日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

通过基因组、表型、功能、结构和深度学习整合,将甲状腺激素转运蛋白MCT8的变异与疾病严重程度联系起来。

Groeneweg, Stefan; van Geest, Ferdy S; Martín, Mariano; Dias, Mafalda; Frazer, Jonathan; Medina-Gomez, Carolina; Sterenborg, Rosalie B T M; Wang, Hao; Dolcetta-Capuzzo, Anna; de Rooij, Linda J; Teumer, Alexander; Abaci, Ayhan; van den Akker, Erica L T; Ambegaonkar, Gautam P; Armour, Christine M; Bacos, Iiuliu; Bakhtiani, Priyanka; Barca, Diana; Bauer, Andrew J; van den Berg, Sjoerd A A; van den Berge, Amanda; Bertini, Enrico; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Brunner, Doris; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; Chesover, Alexander; Christian, Peter; Coenen-van der Spek, Jet; de Coo, Irenaeus F M; Coutant, Regis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi; George, Belinda; Gevers, Evelien F; Greenup, Erin; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Hurst, Anna C; Huynh, Tony; Isaza, Amber R; Klosowska, Anna; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Kulkarni, Abhishek; Laemmle, Alexander; LaFranchi, Stephen H; Lawson-Yuen, Amy; Lebl, Jan; Leeuwenburgh, Selmar; Linder-Lucht, Michaela; López Martí, Anna; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana Krenek; Mancilla, Edna E; McCormick, Kenneth L; McGowan, Anne; Mericq, Veronica; Lora, Felipe Monti; Moran, Carla; Muller, Katalin E; Nicol, Lindsey E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Seckold, Rowen; Seven Menevse, Tuba; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; Stals, Milou A M; Stegenga, Merel T; Stoupa, Athanasia; Subramanian, Gopinath M; Szeifert, Lilla; Tonduti, Davide; Turan, Serap; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; van Wermeskerken, Anne-Marie; Wierzba, Jolanta; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Rivadeneira, Fernando; Meima, Marcel E; Marks, Debora S; Nicola, Juan P; Chen, Chi-Hua; Medici, Marco; Visser, W Edward

Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series

MCT8 C 端变异的临床和功能后果:病例系列

Ferdy S van Geest, Marcel E Meima, Kyra E Stuurman, Nicole I Wolf, Marjo S van der Knaap, Cláudia F Lorea, Fabiano O Poswar, Filippo Vairo, Nicola Brunetti-Pierri, Gerarda Cappuccio, Priyanka Bakhtiani, Sonja A de Munnik, Robin P Peeters, W Edward Visser, Stefan Groeneweg

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

MCT8 缺乏症的疾病特征:一项国际性、回顾性、多中心队列研究

Groeneweg, Stefan; van Geest, Ferdy S; Abacı, Ayhan; Alcantud, Alberto; Ambegaonkar, Gautem P; Armour, Christine M; Bakhtiani, Priyanka; Barca, Diana; Bertini, Enrico S; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Bugiani, Marianna; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; de Coo, Irenaeus F M; Coutant, Régis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dica, Alice; Dimitri, Paul; Dolcetta-Capuzzo, Anna; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; George, Belinda; Gevers, Evelien F; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Huynh, Tony; Kłosowska, Anna; van der Knaap, Marjo S; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Lawson-Yuen, Amy; Lebl, Jan; Linder-Lucht, Michaela; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana; Mancilla, Edna E; McGowan, Anne; Mericq, Veronica; Lora, Felipe M; Moran, Carla; Müller, Katalin E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Menevse, Tuba S; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; van der Spek, Jet; Stals, Milou A M; Stoupa, Athanasia; Subramanian, Gopinath M; Tonduti, Davide; Turan, Serap; den Uil, Corstiaan A; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; Wierzba, Jolante; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Visser, W Edward

An Uncommon Case of Ectopic Adrenocorticotropic Hormone Syndrome from a Pancreatic Neuroendocrine Tumor

胰腺神经内分泌肿瘤引起的异位促肾上腺皮质激素综合征一例罕见病例

Wang, Wen; Miao, Ruoyu; Zhang, Ling; Hasan, Syed Askari; Bakhtiani, Parkash

A novel, stable, aqueous glucagon formulation using ferulic acid as an excipient

一种新型、稳定的水性胰高血糖素制剂,以阿魏酸为赋形剂。

Bakhtiani, Parkash A; Caputo, Nicholas; Castle, Jessica R; El Youssef, Joseph; Carroll, Julie M; David, Larry L; Roberts, Charles T Jr; Ward, W Kenneth

