M / Dreissigacker, C / Driggers, J C / Du, Z / Dupej, P / Dwyer, S E / Easter, P J / Edo, T B / Edwards, M C / Effler, A / Eggenstein, H-B / Ehrens, P / Eichholz, J / Eikenberry, S S / Eisenmann, M / Eisenstein, R A / Essick, R C / Estelles, H / Estevez, D / Etienne, Z B / Etzel, T / Evans, M / Evans, T M / Fafone, V / Fair, H / Fairhurst, S / Fan, X / Farinon, S / Farr, B / Farr, W M / Fauchon-Jones, E J / Favata, M / Fays, M / Fee, C / Fehrmann, H / Feicht, J / Fejer, M M / Feng, F / Fernandez-Galiana, A / Ferrante, I / Ferreira, E C / Ferrini, F / Fidecaro, F / Fiori, I / Fiorucci, D / Fishbach, M / Fisher, R P / Fishner, J M / Fitz-Axen, M / Flaminio, R / Fletcher, M / Fong, H / Font, J A / Forsyth, P W F / Forsyth, S S / Fournier, J-D / Frasca, S / Frasconi, F / Frei, Z / Freise, A / Frey, R / Frey, V / Fritschel, P / Frolov, V V / Fulda, P / Fyffe, M / Gabbard, H A / Gadre, B U / Gaebel, S M / Gair, J R / Gammaitoni, L / Ganija, M R / Gaonkar, S G / Garcia, A / García-Quirós, C / Garufi, F / Gateley, B / Gaudio, S / Gaur, G / Gayathri, V / Gemme, G / Genin, E / Gennai, A / George, D / George, J / Gergely, L / Germain, V / Ghonge, S / Ghosh, Abhirup / Ghosh, Archisman / Ghosh, S / Giacomazzo, B / Giaime, J A / Giardina, K D / Giazotto, A / Gill, K / Giordano, G / Glover, L / Goetz, E / Goetz, R / Goncharov, B / González, G / Gonzalez Castro, J M / Gopakumar, A / Gorodetsky, M L / Gossan, S E / Gosselin, M / Gouaty, R / Grado, A / Graef, C / Granata, M / Grant, A / Gras, S / Gray, C / Greco, G / Green, A C / Green, R / Gretarsson, E M / Groot, P / Grote, H / Grunewald, S / Gruning, P / Guidi, G M / Gulati, H K / Guo, X / Gupta, A / Gupta, M K / Gushwa, K E / Gustafson, E K / Gustafson, R / Halim, O / Hall, B R / Hall, E D / Hamilton, E Z / Hamilton, H F / Hammond, G / Haney, M / Hanke, M M / Hanks, J / Hanna, C / Hannam, M D / Hannuksela, O A / Hanson, J / Hardwick, T / Harms, J / Harry, G M / Harry, I W / Hart, M J / Haster, C-J / Haughian, K / Healy, J / Heidmann, A / Heintze, M C / Heitmann, H / Hello, P / Hemming, G / Hendry, M / Heng, I S / Hennig, J / Heptonstall, A W / Hernandez, F J / Heurs, M / Hild, S / Hinderer, T / Hoak, D / Hochheim, S / Hofman, D / Holland, N A / Holt, K / Holz, D E / Hopkins, P / Horst, C / Hough, J / Houston, E A / Howell, E J / Hreibi, A / Huerta, E A / Huet, D / Hughey, B / Hulko, M / Husa, S / Huttner, S H / Huynh-Dinh, T / Iess, A / Indik, N / Ingram, C / Inta, R / Intini, G / Isa, H N / Isac, J-M / Isi, M / Iyer, B R / Izumi, K / Jacqmin, T / Jani, K / Jaranowski, P / Johnson, D S / Johnson, W W / Jones, D I / Jones, R / Jonker, R J G / Ju, L / Junker, J / Kalaghatgi, C V / Kalogera, V / Kamai, B / Kandhasamy, S / Kang, G / Kanner, J B / Kapadia, S J / Karki, S / Karvinen, K S / Kasprzack, M / Katolik, M / Katsanevas, S / Katsavounidis, E / Katzman, W / Kaufer, S / Kawabe, K / Keerthana, N V / Kéfélian, F / Keitel, D / Kemball, A J / Kennedy, R / Key, J S / Khalili, F Y / Khamesra, B / Khan, H / Khan, I / Khan, S / Khan, Z / Khazanov, E A / Kijbunchoo, N / Kim, Chunglee / Kim, J C / Kim, K / Kim, W / Kim, W S / Kim, Y-M / King, E J / King, P J / Kinley-Hanlon, M / Kirchhoff, R / Kissel, J S / Kleybolte, L / Klimenko, S / Knowles, T D / Koch, P / Koehlenbeck, S M / Koley, S / Kondrashov, V / Kontos, A / Korobko, M / Korth, W Z / Kowalska, I / Kozak, D B / Krämer, C / Kringel, V / Krishnan, B / Królak, A / Kuehn, G / Kumar, P / Kumar, R / Kumar, S / Kuo, L / Kutynia, A / Kwang, S / Lackey, B D / Lai, K H / Landry, M / Lang, R N / Lange, J / Lantz, B / Lanza, R K / Lartaux-Vollard, A / Lasky, P D / Laxen, M / Lazzarini, A / Lazzaro, C / Leaci, P / Leavey, S / Lee, C H / Lee, H K / Lee, H M / Lee, H W / Lee, K / Lehmann, J / Lenon, A / Leonardi, M / Leroy, N / Letendre, N / Levin, Y / Li, J / Li, T G F / Li, X / Linker, S D / Littenberg, T B / Liu, J / Liu, X / Lo, R K L / Lockerbie, N A / London, L T / Longo, A / Lorenzini, M / Loriette, V / Lormand, M / Losurdo, G / Lough, J D / Lovelace, G / Lück, H / Lumaca, D / Lundgren, A P / Lynch, R / Ma, Y / Macas, R / Macfoy, S / Machenschalk, B / MacInnis, M / Macleod, D M / Magaña Hernandez, I / Magaña-Sandoval, F / Magaña Zertuche, L / Magee, R M / Majorana, E / Maksimovic, I / Man, N / Mandic, V / Mangano, V / Mansell, G L / Manske, M / Mantovani, M / Marchesoni, F / Marion, F / Márka, S / Márka, Z / Markakis, C / Markosyan, A S / Markowitz, A / Maros, E / Marquina, A / Martelli, F / Martellini, L / Martin, I W / Martin, R M / Martynov, D V / Mason, K / Massera, E / Masserot, A / Massinger, T J / Masso-Reid, M / Mastrogiovanni, S / Matas, A / Matichard, F / Matone, L / Mavalvala, N / Mazumder, N / McCann, J J / McCarthy, R / McClelland, D E / McCormick, S / McCuller, L / McGuire, S C / McIver, J / McManus, D J / McRae, T / McWilliams, S T / Meacher, D / Meadors, G D / Mehmet, M / Meidam, J / Mejuto-Villa, E / Melatos, A / Mendell, G / Mendoza-Gandara, D / Mercer, R A / Mereni, L / Merilh, E L / Merzougui, M / Meshkov, S / Messenger, C / Messick, C / Metzdorff, R / Meyers, P M / Miao, H / Michel, C / Middleton, H / Mikhailov, E E / Milano, L / Miller, A L / Miller, A / Miller, B B / Miller, J / Millhouse, M / Mills, J / Milovich-Goff, M C / Minazzoli, O / Minenkov, Y / Ming, J / Mishra, C / Mitra, S / Mitrofanov, V P / Mitselmakher, G / Mittleman, R / Moffa, D / Mogushi, K / Mohan, M / Mohapatra, S R P / Montani, M / Moore, C J / Moraru, D / Moreno, G / Morisaki, S / Mours, B / Mow-Lowry, C M / Mueller, G / Muir, A W / Mukherjee, Arunava / Mukherjee, D / Mukherjee, S / Mukund, N / Mullavey, A / Munch, J / Muñiz, E A / Muratore, M / Murray, P G / Nagar, A / Napier, K / Nardecchia, I / Naticchioni, L / Nayak, R K / Neilson, J / Nelemans, G / Nelson, T J N / Nery, M / Neunzert, A / Nevin, L / Newport, J M / Ng, K Y / Ng, S / Nguyen, P / Nguyen, T T / Nichols, D / Nielsen, A B / Nissanke, S / Nitz, A / Nocera, F / Nolting, D / North, C / Nuttall, L K / Obergaulinger, M / Oberling, J / O'Brien, B D / O'Dea, G D / Ogin, G H / Oh, J J / Oh, S H / Ohme, F / Ohta, H / Okada, M A / Oliver, M / Oppermann, P / Oram, Richard J / O'Reilly, B / Ormiston, R / Ortega, L F / O'Shaughnessy, R / Ossokine, S / Ottaway, D J / Overmier, H / Owen, B J / Pace, A E / Pagano, G / Page, J / Page, M A / Pai, A / Pai, S A / Palamos, J R / Palashov, O / Palomba, C / Pal-Singh, A / Pan, Howard / Pan, Huang-Wei / Pang, B / Pang, P T H / Pankow, C / Pannarale, F / Pant, B C / Paoletti, F / Paoli, A / Papa, M A / Parida, A / Parker, W / Pascucci, D / Pasqualetti, A / Passaquieti, R / Passuello, D / Patil, M / Patricelli, B / Pearlstone, B L / Pedersen, C / Pedraza, M / Pedurand, R / Pekowsky, L / Pele, A / Penn, S / Perez, C J / Perreca, A / Perri, L M / Pfeiffer, H P / Phelps, M / Phukon, K S / Piccinni, O J / Pichot, M / Piergiovanni, F / Pierro, V / Pillant, G / Pinard, L / Pinto, I M / Pirello, M / Pitkin, M / Poggiani, R / Popolizio, P / Porter, E K / Possenti, L / Post, A / Powell, J / Prasad, J / Pratt, J W W / Pratten, G / Predoi, V / Prestegard, T / Principe, M / Privitera, S / Prodi, G A / Prokhorov, L G / Puncken, O / Punturo, M / Puppo, P / Pürrer, M / Qi, H / Quetschke, V / Quintero, E A / Quitzow-James, R / Rabeling, D S / Radkins, H / Raffai, P / Raja, S / Rajan, C / Rajbhandari, B / Rakhmanov, M / Ramirez, K E / Ramos-Buades, A / Rana, Javed / Rapagnani, P / Raymond, V / Razzano, M / Read, J / Regimbau, T / Rei, L / Reid, S / Reitze, D H / Ren, W / Ricci, F / Ricker, P M / Riles, K / Rizzo, M / Robertson, N A / Robie, R / Robinet, F / Robson, T / Rocchi, A / Rolland, L / Rollins, J G / Roma, V J / Romano, R / Romel, C L / Romie, J H / Rosińska, D / Ross, M P / Rowan, S / Rüdiger, A / Ruggi, P / Rutins, G / Ryan, K / Sachdev, S / Sadecki, T / Sakellariadou, M / Salconi, L / Saleem, M / Salemi, F / Samajdar, A / Sammut, L / Sampson, L M / Sanchez, E J / Sanchez, L E / Sanchis-Gual, N / Sandberg, V / Sanders, J R / Sarin, N / Sassolas, B / Saulson, P R / Sauter, O / Savage, R L / Sawadsky, A / Schale, P / Scheel, M / Scheuer, J / Schmidt, P / Schnabel, R / 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Physical review letters

