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

Continuous Glucose Monitoring and Maternal and Neonatal Morbidity in Pregnant People With Type 1 Diabetes

持续血糖监测与1型糖尿病孕妇的母婴发病率

Fisher, Stephanie A; Pavan, Jacopo; Villa-Tamayo, María F; Fabris, Chiara; Conboy, Natalie E; Niznik, Charlotte; Yee, Lynn M; Moscoso-Vasquez, Marcela; Batista, Annanda Fernandes Moura B; Kohn, Michael A; Kobayashi, Emily; Majithia, Amit R; Huang, Jingtong; Tian, Tiffany; Aaron, Rachel E; Klonoff, David

Plectin affects cell viscoelasticity at small and large deformations

Plectin 在小形变和大形变下都会影响细胞的粘弹性

Conboy, James P; Lettinga, Mathilde G; van Vliet, Nicole; Winter, Lilli; Wiche, Gerhard; MacKintosh, Fred C; Koenderink, Gijsje H

Actin and vimentin jointly control cell viscoelasticity and compression stiffening

肌动蛋白和波形蛋白共同控制细胞粘弹性和压缩硬化

Conboy, James P; Lettinga, Mathilde G; Boukany, Pouyan E; MacKintosh, Fred C; Koenderink, Gijsje H

One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them

134种生殖系PU.1变异体及其携带者的无丙种球蛋白血症患者

Knox, Ainsley V C; Cominsky, Lauren Y; Sun, Di; Cruz Cabrera, Emylette; Nolan, Brian E; Ofray, Edann; Benetti, Elisa; Visconti, Camilla; Barzaghi, Federica; Rosenzweig, Sergio D; Lawrence, Monica G; Sullivan, Kathleen E; Yoon, Samuel; Rachimi, Suzanna; Padem, Nurcicek; Conboy, Erin; Stojanovic, Maja; Petrovic, Gordana; Pasic, Srdjan; Church, Joseph; Ferdman, Ronald M; Candotti, Fabio; Arlabosse, Tiphaine; Theodoropoulou, Katerina; Dutmer, Cullen M; Maródi, László; Szücs, Gabriella; Broides, Arnon; Nahum, Amit; Levy, Jacov; Kettunen, Kaisa; Daddali, Ravindra; Seppänen, Mikko; Vänttinen, Markku; Martelius, Timi; Grönholm, Juha; Peri, Matilde; Azzari, Chiara; Ricci, Silvia; Ojaimi, Samar; Edwards, Emily S J; van Zelm, Menno C; Sun, Jinqiao; Abolhassani, Hassan; Pan-Hammarström, Qiang; Hakonarson, Hakon; Mayr, Daniel; Boztug, Kaan; Boisson, Bertrand; Casanova, Jean-Laurent; Le Coz, Carole; Poon, Gregory M K; Romberg, Neil

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome

DDX39B基因的新生突变和遗传突变会导致一种新的神经发育综合征。

Booth, Kevin T A; Jangam, Sharayu V; Chui, Martin M C; Treat, Kayla; Graziani, Lorenzo; Soldano, Alessia; Ruan, Yao; Wan-Hei Hui, Jeffrey; White, Kerry; Christensen, Celanie K; Lynnes, Ty; Yamamoto, Shinya; Kanca, Oguz; Tsang, Mandy H Y; Lynch, Sally A; Mullegama, Sureni V; Baptista, Julia; Iancu, Daniela; Joss, Shelagh K; Wong, Sandra Y Y; Mak, Christopher C Y; Kwong, Anna K Y; Bellen, Hugo J; Conboy, Erin; Sanges, Remo; Leung, Anskar Yu-Hung; Wangler, Michael F; Chung, Brian H Y; Vetrini, Francesco

