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

Lipopolysaccharide-induced DNA damage response activates DNA-PKcs to drive actin cytoskeleton disruption and cardiac microvascular dysfunction in endotoxemia.

脂多糖诱导的 DNA 损伤反应激活 DNA-PKcs,从而导致内毒素血症中的肌动蛋白细胞骨架破坏和心脏微血管功能障碍

Tan Ying, Ouyang Yue, Xiao Lushan, Huang Jianming, Li Fuye, Ma Zisheng, Tan Chuhong, Feng Weibin, Davis Erica, Tang Yaoping, Chang Xing, Li Haixia

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

中心体-纤毛界面处的 CEP76 功能障碍会导致一系列纤毛病。

Khan Kamal, Tavares Erika, Bishara Katherine, Ozanturk Aysegul, Qebibo Leila, Frangakis Stephan, Calame Daniel G, Meunier Isabelle, Bocquet Béatrice, Ploski Rafal, Al Khateeb Mohammad Ayman, Marafi Dana, Mansard Luke, Damaj Lena, Lewis Richard A, Ullah Farid, Arbogast Thomas, Ogden Jackson P, Harion Madeleine, Willems Marjolaine, Zaki Maha S, Bartolomaeus Tobias, Roux Anne-Françoise, Lupski James R, Rydzanicz Malgorzata, Jamra Rami Abou, Ramond Francis, Heon Elise, Burglen Lydie, Davis Erica E

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

TMEM184B 的致病性变异会导致一种与代谢信号改变相关的神经发育综合征。

Chapman, Kimberly A; Ullah, Farid; Yahiku, Zachary A; Khan, Sheraz; Kodiparthi, Sri Varsha; Kellaris, Georgios; White, Hazel G; Powell, Andrew T; Correia, Sandrina P; Stödberg, Tommy; Sofocleous, Christalena; Marinakis, Nikolaos M; Fryssira, Helena; Tsoutsou, Eirini; Traeger-Synodinos, Jan; Accogli, Andrea; Sciruicchio, Vittorio; Salpietro, Vincenzo; Striano, Pasquale; Muss, Candace; Keren, Boris; Heron, Delphine; Berger, Seth I; Pond, Kelvin W; Sirimulla, Suman; Davis, Erica E; Bhattacharya, Martha R C

Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.

SNAPIN 基因编码逆行动力蛋白衔接蛋白,其双等位基因有害变异会导致产前发病的神经发育障碍。

Yousaf Hammad, de Koning Maayke A, Khan Kamal, Gilmore Kelly L, Hoffer Mariëtte J V, Kellaris Georgios, Lanone Sophie, Dagouassat Maylis, Ullah Farid, Adama van Scheltema Phebe N, Heron Delphine, Capri Yline, Kuechler Alma, Schweiger Bernd, Haak Monique C, Keren Boris, Tran Mau Them Frederic, Peeters-Scholte Cacha M P C D, Kaiser Frank J, Koopmann Tamara T, Mei Hailiang, Yalcin Binnaz, Depienne Christel, Vora Neeta L, Santen Gijs W E, Davis Erica E

Accelerating evidence generation to implementation: Establishment of the Leading Awareness to Action through Implementation of Cardiometabolic Efforts (LATTICE) consortium

加速证据生成并转化为实际行动:建立引领意识提升、通过实施心血管代谢举措实现行动的联盟(LATTICE)

Jones, Laney K; Gluckman, Ty J; Bhatt, Ankeet S; Boer, Leandro; Bonaca, Marc P; Campbell-Salome, Gemme; Davis, Erica; Desai, Nihar R; George, Jyothis; Head, Lisa; Marvel, Francoise A; Penn, Marc; Peterson, Eric D; Scirica, Benjamin M; Shah, Nishant P; Wilemon, Katherine; Kalich, Bethany A; Martin, Seth S

Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders

扩大与SOX11相关疾病相关的内分泌异常谱

Sun, Bang; Stamou, Maria I; Stockman, Sara L; Campbell, Mark B; Plummer, Lacey; Salnikov, Kathryn B; Kotan, Leman Damla; Topaloglu, A Kemal; Hisama, Fuki M; Davis, Erica E; Seminara, Stephanie B; Balasubramanian, Ravikumar

Genetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz-Jeghers Syndrome

对患有佩茨-杰格斯综合征的核心家庭进行基因调查和转录组分析

Khan, Tahir N; Liu, Chunyu; Yap, Kai Lee; Satti, Humayoon Shafique; Khan, Ayaz; Safeer, Muhammad; Khan, Sheraz; Malik, Naveed Altaf; Zhang, Feng; Tariq, Muhammad; Davis, Erica E

Comorbid Diabetes Is Associated With Dyspnea Severity and Cardiometabolic Biomarkers in Black Adults With Heart Failure

合并糖尿病与黑人心力衰竭成人患者的呼吸困难严重程度和心血管代谢生物标志物相关

Butts, Brittany; Kamara, Julia; Morris, Alanna A; Davis, Erica; Higgins, Melinda K; Dunbar, Sandra B

Gut microbial β-glucuronidases influence endobiotic homeostasis and are modulated by diverse therapeutics

肠道微生物β-葡萄糖醛酸酶影响内源性菌群稳态,并受多种治疗药物的调节。

Joshua B Simpson ,Morgan E Walker ,Joshua J Sekela ,Samantha M Ivey ,Parth B Jariwala ,Cameron M Storch ,Mark E Kowalewski ,Amanda L Graboski ,Adam D Lietzan ,William G Walton ,Kacey A Davis ,Erica W Cloer ,Valentina Borlandelli ,Yun-Chung Hsiao ,Lee R Roberts ,David H Perlman ,Xue Liang ,Hermen S Overkleeft ,Aadra P Bhatt ,Kun Lu ,Matthew R Redinbo

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability

SRPK3 对人类和斑马鱼的认知和视觉发育至关重要,这解释了 X 连锁智力障碍。

Roychaudhury, Arkaprava; Lee, Yu-Ri; Choi, Tae-Ik; Thomas, Mervyn G; Khan, Tahir N; Yousaf, Hammad; Skinner, Cindy; Maconachie, Gail; Crosier, Moira; Horak, Holli; Constantinescu, Cris S; Kim, Tae-Yoon; Lee, Kang-Han; Kyung, Jae-Jun; Wang, Tao; Ku, Bonsu; Chodirker, Bernard N; Hammer, Michael F; Gottlob, Irene; Norton, William H J; Gerlai, Robert; Kim, Hyung-Goo; Graziano, Claudio; Pippucci, Tommaso; Iovino, Emanuela; Montanari, Francesca; Severi, Giulia; Toro, Camilo; Boerkoel, Cornelius F; Cha, Hyo Sun; Choi, Cheol Yong; Kim, Sungjin; Yoon, Je-Hyun; Gilmore, Kelly; Vora, Neeta L; Davis, Erica E; Chudley, Albert E; Schwartz, Charles E; Kim, Cheol-Hee