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

Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease

NMNAT1-Leber先天性黑蒙症(LCA9)的小鼠模型重现了人类疾病的关键特征

Greenwald, Scott H; Charette, Jeremy R; Staniszewska, Magdalena; Shi, Lan Ying; Brown, Steve D M; Stone, Lisa; Liu, Qin; Hicks, Wanda L; Collin, Gayle B; Bowl, Michael R; Krebs, Mark P; Nishina, Patsy M; Pierce, Eric A

Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.

小鼠 Adamtsl4 基因的破坏会导致晶状体悬韧带脱离晶状体,并导致视网膜色素上皮去分化

Collin Gayle B, Hubmacher Dirk, Charette Jeremy R, Hicks Wanda L, Stone Lisa, Yu Minzhong, Naggert Jürgen K, Krebs Mark P, Peachey Neal S, Apte Suneel S, Nishina Patsy M

Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs.

对出生后 Mfrprd6 突变体眼睛的基因分析显示 Prss56、视觉循环和光转导 mRNA 的积累存在差异

Soundararajan Ramani, Won Jungyeon, Stearns Timothy M, Charette Jeremy R, Hicks Wanda L, Collin Gayle B, Naggert Jürgen K, Krebs Mark P, Nishina Patsy M

NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development

NPHP4对于维持正常的感光细胞带状突触和外节形成以及精子发育是必需的。

Won, Jungyeon; Marín de Evsikova, Caralina; Smith, Richard S; Hicks, Wanda L; Edwards, Malia M; Longo-Guess, Chantal; Li, Tiansen; Naggert, Jürgen K; Nishina, Patsy M

Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation.

Lama1基因突变会破坏视网膜血管发育和内界膜形成

Edwards Malia M, Mammadova-Bach Elmina, Alpy Fabien, Klein Annick, Hicks Wanda L, Roux Michel, Simon-Assmann Patricia, Smith Richard S, Orend Gertraud, Wu Jiang, Peachey Neal S, Naggert Jürgen K, Lefebvre Olivier, Nishina Patsy M

Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments

膜卷曲相关蛋白对于感光细胞外节的正常发育和维持是必需的。

Won, Jungyeon; Smith, Richard S; Peachey, Neal S; Wu, Jiang; Hicks, Wanda L; Naggert, Jürgen K; Nishina, Patsy M