Factors affecting the success of glucagon delivered during an automated closed-loop system in type 1 diabetes

影响1型糖尿病患者在自动闭环系统中输注胰高血糖素成功率的因素

Bakhtiani, P A; El Youssef, J; Duell, A K; Branigan, D L; Jacobs, P G; Lasarev, M R; Castle, J R; Ward, W K

Biochemical stabilization of glucagon at alkaline pH

碱性 pH 下胰高血糖素的生化稳定性

Nicholas Caputo, Melanie A Jackson, Jessica R Castle, Joseph El Youssef, Parkash A Bakhtiani, Colin P Bergstrom, Julie M Carroll, Matthew E Breen, Gerald L Leonard, Larry L David, Charles T Roberts Jr, W Kenneth Ward

A review of artificial pancreas technologies with an emphasis on bi-hormonal therapy

对人工胰腺技术进行综述,重点关注双激素疗法

Bakhtiani, P A; Zhao, L M; El Youssef, J; Castle, J R; Ward, W K

PS3-28: Telemedicine Specialty Consultation in a Medically Underserved Community

PS3-28:在医疗服务不足的社区开展远程医疗专科咨询

Alammar, Muath; Alsoghayer, Suad; El-Abd, Kossay; Alkhenizan, Abdullah; Bang, Neha; Diab, Mousab; Lim, Jonea; Patel, Anjani; Simon, Barbara; Javed, Laraib; Rehan, Aiman; Hashim, Laila; Lim, Jonea; Jalal, Erica; Baldwin, Chelsey; Choudhari, Pooja; Mootha, Sudha; Ah Kim, Hyun; Yoon Lim, Ji; Seung Jung, Hye; Zielinski, Rachel A; Syeda, Asma; Esayag-Tendler, Beatriz; Balachandar, Neeraja; Agarwal, Shubham; Soe, Kyaw Kyaw; Senguttuvan, Rajan; Huante, David; Ricoy, Giselle; Wee, Erica; Sherman, Ashley K; Clements, Mark A; Halpin, Kelsee; Yan, Yun; Patel, Sruti; Raynes, Hillary; Diaz, George; Rapaport, Robert; Yau, Mabel; Rimal, Priya; Musurakis, Clio; Gilden, Janice; Yang, Almira; Firek, Anthony; Munir, Iqbal; Lawrence, Rebecca; Dunaif, Andrea; Agarwal, Parul; Mamilly, Leena; Drapeau, Annie; Walz, Patrick; Salloum, Ralph; Henry, Rohan; Wee, Erica; Dileepan, Kavitha; Tsai, S L; Paprocki, Emily; Calzada, Stephanie; Sarvaideo, Jenna Lynne; Puar, Akshan; Saeed, Zeb Ijaz; Ferrari, Aldo De; Pywell, Cameron; Bahl, Deepti; Figueredo, Veronica M; Diaz, Alejandro; Punni, Emma; Lim, Jonea; Patel, Richa; Almourani, Rajaa; Srinath, Meghna; Uraizee, Aisha; Nayyar, Manav; Brietzke, Stephen; Regunath, Hariharan; Gardner, Michael; Bakhtiani, Priyanka; Burgener, Katherine; Farquhar, Madeleine; Allen, Lisa; Jacobson, Michelle; Wolfman, Wendy; Kelly, Catherine; Lega, Iliana; Bello, Fatimah; Soni, Meera; Snyder, Samuel; Palacios, Juan; Robinson, Sylvia; Aguirre, Roxana; Boucher-Berry, Claudia; Naseem, Raheela; Ravindra, Shruthi; Tirupati, Sunanda; Fasen, Madeline; Kosmiski, Lisa; Dash, Kalpana; Ayyagari, Usha; Nair, Nirmal; Watari, Jessica; Miller, Jeffrey; Gallo, Linda; Moritz, Karen; Akison, Lisa; Pla, Carlos; Imam, Ahmad; Samantray, Julie; Nagaraja, Soumya; Yazdanie, Noor; Challagulla, Sabita; Trevathan, Sean; Alradadi, Rasha; Sanchez, Juan; Gonzales, Irish Judy; Palen, Ted; Bodily, Mike