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

Autophagy disruption and mitochondrial stress precede photoreceptor necroptosis in multiple mouse models of inherited retinal disorders.

在多种遗传性视网膜疾病的小鼠模型中,自噬破坏和线粒体应激先于感光细胞坏死

Newton Fay, Halachev Mihail, Nguyen Linda, McKie Lisa, Mill Pleasantine, Megaw Roly

A Dominant Mutation in G(α)s-Protein Increases Hair Pigmentation

G(α)s蛋白的显性突变会增加毛发色素沉着

Goff, Philip S; Budd, Peter; Logan, Darren W; Keighren, Margaret; Cantero, Marta; McKie, Lisa; Montoliu, Lluis; Jackson, Ian J; Sviderskaya, Elena V

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

更正:BMP拮抗剂SMOC-1的缺失会导致人类和小鼠出现眼肢端畸形(瓦尔登堡无眼症)综合征

Rainger, Joe; van Beusekom, Ellen; Ramsay, Jacqueline K; McKie, Lisa; Al-Gazali, Lihadh; Pallotta, Rosanna; Saponari, Anita; Branney, Peter; Fisher, Malcolm; Morrison, Harris; Bicknell, Louise; Gautier, Philippe; Perry, Paul; Sokhi, Kishan; Sexton, David; Bardakjian, Tanya M; Schneider, Adele S; Elcioglu, Nursel; Ozkinay, Ferda; Koenig, Rainer; Mégarbané, Andre; Semerci, C Nur; Khan, Ayesha; Zafar, Saemah; Hennekam, Raoul; Sousa, Sérgio B; Ramos, Lina; Garavelli, Livia; Furga, Andrea Superti; Wischmeijer, Anita; Jackson, Ian J; Gillessen-Kaesbach, Gabriele; Brunner, Han G; Wieczorek, Dagmar; van Bokhoven, Hans; FitzPatrick, David R

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

ITPR1基因中特定类型的新生突变会导致吉莱斯皮综合征,并有证据表明其具有显性负效应。

McEntagart, Meriel; Williamson, Kathleen A; Rainger, Jacqueline K; Wheeler, Ann; Seawright, Anne; De Baere, Elfride; Verdin, Hannah; Bergendahl, L Therese; Quigley, Alan; Rainger, Joe; Dixit, Abhijit; Sarkar, Ajoy; López Laso, Eduardo; Sanchez-Carpintero, Rocio; Barrio, Jesus; Bitoun, Pierre; Prescott, Trine; Riise, Ruth; McKee, Shane; Cook, Jackie; McKie, Lisa; Ceulemans, Berten; Meire, Françoise; Temple, I Karen; Prieur, Fabienne; Williams, Jonathan; Clouston, Penny; Németh, Andrea H; Banka, Siddharth; Bengani, Hemant; Handley, Mark; Freyer, Elisabeth; Ross, Allyson; van Heyningen, Veronica; Marsh, Joseph A; Elmslie, Frances; FitzPatrick, David R

Mouse slc9a8 mutants exhibit retinal defects due to retinal pigmented epithelium dysfunction

小鼠slc9a8突变体由于视网膜色素上皮功能障碍而表现出视网膜缺陷。

Jadeja, Shalini; Barnard, Alun R; McKie, Lisa; Cross, Sally H; White, Jacqueline K; Robertson, Morag; Budd, Peter S; MacLaren, Robert E; Jackson, Ian J

Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases

杂合子FlnaDilp2/+雌性小鼠角膜中正常的X染色体失活嵌合现象——人类丝状蛋白A(FLNA)疾病模型

Douvaras, Panagiotis; Liu, Weijia; Mort, Richard L; McKie, Lisa; West, Katrine M; Cross, Sally H; Morley, Steven D; West, John D

Diphthamide modification of eEF2 requires a J-domain protein and is essential for normal development

二磷酰胺对 eEF2 的修饰需要 J 结构域蛋白,并且对正常发育至关重要。

Webb, Tom R; Cross, Sally H; McKie, Lisa; Edgar, Ruth; Vizor, Lucie; Harrison, Jackie; Peters, Jo; Jackson, Ian J