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

Molecular basis for assembly and activation of the Hook3 - KIF1C complex-dependent transport machinery.

Hook3-KIF1C复合物依赖性运输机制的组装和激活的分子基础

Lee Hye Seon, Yu Daseuli, Baek Kyoung Eun, Shin Ho-Chul, Kim Seung Jun, Do Heo Won, Ku Bonsu

Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population

巴基斯坦人群中与听力损失相关的基因中复发性和新型致病变异

Shadab, Madiha; Ben-Mahmoud, Afif; Martínez Völter, Luis Nicolás; Abbasi, Ansar Ahmed; Ku, Bonsu; Ejaz, Ahsan; Latif, Zahid; Gupta, Vijay; Owrang, Daniel; Jang, Mi-Hyeon; Zhang, Zijin; Mohammad, Rahema; Houlden, Henry; Kim, Hyung-Goo; Vona, Barbara

Expanding the mutational spectrum of congenital microcephaly in Pakistani families

扩大巴基斯坦家族先天性小头畸形的突变谱

Farooq, Sundas; Asif, Maria; Abbasi, Ansar A; Latif, Zahid; Ku, Bonsu; Makhdoom, Ehtisham Ul Haq; Shadab, Madiha; Khan, Muzammil Ahmad; Muzammal, Muhammad; Waqar, Raja; Nisar, Rameez; Khan, Falak Sher; Aslam, Sanwal; Schweiger, Michal R; Hussain, Muhammad Sajid

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

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)

巨头畸形和指趾异常扩大了伴有智力发育障碍的高磷酸酶症 3 型 (HPMRS3) 的 PGAP2 变异体的表型谱

Susgun, Seda; Ben-Mahmoud, Afif; Rüschendorf, Franz; Ku, Bonsu; Hussain, Syeda Iqra; Schulz, Solveig; Puk, Oliver; Biskup, Saskia; Labonne, Jonathan D J; Don, Dilan Wellalage; Gupta, Vijay; Choi, Tae-Ik; Khan, Saadullah; Wasif, Naveed; Lacassie, Yves; Layman, Lawrence C; Ugur Iseri, Sibel Aylin; Kim, Cheol-Hee; Kim, Hyung-Goo

Structural analysis of the FERM domain of human protein tyrosine phosphatase non-receptor type 21

人类非受体型蛋白酪氨酸磷酸酶 21 的 FERM 结构域的结构分析

Lee, Hye Seon; Ku, Bonsu; Shin, Ho Cheol; Kim, Seung Jun

Author Correction: Architectural basis for cylindrical self-assembly governing Plk4-mediated centriole duplication in human cells

作者更正:调控人类细胞中 Plk4 介导的中心粒复制的圆柱形自组装的结构基础

Il Ahn, Jong; Zhang, Liang; Ravishankar, Harsha; Fan, Lixin; Kirsch, Klara; Zeng, Yan; Meng, Lingjun; Park, Jung-Eun; Yun, Hye-Yeoung; Ghirlando, Rodolfo; Ma, Buyong; Ball, David; Ku, Bonsu; Nussinov, Ruth; Schmit, Jeremy D; Heinz, William F; Kim, Seung Jun; Karpova, Tatiana; Wang, Yun-Xing; Lee, Kyung S

A fluorescent probe to simultaneously detect both O-GlcNAcase and phosphatase

一种可同时检测 O-GlcNAcase 和磷酸酶的荧光探针

Boo, Jihyeon; Lee, Jongwon; Kim, Young-Hyun; Lee, Chang-Hee; Ku, Bonsu; Shin, Injae

Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing

通过外显子组测序在卡塔尔单纯型自闭症家族中鉴定出两个新的自闭症基因:TRPC4 和 SCFD2。

Gupta, Vijay; Ben-Mahmoud, Afif; Ku, Bonsu; Velayutham, Dinesh; Jan, Zainab; Yousef Aden, Abdi; Kubbar, Ahmad; Alshaban, Fouad; Stanton, Lawrence W; Jithesh, Puthen Veettil; Layman, Lawrence C; Kim, Hyung-Goo

Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability

敲除斑马鱼的眼动缺陷揭示了SRPK3是导致X连锁智力障碍的致病基因。

Lee, Yu-Ri; Thomas, Mervyn G; Roychaudhury, Arkaprava; Skinner, Cindy; Maconachie, Gail; Crosier, Moira; Horak, Holli; Constantinescu, Cris S; Choi, Tae-Ik; Kyung, Jae-Jun; Wang, Tao; Ku, Bonsu; Chodirker, Bernard N; Hammer, Michael F; Gottlob, Irene; Norton, William H J; Chudley, Albert E; Schwartz, Charles E; Kim, Cheol-Hee