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

A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development

在小鼠和人类颅面发育过程中,远端全局控制区对于前部 HOXA 基因的正常表达至关重要。

Andrea Wilderman ,Eva D'haene ,Machteld Baetens ,Tara N Yankee ,Emma Wentworth Winchester ,Nicole Glidden ,Ellen Roets ,Jo Van Dorpe ,Sandra Janssens ,Danny E Miller ,Miranda Galey ,Kari M Brown ,Rolf W Stottmann ,Sarah Vergult ,K Nicole Weaver ,Samantha A Brugmann ,Timothy C Cox ,Justin Cotney

Genetic Variants in KCTD1 Are Associated with Isolated Dental Anomalies

KCTD1基因变异与孤立性牙齿异常有关

Cholaporn Ruangchan ,Chumpol Ngamphiw ,Annop Krasaesin ,Narin Intarak ,Sissades Tongsima ,Massupa Kaewgahya ,Katsushige Kawasaki ,Phitsanu Mahawong ,Kullaya Paripurana ,Bussaneeya Sookawat ,Peeranat Jatooratthawichot ,Timothy C Cox ,Atsushi Ohazama ,James R Ketudat Cairns ,Thantrira Porntaveetus ,Piranit Kantaputra

FOXI3 pathogenic variants cause one form of craniofacial microsomia

FOXI3致病变异会导致一种颅面短小症。

Ke Mao # ,Christelle Borel # ,Muhammad Ansar # ,Angad Jolly ,Periklis Makrythanasis ,Christine Froehlich ,Justyna Iwaszkiewicz ,Bingqing Wang ,Xiaopeng Xu ,Qiang Li ,Xavier Blanc ,Hao Zhu ,Qi Chen ,Fujun Jin ,Harinarayana Ankamreddy ,Sunita Singh ,Hongyuan Zhang ,Xiaogang Wang ,Peiwei Chen ,Emmanuelle Ranza ,Sohail Aziz Paracha ,Syed Fahim Shah ,Valentina Guida ,Francesca Piceci-Sparascio ,Daniela Melis ,Bruno Dallapiccola ,Maria Cristina Digilio ,Antonio Novelli ,Monia Magliozzi ,Maria Teresa Fadda ,Haley Streff ,Keren Machol ,Richard A Lewis ,Vincent Zoete ,Gabriella Maria Squeo ,Paolo Prontera ,Giorgia Mancano ,Giulia Gori ,Milena Mariani ,Angelo Selicorni ,Stavroula Psoni ,Helen Fryssira ,Sofia Douzgou ,Sandrine Marlin ,Saskia Biskup ,Alessandro De Luca ,Giuseppe Merla ,Shouqin Zhao ,Timothy C Cox ,Andrew K Groves ,James R Lupski ,Qingguo Zhang ,Yong-Biao Zhang ,Stylianos E Antonarakis

SERPINB3, Adult-Onset Immunodeficiency, and Generalized Pustular Psoriasis

SERPINB3、成人发病的免疫缺陷和全身性脓疱性银屑病

Piranit Kantaputra, Teerada Daroontum, Mati Chuamanochan, Suteeraporn Chaowattanapanit, Salin Kiratikanon, Charoen Choonhakarn, Worrachet Intachai, Bjorn Olsen, Sissades Tongsima, Chumpol Ngamphiw, Patrizia Pontisso, Timothy C Cox, Puey Ounjai

TRIM18 is a critical regulator of viral myocarditis and organ inflammation

TRIM18 是病毒性心肌炎和器官炎症的关键调节剂

Mingli Fang, Ao Zhang, Yong Du, Wenting Lu, Junying Wang, Laurie J Minze, Timothy C Cox, Xian Chang Li, Junji Xing, Zhiqiang Zhang

Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants

耳廓髁综合征2是由PLCB4变异体的显性负效应引起的。

Stanley M Kanai,Caleb Heffner,Timothy C Cox,Michael L Cunningham,Francisco A Perez,Aaron M Bauer,Philip Reigan,Cristan Carter,Stephen A Murray,David E Clouthier

Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency

TGFBR2 变异功能丧失是全身性脓疱性银屑病和成人发病免疫缺陷的一个促成因素

Piranit Kantaputra, Teerada Daroontum, Mati Chuamanochan, Suteeraporn Chaowattanapanit, Worrachet Intachai, Bjorn Olsen, Thanapat Sastraruji, Sissades Tongsima, Chumpol Ngamphiw, Jatupol Kampuansai, Timothy C Cox, Salin Kiratikanon

GATA3 is essential for separating patterning domains during facial morphogenesis

GATA3 对于面部形态发生过程中分离模式域至关重要

Makoto Abe, Timothy C Cox, Anthony B Firulli, Stanley M Kanai, Jacob Dahlka, Kim-Chew Lim, James Douglas Engel, David E Clouthier

Rapamycin rejuvenates oral health in aging mice

雷帕霉素可改善老年小鼠的口腔健康

Jonathan Y An ,Kristopher A Kerns ,Andrew Ouellette ,Laura Robinson ,H Douglas Morris ,Catherine Kaczorowski ,So-Il Park ,Title Mekvanich ,Alex Kang ,Jeffrey S McLean ,Timothy C Cox ,Matt Kaeberlein

Sonic Hedgehog upregulation does not enhance the survival and engraftment of stem cell-derived cardiomyocytes in infarcted hearts

Sonic Hedgehog 上调不会增强梗塞心脏中干细胞衍生的心肌细胞的存活和植入

Jill J Weyers, Jagadambika J Gunaje, Benjamin Van Biber, Amy Martinson, Hans Reinecke, William M Mahoney, Stephen M Schwartz, Timothy C Cox, Charles E Murry