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  1. Article ; Online: Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A.

    Peron, Camille / Cavaliere, Andrea / Fasano, Chiara / Iannielli, Angelo / Spagnolo, Manuela / Legati, Andrea / Nicol Colombo, Maria / Rizzo, Ambra / Sciacca, Francesca L / Carelli, Valerio / Broccoli, Vania / Lamperti, Costanza / Tiranti, Valeria

    Stem cell research

    2024  Volume 77, Page(s) 103406

    Abstract: ... with key mutations being m.3460G > A, m.11778G > A, and m.14484 T > C. Fibroblasts from identical twins ... sharing m.14484 T > C and m.10680G > A variants each with 70 % heteroplasmy, were used to generate iPSC ... unravelling the role of m.10680G > A, which is still debated. ...

    Abstract Leber hereditary optic neuropathy (LHON) is one of the most common mitochondrial illness, causing retinal ganglion cell degeneration and central vision loss. It stems from point mutations in mitochondrial DNA (mtDNA), with key mutations being m.3460G > A, m.11778G > A, and m.14484 T > C. Fibroblasts from identical twins, sharing m.14484 T > C and m.10680G > A variants each with 70 % heteroplasmy, were used to generate iPSC lines. Remarkably, one twin, a LHON patient, displayed symptoms, while the other, a carrier, remained asymptomatic. These iPSCs offer a valuable tool for studying factors influencing disease penetrance and unravelling the role of m.10680G > A, which is still debated.
    Language English
    Publishing date 2024-03-24
    Publishing country England
    Document type Journal Article
    ZDB-ID 2393143-7
    ISSN 1876-7753 ; 1873-5061
    ISSN (online) 1876-7753
    ISSN 1873-5061
    DOI 10.1016/j.scr.2024.103406
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: The D.A.M.A. Project at Terni Hospital, Italy.

    Frondizi, Domenico / Cappanera, Stefano / Commissari, Rita / Francucci, Marsilio / Rizzo, Massimo / Perugini, Donatella / Angeli, Lorella / Elisei, Sandro

    Psychiatria Danubina

    2021  Volume 33, Issue Suppl 11, Page(s) 91–95

    Abstract: Experience shows how difficult it is for a person with disabilities to cope with the reality of a hospital, especially if he or she has an intellectual disability. The difficulty in carrying out even simple diagnostic and therapeutic manoeuvres, the ... ...

    Abstract Experience shows how difficult it is for a person with disabilities to cope with the reality of a hospital, especially if he or she has an intellectual disability. The difficulty in carrying out even simple diagnostic and therapeutic manoeuvres, the complexity of the pathologies, the difficulty in relating to the patient all make it a real risk that many medical problems of patients with disabilities are overlooked or denied altogether. The person with a disability has the right to all care, not only that related to his or her particular pathology, but also that required for other specialist or general pathologies. The UN Convention clearly states the rights of persons with disabilities. The Italian Republic has implemented the UN's declaration with Law 18/2009. The rights enshrined in Article 25 of the UN Convention are also concretely applied in the European Charter of Patients' Rights. The right of people with disabilities to be treated on an equal and non-discriminatory basis is also recalled by His Holiness Pope Francis in his latest encyclical. The DAMA (Disabled Advanced Medical Assistance) Hospital project was created to guarantee the right to health and care of people with disabilities, always, by remodelling its diagnostic and care procedures. The CAD/DAMA Service of the Terni Hospital since 2018 has adopted the DAMA project and also since 2018 has been collaborating with the Seraficio Institute of Assisi. The aim of the CAD/DAMA Service is also to promote and implement research in this area of care and training for healthcare professionals on disability and related issues.
    MeSH term(s) Disabled Persons ; Female ; Hospitals ; Humans ; Intellectual Disability/epidemiology ; Intellectual Disability/therapy ; Italy
    Language English
    Publishing date 2021-12-04
    Publishing country Croatia
    Document type Journal Article
    ZDB-ID 1067580-2
    ISSN 0353-5053
    ISSN 0353-5053
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: GW190521: A Binary Black Hole Merger with a Total Mass of 150  M_{⊙}.

