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

Ift43 Controls the Ciliary Levels of Gli2 and Gli3

Ift43 控制纤毛中 Gli2 和 Gli3 的水平

Stuck, Michael W; Gupta, Mohona; Knutson, Luke N; Desai, Paurav B; Robert, Karyn L; Anuszczyk, Jeffrey J; Smith, Abigail O; Paulson, Delayna; Nandadasa, Sumeda; Devine, William; Lo, Cecilia W; Cox, Timothy C; Fink, Darci M; Pazour, Gregory J

Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis.

耳廓畸形是由层级增强子簇中的拷贝数变异驱动的,而显性增强子重现了人类的发病机制

Xu Xiaopeng, Chen Qi, Huang Qingpei, Cox Timothy C, Zhu Hao, Hu Jintian, Han Xi, Meng Ziqiu, Wang Bingqing, Liao Zhiying, Xu Wenxin, Xiao Baichuan, Lang Ruirui, Liu Jiqiang, Huang Jian, Tang Xiaokai, Wang Jinmo, Li Qiang, Liu Ting, Zhang Qingguo, Antonarakis Stylianos E, Zhang Jiao, Fan Xiaoying, Liu Huisheng, Zhang Yong-Biao

PITX2 expression and Neanderthal introgression in HS3ST3A1 contribute to variation in tooth dimensions in modern humans

PITX2表达和尼安德特人基因渗入HS3ST3A1基因导致现代人类牙齿尺寸的变异。

Li, Qing; Faux, Pierre; Wentworth Winchester, Emma; Yang, Guangrui; Chen, Yingjie; Ramírez, Luis Miguel; Fuentes-Guajardo, Macarena; Poloni, Lauriane; Steimetz, Emilie; Gonzalez-José, Rolando; Acuña, Victor; Bortolini, Maria-Cátira; Poletti, Giovanni; Gallo, Carla; Rothhammer, Francisco; Rojas, Winston; Zheng, Youyi; Cox, James C; Patel, Vaishali; Hoffman, Matthew P; Ding, Li; Peng, Chenchen; Cotney, Justin; Navarro, Nicolas; Cox, Timothy C; Delgado, Miguel; Adhikari, Kaustubh; Ruiz-Linares, Andrés

Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia

常见的顺式调控变异会改变致病性SHROOM3变异在颅面短小症中的外显率

Zhu, Hao; Zhang, Jiao; Rao, Soumya; Durbin, Matthew D; Li, Ying; Lang, Ruirui; Liu, Jiqiang; Xiao, Baichuan; Shan, Hailin; Meng, Ziqiu; Wang, Jinmo; Tang, Xiaokai; Shi, Zhenni; Cox, Liza L; Zhao, Shouqin; Ware, Stephanie M; Tan, Tiong Y; de Silva, Michelle; Gallacher, Lyndon; Liu, Ting; Mi, Jie; Zeng, Changqing; Zheng, Hou-Feng; Zhang, Qingguo; Antonarakis, Stylianos E; Cox, Timothy C; Zhang, Yong-Biao

Correction: Kularbkaew et al. Genetic Variants in the TBC1D2B Gene Are Associated with Ramon Syndrome and Hereditary Gingival Fibromatosis. Int. J. Mol. Sci. 2024, 25, 8867

更正:Kularbkaew 等人,《TBC1D2B 基因的遗传变异与拉蒙综合征和遗传性牙龈纤维瘤病相关》,《国际分子科学杂志》,2024 年,25 卷,8867 页。

Kularbkaew, Thatphicha; Thongmak, Tipaporn; Sandeth, Phan; Daroontum, Teerada; Durward, Callum S; Vittayakittipong, Pichai; Duke, Paul; Iamaroon, Anak; Kintarak, Sompid; Intachai, Worrachet; Ngamphiw, Chumpol; Tongsima, Sissades; Jatooratthawichot, Peeranat; Cox, Timothy C; Ketudat Cairns, James R; Kantaputra, Piranit

Genetic Variants in KIF7 May Contribute to Supernumerary Tooth Formation

KIF7基因变异可能导致多生牙的形成

Chainaphaphorn, Phohathai; Ngamphiw, Chumpol; Tongsima, Sissades; Chintakanon, Kanoknart; Kawasaki, Katsushige; Cox, Timothy C; Ohazama, Atsushi; Ketudat Cairns, James R; Kantaputra, Piranit Nik

IRF6 C-terminal phosphorylation links inflammation and cell-cell adhesion in oral keratinocytes: implications for oral lichen planus

IRF6 C 端磷酸化将口腔角质形成细胞中的炎症和细胞间粘附联系起来:对口腔扁平苔藓的意义

Osorio-Osorno, Y Andrea; Parada-Sanchez, Mónica T; Cox, Liza L; Cox, Timothy C

Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain

罕见 Plec 变异的纯合子状态提示其可能在先天性痛觉缺失中发挥作用

Kantaputra, Piranit; Daroontum, Teerada; Kitiyamas, Kantapong; Piyakhunakorn, Panat; Kawasaki, Katsushige; Sathienkijkanchai, Achara; Wasant, Pornswan; Vatanavicharn, Nithiwat; Yasanga, Thippawan; Kaewgahya, Massupa; Tongsima, Sissades; Cox, Timothy C; Arold, Stefan T; Ohazama, Atsushi; Ngamphiw, Chumpol

Genetic Variants in the TBC1D2B Gene Are Associated with Ramon Syndrome and Hereditary Gingival Fibromatosis

TBC1D2B基因的遗传变异与拉蒙综合征和遗传性牙龈纤维瘤病相关。

Kularbkaew, Thatphicha; Thongmak, Tipaporn; Sandeth, Phan; Daroontum, Teerada; Durward, Callum S; Vittayakittipong, Pichai; Duke, Paul; Iamaroon, Anak; Kintarak, Sompid; Intachai, Worrachet; Ngamphiw, Chumpol; Tongsima, Sissades; Jatooratthawichot, Peeranat; Cox, Timothy C; Ketudat Cairns, James R; Kantaputra, Piranit

Altering maternal calcium and phosphorus dietary intake induces persistent sex-specific changes in the dentition of the offspring

改变母体钙磷饮食摄入量会导致子代牙齿出现持续的性别特异性变化。

Hassan, Mohamed G; Hassan, Reham; Hassan, Dina G; Abdelrahman, Hams H; Cox, Timothy C; Jheon, Andrew H