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

Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy

反义寡核苷酸介导的基因敲低疗法治疗两名患有严重KCNT1癫痫性脑病的婴儿

Nakayama, Tojo; El Achkar, Christelle M; Burbano, Lisseth E; Quraishi, Imran H; Wu, Jing; Li, Melody; Asami, Yutaro; Golinski, Sean R; Sherrill, Emma; Goodlett, Benjamin D; de Gusmao, Claudio M; Friedman, Danielle A; Lentucci, Claudia; Suslovitch, Victoria; Riccardi, Olivia; Faour, Kamli N W; Kuniholm, Ashley; Soucy Verran, Aubrie; Coffman, Siobhan; Ahtam, Banu; Zhao, Boxun; Chin, Diana H; DiDonato, Renata L; Hu, Chunguang A; Lopez, Edith; Hills, Sonia; Maljevic, Snezana; Tran, Helene; Bush, Lynn W; Grant, Patricia Ellen; Madsen, Joseph R; Smith, Richard S; Kaczmarek, Leonard K; Berde, Charles B; Yu, Timothy W

PAF15-PCNA exhaustion governs the strand-specific control of DNA replication.

PAF15-PCNA 耗竭控制着 DNA 复制的链特异性调控。

Chhetri Gita, Badugu Sugith Babu, Petriman Narcis-Adrian, Petersen Mikkel Bo, Güller Aylin Seren, Fajri Nora, Coulée Manon, Pitchai Ganesha Pandian, Novotný Jan, Larsen Frederik Tibert, Møller Andreas Fønss, Ebbesen Morten Frendø, Ravnsborg Tina, Yadav Anoop Kumar, Balarasa Barath, Lunding Anita, Polasek-Sedlackova Hana, Jensen Ole N, Ravnskjaer Kim, Brewer Jonathan R, Madsen Jesper Grud Skat, Petryk Nataliya, Andersen Jens S, Somyajit Kumar

Femtosecond concerted rotation of molecules on a 2D material interface

飞秒级分子在二维材料界面上的协同旋转

Baumgärtner, Kiana; Nozaki, Misa; Reuner, Marvin; Wind, Nils; Haniuda, Masato; Metzger, Christian; Heber, Michael; Kutnyakhov, Dmytro; Pressacco, Federico; Wenthaus, Lukas; Hara, Keisuke; Chordiya, Kalyani; Min, Chul-Hee; Beye, Martin; Reinert, Friedrich; Roth, Friedrich; Mahatha, Sanjoy Kr; Madsen, Anders; Wehling, Tim; Niki, Kaori; Popova-Gorelova, Daria; Rossnagel, Kai; Scholz, Markus

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans

CELSR1基因的双等位基因变异会导致人类脑畸形、神经发育障碍和癫痫。

Bonardi, Claudia M; Møller, Rikke S; Ruiz-Reig, Nuria; Chai, Guoliang; Madsen, Camilla G; Bayat, Allan; Hammer, Trine B; Fenger, Christina D; Gardella, Elena; Gawlinski, Pawel; Dawidziuk, Mateusz; Wiszniewski, Wojciech; Bekiesinska-Figatowska, Monika; Cabet, Sara; Rossi, Massimiliano; Lesca, Gaetan; Gouy, Evan; Jepsen, Birgit; Mieszczanek, Tomasz S; Sanchez Russo, Rossana; Barr, Eileen E; Õunap, Katrin; Ilves, Pilvi; Wojcik, Monica H; Aittaleb, Mohamed; Brusgaard, Klaus; Tissir, Fadel; Rubboli, Guido

Male obesity causes adipose mitochondrial dysfunction in F(1) mouse progeny via a let-7-DICER axis.