    Abbott, R / Abbott, T D / Abraham, S / Acernese, F / Ackley, K / Adams, C / Adhikari, R X / Adya, V B / Affeldt, C / Agathos, M / Agatsuma, K / Aggarwal, N / Aguiar, O D / Aich, A / Aiello, L / Ain, A / Ajith, P / Akcay, S / Allen, G /
    Allocca, A / Altin, P A / Amato, A / Anand, S / Ananyeva, A / Anderson, S B / Anderson, W G / Angelova, S V / Ansoldi, S / Antier, S / Appert, S / Arai, K / Araya, M C / Areeda, J S / Arène, M / Arnaud, N / Aronson, S M / Arun, K G / Asali, Y / Ascenzi, S / Ashton, G / Aston, S M / Astone, P / Aubin, F / Aufmuth, P / AultONeal, K / Austin, C / Avendano, V / Babak, S / Bacon, P / Badaracco, F / Bader, M K M / Bae, S / Baer, A M / Baird, J / Baldaccini, F / Ballardin, G / Ballmer, S W / Bals, A / Balsamo, A / Baltus, G / Banagiri, S / Bankar, D / Bankar, R S / Barayoga, J C / Barbieri, C / Barish, B C / Barker, D / Barkett, K / Barneo, P / Barone, F / Barr, B / Barsotti, L / Barsuglia, M / Barta, D / Bartlett, J / Bartos, I / Bassiri, R / Basti, A / Bawaj, M / Bayley, J C / Bazzan, M / Bécsy, B / Bejger, M / Belahcene, I / Bell, A S / Beniwal, D / Benjamin, M G / Bentley, J D / Bergamin, F / Berger, B K / Bergmann, G / Bernuzzi, S / Berry, C P L / Bersanetti, D / Bertolini, A / Betzwieser, J / Bhandare, R / Bhandari, A V / Bidler, J / Biggs, E / Bilenko, I A / Billingsley, G / Birney, R / Birnholtz, O / Biscans, S / Bischi, M / Biscoveanu, S / Bisht, A / Bissenbayeva, G / Bitossi, M / Bizouard, M A / Blackburn, J K / Blackman, J / Blair, C D / Blair, D G / Blair, R M / Bobba, F / Bode, N / Boer, M / Boetzel, Y / Bogaert, G / Bondu, F / Bonilla, E / Bonnand, R / Booker, P / Boom, B A / Bork, R / Boschi, V / Bose, S / Bossilkov, V / Bosveld, J / Bouffanais, Y / Bozzi, A / Bradaschia, C / Brady, P R / Bramley, A / Branchesi, M / Brau, J E / Breschi, M / Briant, T / Briggs, J H / Brighenti, F / Brillet, A / Brinkmann, M / Brockill, P / Brooks, A F / Brooks, J / Brown, D D / Brunett, S / Bruno, G / Bruntz, R / Buikema, A / Bulik, T / Bulten, H J / Buonanno, A / Buscicchio, R / Buskulic, D / Byer, R L / Cabero, M / Cadonati, L / Cagnoli, G / Cahillane, C / Calderón Bustillo, J / Callaghan, J D / Callister, T A / Calloni, E / Camp, J B / Canepa, M / Cannon, K C / Cao, H / Cao, J / Carapella, G / Carbognani, F / Caride, S / Carney, M F / Carullo, G / Casanueva Diaz, J / Casentini, C / Castañeda, J / Caudill, S / Cavaglià, M / Cavalier, F / Cavalieri, R / Cella, G / Cerdá-Durán, P / Cesarini, E / Chaibi, O / Chakravarti, K / Chan, C / Chan, M / Chandra, K / Chao, S / Charlton, P / Chase, E A / Chassande-Mottin, E / Chatterjee, D / Chaturvedi, M / Chatziioannou, K / Chen, H Y / Chen, X / Chen, Y / Cheng, H-P / Cheong, C K / Chia, H Y / Chiadini, F / Chierici, R / Chincarini, A / Chiummo, A / Cho, G / Cho, H S / Cho, M / Christensen, N / Chu, Q / Chua, S / Chung, K W / Chung, S / Ciani, G / Ciecielag, P / Cieślar, M / Ciobanu, A A / Ciolfi, R / Cipriano, F / Cirone, A / Clara, F / Clark, J A / Clearwater, P / Clesse, S / Cleva, F / Coccia, E / Cohadon, P-F / Cohen, D / Colleoni, M / Collette, C G / Collins, C / Colpi, M / Constancio, M / Conti, L / Cooper, S J / Corban, P / Corbitt, T R / Cordero-Carrión, I / Corezzi, S / Corley, K R / Cornish, N / Corre, D / 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 / Coward, D M / Cowart, M J / Coyne, D C / Coyne, R / Creighton, J D E / Creighton, T D / Cripe, J / Croquette, M / Crowder, S G / Cudell, J-R / Cullen, T J / Cumming, A / Cummings, R / Cunningham, L / Cuoco, E / Curylo, M / Canton, T Dal / Dálya, G / Dana, A / Daneshgaran-Bajastani, L M / D'Angelo, B / Danilishin, S L / D'Antonio, S / Danzmann, K / Darsow-Fromm, C / Dasgupta, A / Datrier, L E H / Dattilo, V / Dave, I / Davier, M / Davies, G S / Davis, D / Daw, E J / DeBra, D / Deenadayalan, M / Degallaix, J / De Laurentis, M / Deléglise, S / Delfavero, M / De Lillo, N / Del Pozzo, W / DeMarchi, L M / D'Emilio, V / Demos, N / Dent, T / De Pietri, R / De Rosa, R / De Rossi, C / DeSalvo, R / de Varona, O / Dhurandhar, S / Díaz, M C / Diaz-Ortiz, M / Dietrich, T / Di Fiore, L / Di Fronzo, C / Di Giorgio, C / Di Giovanni, F / Di Giovanni, M / Di Girolamo, T / Di Lieto, A / Ding, B / Di Pace, S / Di Palma, I / Di Renzo, F / Divakarla, A K / Dmitriev, A / Doctor, Z / Donovan, F / Dooley, K L / Doravari, S / Dorrington, I / Downes, T P / Drago, M / Driggers, J C / Du, Z / Ducoin, J-G / Dupej, P / Durante, O / D'Urso, D / Dwyer, S E / Easter, P J / Eddolls, G / Edelman, B / Edo, T B / Edy, O / Effler, A / Ehrens, P / Eichholz, J / Eikenberry, S S / Eisenmann, M / Eisenstein, R A / Ejlli, A / Errico, L / Essick, R C / Estelles, H / Estevez, D / Etienne, Z B / Etzel, T / Evans, M / Evans, T M / Ewing, B E / Fafone, V / Fairhurst, S / Fan, X / Farinon, S / Farr, B / Farr, W M / Fauchon-Jones, E J / Favata, M / Fays, M / Fazio, M / Feicht, J / Fejer, M M / Feng, F / Fenyvesi, E / Ferguson, D L / Fernandez-Galiana, A / Ferrante, I / Ferreira, E C / Ferreira, T A / Fidecaro, F / Fiori, I / Fiorucci, D / Fishbach, M / Fisher, R