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T

Titus J. Boggon

yale university
H指数:65
被引数:3.3万

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Novel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemia

新型杂合SPI1c.538C>T p.(Leu180Phe)变异导致PU.1单倍剂量不足，进而引发无丙种球蛋白血症。

clinical immunology
IF3.8
2025-05-280
PRE
Daddali, Ravindra; Kettunen, Kaisa; Turunen, Tanja; Knox, Ainsley V. C.; Laine, Pia; Chowdhury, Iftekhar; Vanttinen, Markku; Mamia, Nanni; Stiegler, Amy L.; Boggon, Titus J.; Kere, Juha; Romberg, Neil; Seppanen, Mikko R. J.; Varjosalo, Markku; Martelius, Timi; Gronholm, Juha
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
NATURE COMMUNICATIONS
IF15.7
2023-11-1710
OAAI
Zhao, Shujuan; Mekbib, Kedous Y.; van der Ent, Martijn A.; Allington, Garrett; Prendergast, Andrew; Chau, Jocelyn E.; Smith, Hannah; Shohfi, John; Ocken, Jack; Duran, Daniel; Furey, Charuta G.; Hao, Le Thi; Duy, Phan Q.; Reeves, Benjamin C.; Zhang, Junhui; Nelson-Williams, Carol; Chen, Di; Li, Boyang; Nottoli, Timothy; Bai, Suxia; Rolle, Myron; Zeng, Xue; Dong, Weilai; Fu, Po-Ying; Wang, Yung-Chun; Mane, Shrikant; Piwowarczyk, Paulina; Fehnel, Katie Pricola; See, Alfred Pokmeng; Iskandar, Bermans J.; Aagaard-Kienitz, Beverly; Moyer, Quentin J.; Dennis, Evan; Kiziltug, Emre; Kundishora, Adam J.; DeSpenza Jr, Tyrone; Greenberg, Ana B. W.; Kidanemariam, Seblewengel M.; Hale, Andrew T.; Johnston, James M.; Jackson, Eric M.; Storm, Phillip B.; Lang, Shih-Shan; Butler, William E.; Carter, Bob S.; Chapman, Paul; Stapleton, Christopher J.; Patel, Aman B.; Rodesch, Georges; Smajda, Stanislas; Berenstein, Alejandro; Barak, Tanyeri; Erson-Omay, E. Zeynep; Zhao, Hongyu; Moreno-De-Luca, Andres; Proctor, Mark R.; Smith, Edward R.; Orbach, Darren B.; Alper, Seth L.; Nicoli, Stefania; Boggon, Titus J.; Lifton, Richard P.; Gunel, Murat; King, Philip D.; Jin, Sheng Chih; Kahle, Kristopher T.
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-05-0111
OAAI
Timberlake, Andrew T.; McGee, Stephen; Allington, Garrett; Kiziltug, Emre; Wolfe, Erin M.; Stiegler, Amy L.; Boggon, Titus J.; Sanyoura, May; Morrow, Michelle; Wenger, Tara L.; Fernandes, Erica M.; Caluseriu, Oana; Persing, John A.; Jin, Sheng Chih; Lifton, Richard P.; Kahle, Kristopher T.; Kruszka, Paul
Fibroblast Growth Factor Receptor 3 Associates with and Tyrosine Phosphorylates p90 RSK2, Leading to RSK2 Activation That Mediates Hematopoietic Transformation
MOLECULAR AND CELLULAR BIOLOGY
IF2.7
2023-03-2157
OAAI
Kang, Sumin; Elf, Shannon; Dong, Shaozhong; Hitosugi, Taro; Lythgoe, Katherine; Guo, Ailan; Ruan, Hong; Lonial, Sagar; Khoury, Hanna J.; Williams, Ifor R.; Lee, Benjamin H.; Roesel, Johannes L.; Karsenty, Gerard; Hanauer, Andre; Taunton, Jack; Boggon, Titus J.; Gu, Ting-Lei; Chen, Jing

研究方向

暂未获取到该数据
A
Amy L. Stiegler
H 指数:20论文数:58被引数:2,991
S
Sumin Kang
H 指数:34论文数:97被引数:6,242
F
Fadlo R. Khuri
H 指数:122论文数:1,089被引数:8.4万
范骏 封面图
范骏
H 指数:35论文数:126被引数:5,481
J
Jing Chen
H 指数:35论文数:139被引数:6,168
S
Sagar Lonial
H 指数:116论文数:1,510被引数:6.7万
B
Byung Hak Ha
H 指数:20论文数:98被引数:2,408
D
David Calderwood
H 指数:55论文数:148被引数:1.5万
S
Shannon Elf
H 指数:31论文数:126被引数:5,510
T
Taro Hitosugi
H 指数:26论文数:70被引数:4,334