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

A stable NTN1 fluorescent reporter chicken reveals cell specific molecular signatures during optic fissure closure.

稳定的 NTN1 荧光报告鸡揭示了视裂闭合过程中细胞特异性的分子特征

Ho Ching Chan Brian, Hardy Holly, Requena Teresa, Findlay Amy, Ioannidis Jason, Meunier Dominique, Toms Maria, Moosajee Mariya, Raper Anna, McGrew Mike J, Rainger Joe

Closing the Gap: Mechanisms of Epithelial Fusion During Optic Fissure Closure

弥合裂隙:视裂闭合过程中上皮融合的机制

Chan, Brian Ho Ching; Moosajee, Mariya; Rainger, Joe

The transcriptional signature associated with human motile cilia

与人类运动纤毛相关的转录特征

Patir, Anirudh; Fraser, Amy M; Barnett, Mark W; McTeir, Lynn; Rainger, Joe; Davey, Megan G; Freeman, Tom C

Arginine to Glutamine Variant in Olfactomedin Like 3 (OLFML3) Is a Candidate for Severe Goniodysgenesis and Glaucoma in the Border Collie Dog Breed

嗅觉介素样蛋白3 (OLFML3) 中的精氨酸到谷氨酰胺变异可能是边境牧羊犬严重房角发育不良和青光眼的候选致病基因。

Pugh, Carys A; Farrell, Lindsay L; Carlisle, Ailsa J; Bush, Stephen J; Ewing, Adam; Trejo-Reveles, Violeta; Matika, Oswald; de Kloet, Arne; Walsh, Caitlin; Bishop, Stephen C; Prendergast, James G D; Rainger, Joe; Schoenebeck, Jeffrey J; Summers, Kim M

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 recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

ACTG1基因中反复出现的新生突变会导致孤立性眼部缺损。

Rainger, Joe; Williamson, Kathleen A; Soares, Dinesh C; Truch, Julia; Kurian, Dominic; Gillessen-Kaesbach, Gabriele; Seawright, Anne; Prendergast, James; Halachev, Mihail; Wheeler, Ann; McTeir, Lynn; Gill, Andrew C; van Heyningen, Veronica; Davey, Megan G; 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

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

MAB21L2基因的单等位基因和双等位基因突变会导致一系列严重的眼部畸形。

Rainger, Joe; Pehlivan, Davut; Johansson, Stefan; Bengani, Hemant; Sanchez-Pulido, Luis; Williamson, Kathleen A; Ture, Mehmet; Barker, Heather; Rosendahl, Karen; Spranger, Jürgen; Horn, Denise; Meynert, Alison; Floyd, James A B; Prescott, Trine; Anderson, Carl A; Rainger, Jacqueline K; Karaca, Ender; Gonzaga-Jauregui, Claudia; Jhangiani, Shalini; Muzny, Donna M; Seawright, Anne; Soares, Dinesh C; Kharbanda, Mira; Murday, Victoria; Finch, Andrew; Gibbs, Richard A; van Heyningen, Veronica; Taylor, Martin S; Yakut, Tahsin; Knappskog, Per M; Hurles, Matthew E; Ponting, Chris P; Lupski, James R; Houge, Gunnar; FitzPatrick, David R