P / Fittipaldi, R / Fitz-Axen, M / Fiumara, V / Flaminio, R / Floden, E / Flynn, E / Fong, H / Font, J A / Forsyth, P W F / Fournier, J-D / Frasca, S / Frasconi, F / Frei, Z / Freise, A / Frey, R / Frey, V / Fritschel, P / Frolov, V V / Fronzè, G / Fulda, P / Fyffe, M / Gabbard, H A / Gadre, B U / Gaebel, S M / Gair, J R / Galaudage, S / Ganapathy, D / Ganguly, A / Gaonkar, S G / García-Quirós, C / Garufi, F / Gateley, B / Gaudio, S / Gayathri, V / Gemme, G / Genin, E / Gennai, A / George, D / George, J / Gergely, L / Ghonge, S / Ghosh, Abhirup / Ghosh, Archisman / Ghosh, S / Giacomazzo, B / Giaime, J A / Giardina, K D / Gibson, D R / Gier, C / Gill, K / Glanzer, J / Gniesmer, J / Godwin, P / Goetz, E / Goetz, R / Gohlke, N / Goncharov, B / González, G / Gopakumar, A / Gossan, S E / Gosselin, M / Gouaty, R / Grace, B / Grado, A / Granata, M / Grant, A / Gras, S / Grassia, P / Gray, C / Gray, R / Greco, G / Green, A C / Green, R / Gretarsson, E M / Griggs, H L / Grignani, G / Grimaldi, A / Grimm, S J / Grote, H / Grunewald, S / Gruning, P / Guidi, G M / Guimaraes, A R / Guixé, G / Gulati, H K / Guo, Y / Gupta, A / Gupta, Anchal / Gupta, P / Gustafson, E K / Gustafson, R / Haegel, L / Halim, O / Hall, E D / Hamilton, E Z / Hammond, G / Haney, M / Hanke, M M / Hanks, J / Hanna, C / Hannam, M D / Hannuksela, O A / Hansen, T J / Hanson, J / Harder, T / Hardwick, T / Haris, K / Harms, J / Harry, G M / Harry, I W / Hasskew, R K / Haster, C-J / Haughian, K / Hayes, F J / Healy, J / Heidmann, A / Heintze, M C / Heinze, J / Heitmann, H / Hellman, F / Hello, P / Hemming, G / Hendry, M / Heng, I S / Hennes, E / Hennig, J / Heurs, M / Hild, S / Hinderer, T / Hoback, S Y / Hochheim, S / Hofgard, E / Hofman, D / Holgado, A M / Holland, N A / Holt, K / Holz, D E / Hopkins, P / Horst, C / Hough, J / Howell, E J / Hoy, C G / Huang, Y / Hübner, M T / Huerta, E A / Huet, D / Hughey, B / Hui, V / Husa, S / Huttner, S H / Huxford, R / Huynh-Dinh, T / Idzkowski, B / Iess, A / Inchauspe, H / Ingram, C / Intini, G / Isac, J-M / Isi, M / Iyer, B R / Jacqmin, T / Jadhav, S J / Jadhav, S P / James, A L / Jani, K / Janthalur, N N / Jaranowski, P / Jariwala, D / Jaume, R / Jenkins, A C / Jiang, J / Johns, G R / Johnson-McDaniel, N K / Jones, A W / Jones, D I / Jones, J D / Jones, P / 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 / Kashyap, R / Kasprzack, M / Kastaun, W / Katsanevas, S / Katsavounidis, E / Katzman, W / Kaufer, S / Kawabe, K / Kéfélian, F / Keitel, D / Keivani, A / Kennedy, R / Key, J S / Khadka, S / Khalili, F Y / Khan, I / Khan, S / Khan, Z A / Khazanov, E A / Khetan, N / Khursheed, M / Kijbunchoo, N / Kim, Chunglee / Kim, G J / Kim, J C / Kim, K / Kim, W / Kim, W S / Kim, Y-M / Kimball, C / King, P J / Kinley-Hanlon, M / Kirchhoff, R / Kissel, J S / Kleybolte, L / Klimenko, S / Knowles, T D / Knyazev, E / Koch, P / Koehlenbeck, S M / Koekoek, G / Koley, S / Kondrashov, V / Kontos, A / Koper, N / Korobko, M / Korth, W Z / Kovalam, M / Kozak, D B / Kringel, V / Krishnendu, N V / Królak, A / Krupinski, N / Kuehn, G / Kumar, A / Kumar, P / Kumar, Rahul / Kumar, Rakesh / Kumar, S / Kuo, L / Kutynia, A / Lackey, B D / Laghi, D / Lalande, E / Lam, T L / Lamberts, A / Landry, M / Lane, B B / Lang, R N / Lange, J / Lantz, B / Lanza, R K / La Rosa, I / Lartaux-Vollard, A / Lasky, P D / Laxen, M / Lazzarini, A / Lazzaro, C / Leaci, P / Leavey, S / Lecoeuche, Y K / Lee, C H / Lee, H M / Lee, H W / Lee, J / Lee, K / Lehmann, J / Leroy, N / Letendre, N / Levin, Y / Li, A K Y / Li, J / Li, K / Li, T G F / Li, X / Linde, F / Linker, S D / Linley, J N / Littenberg, T B / Liu, J / Liu, X / Llorens-Monteagudo, M / Lo, R K L / Lockwood, A / London, L T / Longo, A / Lorenzini, M / Loriette, V / Lormand, M / Losurdo, G / Lough, J D / Lousto, C O / Lovelace, G / Lück, H / Lumaca, D / Lundgren, A P / Ma, Y / Macas, R / Macfoy, S / MacInnis, M / Macleod, D M / MacMillan, I A O / Macquet, A / Magaña Hernandez, I / Magaña-Sandoval, F / Magee, R M / Majorana, E / Maksimovic, I / Malik, A / Man, N / Mandic, V / Mangano, V / Mansell, G L / Manske, M / Mantovani, M / Mapelli, M / Marchesoni, F / Marion, F / Márka, S / Márka, Z / Markakis, C / Markosyan, A S / Markowitz, A / Maros, E / Marquina, A / Marsat, S / Martelli, F / Martin, I W / Martin, R M / Martinez, V / Martynov, D V / Masalehdan, H / Mason, K / Massera, E / Masserot, A / Massinger, T J / Masso-Reid, M / Mastrogiovanni, S / Matas, A / Matichard, F / Mavalvala, N / Maynard, E / McCann, J J / McCarthy, R / McClelland, D E / McCormick, S / McCuller, L / McGuire, S C / McIsaac, C / McIver, J / McManus, D J / McRae, T / McWilliams, S T / Meacher, D / Meadors, G D / Mehmet, M / Mehta, A K / Mejuto Villa, E / Melatos, A / Mendell, G / Mercer, R A / Mereni, L / Merfeld, K / Merilh, E L / Merritt, J D / Merzougui, M / Meshkov, S / Messenger, C / Messick, C / Metzdorff, R / Meyers, P M / Meylahn, F / Mhaske, A / Miani, A / Miao, H / Michaloliakos, I / Michel, C / Middleton, H / Milano, L / Miller, A L / Millhouse, M / Mills, J C / Milotti, E / Milovich-Goff, M C / Minazzoli, O / Minenkov, Y / Mishkin, A / Mishra, C / Mistry, T / Mitra, S / Mitrofanov, V P / Mitselmakher, G / Mittleman, R / Mo, G / Mogushi, K / Mohapatra, S R P / Mohite, S R / Molina-Ruiz, M / Mondin, M / Montani, M / Moore, C J / Moraru, D / Morawski, F / Moreno, G / Morisaki, S / Mours, B / Mow-Lowry, C M / Mozzon, S / Muciaccia, F / Mukherjee, Arunava / Mukherjee, D / Mukherjee, S / Mukherjee, Subroto / Mukund, N / Mullavey, A / Munch, J / Muñiz, E A / Murray, P G / Nagar, A / Nardecchia, I / Naticchioni, L / Nayak, R K / Neil, B F / Neilson, J / Nelemans, G / Nelson, T J N / Nery, M / Neunzert, A / Ng, K Y / Ng, S / Nguyen, C / Nguyen, P / Nichols, D / Nichols, S A / Nissanke, S / Nitz, A / Nocera, F / Noh, M / North, C / Nothard, D / Nuttall, L K / Oberling, J / O'Brien, B D / Oganesyan, G / Ogin, G H / Oh, J J / Oh, S H / Ohme, F / Ohta, H / Okada, M A / Oliver, M / Olivetto, C / Oppermann, P / Oram, Richard J / O'Reilly, B / Ormiston, R G / Ortega, L F / O'Shaughnessy, R / Ossokine, S / Osthelder, C / Ottaway, D J / Overmier, H / Owen, B J / Pace, A E / Pagano, G / Page, M A / Pagliaroli, G / Pai, A / Pai, S A / Palamos, J R / Palashov, O / Palomba, C / Pan, H / Panda, P K / Pang, P T H / Pankow, C / Pannarale, F / Pant, B C / Paoletti, F / Paoli, A / Parida, A / Parker, W / Pascucci, D / Pasqualetti, A / Passaquieti, R / Passuello, D / Patricelli, B / Payne, E / Pearlstone, B L / Pechsiri, T C / Pedersen, A J / Pedraza, M / Pele, A / Penn, S / Perego, A / Perez, C J / Périgois, C / Perreca, A / Perriès, S / Petermann, J / Pfeiffer, H P / Phelps, M / Phukon, K S / Piccinni, O J / Pichot, M / Piendibene, M / Piergiovanni, F / Pierro, V / Pillant, G / Pinard, L / Pinto, I M / Piotrzkowski, K / Pirello, M / Pitkin, M / Plastino, W / Poggiani, R / Pong, D Y T / Ponrathnam, S / Popolizio, P / Porter, E K / Powell, J / Prajapati, A K / Prasai, K / Prasanna, R / Pratten, G / Prestegard, T / Principe, M / Prodi, G A / Prokhorov, L / Punturo, M / Puppo, P / Pürrer, M / Qi, H / Quetschke, V / Quinonez, P J / Raab, F J / Raaijmakers, G / Radkins, H / Radulesco, N / Raffai, P / Rafferty, H / Raja, S / Rajan, C / Rajbhandari, B / Rakhmanov, M / Ramirez, K E / Ramos-Buades, A / Rana, Javed / Rao, K / Rapagnani, P / Raymond, V / Razzano, M / Read, J / Regimbau, T / Rei, L / Reid, S / Reitze, D H / Rettegno, P / Ricci, F / Richardson, C J / Richardson, J W / Ricker, P M / Riemenschneider, G / Riles, K / Rizzo, M / Robertson, N A / Robinet, F / Rocchi, A / Rodriguez-Soto, R D / Rolland, L / Rollins, J G / Roma, V J / Romanelli, M / Romano, R / Romel, C L / Romero-Shaw, I M / Romie, J H / Rose, C A / Rose, D / Rose, K / Rosińska, D / Rosofsky, S G / Ross, M P / Rowan, S / Rowlinson, S J / Roy, P K / Roy, Santosh / Roy, Soumen / Ruggi, P / Rutins, G / Ryan, K / Sachdev, S / Sadecki, T / Sakellariadou, M / Salafia, O S / Salconi, L / Saleem, M / Salemi, F / Samajdar, A / Sanchez, E J / Sanchez, L E / Sanchis-Gual, N / Sanders, J R / Santiago, K A / Santos, E / Sarin, N / Sassolas, B / Sathyaprakash, B S / Sauter, O / Savage, R L / Savant, V / Sawant, D / Sayah, S / Schaetzl, D / Schale, P / Scheel, M / Scheuer, J / Schmidt, P / Schnabel, R / Schofield, R M S / Schönbeck, A / Schreiber, E / Schulte, B W / Schutz, B F / Schwarm, O / Schwartz, E / Scott, J / Scott, S M / Seidel, E / Sellers, D / Sengupta, A S / Sennett, N / Sentenac, D / Sequino, V / Sergeev, A / Setyawati, Y / Shaddock, D A / Shaffer, T / Sharifi, S / Shahriar, M S / Sharma, A / Sharma, P / Shawhan, P / Shen, H / Shikauchi, M / Shink, R / Shoemaker, D H / Shoemaker, D M / Shukla, K / ShyamSundar, S / Siellez, K / Sieniawska, M / Sigg, D / Singer, L P / Singh, D / Singh, N / Singha, A / Singhal, A / Sintes, A M / Sipala, V / Skliris, V / Slagmolen, B J J / Slaven-Blair, T J / Smetana, J / Smith, J R / Smith, R J E / Somala, S / Son, E J / Soni, S / Sorazu, B / Sordini, V / Sorrentino, F / Souradeep, T / Sowell, E / Spencer, A P / Spera, M / Srivastava, A K / Srivastava, V / Staats, K / Stachie, C / Standke, M / Steer, D A / Steinke, M / Steinlechner, J / Steinlechner, S / Steinmeyer, D / Stevenson, S / Stocks, D / Stops, D J / Stover, M / Strain, K A / Stratta, G / Strunk, A / Sturani, R / Stuver, A L / Sudhagar, S / Sudhir, V / Summerscales, T Z / Sun, L / Sunil, S / Sur, A / Suresh, J / Sutton, P J / Swinkels, B L / Szczepańczyk, M J / Tacca, M / Tait, S C / Talbot, C / Tanasijczuk, A J / Tanner, D B / Tao, D / Tápai, M / Tapia, A / Tapia San Martin, E N / Tasson, J D / Taylor, R / Tenorio, R / Terkowski, L / Thirugnanasambandam, M P / Thomas, M / Thomas, P / Thompson, J E / Thondapu, S R / Thorne, K A / Thrane, E / Tinsman, C L / Saravanan, T R / Tiwari, Shubhanshu / Tiwari, S / Tiwari, V / Toland, K / Tonelli, M / Tornasi, Z / Torres-Forné, A / Torrie, C I / Tosta E Melo, I / Töyrä, D / Travasso, F / Traylor, G / Tringali, M C / Tripathee, A / Trovato, A / 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    Physical review letters