2019 Volume 122, Issue 6, Page(s) 61104

Abstract: We analyze the impact of a proposed tidal instability coupling p modes and g modes within neutron ... we compute the Bayes factor (lnB_{!pg}^{pg}) comparing our p-g model to a standard one. We find ... that the observed signal is consistent with waveform models that neglect p-g effects, with lnB_{!pg}^{pg}=0.03_{-0 ...

Abstract	We analyze the impact of a proposed tidal instability coupling p modes and g modes within neutron stars on GW170817. This nonresonant instability transfers energy from the orbit of the binary to internal modes of the stars, accelerating the gravitational-wave driven inspiral. We model the impact of this instability on the phasing of the gravitational wave signal using three parameters per star: an overall amplitude, a saturation frequency, and a spectral index. Incorporating these additional parameters, we compute the Bayes factor (lnB_{!pg}^{pg}) comparing our p-g model to a standard one. We find that the observed signal is consistent with waveform models that neglect p-g effects, with lnB_{!pg}^{pg}=0.03_{-0.58}^{+0.70} (maximum a posteriori and 90% credible region). By injecting simulated signals that do not include p-g effects and recovering them with the p-g model, we show that there is a ≃50% probability of obtaining similar lnB_{!pg}^{pg} even when p-g effects are absent. We find that the p-g amplitude for 1.4 M_{⊙} neutron stars is constrained to less than a few tenths of the theoretical maximum, with maxima a posteriori near one-tenth this maximum and p-g saturation frequency ∼70 Hz. This suggests that there are less than a few hundred excited modes, assuming they all saturate by wave breaking. For comparison, theoretical upper bounds suggest ≲10^{3} modes saturate by wave breaking. Thus, the measured constraints only rule out extreme values of the p-g parameters. They also imply that the instability dissipates ≲10^{51} erg over the entire inspiral, i.e., less than a few percent of the energy radiated as gravitational waves.
Language	English
Publishing date	2019-03-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	208853-8
ISSN	1079-7114 ; 0031-9007
ISSN (online)	1079-7114
ISSN	0031-9007
DOI	10.1103/PhysRevLett.122.061104
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Article: Serological proteome analysis identifies crustacean myosin heavy chain type 1 protein and house dust mite Der p 14 as cross-reacting allergens.

Conti, Antonio / Alqassir, Noor / Breda, Daniela / Zanardi, Alan / Alessio, Massimo / Burastero, Samuele E

Advances in clinical and experimental medicine : official organ Wroclaw Medical University

2023 Volume 32, Issue 1, Page(s) 107–112

Abstract: ... group 1 and 2 allergens, Der p 23 and tropomyosin).: Material and methods: In order to identify ... as controls.: Results: Der p 14 and myosin heavy chain type 1 (MHC1) were identified as the components ... respectively. The MHC1 protein shows about 30% sequence identity with Der p 14 in specific domains, and cross ...

