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

AAV2-PDE6B restores retinal structure and function in the retinal degeneration 10 mouse model of retinitis pigmentosa by promoting phototransduction and inhibiting apoptosis

AAV2-PDE6B通过促进光转导和抑制细胞凋亡,在视网膜色素变性小鼠模型中恢复视网膜结构和功能。

Ruiqi Qiu,Mingzhu Yang,Xiuxiu Jin,Jingyang Liu,Weiping Wang,Xiaoli Zhang,Jinfeng Han,Bo Lei

Identification and Characterization of Retinitis Pigmentosa in a Novel Mouse Model Caused by PDE6B-T592I

在由PDE6B-T592I引起的新型小鼠模型中鉴定和表征视网膜色素变性

Chun-Hong Xia,Haiquan Liu,Mei Li,Haiwei Zhang,Xinfang Xing,Xiaohua Gong

HDAC inhibition delays photoreceptor loss in Pde6b mutant mice of retinitis pigmentosa: insights from scRNA-seq and CUT&Tag

HDAC抑制剂可延缓视网膜色素变性Pde6b突变小鼠的光感受器丢失:来自单细胞RNA测序和CUT&Tag的见解

Yujie Dong #,Jie Yan # ,Wenrong Xu,François Paquet-Durand,Zhulin Hu,Kangwei Jiao

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family

巴基斯坦一个近亲结婚家族中,PDE6B基因中一种新的纯合错义突变p.Thr313Ile是导致常染色体隐性遗传性视网膜色素变性的致病原因。

Aziz, Nobia; Ullah, Mukhtar; Rashid, Abdur; Hussain, Zubair; Shah, Khadim; Awan, Azeem; Khan, Muhammad; Ullah, Inam; Rehman, Atta Ur

Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration

鉴定出PDE6B基因中一种新的大片段多基因缺失和移码插入/缺失突变是导致早发性隐性视杆细胞-视锥细胞变性的根本原因。

Sangermano, Riccardo; Biswas, Pooja; Sullivan, Lori S; Place, Emily M; Borooah, Shyamanga; Straubhaar, Juerg; Pierce, Eric A; Daiger, Stephen P; Bujakowska, Kinga M; Ayaggari, Radha

Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families

中国家族性视网膜色素变性患者中PDE6A和PDE6B基因的新变异及其表型

Li, Yuyu; Li, Ruyi; Dai, Hehua; Li, Genlin

Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa

PDE6B相关性视网膜色素变性的临床表型

Kuehlewein, Laura; Zobor, Ditta; Stingl, Katarina; Kempf, Melanie; Nasser, Fadi; Bernd, Antje; Biskup, Saskia; Cremers, Frans P M; Khan, Muhammad Imran; Mazzola, Pascale; Schäferhoff, Karin; Heinrich, Tilman; Haack, Tobias B; Wissinger, Bernd; Zrenner, Eberhart; Weisschuh, Nicole; Kohl, Susanne

Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients

韩国患者中与PDE6B基因突变相关的视网膜色素变性的临床特征和疾病进展

Kim, You Na; Song, Joon Seon; Oh, Seak Hee; Kim, Yoon Jeon; Yoon, Young Hee; Seo, Eul-Ju; Seol, Chang Ahn; Lee, Sae-Mi; Choi, Jong-Moon; Seo, Go Hun; Keum, Changwon; Lee, Beom Hee; Lee, Joo Yong

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B

与PDE6A和PDE6B基因突变相关的视杆细胞-视锥细胞营养不良患者的纵向临床随访和遗传谱

Khateb, Samer; Nassisi, Marco; Bujakowska, Kinga M; Méjécase, Cécile; Condroyer, Christel; Antonio, Aline; Foussard, Marine; Démontant, Vanessa; Mohand-Saïd, Saddek; Sahel, José-Alain; Zeitz, Christina; Audo, Isabelle

Synthetic Peptides to Target Stringent Response-Controlled Virulence in a Pseudomonas aeruginosa Murine Cutaneous Infection Model

合成肽靶向严格反应控制的毒力在铜绿假单胞菌小鼠皮肤感染模型中

Daniel Pletzer, Heidi Wolfmeier, Manjeet Bains, Robert E W Hancock