    2021  Volume 125, Issue 10, Page(s) 101102

    Abstract: ... with masses of 85_{-14}^{+21}  M_{⊙} and 66_{-18}^{+17}  M_{⊙} (90% credible intervals). We infer ... with only a 0.32% probability of being below 65  M_{⊙}. We calculate the mass of the remnant to be 142_{-16 ... 28}  M_{⊙}, which can be considered an intermediate mass black hole (IMBH). The luminosity distance ...

    Abstract On May 21, 2019 at 03:02:29 UTC Advanced LIGO and Advanced Virgo observed a short duration gravitational-wave signal, GW190521, with a three-detector network signal-to-noise ratio of 14.7, and an estimated false-alarm rate of 1 in 4900 yr using a search sensitive to generic transients. If GW190521 is from a quasicircular binary inspiral, then the detected signal is consistent with the merger of two black holes with masses of 85_{-14}^{+21}  M_{⊙} and 66_{-18}^{+17}  M_{⊙} (90% credible intervals). We infer that the primary black hole mass lies within the gap produced by (pulsational) pair-instability supernova processes, with only a 0.32% probability of being below 65  M_{⊙}. We calculate the mass of the remnant to be 142_{-16}^{+28}  M_{⊙}, which can be considered an intermediate mass black hole (IMBH). The luminosity distance of the source is 5.3_{-2.6}^{+2.4}  Gpc, corresponding to a redshift of 0.82_{-0.34}^{+0.28}. The inferred rate of mergers similar to GW190521 is 0.13_{-0.11}^{+0.30}  Gpc^{-3} yr^{-1}.
    Language English
    Publishing date 2021-02-08
    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.125.101102
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Site-Specific Synthesis of Oligonucleotides Containing 6-Oxo-M

    Christov, Plamen P / Richie-Jannetta, Robyn / Kingsley, Philip J / Vemulapalli, Anoop / Kim, Kwangho / Sulikowski, Gary A / Rizzo, Carmelo J / Ketkar, Amit / Eoff, Robert L / Rouzer, Carol A / Marnett, Lawrence J

    Chemical research in toxicology

    2021  Volume 34, Issue 12, Page(s) 2567–2578

    Abstract: ... with dG to generate the exocyclic adduct, M ...

    Abstract The lipid peroxidation product malondialdehyde and the DNA peroxidation product base-propenal react with dG to generate the exocyclic adduct, M
    MeSH term(s) Chromatography, Liquid ; DNA-Directed DNA Polymerase/metabolism ; Deoxyguanosine/analogs & derivatives ; Deoxyguanosine/chemistry ; Deoxyguanosine/metabolism ; Humans ; Molecular Structure ; Oligonucleotides/chemical synthesis ; Oligonucleotides/chemistry ; Oligonucleotides/metabolism ; Tandem Mass Spectrometry ; DNA Polymerase iota
    Chemical Substances Oligonucleotides ; DNA-Directed DNA Polymerase (EC 2.7.7.7) ; Deoxyguanosine (G9481N71RO) ; DNA Polymerase iota (EC 2.7.7.7) ; POLI protein, human (EC 2.7.7.7)
    Language English
    Publishing date 2021-12-03
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 639353-6
    ISSN 1520-5010 ; 0893-228X
    ISSN (online) 1520-5010
    ISSN 0893-228X
    DOI 10.1021/acs.chemrestox.1c00334
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  5. Article ; Online: GW190814: Gravitational Waves from the Coalescence of a 23 M$_\odot$ Black Hole with a 2.6 M$_\odot$ Compact Object