Abstract	Background: Allergies to house dust mite (HDM) and to crustaceans are clinically and pathogenically linked. Several homologous allergenic proteins have been identified, among which tropomyosin is the prototype, expressing epitopes endowed with variable levels of immunoglobulin E (IgE) cross-reactivity. Component-resolved diagnosis (CRD) does not allow a thorough characterization of all relevant IgE reactivities to these allergen sources. Objectives: We studied 1 patient allergic to shrimp with positive skin prick test to HDM and negative scores for IgE to HDM allergen components routinely used in CRD (group 1 and 2 allergens, Der p 23 and tropomyosin). Material and methods: In order to identify the allergen(s) involved in IgE reactivity, we used serological proteome analysis (SERPA), which utilizes two-dimensional gel electrophoresis (2DE), immunoblotting and mass spectrometry (MS). The identified allergenic proteins were tested with sera from 20 crustacean-allergic patients and 19 grass-allergic patients serving as controls. Results: Der p 14 and myosin heavy chain type 1 (MHC1) were identified as the components recognized by patient's IgE in the proteome of Dermatophagoides pteronyssinus and Penaeus monodon, respectively. The MHC1 protein shows about 30% sequence identity with Der p 14 in specific domains, and cross-reactivity against epitopes shared by the 2 proteins was demonstrated by reduced reactivity to shrimp extract following pre-incubation with Der p 14. Serum IgE from 5 out of 20 patients allergic to crustaceans reacted with MHC1, compared to none among 19 controls (p < 0.05). Conclusion: We identified MHC1 as a relevant allergic component in the proteome of Penaeus monodon, the prototypic allergen source used in diagnosis of allergy to crustaceans. Our data demonstrate MHC1 cross-reactivity between MHC1 and Der p 14 from Dermatophagoides pteronyssinus.
MeSH term(s)	Animals ; Humans ; Allergens ; Epitopes/chemistry ; Hypersensitivity ; Immunoglobulin E ; Myosin Heavy Chains ; Proteome ; Pyroglyphidae ; Tropomyosin/chemistry ; Shellfish Hypersensitivity ; Cross Reactions
Chemical Substances	Allergens ; Epitopes ; Immunoglobulin E (37341-29-0) ; Myosin Heavy Chains (EC 3.6.4.1) ; Proteome ; Tropomyosin
Language	English
Publishing date	2023-01-07
Publishing country	Poland
Document type	Journal Article
ZDB-ID	2270257-X
ISSN	1899-5276 ; 1230-025X
ISSN	1899-5276 ; 1230-025X
DOI	10.17219/acem/158773
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Article ; Online: CFTR Modulators Rescue the Activity of CFTR in Colonoids Expressing the Complex Allele p.[R74W;V201M;D1270N]/dele22_24

Karina Kleinfelder / Elena Somenza / Alessia Farinazzo / Jessica Conti / Virginia Lotti / Roberta Valeria Latorre / Luca Rodella / Arianna Massella / Francesco Tomba / Marina Bertini / Claudio Sorio / Paola Melotti

International Journal of Molecular Sciences, Vol 24, Iss 5199, p

2023 Volume 5199

Abstract: An Italian, 46-year-old female patient carrying the complex allele p.[R74W;V201M;D1270N] in trans ...

Abstract	An Italian, 46-year-old female patient carrying the complex allele p.[R74W;V201M;D1270N] in trans with CFTR dele22_24 was diagnosed at the Cystic Fibrosis (CF) Center of Verona as being affected by CF-pancreatic sufficient (CF-PS) in 2021. The variant V201M has unknown significance, while both of the other variants of this complex allele have variable clinical consequences, according to the CFTR2 database, with reported clinical benefits for treatment with ivacaftor + tezacaftor and ivacaftor + tezacaftor + elexacaftor in patients carrying the R74W-D1270N complex allele, which are currently approved (in USA, not yet in Italy). She was previously followed up by pneumologists in northern Italy because of frequent bronchitis, hemoptysis, recurrent rhinitis, Pseudomonas aeruginosa lung colonization, bronchiectasis/atelectasis, bronchial arterial embolization and moderately compromised lung function (FEV1: 62%). Following a sweat test with borderline results, she was referred to the Verona CF Center where she presented abnormal values in both optical beta-adrenergic sweat tests and intestinal current measurement (ICM). These results were consistent with a diagnosis of CF. CFTR function analyses were also performed in vitro by forskolin-induced swelling (FIS) assay and short-circuit currents (Isc) in the monolayers of the rectal organoids. Both of these assays showed significantly increased CFTR activity following treatment with the CFTR modulators. Western-blot analysis revealed increased fully glycosylated CFTR protein after treatment with correctors, in line with the functional analysis. Interestingly, tezacaftor, together with elexacaftor, rescued the total organoid area under steady-state conditions, even in the absence of the CFTR agonist forskolin. In conclusion, in ex vivo and in vitro assays, we measured a residual function that was significantly enhanced by in vitro incubation with CFTR modulators, especially by ivacaftor + tezacaftor + elexacaftor, suggesting this combination as a potentially optimal ...
Keywords	rectal organoids ; complex CFTR alleles ; personalized medicine ; CFTR modulators ; Ussing chambers ; FIS assay ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
Language	English
Publishing date	2023-03-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
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Article ; Online: Optimised Synthesis of the Bacterial Magic Spot (p)ppGpp Chemosensor PyDPA.

Conti, Gabriele / Minneci, Marco / Sattin, Sara

Chembiochem : a European journal of chemical biology

2019 Volume 20, Issue 13, Page(s) 1717–1721

Abstract: ... phenotype. A specifically tailored fluorescent chemosensor, PyDPA, allows the detection of (p)ppGpp ... robustness of this approach will allow groups investigating the many facets of (p)ppGpp easy access ...

