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

Defective IFT57 underlies a novel cause of Bardet-Biedl syndrome

IFT57 缺陷是 Bardet-Biedl 综合征的一种新病因。

Nitoiu, Alexandra; Zhang, Qihong; Tavares, Erika; Li, Janice Min; Ahmed, Kashif; Green-Sanderson, Kit; Rashid, Mahnoor; Morcos, Shahir M; Maynes, Jayson T; Campos, Eric I; Sheffield, Val C; Vincent, Ajoy; Héon, Elise

Corrigendum to "The BBSome regulates mitochondria dynamics and function molecular metabolism" [Mol Metabol 67 (2023) 101654]

对“BBSome调节线粒体动力学和功能分子代谢”的更正[Mol Metabol 67 (2023) 101654]

Guo, Deng-Fu; Merrill, Ronald A; Qian, Lan; Hsu, Ying; Zhang, Qihong; Lin, Zhihong; Thedens, Daniel R; Usachev, Yuriy M; Grumbach, Isabella; Sheffield, Val C; Strack, Stefan; Rahmouni, Kamal

Consensus Recommendation for Mouse Models of Ocular Hypertension to Study Aqueous Humor Outflow and Its Mechanisms

关于利用小鼠眼高压模型研究房水流出及其机制的共识建议

McDowell, Colleen M; Kizhatil, Krishnakumar; Elliott, Michael H; Overby, Darryl R; van Batenburg-Sherwood, Joseph; Millar, J Cameron; Kuehn, Markus H; Zode, Gulab; Acott, Ted S; Anderson, Michael G; Bhattacharya, Sanjoy K; Bertrand, Jacques A; Borras, Terete; Bovenkamp, Diane E; Cheng, Lin; Danias, John; De Ieso, Michael Lucio; Du, Yiqin; Faralli, Jennifer A; Fuchshofer, Rudolf; Ganapathy, Preethi S; Gong, Haiyan; Herberg, Samuel; Hernandez, Humberto; Humphries, Peter; John, Simon W M; Kaufman, Paul L; Keller, Kate E; Kelley, Mary J; Kelly, Ruth A; Krizaj, David; Kumar, Ajay; Leonard, Brian C; Lieberman, Raquel L; Liton, Paloma; Liu, Yutao; Liu, Katy C; Lopez, Navita N; Mao, Weiming; Mavlyutov, Timur; McDonnell, Fiona; McLellan, Gillian J; Mzyk, Philip; Nartey, Andrews; Pasquale, Louis R; Patel, Gaurang C; Pattabiraman, Padmanabhan P; Peters, Donna M; Raghunathan, Vijaykrishna; Rao, Ponugoti Vasantha; Rayana, Naga; Raychaudhuri, Urmimala; Reina-Torres, Ester; Ren, Ruiyi; Rhee, Douglas; Chowdhury, Uttio Roy; Samples, John R; Samples, E Griffen; Sharif, Najam; Schuman, Joel S; Sheffield, Val C; Stevenson, Cooper H; Soundararajan, Avinash; Subramanian, Preeti; Sugali, Chenna Kesavulu; Sun, Yang; Toris, Carol B; Torrejon, Karen Y; Vahabikashi, Amir; Vranka, Janice A; Wang, Ting; Willoughby, Colin E; Xin, Chen; Yun, Hongmin; Zhang, Hao F; Fautsch, Michael P; Tamm, Ernst R; Clark, Abbot F; Ethier, C Ross; Stamer, W Daniel

Disruption of Dopamine Receptor 1 Localization to Primary Cilia Impairs Signaling in Striatal Neurons

多巴胺受体1定位到初级纤毛的紊乱会损害纹状体神经元的信号传导

Stubbs, Toneisha; Koemeter-Cox, Andrew; Bingman, James I; Zhao, Fangli; Kalyanasundaram, Anuradha; Rowland, Leslie A; Periasamy, Muthu; Carter, Calvin S; Sheffield, Val C; Askwith, Candice C; Mykytyn, Kirk

An open source and convenient method for the wide-spread testing of COVID-19 using deep throat sputum samples

一种利用深咽痰样本进行广泛COVID-19检测的开源便捷方法

Huang, Sunny C; Pak, Thomas K; Graber, Cameron P; Searby, Charles C; Liu, Guanghao; Marcy, Jennifer; Yaszemski, Alexandra K; Bedell, Kurt; Bui, Emily; Perlman, Stanley; Zhang, Qihong; Wang, Kai; Sheffield, Val C; Carter, Calvin S

A mouse model of Bardet-Biedl Syndrome has impaired fear memory, which is rescued by lithium treatment

患有巴德-比德尔综合征的小鼠模型表现出恐惧记忆受损,而锂治疗可以挽救这种缺陷。

Pak, Thomas K; Carter, Calvin S; Zhang, Qihong; Huang, Sunny C; Searby, Charles; Hsu, Ying; Taugher, Rebecca J; Vogel, Tim; Cychosz, Christopher C; Genova, Rachel; Moreira, Nina N; Stevens, Hanna; Wemmie, John A; Pieper, Andrew A; Wang, Kai; Sheffield, Val C

Exome-based investigation of the genetic basis of human pigmentary glaucoma

基于外显子组学的人类色素性青光眼遗传基础研究

van der Heide, Carly; Goar, Wes; Meyer, Kacie J; Alward, Wallace L M; Boese, Erin A; Sears, Nathan C; Roos, Ben R; Kwon, Young H; DeLuca, Adam P; Siggs, Owen M; Gonzaga-Jauregui, Claudia; Sheffield, Val C; Wang, Kai; Stone, Edwin M; Mullins, Robert F; Anderson, Michael G; Fan, Bao Jian; Ritch, Robert; Craig, Jamie E; Wiggs, Janey L; Scheetz, Todd E; Fingert, John H

Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model.

Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove 小鼠模型的基因型和表型特征

Weihbrecht Katie, Goar Wesley A, Carter Calvin S, Sheffield Val C, Seo Seongjin

The molecular genetics of eye diseases

眼病的分子遗传学

Haines, Jonathan L; Sheffield, Val C

A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis

纯合Nme7突变与全内脏反位相关

Reish, Orit; Aspit, Liam; Zouella, Arielle; Roth, Yehudah; Polak-Charcon, Sylvie; Baboushkin, Tatiana; Benyamini, Lilach; Scheetz, Todd E; Mussaffi, Huda; Sheffield, Val C; Parvari, Ruti