雄性肥胖通过 let-7-DICER 轴导致 F(1) 代小鼠脂肪线粒体功能障碍。

Huang Chien, Park Joo-Hyun, Altıntaş Ali, Stanic Natasa, Kyle de Leon Kristine, Isacson Signe, Kalogeropoulos Panagiotis, Topel Hande, Madsen Tobias, Zanner Sebastian, Ruppert Phillip Mm, Valdebenito Rocio, Havelund Jesper, Larsen Bjørk Ditlev Marcher, Chien Yen-Ting, Huang Wen-Chi, Budi Yovita Permata, Jiang Yi-Fan, Rocha Andréa Livia, Lima-Junior Niedson Correia, Szczepanowska Karolina, Lackmann Jan-Wilm, Trifunovic Aleksandra, Hejbøl Eva Kildall, Detlefsen Sönke, Jepsen Ida Engberg, Kolstrup Stefanie Hansborg, Laguna-Barraza Ricardo, Martin-Gonzalez Javier, Khodosevich Konstantin, Færgeman Nils J, Mori Marcelo A, Friedländer Marc R, Öst Anita, Barrès Romain, Kornfeld Jan-Wilhelm

Dominant intragraft plasma cells targeting bilirubin implicate local heme catabolism in human cardiac allograft vasculopathy.

以胆红素为靶点的移植血管内优势浆细胞表明局部血红素分解代谢与人类心脏同种异体移植血管病变有关。

See Sarah B, Aguiar Talita, Dietzel Max, Ausmeier Mattea, Nguyen Hang Tt, Mashiko Shunya, Donadeu Laura, Cordero Hector, Roy Poulomi, Roson Lorea, Marboe Charles C, Szabolcs Matthias J, Farr Maryjane, González-Costello Jose, Olivella Aleix, Naka Yoshifumi, Takeda Koji, Vasilescu Rodica, Clerkin Kevin J, Benichou Gilles, Madsen Joren C, King R Glenn, Bestard Oriol, Kransdorf Evan P, Zorn Emmanuel

Circulating protein biomarkers of physical fitness associated with cardiometabolic risk in women after gestational diabetes: a PONCH study

妊娠期糖尿病后女性心血管代谢风险相关的循环蛋白生物标志物与体能的关系:一项PONCH研究

Kristiansson, Emilia; Holmäng, Agneta; Wallenius, Kristina; Chung, H Sophia; Hess, Sonja; Pettersson, Stefan; Madsen, Klavs; Andersson-Hall, Ulrika

Empagliflozin improves beta cell function independently of relief of glucotoxicity in patients with type 2 diabetes: results from a randomised cross-over study with insulin as comparator

恩格列净可改善 2 型糖尿病患者的 β 细胞功能,且与缓解葡萄糖毒性无关:一项以胰岛素为对照的随机交叉研究结果

Thirumathyam, Roopameera; Richter, Erik A; van Hall, Gerrit; Andersen, Nicoline R; Madsen, Per L; Holst, Jens J; Madsbad, Sten; Jørgensen, Nils B

A low frequency damaging SORCS2 variant identified in a family with ADHD compromises receptor stability and quenches activity.

在一个患有 ADHD 的家庭中发现了一种低频有害的 SORCS2 变异,这种变异会损害受体稳定性并抑制其活性。

Kaas Mathias, Dinesen Sarah Broholt, Ahlgreen Ole, Madsen Peder, Mølgaard Simon, Dalby Anders, Gustafsen Camilla, Olsen Ditte, Duan Jinjie, Vilstrup Joachim, Lende Jonas, Nordestgaard Sanne, Zayats Tetyana, Knappskog Per Morten, Johansson Stefan, Neckelmann Gesche, Franke Barbara, Thirup Søren, Børglum Anders, Reif Andreas, Vægter Christian, Demontis Ditte, Haavik Jan, Glerup Simon, Skeldal Sune

Penetrating versus non-penetrating mesh fixation in laparoscopic groin hernia repair

腹腔镜腹股沟疝修补术中穿透式与非穿透式网片固定的比较

Rancke-Madsen, Patricia; Rosengaard, Louise Olsbro; Baker, Jason Joe; Rosenberg, Jacob; Öberg, Stina