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Select item 109811641.

Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation

Min Liu, Erkuan Dai, Mu Yang, Shujin Li, Lin Fan, Yining Liu, Haodong Xiao, Peiquan Zhao, Zhenglin Yang

Invest Ophthalmol Vis Sci. 2024 Mar; 65(3): 31. Published online 2024 Mar 22. doi: 10.1167/iovs.65.3.31

PMCID:: PMC10981164

Abstract Article PDF–6.2M

Select item 107676832.

Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree

Keke Jiang, Shuying Wang, Huixin Sun, Chuanzhi Peng, Nan Li, Shuchan Li, Rongyu Gao, Jie Zhang

Mol Genet Genomic Med. 2024 Jan; 12(1): e2345. Published online 2023 Dec 26. doi: 10.1002/mgg3.2345

PMCID:: PMC10767683

Abstract Article PDF–2.6M

Select item 103595073.

Li Huang, Limei Sun, Xiaoyu Li, Songshan Li, Ting Zhang, Zhaotian Zhang, Xiaoyan Ding

Br J Ophthalmol. 2023 Aug; 107(8): 1151–1155. Published online 2022 Mar 31. doi: 10.1136/bjophthalmol-2021-320084

PMCID:: PMC10359507

Abstract Article PDF–944K

Select item 101153614.

Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR

Duong Thu Trang, Nguyen Minh Phu, Do Manh Hung, Vu Phuong Nhung, Nguyen Ngan Ha, Ma Thi Huyen Thuong, Tran Thi Bich Ngoc, Nguyen Xuan Hiep, Nguyen Dang Ton, Nong Van Hai, Nguyen Hai Ha

Mol Vis. 2022; 28: 480–491. Published online 2022 Dec 21.

PMCID:: PMC10115361

Abstract Article PDF–4.4M

Select item 91080135.

Ocular manifestations of Chinese patients with copy number variants in the NDP gene

Li Huang, Linyan Zhang, Xiaoyu Li, Jinglin Lu, Limei Sun, Limei Chen, Xiaoyan Ding, Zhan Li

Mol Vis. 2022; 28: 29–38. Published online 2022 Mar 25.

PMCID:: PMC9108013

Abstract Article PDF–4.4M

Select item 87538946.

Ocular phenotype and genetical analysis in patients with retinopathy of prematurity

Tianchang Tao, Xianfen Meng, Ningda Xu, Jiarui Li, Yong Cheng, Yi Chen, Lvzhen Huang

BMC Ophthalmol. 2022; 22: 22. Published online 2022 Jan 12. doi: 10.1186/s12886-022-02252-x

PMCID:: PMC8753894

Abstract Article PDF–1023K

Select item 81650307.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 79546018.

Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling

Xianjun Zhu, Mu Yang, Peiquan Zhao, Shujin Li, Lin Zhang, Lulin Huang, Yi Huang, Ping Fei, Yeming Yang, Shanshan Zhang, Huijuan Xu, Ye Yuan, Xiang Zhang, Xiong Zhu, Shi Ma, Fang Hao, Periasamy Sundaresan, Weiquan Zhu, Zhenglin Yang

J Clin Invest. 2021 Mar 15; 131(6): e139869. Published online 2021 Mar 15. doi: 10.1172/JCI139869

PMCID:: PMC7954601

Abstract Article PDF–31M

Select item 78855869.

Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy

Li-Yun Jia, Kai Ma

BMC Ophthalmol. 2021; 21: 84. Published online 2021 Feb 15. doi: 10.1186/s12886-021-01852-3

PMCID:: PMC7885586

Abstract Article PDF–875K

Select item 757978510.

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report

Andrey V. Marakhonov, Irina A. Mishina, Vitaly V. Kadyshev, Svetlana A. Repina, Maria F. Shurygina, Olga A. Shchagina, Natalya N. Vasserman, Tatyana A. Vasilyeva, Sergey I. Kutsev, Rena A. Zinchenko

BMC Med Genet. 2020; 21(Suppl 1): 156. Published online 2020 Oct 22. doi: 10.1186/s12881-020-01093-z

PMCID:: PMC7579785

Abstract Article PDF–744K

Select item 732206711.

RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation

Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen

Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117

PMCID:: PMC7322067

Abstract Article PDF–2.7M

Select item 726003612.

Norrin mediates tumor-promoting and -suppressive effects in glioblastoma via Notch and Wnt

Ahmed El-Sehemy, Hayden Selvadurai, Arturo Ortin-Martinez, Neno Pokrajac, Yasin Mamatjan, Nobuhiko Tachibana, Katherine Rowland, Lilian Lee, Nicole Park, Kenneth Aldape, Peter Dirks, Valerie A. Wallace

J Clin Invest. 2020 Jun 1; 130(6): 3069–3086. Published online 2020 May 11. doi: 10.1172/JCI128994