Abstract	Guanosine penta- or tetraphosphate (pppGpp or ppGpp, respectively) is a nucleotide signalling molecule with a marked effect on bacterial physiology during stress. Its accumulation slows down cell metabolism and replication, supposedly leading to the formation of the antibiotic-tolerant persister phenotype. A specifically tailored fluorescent chemosensor, PyDPA, allows the detection of (p)ppGpp in solution with high selectivity, relative to that of other nucleotides. Herein, an optimised synthetic approach is presented that improves the overall yield from 9 to 67 % over 7 steps. The simplicity and robustness of this approach will allow groups investigating the many facets of (p)ppGpp easy access to this probe.
MeSH term(s)	Coordination Complexes/chemical synthesis ; Fluorescence ; Fluorescent Dyes/chemical synthesis ; Guanosine Pentaphosphate/analysis ; Guanosine Pentaphosphate/chemistry ; Guanosine Tetraphosphate/analysis ; Guanosine Tetraphosphate/chemistry ; Pyrenes/chemical synthesis ; Zinc/chemistry
Chemical Substances	Coordination Complexes ; Fluorescent Dyes ; Pyrenes ; Guanosine Tetraphosphate (33503-72-9) ; Guanosine Pentaphosphate (38918-96-6) ; Zinc (J41CSQ7QDS)
Language	English
Publishing date	2019-05-24
Publishing country	Germany
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2020469-3
ISSN	1439-7633 ; 1439-4227
ISSN (online)	1439-7633
ISSN	1439-4227
DOI	10.1002/cbic.201900013
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Article: IgE reactivity to house dust mite allergen components in sensitized asymptomatic subjects: a role for Der p 20.

Conti, A / Burastero, G J / Hales, B J / Breda, D / Alessio, M / Burastero, S E

Journal of biological regulators and homeostatic agents

2021 Volume 35, Issue 2, Page(s) 669–676

MeSH term(s)	Allergens ; Animals ; Antigens, Dermatophagoides ; Humans ; Immunoglobulin E ; Pyroglyphidae
Chemical Substances	Allergens ; Antigens, Dermatophagoides ; Immunoglobulin E (37341-29-0)
Language	English
Publishing date	2021-04-14
Publishing country	Italy
Document type	Letter
ZDB-ID	639196-5
ISSN	1724-6083 ; 0393-974X
ISSN (online)	1724-6083
ISSN	0393-974X
DOI	10.23812/21-07-L
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Article ; Online: Regulation of P-glycoprotein and Breast Cancer Resistance Protein Expression Induced by Focused Ultrasound-Mediated Blood-Brain Barrier Disruption: A Pilot Study.

Conti, Allegra / Geffroy, Francoise / Kamimura, Hermes A S / Novell, Anthony / Tournier, Nicolas / Mériaux, Sébastien / Larrat, Benoit

International journal of molecular sciences

2022 Volume 23, Issue 24

Abstract: ... such as P-glycoprotein (P-gp) and breast cancer resistance protein (BCRP), which limit the passage ... acoustic pressures on both P-gp and BCRP expression for up to two weeks after sonication. Magnetic resonance-guided ... FUS was applied in the striatum of 12 rats. P-gp and BCRP expression were determined ...

Abstract	The blood-brain barrier (BBB) controls brain homeostasis; it is formed by vascular endothelial cells that are physically connected by tight junctions (TJs). The BBB expresses efflux transporters such as P-glycoprotein (P-gp) and breast cancer resistance protein (BCRP), which limit the passage of substrate molecules from blood circulation to the brain. Focused ultrasound (FUS) with microbubbles can create a local and reversible detachment of the TJs. However, very little is known about the effect of FUS on the expression of efflux transporters. We investigated the in vivo effects of moderate acoustic pressures on both P-gp and BCRP expression for up to two weeks after sonication. Magnetic resonance-guided FUS was applied in the striatum of 12 rats. P-gp and BCRP expression were determined by immunohistochemistry at 1, 3, 7, and 14 days postFUS. Our results indicate that FUS-induced BBB opening is capable of (i) decreasing P-gp expression up to 3 days after sonication in both the treated and in the contralateral brain regions and is capable of (ii) overexpressing BCRP up to 7 days after FUS in the sonicated regions only. Our findings may help improve FUS-aided drug delivery strategies by considering both the mechanical effect on the TJs and the regulation of P-gp and BCRP.
Language	English
Publishing date	2022-12-07
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms232415488
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Article ; Online: Azimuthal Anisotropy of Heavy-Flavor Decay Electrons in p-Pb Collisions at sqrt[s_{NN}]=5.02 TeV.

Acharya, S / Adamová, D / Adolfsson, J / Aggarwal, M M / Aglieri Rinella, G / Agnello, M / Agrawal, N / Ahammed, Z / Ahn, S U / Aiola, S / Akindinov, A / Al-Turany, M / Alam, S N / Albuquerque, D S D / Aleksandrov, D / Alessandro, B / Alfaro Molina, R / Ali, Y / Alici, A /