    Collaboration, The LIGO Scientific / Abbott, the Virgo Collaboration R. / Abbott, T. D. / Abraham, S. / Acernese, F. / Ackley, K. / Adams, C. / Adhikari, R. X. / Adya, V. B. / Affeldt, C. / Agathos, M. / Agatsuma, K. / Aggarwal, N. / Aguiar, O. D. / Aich, A. / Aiello, L. / Ain, A. / Ajith, P. / Akcay, S. /
    Allen, G. / Allocca, A. / Altin, P. A. / Amato, A. / Anand, S. / Ananyeva, A. / Anderson, S. B. / Anderson, W. G. / Angelova, S. V. / Ansoldi, S. / Antier, S. / Appert, S. / Arai, K. / Araya, M. C. / Areeda, J. S. / Arene, M. / Arnaud, N. / Aronson, S. M. / Arun, K. G. / Asali, Y. / Ascenzi, S. / Ashton, G. / Aston, S. M. / Astone, P. / Aubin, F. / Aufmuth, P. / AultONeal, K. / Austin, C. / Avendano, V. / Babak, S. / Bacon, P. / Badaracco, F. / Bader, M. K. M. / Bae, S. / Baer, A. M. / Baird, J. / Baldaccini, F. / Ballardin, G. / Ballmer, S. W. / Bals, A. / Balsamo, A. / Baltus, G. / Banagiri, S. / Bankar, D. / Bankar, R. S. / Barayoga, J. C. / Barbieri, C. / Barish, B. C. / Barker, D. / Barkett, K. / Barneo, P. / Barone, F. / Barr, B. / Barsotti, L. / Barsuglia, M. / Barta, D. / Bartlett, J. / Bartos, I. / Bassiri, R. / Basti, A. / Bawaj, M. / Bayley, J. C. / Bazzan, M. / B'ecsy, B. / Bejger, M. / Belahcene, I. / Bell, A. S. / Beniwal, D. / Benjamin, M. G. / Benkel, R. / Bentley, J. D. / Bergamin, F. / Berger, B. K. / Bergmann, G. / Bernuzzi, S. / Berry, C. P. L. / Bersanetti, D. / Bertolini, A. / Betzwieser, J. / Bhandare, R. / Bhandari, A. V. / Bidler, J. / Biggs, E. / Bilenko, I. A. / Billingsley, G. / Birney, R. / Birnholtz, O. / Biscans, S. / Bischi, M. / Biscoveanu, S. / Bisht, A. / Bissenbayeva, G. / Bitossi, M. / Bizouard, M. A. / Blackburn, J. K. / Blackman, J. / Blair, C. D. / Blair, D. G. / Blair, R. M. / Bobba, F. / Bode, N. / Boer, M. / Boetzel, Y. / Bogaert, G. / Bondu, F. / Bonilla, E. / Bonnand, R. / Booker, P. / Boom, B. A. / Bork, R. / Boschi, V. / Bose, S. / Bossilkov, V. / Bosveld, J. / Bouffanais, Y. / Bozzi, A. / Bradaschia, C. / Brady, P. R. / Bramley, A. / Branchesi, M. / Brau, J. E. / Breschi, M. / Briant, T. / Briggs, J. H. / Brighenti, F. / Brillet, A. / Brinkmann, M. / Brito, R. / Brockill, P. / Brooks, A. F. / Brooks, J. / Brown, D. 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W. / Chung, S. / Ciani, G. / Ciecielag, P. / Cie'slar, M. / Ciobanu, A. A. / Ciolfi, R. / Cipriano, F. / Cirone, A. / Clara, F. / Clark, J. A. / Clearwater, P. / Clesse, S. / Cleva, F. / Coccia, E. / Cohadon, P.-F. / Cohen, D. / Colleoni, M. / Collette, C. G. / Collins, C. / Colpi, M. / Constancio, M. / Conti, L. / Cooper, S. J. / Corban, P. / Corbitt, T. R. / Cordero-Carri'on, I. / Corezzi, S. / Corley, K. R. / Cornish, N. / Corre, D. / 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. / Coward, D. M. / Cowart, M. J. / Coyne, D. C. / Coyne, R. / Creighton, J. D. E. / Creighton, T. D. / Cripe, J. / Croquette, M. / Crowder, S. G. / Cudell, J.-R. / Cullen, T. J. / Cumming, A. / Cummings, R. / Cunningham, L. / Cuoco, E. / Curylo, M. / Canton, T. Dal / D'alya, G. / Dana, A. / Daneshgaran-Bajastani, L. M. / D'Angelo, B. / Danilishin, S. 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B. / Edy, O. / Effler, A. / Ehrens, P. / Eichholz, J. / Eikenberry, S. S. / Eisenmann, M. / Eisenstein, R. A. / Ejlli, A. / Errico, L. / Essick, R. C. / Estelles, H. / Estevez, D. / Etienne, Z. B. / Etzel, T. / Evans, M. / Evans, T. M. / Ewing, B. E. / Fafone, V. / Fairhurst, S. / Fan, X. / Farinon, S. / Farr, B. / Farr, W. M. / Fauchon-Jones, E. J. / Favata, M. / Fays, M. / Fazio, M. / Feicht, J. / Fejer, M. M. / Feng, F. / Fenyvesi, E. / Ferguson, D. L. / Fernandez-Galiana, A. / Ferrante, I. / Ferreira, E. C. / Ferreira, T. A. / Fidecaro, F. / Fiori, I. / Fiorucci, D. / Fishbach, M. / Fisher, R. P. / Fittipaldi, R. / Fitz-Axen, M. / Fiumara, V. / Flaminio, R. / Floden, E. / Flynn, E. / Fong, H. / Font, J. A. / Forsyth, P. W. F. / Fournier, J.-D. / Frasca, S. / Frasconi, F. / Frei, Z. / Freise, A. / Frey, R. / Frey, V. / Fritschel, P. / Frolov, V. V. / Fronze, G. / Fulda, P. / Fyffe, M. / Gabbard, H. A. / Gadre, B. U. / Gaebel, S. M. / Gair, J. 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M. / Koekoek, G. / Koley, S. / Kondrashov, V. / Kontos, A. / Koper, N. / Korobko, M. / Korth, W. Z. / Kovalam, M. / Kozak, D. B. / Kringel, V. / Krishnendu, N. V. / Kr'olak, A. / Krupinski, N. / Kuehn, G. / Kumar, A. / Kumar, P. / Kumar, Rahul / Kumar, Rakesh / Kumar, S. / Kuo, L. / Kutynia, A. / Lackey, B. D. / Laghi, D. / Lalande, E. / Lam, T. L. / Lamberts, A. / Landry, M. / Landry, P. / Lane, B. B. / Lang, R. N. / Lange, J. / Lantz, B. / Lanza, R. K. / Rosa, I. La / Lartaux-Vollard, A. / Lasky, P. D. / Laxen, M. / Lazzarini, A. / Lazzaro, C. / Leaci, P. / Leavey, S. / Lecoeuche, Y. K. / Lee, C. H. / Lee, H. M. / Lee, H. W. / Lee, J. / Lee, K. / Lehmann, J. / Leroy, N. / Letendre, N. / Levin, Y. / Li, A. K. Y. / Li, J. / li, K. / Li, T. G. F. / Li, X. / Linde, F. / Linker, S. D. / Linley, J. N. / Littenberg, T. B. / Liu, J. / Liu, X. / Llorens-Monteagudo, M. / Lo, R. K. L. / Lockwood, A. / London, L. 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C. / McIsaac, C. / McIver, J. / McManus, D. J. / McRae, T. / McWilliams, S. T. / Meacher, D. / Meadors, G. D. / Mehmet, M. / Mehta, A. K. / Villa, E. Mejuto / Melatos, A. / Mendell, G. / Mercer, R. A. / Mereni, L. / Merfeld, K. / Merilh, E. L. / Merritt, J. D. / Merzougui, M. / Meshkov, S. / Messenger, C. / Messick, C. / Metzdorff, R. / Meyers, P. M. / Meylahn, F. / Mhaske, A. / Miani, A. / Miao, H. / Michaloliakos, I. / Michel, C. / Middleton, H. / Milano, L. / Miller, A. L. / Millhouse, M. / Mills, J. C. / Milotti, E. / Milovich-Goff, M. C. / Minazzoli, O. / Minenkov, Y. / Mishkin, A. / Mishra, C. / Mistry, T. / Mitra, S. / Mitrofanov, V. P. / Mitselmakher, G. / Mittleman, R. / Mo, G. / Mogushi, K. / Mohapatra, S. R. P. / Mohite, S. R. / Molina-Ruiz, M. / Mondin, M. / Montani, M. / Moore, C. J. / Moraru, D. / Morawski, F. / Moreno, G. / Morisaki, S. / Mours, B. / Mow-Lowry, C. M. / Mozzon, S. / Muciaccia, F. / Mukherjee, Arunava / Mukherjee, D. / Mukherjee, S. / Mukherjee, Subroto / Mukund, N. / Mullavey, A. / Munch, J. / Muniz, E. A. / Murray, P. G. / Nagar, A. / Nardecchia, I. / Naticchioni, L. / Nayak, R. K. / Neil, B. F. / Neilson, J. / Nelemans, G. / Nelson, T. J. N. / Nery, M. / Neunzert, A. / Ng, K. Y. / Ng, S. / Nguyen, C. / Nguyen, P. / Nichols, D. / Nichols, S. A. / Nissanke, S. / Nocera, F. / Noh, M. / North, C. / Nothard, D. / Nuttall, L. K. / Oberling, J. / O'Brien, B. D. / Oganesyan, G. / Ogin, G. H. / Oh, J. J. / Oh, S. H. / Ohme, F. / Ohta, H. / Okada, M. A. / Oliver, M. / Olivetto, C. / Oppermann, P. / Oram, Richard J. / O'Reilly, B. / Ormiston, R. G. / Ortega, L. F. / O'Shaughnessy, R. / Ossokine, S. / Osthelder, C. / Ottaway, D. J. / Overmier, H. / Owen, B. J. / Pace, A. E. / Pagano, G. / Page, M. A. / Pagliaroli, G. / Pai, A. / Pai, S. A. / Palamos, J. R. / Palashov, O. / Palomba, C. / Pan, H. / Panda, P. K. / Pang, P. T. H. / Pankow, C. / Pannarale, F. / Pant, B. C. / Paoletti, F. / Paoli, A. / Parida, A. / Parker, W. / Pascucci, D. / Pasqualetti, A. / Passaquieti, R. / Passuello, D. / Patricelli, B. / Payne, E. / Pearlstone, B. L. / Pechsiri, T. C. / Pedersen, A. J. / Pedraza, M. / Pele, A. / Penn, S. / Perego, A. / Perez, C. J. / P'erigois, C. / Perreca, A. / Perries, S. / Petermann, J. / Pfeiffer, H. P. / Phelps, M. / Phukon, K. S. / Piccinni, O. J. / Pichot, M. / Piendibene, M. / Piergiovanni, F. / Pierro, V. / Pillant, G. / Pinard, L. / Pinto, I. M. / Piotrzkowski, K. / Pirello, M. / Pitkin, M. / Plastino, W. / Poggiani, R. / Pong, D. Y. T. / Ponrathnam, S. / Popolizio, P. / Porter, E. K. / Powell, J. / Prajapati, A. K. / Prasai, K. / Prasanna, R. / Pratten, G. / Prestegard, T. / Principe, M. / Prodi, G. A. / Prokhorov, L. / Punturo, M. / Puppo, P. / Purrer, M. / Qi, H. / Quetschke, V. / Quinonez, P. J. / Raab, F. J. / Raaijmakers, G. / Radkins, H. / Radulesco, N. / Raffai, P. / Rafferty, H. / Raja, S. / Rajan, C. / Rajbhandari, B. / Rakhmanov, M. / Ramirez, K. E. / Ramos-Buades, A. / Rana, Javed / Rao, K. / Rapagnani, P. / Raymond, V. / Razzano, M. / Read, J. / Regimbau, T. / Rei, L. / Reid, S. / Reitze, D. H. / Rettegno, P. / Ricci, F. / Richardson, C. J. / Richardson, J. W. / Ricker, P. M. / Riemenschneider, G. / Riles, K. / Rizzo, M. / Robertson, N. A. / Robinet, F. / Rocchi, A. / Rodriguez-Soto, R. D. / Rolland, L. / Rollins, J. G. / Roma, V. J. / Romanelli, M. / Romano, R. / Romel, C. L. / Romero-Shaw, I. M. / Romie, J. H. / Rose, C. A. / Rose, D. / Rose, K. / Rosi'nska, D. / Rosofsky, S. G. / Ross, M. P. / Rowan, S. / Rowlinson, S. J. / Roy, P. K. / Roy, Santosh / Roy, Soumen / Ruggi, P. / Rutins, G. / Ryan, K. / Sachdev, S. / Sadecki, T. / Sakellariadou, M. / Salafia, O. S. / Salconi, L. / Saleem, M. / Salemi, F. / Samajdar, A. / Sanchez, E. J. / Sanchez, L. 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K. / Zadro.zny, A. / Zanolin, M. / Zelenova, T. / Zendri, J.-P. / Zevin, M. / Zhang, J. / Zhang, L. / Zhang, T. / Zhao, C. / Zhao, G. / Zhou, M. / Zhou, Z. / Zhu, X. J. / Zimmerman, A. B. / Zucker, M. E. / Zweizig, J.

