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

A dual role for GLI3 signaling in neural crest development

GLI3信号在神经嵴发育中的双重作用

Han, Simon J Y; Adani, Vinit; Farrow, Edward; Parmar, Bhaval; Chang, Ching-Fang; Cochran, Kim; Horne, Ronald R; Ramkissoon, Paige J K; Esteban, Ezekiel; Elliott, Kelsey H; Peterson, Kevin A; Gebelein, Brian; García-Castro, Martín I; Brugmann, Samantha A

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome

在两名女性中检测到杂合复发性 MAX p.(Arg60Gln) 变异,证实并扩展了多指-巨头综合征的表型谱。

Showpnil, Iftekhar A; Feinstein-Goren, Neta; Greenbaum, Lior; Barel, Ortal; Koboldt, Daniel C; Brugmann, Samantha A; Weaver, Kathryn Nicole; Slavotinek, Anne; Pode-Shakked, Ben; Stottmann, Rolf W

An inducible system to study the regulatory functions of GSX2 in human lateral ganglionic eminence-like progenitors

利用诱导系统研究GSX2在人类侧神经节隆起样祖细胞中的调控功能

Farrow, Edward; Rao, Smitha; Han, Simon J Y; Chang, Xuyao; Huynh, Cindy; Brugmann, Samantha A; Lim, Hee-Woong; Tchieu, Jason; Campbell, Kenneth; Gebelein, Brian

Cranial neural crest shortage leads to extensive craniofacial anomalies in mice mutant for the NR2F1/2 nuclear receptors.

NR2F1/2 核受体突变小鼠的颅神经嵴不足会导致广泛的颅面畸形。

Paulding David, Han Simon J Y, Timmons Jonathan, Caye Michelle, Riedel Alexa, Brugmann Samantha A, Barske Lindsey

The widely used Ucp1-Cre transgene elicits complex developmental and metabolic phenotypes.

广泛使用的 Ucp1-Cre 转基因可引起复杂的发育和代谢表型

Halurkar Manasi Suchit, Inoue Oto, Singh Archana, Mukherjee Rajib, Ginugu Meghana, Ahn Christopher, Bonatto Paese Christian Louis, Duszynski Molly, Brugmann Samantha A, Lim Hee-Woong, Sanchez-Gurmaches Joan

A non-syndromic orofacial cleft risk locus links tRNA splicing defects to neural crest cell pathologies.

非综合征性口面裂风险基因位点将 tRNA 剪接缺陷与神经嵴细胞病变联系起来

Bartusel Michaela, Kim Skylar X, Rehimi Rizwan, Darnell Alicia M, Nikolić Miloš, Heggemann Julia, Kolovos Petros, van Ijcken Wilfred F J, Varineau Jade, Crispatzu Giuliano, Mangold Elisabeth, Brugmann Samantha A, Vander Heiden Matthew G, Laugsch Magdalena, Ludwig Kerstin U, Rada-Iglesias Alvaro, Calo Eliezer

Genetic analysis and functional assessment of a TGFBR2 variant in micrognathia and cleft palate.

对小颌畸形和腭裂中 TGFBR2 变异体的遗传分析和功能评估

Michaels Jes-Rite, Iyyanar Paul P R, Husami Ammar, Vontell Andrew M, Brugmann Samantha A, Stottmann Rolf W

Cell fate specification during respiratory development requires ARID1A-containing canonical BAF complex activity.

呼吸系统发育过程中细胞命运的决定需要含有 ARID1A 的经典 BAF 复合物的活性

Lee Hyunwook, Jaquish Abigail, Fernandes Sharlene, Zhao Barbara, Elitz Amber, Cook Kathleen, Trovillion Sarah, Bottasso-Arias Natalia, Han Simon J Y, Goodwin Samantha, Russell Nicholas X, Zacharias Amanda L, Brugmann Samantha A, Whitsett Jeffrey A, Sinner Debora, Sun Xin, Swarr Daniel T, Zacharias William J

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

ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification

ARID1A-BAF 协调 ZIC2 基因组占据,实现颅神经嵴规范中的上皮-间质转化

Samantha M Barnada, Aida Giner de Gracia, Cruz Morenilla-Palao, Maria Teresa López-Cascales, Chiara Scopa, Francis J Waltrich Jr, Harald M M Mikkers, Maria Elena Cicardi, Jonathan Karlin, Davide Trotti, Kevin A Peterson, Samantha A Brugmann, Gijs W E Santen, Steven B McMahon, Eloísa Herrera, Marco T