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

基因组学和蛋白质组学相结合,揭示了肌张力障碍中难以捉摸的变异和巨大的病因异质性

Zech Michael, Dzinovic Ivana, Skorvanek Matej, Harrer Philip, Necpal Jan, Kopajtich Robert, Kittke Volker, Tilch Erik, Zhao Chen, Tsoma Eugenia, Sorrentino Ugo, Indelicato Elisabetta, Stehr Antonia, Saparov Alice, Abela Lucia, Adamovicova Miriam, Afenjar Alexandra, Assmann Birgit, Baloghova Janette, Baumann Matthias, Berutti Riccardo, Brezna Zuzana, Brugger Melanie, Brunet Theresa, Cogne Benjamin, Colangelo Isabel, Conboy Erin, Distelmaier Felix, Eckenweiler Matthias, Garavaglia Barbara, Geerlof Arie, Graf Elisabeth, Hackenberg Annette, Harvanova Denisa, Haslinger Bernhard, Havrankova Petra, Hoffmann Georg F, Janzarik Wibke G, Keren Boris, Kolnikova Miriam, Kolokotronis Konstantinos, Kosutzka Zuzana, Koy Anne, Krenn Martin, Krygier Magdalena, Kusikova Katarina, Maier Oliver, Meitinger Thomas, Mertes Christian, Milenkovic Ivan, Monfrini Edoardo, Santos Dias Mourao Andre, Musacchio Thomas, Nizon Mathilde, Ostrozovicova Miriam, Pavlov Martin, Prihodova Iva, Rektorova Irena, Romito Luigi M, Rybanska Barbora, Sadr-Nabavi Ariane, Schwenger Susanne, Shoeibi Ali, Sitzberger Alexandra, Smirnov Dmitrii, Svantnerova Jana, Tautanova Raushana, Toelle Sandra P, Ulmanova Olga, Vetrini Francesco, Vill Katharina, Wagner Matias, Weise David, Zorzi Giovanna, Di Fonzo Alessio, Oexle Konrad, Berweck Steffen, Mall Volker, Boesch Sylvia, Schormair Barbara, Prokisch Holger, Jech Robert, Winkelmann Juliane

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

显性负性ATP5F1A变异体破坏氧化磷酸化,导致神经系统疾病。

Sara M Fielder ,Marisa W Friederich ,Daniella H Hock ,Jessie R Zhang ,Liana M Valin ,Jill A Rosenfeld ,Kevin T A Booth ,Natasha J Brown ,Rocio Rius ,Tanavi Sharma ,Liana N Semcesen ,Kim C Worley ,Lindsay C Burrage ,Kayla Treat ,Tara Samson ,Sarah Govert ,Sara DaCunha ,Weimin Yuan ,Jian Chen ,Jacob Lesinski ,Hieu Hoang ,Stephanie A Morrison ,Farah A Ladha ,Roxanne A Van Hove ,Cole R Michel ,Richard Reisdorph ,Eric Tycksen ,Dustin Baldridge ,Gary A Silverman ,Claudia Soler-Alfonso ,Erin Conboy ,Francesco Vetrini ,Lisa Emrick ,William J Craigen ,David A Stroud ,Johan L K Van Hove ,Tim Schedl ,Stephen C Pak

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

DNA结合亲和力和特异性决定了BCL11B相关疾病的表型多样性

Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M; Leppälä, Juha; Luu, Sharon M; Lyon, Gholson J; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K G; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R; Tolosa, Eva; Lessel, Davor

Optogenetic and chemical genetic tools for rapid repositioning of vimentin intermediate filaments.

用于快速重新定位波形蛋白中间丝的光遗传学和化学遗传学工具

Pasolli Milena, Meiring Joyce C M, Conboy James P, Koenderink Gijsje H, Akhmanova Anna

DNA methylation clocks struggle to distinguish inflammaging from healthy aging, but feature rectification improves coherence and enhances detection of inflammaging

DNA甲基化时钟难以区分炎症衰老和健康衰老,但特征校正可以提高其一致性并增强对炎症衰老的检测。

Skinner, Colin M; Conboy, Michael J; Conboy, Irina M