Alkin, A / Alme, J / Alt, T / Altenkamper, L / Altsybeev, I / Anaam, M N / Andrei, C / Andreou, D / Andrews, H A / Andronic, A / Angeletti, M / Anguelov, V / Anson, C / Antičić, T / Antinori, F / Antonioli, P / Anwar, R / Apadula, N / Aphecetche, L / Appelshäuser, H / Arcelli, S / Arnaldi, R / Arnold, O W / Arsene, I C / Arslandok, M / Augustinus, A / Averbeck, R / Azmi, M D / Badalà, A / Baek, Y W / Bagnasco, S / Bailhache, R / Bala, R / Baldisseri, A / Ball, M / Baral, R C / Barbano, A M / Barbera, R / Barile, F / Barioglio, L / Barnaföldi, G G / Barnby, L S / Barret, V / Bartalini, P / Barth, K / Bartsch, E / Bastid, N / Basu, S / Batigne, G / Batyunya, B / Batzing, P C / Bazo Alba, J L / Bearden, I G / Beck, H / Bedda, C / Behera, N K / Belikov, I / Bellini, F / Bello Martinez, H / Bellwied, R / Beltran, L G E / Belyaev, V / Bencedi, G / Beole, S / Bercuci, A / Berdnikov, Y / Berenyi, D / Bertens, R A / Berzano, D / Betev, L / Bhaduri, P P / Bhasin, A / Bhat, I R / Bhatt, H / Bhattacharjee, B / Bhom, J / Bianchi, A / Bianchi, L / Bianchi, N / Bielčík, J / Bielčíková, J / Bilandzic, A / Biro, G / Biswas, R / Biswas, S / Blair, J T / Blau, D / Blume, C / Boca, G / Bock, F / Bogdanov, A / Boldizsár, L / Bombara, M / Bonomi, G / Bonora, M / Borel, H / Borissov, A / Borri, M / Botta, E / Bourjau, C / Bratrud, L / Braun-Munzinger, P / Bregant, M / Broker, T A / Broz, M / Brucken, E J / Bruna, E / Bruno, G E / Budnikov, D / Buesching, H / Bufalino, S / Buhler, P / Buncic, P / Busch, O / Buthelezi, Z / Butt, J B / Buxton, J T / Cabala, J / Caffarri, D / Caines, H / Caliva, A / Calvo Villar, E / Camacho, R S / Camerini, P / Capon, A A / Carena, F / Carena, W / Carnesecchi, F / Castillo Castellanos, J / Castro, A J / Casula, E A R / Ceballos Sanchez, C / Chandra, S / Chang, B / Chang, W / Chapeland, S / Chartier, M / Chattopadhyay, S / Chauvin, A / Cheshkov, C / Cheynis, B / Chibante Barroso, V / Chinellato, D D / Cho, S / Chochula, P / Chowdhury, T / Christakoglou, P / Christensen, C H / Christiansen, P / Chujo, T / Chung, S U / Cicalo, C / Cifarelli, L / Cindolo, F / Cleymans, J / Colamaria, F / Colella, D / Collu, A / Colocci, M / Concas, M / Conesa Balbastre, G / Conesa Del Valle, Z / Contreras, J G / Cormier, T M / Corrales Morales, Y / Cortese, P / Cosentino, M R / Costa, F / Costanza, S / Crkovská, J / Crochet, P / Cuautle, E / Cunqueiro, L / Dahms, T / Dainese, A / Dani, S / Danisch, M C / Danu, A / Das, D / Das, I / Das, S / Dash, A / Dash, S / De, S / De Caro, A / de Cataldo, G / de Conti, C / de Cuveland, J / De Falco, A / De Gruttola, D / De Marco, N / De Pasquale, S / De Souza, R D / Degenhardt, H F / Deisting, A / Deloff, A / Delsanto, S / Deplano, C / Dhankher, P / Di Bari, D / Di Mauro, A / Di Ruzza, B / Diaz, R A / Dietel, T / Dillenseger, P / Ding, Y / Divià, R / Djuvsland, Ø / Dobrin, A / Domenicis Gimenez, D / Dönigus, B / Dordic, O / Doremalen, L V R / Dubey, A K / Dubla, A / Ducroux, L / Dudi, S / Duggal, A K / Dukhishyam, M / Dupieux, P / Ehlers, R J / Elia, D / Endress, E / Engel, H / Epple, E / Erazmus, B / Erhardt, F / Ersdal, M R / Espagnon, B / Eulisse, G / Eum, J / Evans, D / Evdokimov, S / Fabbietti, L / Faggin, M / Faivre, J / Fantoni, A / Fasel, M / Feldkamp, L / Feliciello, A / Feofilov, G / Fernández Téllez, A / Ferretti, A / Festanti, A / Feuillard, V J G / Figiel, J / Figueredo, M A S / Filchagin, S / Finogeev, D / Fionda, F M / Fiorenza, G / Flor, F / Floris, M / Foertsch, S / Foka, P / Fokin, S / Fragiacomo, E / Francescon, A / Francisco, A / Frankenfeld, U / Fronze, G G / Fuchs, U / Furget, C / Furs, A / Fusco Girard, M / Gaardhøje, J J / Gagliardi, M / Gago, A M / Gajdosova, K / Gallio, M / Galvan, C D / Ganoti, P / Garabatos, C / Garcia-Solis, E / Garg, K / Gargiulo, C / Gasik, P / Gauger, E F / Gay Ducati, M B / Germain, M / Ghosh, J / Ghosh, P / Ghosh, S K / Gianotti, P / Giubellino, P / Giubilato, P / Glässel, P / Goméz Coral, D M / Gomez Ramirez, A / Gonzalez, V / González-Zamora, P / Gorbunov, S / Görlich, L / Gotovac, S / Grabski, V / Graczykowski, L K / Graham, K L / Greiner, L / Grelli, A / Grigoras, C / Grigoriev, V / Grigoryan, A / Grigoryan, S / Gronefeld, J M / Grosa, F / Grosse-Oetringhaus, J F / Grosso, R / Guernane, R / Guerzoni, B / Guittiere, M / Gulbrandsen, K / Gunji, T / Gupta, A / Gupta, R / Guzman, I B / Haake, R / Habib, M K / Hadjidakis, C / Hamagaki, H / Hamar, G / Hamid, M / Hamon, J C / Hannigan, R / Haque, M R / Harlenderova, A / Harris, J W / Harton, A / Hassan, H / Hatzifotiadou, D / Hayashi, S / Heckel, S T / Hellbär, E / Helstrup, H / Herghelegiu, A / Hernandez, E G / Herrera Corral, G / Herrmann, F / Hetland, K F / Hilden, T E / Hillemanns, H / Hills, C / Hippolyte, B / Hohlweger, B / Horak, D / Hornung, S / Hosokawa, R / Hota, J / Hristov, P / Huang, C / Hughes, C / Huhn, P / Humanic, T J / Hushnud, H / Hussain, N / Hussain, T / Hutter, D / Hwang, D S / Iddon, J P / Iga Buitron, S A / Ilkaev, R / Inaba, M / Ippolitov, M / Islam, M S / 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/ Malik, Q W / Malinina, L / Mal'Kevich, D / Malzacher, P / Mamonov, A / Manko, V / Manso, F / Manzari, V / Mao, Y / Marchisone, M / Mareš, J / Margagliotti, G V / Margotti, A / Margutti, J / Marín, A / Markert, C / Marquard, M / Martin, N A / Martinengo, P / Martinez, J L / Martínez, M I / Martínez García, G / Martinez Pedreira, M / Masciocchi, S / Masera, M / Masoni, A / Massacrier, L / Masson, E / Mastroserio, A / Mathis, A M / Matuoka, P F T / Matyja, A / Mayer, C / Mazzilli, M / Mazzoni, M A / Meddi, F / Melikyan, Y / Menchaca-Rocha, A / Meninno, E / Mercado Pérez, J / Meres, M / Meza, C S / Mhlanga, S / Miake, Y / Micheletti, L / Mieskolainen, M M / Mihaylov, D L / Mikhaylov, K / Mischke, A / Mishra, A N / Miśkowiec, D / Mitra, J / Mitu, C M / Mohammadi, N / Mohanty, A P / Mohanty, B / Mohisin Khan, M / Moreira De Godoy, D A / Moreno, L A P / Moretto, S / Morreale, A / Morsch, A / Mrnjavac, T / Muccifora, V / Mudnic, E / Mühlheim, D / Muhuri, S / Mukherjee, M / Mulligan, J D / Munhoz, M G / Münning, K / Munoz, M I A / Munzer, R H / Murakami, H / Murray, S / Musa, L / Musinsky, J / Myers, C J / Myrcha, J W / Naik, B / Nair, R / Nandi, B K / Nania, R / Nappi, E / Narayan, A / Naru, M U / Nassirpour, A F / Natal da Luz, H / Nattrass, C / Navarro, S R / Nayak, K / Nayak, R / Nayak, T K / Nazarenko, S / Negrao De Oliveira, R A / Nellen, L / Nesbo, S V / Neskovic, G / Ng, F / Nicassio, M / Niedziela, J / Nielsen, B S / Nikolaev, S / Nikulin, S / Nikulin, V / Noferini, F / Nomokonov, P / Nooren, G / Noris, J C C / Norman, J / Nyanin, A / Nystrand, J / Oh, H / Ohlson, A / Oleniacz, J / Oliveira Da Silva, A C / Oliver, M H / Onderwaater, J / Oppedisano, C / Orava, R / Oravec, M / Ortiz Velasquez, A / Oskarsson, A / Otwinowski, J / Oyama, K / Pachmayer, Y / Pacik, V / Pagano, D / Paić, G / Palni, P / Pan, J / Pandey, A K / Panebianco, S / Papikyan, V / Pareek, P / Park, J / Parkkila, J E / Parmar, S / Passfeld, A / Pathak, S P / Patra, R N / Paul, B / Pei, H / 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Physical review letters

