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

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities

NRDC基因的双等位基因变异会导致一种神经发育障碍,其特征是新生儿死亡、小头畸形和脑部异常。

Pehlivan, Davut; Sandoval, Abigail; Maroofian, Reza; Lecoquierre, François; Al Shamsi, Aisha M; Lee, Gyu S; Yesilbas, Osman; Taylor, Preston; McDougal, Matthew B; Bahrambeigi, Vahid; Aryani, Omid; Ramirez, Juan Felipe; Salih, Khalid Hama; Al Alam, Chadi; Morsy, Heba; Hussien, Haytham; Omar, Tarek; Abdelrazek, Ibrahim M; Brehin, Anne Claire; Marafi, Dana; Kalayci, Tugba; Rahma, Jubran Abu; Talbeya, Jawabreh Kassem; Dabbah, Husein; Verspyck, Eric; Moosavian, Toktam; Fatih, Jawid M; Mitani, Tadahiro; Akay, Gulsen; Calame, Daniel G; Guerrot, Anne-Marie; Chung, Wendy K; Houlden, Henry; Lupski, James R; Shalata, Adel; Yoon, Wan Hee

Allele-specific correction of ATAD3A pathogenic variants via template-free CRISPR-Cas9 editing and gene conversion

通过无模板 CRISPR-Cas9 编辑和基因转换对 ATAD3A 致病变异进行等位基因特异性校正

Bae, Taejeong; Park, Yohan; LaGrone, Anel; Suvakov, Milovan; Zhang, Ping; Park, Hyekyung; Remmen, Holly Van; Lupski, James R; Harel, Tamar; Kim, Jean J; Abyzov, Alexej; Yoon, Wan Hee

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

ATAD3基因簇中反复发生的从头NAHR相互重复导致一种神经遗传特征,该特征与胆固醇和线粒体代谢紊乱有关。

Gunning, Adam C; Strucinska, Klaudia; Muñoz Oreja, Mikel; Parrish, Andrew; Caswell, Richard; Stals, Karen L; Durigon, Romina; Durlacher-Betzer, Karina; Cunningham, Mitchell H; Grochowski, Christopher M; Baptista, Julia; Tysoe, Carolyn; Baple, Emma; Lahiri, Nayana; Homfray, Tessa; Scurr, Ingrid; Armstrong, Catherine; Dean, John; Fernandez Pelayo, Uxoa; Jones, Aleck W E; Taylor, Robert W; Misra, Vinod K; Yoon, Wan Hee; Wright, Caroline F; Lupski, James R; Spinazzola, Antonella; Harel, Tamar; Holt, Ian J; Ellard, Sian

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

编码线粒体膜蛋白的ATAD3A基因的复发性从头突变和双等位基因变异会导致不同的神经系统综合征。

Harel, Tamar; Yoon, Wan Hee; Garone, Caterina; Gu, Shen; Coban-Akdemir, Zeynep; Eldomery, Mohammad K; Posey, Jennifer E; Jhangiani, Shalini N; Rosenfeld, Jill A; Cho, Megan T; Fox, Stephanie; Withers, Marjorie; Brooks, Stephanie M; Chiang, Theodore; Duraine, Lita; Erdin, Serkan; Yuan, Bo; Shao, Yunru; Moussallem, Elie; Lamperti, Costanza; Donati, Maria A; Smith, Joshua D; McLaughlin, Heather M; Eng, Christine M; Walkiewicz, Magdalena; Xia, Fan; Pippucci, Tommaso; Magini, Pamela; Seri, Marco; Zeviani, Massimo; Hirano, Michio; Hunter, Jill V; Srour, Myriam; Zanigni, Stefano; Lewis, Richard Alan; Muzny, Donna M; Lotze, Timothy E; Boerwinkle, Eric; Gibbs, Richard A; Hickey, Scott E; Graham, Brett H; Yang, Yaping; Buhas, Daniela; Martin, Donna M; Potocki, Lorraine; Graziano, Claudio; Bellen, Hugo J; Lupski, James R

A mitocentric view of Parkinson's disease

以线粒体为中心的帕金森病观点

Haelterman, Nele A; Yoon, Wan Hee; Sandoval, Hector; Jaiswal, Manish; Shulman, Joshua M; Bellen, Hugo J

Group choreography: mechanisms orchestrating the collective movement of border cells

群体编排:协调边境细胞集体运动的机制

Montell, Denise J; Yoon, Wan Hee; Starz-Gaiano, Michelle

Protein-bound polysaccharide from Phellinus linteus inhibits tumor growth, invasion, and angiogenesis and alters Wnt/β-catenin in SW480 human colon cancer cells.

来自裂褶菌的蛋白质结合多糖抑制肿瘤生长、侵袭和血管生成,并改变SW480人结肠癌细胞中的Wnt/β-catenin信号通路

Song Kyoung-Sub, Li Ge, Kim Jong-Seok, Jing Kaipeng, Kim Tae-Dong, Kim Jin-Pyo, Seo Seung-Bo, Yoo Jae-Kuk, Park Hae-Duck, Hwang Byung-Doo, Lim Kyu, Yoon Wan-Hee

Identification of Novel Phosphorylation Motifs Through an Integrative Computational and Experimental Analysis of the Human Phosphoproteome

通过对人类磷酸化蛋白质组的计算和实验整合分析,鉴定新的磷酸化基序。

Amanchy, Ramars; Kandasamy, Kumaran; Mathivanan, Suresh; Periaswamy, Balamurugan; Reddy, Raghunath; Yoon, Wan-Hee; Joore, Jos; Beer, Michael A; Cope, Leslie; Pandey, Akhilesh

A serum-stable branched dimeric anti-VEGF peptide blocks tumor growth via anti-angiogenic activity

血清稳定的分支二聚体抗VEGF肽通过抗血管生成活性阻断肿瘤生长

Kim, Jung-Wook; Kim, Tae-Dong; Hong, Bok Sil; Kim, Oh Youn; Yoon, Wan-Hee; Chae, Chi-Bom; Gho, Yong Song

Comparison of the efficacy of oral capecitabine versus bolus 5-FU in preoperative radiotherapy of locally advanced rectal cancer

比较口服卡培他滨与推注5-氟尿嘧啶在局部晚期直肠癌术前放疗中的疗效

Kim, Jae Sung; Kim, Jun Sang; Cho, Moon June; Yoon, Wan Hee; Song, Kye Sang