    Abstract: We report the observation of a compact binary coalescence involving a 22.2 - 24.3 $M_{\odot}$ black ... hole and a compact object with a mass of 2.50 - 2.67 $M_{\odot}$ (all measurements quoted at the 90$ ...

    Abstract We report the observation of a compact binary coalescence involving a 22.2 - 24.3 $M_{\odot}$ black hole and a compact object with a mass of 2.50 - 2.67 $M_{\odot}$ (all measurements quoted at the 90$\%$ credible level). The gravitational-wave signal, GW190814, was observed during LIGO's and Virgo's third observing run on August 14, 2019 at 21:10:39 UTC and has a signal-to-noise ratio of 25 in the three-detector network. The source was localized to 18.5 deg$^2$ at a distance of $241^{+41}_{-45}$ Mpc; no electromagnetic counterpart has been confirmed to date. The source has the most unequal mass ratio yet measured with gravitational waves, $0.112^{+0.008}_{-0.009}$, and its secondary component is either the lightest black hole or the heaviest neutron star ever discovered in a double compact-object system. The dimensionless spin of the primary black hole is tightly constrained to $\leq 0.07$. Tests of general relativity reveal no measurable deviations from the theory, and its prediction of higher-multipole emission is confirmed at high confidence. We estimate a merger rate density of 1-23 Gpc$^{-3}$ yr$^{-1}$ for the new class of binary coalescence sources that GW190814 represents. Astrophysical models predict that binaries with mass ratios similar to this event can form through several channels, but are unlikely to have formed in globular clusters. However, the combination of mass ratio, component masses, and the inferred merger rate for this event challenges all current models for the formation and mass distribution of compact-object binaries.
    Keywords covid19
    Publisher ArXiv
    Document type Article ; Online
    DOI 10.3847/2041-8213/ab960f
    Database COVID19

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  6. Article: In honor of Israel M. Kirzner

    Rizzo, Mario J / Kirzner, Israel M

    The review of Austrian economics Vol. 27, No. 3 , p. 229-231

    2014  Volume 27, Issue 3, Page(s) 229–231

    Author's details Mario J. Rizzo
    Keywords Education ; New York University ; Austrian Program
    Language English
    Publisher Kluwer Akad. Publ
    Publishing place Boston, Mass. [u.a.]
    Document type Article
    ZDB-ID 722917-3 ; 1478926-7
    ISSN 1573-7128 ; 0889-3047
    ISSN (online) 1573-7128
    ISSN 0889-3047
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  7. Article: James M. Buchanan

    Rizzo, Mario J / Buchanan, James M

    The review of Austrian economics Vol. 27, No. 2 , p. 135-145

    through an Austrian window

    2014  Volume 27, Issue 2, Page(s) 135–145

    Author's details Mario J. Rizzo
    Keywords Choice ; Utility function ; Revealed preference ; Preference satisfaction ; Autonomy
    Language English
    Publisher Kluwer Akad. Publ ; Springer Science + Business Media Inc
    Publishing place Boston, Mass. [u.a.] ; Norwell, Mass. [u.a.]
    Document type Article
    ZDB-ID 722917-3 ; 1478926-7
    ISSN 1573-7128 ; 0889-3047
    ISSN (online) 1573-7128
    ISSN 0889-3047
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  8. Article ; Online: Male-to-Female (MtoF) gender affirming surgery: Modified surgical approach for the glans reconfiguration in the neoclitoris (M-shape neoclitorolabioplasty).