2019 Volume 122, Issue 7, Page(s) 72301

Abstract: ... <0.8) are measured in p-Pb collisions at sqrt[s_{NN}]=5.02 TeV. The analysis is carried out ... in the transverse momentum interval 1.5<p_{T}<4 GeV/c in high-multiplicity events, with a significance larger ...

Abstract	Angular correlations between heavy-flavor decay electrons and charged particles at midrapidity (\|η\|<0.8) are measured in p-Pb collisions at sqrt[s_{NN}]=5.02 TeV. The analysis is carried out for the 0%-20% (high) and 60%-100% (low) multiplicity ranges. The jet contribution in the correlation distribution from high-multiplicity events is removed by subtracting the distribution from low-multiplicity events. An azimuthal modulation remains after removing the jet contribution, similar to previous observations in two-particle angular correlation measurements for light-flavor hadrons. A Fourier decomposition of the modulation results in a positive second-order coefficient (v_{2}) for heavy-flavor decay electrons in the transverse momentum interval 1.5<p_{T}<4 GeV/c in high-multiplicity events, with a significance larger than 5σ. The results are compared with those of charged particles at midrapidity and those of inclusive muons at forward rapidity. The v_{2} measurement of open heavy-flavor particles at midrapidity in small collision systems could provide crucial information to help interpret the anisotropies observed in such systems.
Language	English
Publishing date	2019-03-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	208853-8
ISSN	1079-7114 ; 0031-9007
ISSN (online)	1079-7114
ISSN	0031-9007
DOI	10.1103/PhysRevLett.122.072301
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Article ; Online: Substance P and IL-33 administered together stimulate a marked secretion of IL-1β from human mast cells, inhibited by methoxyluteolin.

