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

Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos

MYRF基因的剪接变异会导致视网膜色素上皮细胞部分功能丧失,从而导致小眼球症。

Rozumek, Gabrielle M; Brinkmeier, Michelle L; Guan, Bin; Wang, Su Qing; Tower, Catherine; Yang, Nina T; Lim, Rachel S; Kong, Dejuan; Soden, Daniel; Zhang, Qitao; Han, John Ys; Miller, Jason Ml; Dong, Lijin; Hannum, D Ford; Moroi, Sayoko E; Richards, Julia E; Hufnagel, Robert B; Prasov, Lev

CRISPR Base Editing Correction of TGFBI Mutations in Autosomal Dominant Corneal Dystrophies

利用 CRISPR 碱基编辑技术纠正常染色体显性角膜营养不良症中的 TGFBI 突变

Chen, Jue; Davison, Connor W; Ellis, James; Blevins, Bridget; Presley, William; Myers, Mason T; Kong, Dejuan; Hou, Zhonggang; Mian, Shahzad I; Prasov, Lev; Zhang, Yan

FOXP4 Variants Are Associated With Plateau Iris and Angle Closure Glaucoma.

FOXP4 变异与虹膜高原症和闭角型青光眼相关

Presley William, Wang Su Qing, Guan Bin, Jeong Seong Hoon, Bender Chelsea, Ward Erika, Johnson Kayla, Blevins Bridget, Michaels Natalie, Shah Manjool, Moroi Sayoko E, Hufnagel Robert B, Richards Julia E, Prasov Lev

Myelin regulatory factor (MYRF) is a critical early regulator of retinal pigment epithelial development.

髓鞘调节因子(MYRF)是视网膜色素上皮发育的关键早期调节因子

Brinkmeier Michelle L, Wang Su Qing, Pittman Hannah A, Cheung Leonard Y, Prasov Lev

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders

神经病变靶酯酶活性决定了PNPLA6疾病的表型

Liu, James; He, Yi; Lwin, Cara; Han, Marina; Guan, Bin; Naik, Amelia; Bender, Chelsea; Moore, Nia; Huryn, Laryssa A; Sergeev, Yuri V; Qian, Haohua; Zeng, Yong; Dong, Lijin; Liu, Pinghu; Lei, Jingqi; Haugen, Carl J; Prasov, Lev; Shi, Ruifang; Dollfus, Hélène; Aristodemou, Petros; Laich, Yannik; Németh, Andrea H; Taylor, John; Downes, Susan; Krawczynski, Maciej R; Meunier, Isabelle; Strassberg, Melissa; Tenney, Jessica; Gao, Josephine; Shear, Matthew A; Moore, Anthony T; Duncan, Jacque L; Menendez, Beatriz; Hull, Sarah; Vincent, Andrea L; Siskind, Carly E; Traboulsi, Elias I; Blackstone, Craig; Sisk, Robert A; Miraldi Utz, Virginia; Webster, Andrew R; Michaelides, Michel; Arno, Gavin; Synofzik, Matthis; Hufnagel, Robert B

Microbubble Contrast Agents Improve Detection of Active Hemorrhage

微泡造影剂可提高活动性出血的检出率

Schoen, Scott Jr; Prasov, Alexis; Candel, Ion; Arshad, Saaid; Ottensmeyer, Mark; Pierce, Theodore T; Brattain, Laura J; Telfer, Brian A; Samir, Anthony E

Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis

MYRF相关心脏泌尿生殖系统综合征的胎儿表现:一种新兴且具有挑战性的产前诊断

Favier, Maud; Brischoux-Boucher, Elise; Pyle, Louise C; Mottet, Nicolas; Auber-Lenoir, Marion; Cattin, Julie; Dahlen, Eric; Cabrol, Christelle; Arbez-Gindre, Francine; Attié-Bitach, Tania; Boute, Odile; Devisme, Louise; Trost, Detlef; Boughalem, Aicha; Chitayat, David; Prasov, Lev; Chorin, Odelia; Rein-Rothschild, Annick; Kassif, Eran; Weissbach, Tal; Hendon, Laura Godfrey; Adam, Margaret P; Quelin, Chloé; Jaillard, Sylvie; Mary, Laura; Aukema, Sietse M; Heijligers, Malou; de Die-Smulders, Christine; Stegmann, Sander; Badalato, Lauren; Ben-Yehuda, Adi; Beneteau, Claire; Forey, Pierre-Louis; Kuentz, Paul; Piard, Juliette

Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family

在SPTLC2携带者HSAN1家族中,特定脱氧神经酰胺种类与2型黄斑毛细血管扩张症(MacTel2)的表达相关。

Wilson, Lindsey M Q; Saba, Sadaf; Li, Jun; Prasov, Lev; Miller, Jason M L

Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic

新型多学科眼科遗传诊所的设计与成果

Parekh, Bela; Beil, Adelyn; Blevins, Bridget; Jacobson, Adam; Williams, Pamela; Innis, Jeffrey W; Barone Pritchard, Amanda; Prasov, Lev

DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation

DDX58(RIG-I)相关疾病与组织特异性干扰素通路激活有关

Lev Prasov, Brenda L Bohnsack, Antonette S El Husny, Lam C Tsoi, Bin Guan, J Michelle Kahlenberg, Edmundo Almeida, Haitao Wang, Edward W Cowen, Adriana A De Jesus, Priyam Jani, Allison C Billi, Sayoko E Moroi, Rachael Wasikowski, Izabela Almeida, Luciana N Almeida, Fernando Kok, Sarah J Garnai, Shah