    Cocci, Andrea / Rosi, Francesco / Frediani, Davide / Rizzo, Michele / Cito, Gianmartin / Trombetta, Carlo / Vedovo, Francesca / Grisanti Caroassai, Simone / Delle Rose, Augusto / Matteucci, Valeria / Buccianti, Piero / Ceccarelli, Cristina / Carini, Marco / Minervini, Andrea / Morelli, Girolamo

    Archivio italiano di urologia, andrologia : organo ufficiale [di] Societa italiana di ecografia urologica e nefrologica

    2019  Volume 91, Issue 2

    Abstract: ... for the reconfiguration of the glans in the clitoris and the labia minora, known as the "M-shape neoclitorolabioplasty ... shape mode and spread in order to obtain an M-shape glandular flap. The "belly" of the M-shape glans ... preserved and reconfigured forming the neoclitoris and the labia minora. The M-shape reconfiguration permit ...

    Abstract Purpose: The aim of this article is to describe our modified surgical technique for the reconfiguration of the glans in the clitoris and the labia minora, known as the "M-shape neoclitorolabioplasty".
    Methods: The glans with all its neurovascular bundle is isolated from the corpora cavernosa, incised in Y-shape mode and spread in order to obtain an M-shape glandular flap. The "belly" of the M-shape glans will constitute the triangular neoclitoris meanwhile the lateral flaps will constitute the labia minora. The inferior apex of the neoclitoris is fixed to the superior apex of the previously spatulated urethra. The two glans flaps are incised transversally to increase their length and sutured to the sides of the spatulated urethra forming the labia minora. Our technique permits to create an aesthetically pleasing neovagina preserving all the glandular erogenous sensitivity.
    Results: 94 patients have been treated with our modified technique of male-to-female (MtoF) gender affirming surgery. At median follow-up of 27.57 months, 81 (86.1%) patients reported vaginal intercourse and 78 (82.9%) patients referred presence of erogenous sensitivity during dilatations, intercourse or masturbations. All the glandular tissue is preserved and reconfigured forming the neoclitoris and the labia minora. The M-shape reconfiguration permit to create an aesthetically pleasant neoclitoris.
    Conclusions: This technique could be applied safely and easily to patients undergoing gender affirming surgery, allowing the creation of a neovagina with the best possible erogenous sensitivity without losing aesthetical results.
    MeSH term(s) Adult ; Clitoris/surgery ; Female ; Follow-Up Studies ; Humans ; Male ; Penis/surgery ; Sex Reassignment Surgery/methods ; Surgical Flaps ; Urethra/surgery ; Vagina/surgery
    Language English
    Publishing date 2019-07-02
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 1153526-x
    ISSN 2282-4197 ; 1120-8538 ; 1124-3562
    ISSN (online) 2282-4197
    ISSN 1120-8538 ; 1124-3562
    DOI 10.4081/aiua.2019.2.119
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  9. Article ; Online: Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON).

    Peron, Camille / Mauceri, Roberta / Cabassi, Tommaso / Segnali, Alice / Maresca, Alessandra / Iannielli, Angelo / Rizzo, Ambra / Sciacca, Francesca L / Broccoli, Vania / Carelli, Valerio / Tiranti, Valeria

    Stem cell research

    2020  Volume 48, Page(s) 101939

    Abstract: ... mutant) for one of three frequent mtDNA mutations now found in over 90% of patients worldwide (m.11778G ... A/MT-ND4, m.3460G > A/MT-ND1, m.14484 T > C/MT-ND6). Human induced pluripotent stem cells (hiPSCs) were ... generated from a patient carrying the homoplasmic m.3460G > A/MT-ND1 mutation using the Sendai virus non ...

    Abstract Leber's Hereditary Optic Neuropathy (LHON) is a maternally inherited disorder caused by homoplasmic mutations of mitochondrial DNA (mtDNA). LHON is characterized by the selective degeneration of the retinal ganglion cells (RGC). Almost all LHON maternal lineages are homoplasmic mutant (100% mtDNA copies are mutant) for one of three frequent mtDNA mutations now found in over 90% of patients worldwide (m.11778G > A/MT-ND4, m.3460G > A/MT-ND1, m.14484 T > C/MT-ND6). Human induced pluripotent stem cells (hiPSCs) were generated from a patient carrying the homoplasmic m.3460G > A/MT-ND1 mutation using the Sendai virus non-integrating virus.
    MeSH term(s) DNA, Mitochondrial/genetics ; Humans ; Induced Pluripotent Stem Cells ; Mitochondria/genetics ; Mutation/genetics ; NADH Dehydrogenase/genetics ; Optic Atrophy, Hereditary, Leber/genetics
    Chemical Substances DNA, Mitochondrial ; NADH Dehydrogenase (EC 1.6.99.3) ; MT-ND1 protein, human (EC 7.1.1.2)
    Language English
    Publishing date 2020-08-03
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1876-7753
    ISSN (online) 1876-7753
    DOI 10.1016/j.scr.2020.101939
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  10. Article ; Online: Water Quality Assessment: A Quali-Quantitative Method for Evaluation of Environmental Pressures Potentially Impacting on Groundwater, Developed under the M.I.N.O.Re. Project.

    De Filippis, Giovanni / Piscitelli, Prisco / Castorini, Idelberto Francesco / Raho, Anna Maria / Idolo, Adele / Ungaro, Nicola / Lacarbonara, Filomena / Sgaramella, Erminia / Laghezza, Vito / Chionna, Donatella / Fedele, Alberto / Galante, Biagio / Stasi, Raffaele / Maggiotto, Giuseppe / Rizzo, Emanuele / Nocita, Fabio Rocco / Imbriani, Giovanni / Serio, Francesca / Sansò, Paolo /
    Miani, Alessandro / De Donno, Antonella / Gramegna, Domenico / Campanaro, Vincenzo / Francioso, Salvatore / Bucci, Roberto / Carlà, Roberto / Rollo, Rodolfo / Chapman, Deborah V / Bruno, Vito / On Behalf Of Local Health Authority Asl Lecce And Regional Agency For Environmental Protection Arpa Puglia

    International journal of environmental research and public health

    2020  Volume 17, Issue 6

    Abstract: Background: ...

    Abstract Background:
    MeSH term(s) Environmental Monitoring ; Groundwater ; Humans ; Water ; Water Pollutants, Chemical ; Water Quality ; Water Supply ; Water Wells
    Chemical Substances Water Pollutants, Chemical ; Water (059QF0KO0R)
    Language English
    Publishing date 2020-03-12
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1660-4601
    ISSN (online) 1660-4601
    DOI 10.3390/ijerph17061835
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