Taracanova, Alexandra / Tsilioni, Irene / Conti, Pio / Norwitz, Errol R / Leeman, Susan E / Theoharides, Theoharis C

Proceedings of the National Academy of Sciences of the United States of America

2018 Volume 115, Issue 40, Page(s) E9381–E9390

Abstract: Mast cells are critical for allergic and inflammatory responses in which the peptide substance P ...

Abstract	Mast cells are critical for allergic and inflammatory responses in which the peptide substance P (SP) and the cytokine IL-33 are involved. SP (0.01-1 μM) administered together with IL-33 (30 ng/mL) to human cultured LAD2 mast cells stimulates a marked increase (
MeSH term(s)	Biphenyl Compounds/pharmacology ; Caspase 1/metabolism ; Cell Line, Tumor ; Humans ; Interleukin-1beta/metabolism ; Interleukin-33/pharmacology ; Luteolin/pharmacology ; Mast Cells/cytology ; Mast Cells/metabolism ; Piperidines/pharmacology ; Substance P/pharmacology
Chemical Substances	Biphenyl Compounds ; IL1B protein, human ; IL33 protein, human ; Interleukin-1beta ; Interleukin-33 ; Piperidines ; methoxyluteolin ; 3-((3,5-bis(trifluoromethyl)phenyl)methyloxy)-2-phenylpiperidine (148700-85-0) ; Substance P (33507-63-0) ; Caspase 1 (EC 3.4.22.36) ; Luteolin (KUX1ZNC9J2) ; CP 96345 (W22ILA2I52)
Language	English
Publishing date	2018-09-19
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	209104-5
ISSN	1091-6490 ; 0027-8424
ISSN (online)	1091-6490
ISSN	0027-8424
DOI	10.1073/pnas.1810133115
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Article ; Online: Investigations of Anisotropic Flow Using Multiparticle Azimuthal Correlations in pp, p-Pb, Xe-Xe, and Pb-Pb Collisions at the LHC.

Acharya, S / Adamová, D / Adhya, S P / Adler, A / Adolfsson, J / Aggarwal, M M / Aglieri Rinella, G / Agnello, M / Agrawal, N / Ahammed, Z / Ahmad, S / Ahn, S U / Aiola, S / Akindinov, A / Al-Turany, M / Alam, S N / Albuquerque, D S D / Aleksandrov, D / Alessandro, B /

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Physical review letters

2019 Volume 123, Issue 14, Page(s) 142301

Abstract: ... multiparticle cumulant methods are reported in collisions of pp at sqrt[s]=13 TeV, p-Pb at a center-of-mass ... momentum range 0.2<p_{T}<3.0 GeV/c. An ordering of the coefficients v_{2}>v_{3}>v_{4} is found in pp and p ... particle cumulants in pp and p-Pb collisions. The magnitude of the correlation between v_{n}^{2} and v_{m ...

Abstract	Measurements of anisotropic flow coefficients (v_{n}) and their cross-correlations using two- and multiparticle cumulant methods are reported in collisions of pp at sqrt[s]=13 TeV, p-Pb at a center-of-mass energy per nucleon pair sqrt[s_{NN}]=5.02 TeV, Xe-Xe at sqrt[s_{NN}]=5.44 TeV, and Pb-Pb at sqrt[s_{NN}]=5.02 TeV recorded with the ALICE detector. The multiplicity dependence of v_{n} is studied in a very wide range from 20 to 3000 particles produced in the midrapidity region \|η\|<0.8 for the transverse momentum range 0.2<p_{T}<3.0 GeV/c. An ordering of the coefficients v_{2}>v_{3}>v_{4} is found in pp and p-Pb collisions, similar to that seen in large collision systems, while a weak v_{2} multiplicity dependence is observed relative to nucleus-nucleus collisions in the same multiplicity range. Using a novel subevent method, v_{2} measured with four-particle cumulants is found to be compatible with that from six-particle cumulants in pp and p-Pb collisions. The magnitude of the correlation between v_{n}^{2} and v_{m}^{2}, evaluated with the symmetric cumulants SC(m,n) is observed to be positive at all multiplicities for v_{2} and v_{4}, while for v_{2} and v_{3} it is negative and changes sign for multiplicities below 100, which may indicate a different v_{n} fluctuation pattern in this multiplicity range. The observed long-range multiparticle azimuthal correlations in high multiplicity pp and p-Pb collisions can neither be described by pythia 8 nor by impact-parameter-Glasma, music, and ultrarelativistic quantum molecular dynamics model calculations, and hence, provide new insights into the understanding of collective effects in small collision systems.
Language	English
Publishing date	2019-11-04
Publishing country	United States
Document type	Journal Article
ZDB-ID	208853-8
ISSN	1079-7114 ; 0031-9007
ISSN (online)	1079-7114
ISSN	0031-9007
DOI	10.1103/PhysRevLett.123.142301
Database	MEDical Literature Analysis and Retrieval System OnLINE

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