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

A cell-based Sonic Hedgehog signaling transduction system to identify additive and synergistic chemical interactions

一种基于细胞的Sonic Hedgehog信号转导系统,用于识别累加和协同化学相互作用。

Beames, Tyler G; Everson, Joshua L; Desai, Dhara A; Perez, Kayla Y; Wu, Elizabeth; Eberhart, Johann K; Lipinski, Robert J

Frem1 activity is regulated by Sonic hedgehog signaling in the cranial neural crest mesenchyme during midfacial morphogenesis.

在面中部形态发生过程中,颅神经嵴间充质中的 Sonic hedgehog 信号传导调节 Frem1 活性

McLaughlin Matthew T, Sun Miranda R, Beames Tyler G, Steward Austin C, Theisen Joshua W M, Chung Hannah M, Everson Joshua L, Moskowitz Ivan P, Sheets Michael D, Lipinski Robert J

Gene-alcohol interactions in birth defects

基因-酒精相互作用与出生缺陷

Everson, Joshua L; Eberhart, Johann K

Identifying environmental risk factors and gene-environment interactions in holoprosencephaly

全前脑畸形的环境风险因素和基因-环境相互作用的识别

Addissie, Yonit A; Troia, Angela; Wong, Zoe C; Everson, Joshua L; Kozel, Beth A; Muenke, Maximilian; Lipinski, Robert J; Malecki, Kristen M C; Kruszka, Paul

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

PPP1R12A功能缺失变异:从孤立性性别逆转到全前脑畸形谱系和泌尿生殖系统畸形

Hughes, Joel J; Alkhunaizi, Ebba; Kruszka, Paul; Pyle, Louise C; Grange, Dorothy K; Berger, Seth I; Payne, Katelyn K; Masser-Frye, Diane; Hu, Tommy; Christie, Michelle R; Clegg, Nancy J; Everson, Joshua L; Martinez, Ariel F; Walsh, Laurence E; Bedoukian, Emma; Jones, Marilyn C; Harris, Catharine Jean; Riedhammer, Korbinian M; Choukair, Daniela; Fechner, Patricia Y; Rutter, Meilan M; Hufnagel, Sophia B; Roifman, Maian; Kletter, Gad B; Delot, Emmanuele; Vilain, Eric; Lipinski, Robert J; Vezina, Chad M; Muenke, Maximilian; Chitayat, David

Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study

产前接触杀虫剂与全前脑畸形风险:一项病例对照研究

Addissie, Yonit A; Kruszka, Paul; Troia, Angela; Wong, Zoë C; Everson, Joshua L; Kozel, Beth A; Lipinski, Robert J; Malecki, Kristen M C; Muenke, Maximilian

Multifactorial Genetic and Environmental Hedgehog Pathway Disruption Sensitizes Embryos to Alcohol-Induced Craniofacial Defects

多因素遗传和环境因素导致的 Hedgehog 信号通路紊乱使胚胎对酒精引起的颅面缺陷更加敏感

Everson, Joshua L; Batchu, Rithik; Eberhart, Johann K

Cohesin complex-associated holoprosencephaly

黏连蛋白复合物相关全前脑畸形

Kruszka, Paul; Berger, Seth I; Casa, Valentina; Dekker, Mike R; Gaesser, Jenna; Weiss, Karin; Martinez, Ariel F; Murdock, David R; Louie, Raymond J; Prijoles, Eloise J; Lichty, Angie W; Brouwer, Oebele F; Zonneveld-Huijssoon, Evelien; Stephan, Mark J; Hogue, Jacob; Hu, Ping; Tanima-Nagai, Momoko; Everson, Joshua L; Prasad, Chitra; Cereda, Anna; Iascone, Maria; Schreiber, Allison; Zurcher, Vickie; Corsten-Janssen, Nicole; Escobar, Luis; Clegg, Nancy J; Delgado, Mauricio R; Hajirnis, Omkar; Balasubramanian, Meena; Kayserili, Hülya; Deardorff, Matthew; Poot, Raymond A; Wendt, Kerstin S; Lipinski, Robert J; Muenke, Maximilian

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly

与全前脑畸形相关的 CCR4-NOT 转录复合物亚基 1 (CNOT1) 变体

Kruszka, Paul; Berger, Seth I; Weiss, Karin; Everson, Joshua L; Martinez, Ariel F; Hong, Sungkook; Anyane-Yeboa, Kwame; Lipinski, Robert J; Muenke, Maximilian

Human germline hedgehog pathway mutations predispose to fatty liver

人类生殖细胞系 Hedgehog 信号通路突变易导致脂肪肝

Guillen-Sacoto, Maria J; Martinez, Ariel F; Abe, Yu; Kruszka, Paul; Weiss, Karin; Everson, Joshua L; Bataller, Ramon; Kleiner, David E; Ward, Jerrold M; Sulik, Kathleen K; Lipinski, Robert J; Solomon, Benjamin D; Muenke, Maximilian