PMC Links for Gene (Select 4693) - PMC

Result Filters

Links from Gene

Items: 1 to 20 of 39

<< First< Prev

Page of 2

Next >Last >>

Select item 107676831.

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

Article PDF–2.6M

Select item 103595072.

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

Article PDF–944K

Select item 91080133.

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

Article PDF–4.4M

Select item 78855864.

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

Article PDF–875K

Select item 75797855.

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

Article PDF–744K

Select item 72600366.

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

PMCID:: PMC7260036

Article PDF–16M

Select item 57005857.

Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease

Xiaoyan Huang, Mao Tian, Jiankang Li, Ling Cui, Min Li, Jianguo Zhang

Indian J Ophthalmol. 2017 Nov; 65(11): 1161–1165. doi: 10.4103/ijo.IJO_442_17

PMCID:: PMC5700585

Article PDF–1.4M

Select item 48722818.

Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR

Ganeswara Rao Musada, Subhadra Jalali, Anjli Hussain, Anupama Reddy Chururu, Pramod Reddy Gaddam, Subhabrata Chakrabarti, Inderjeet Kaur

Mol Vis. 2016; 22: 491–502. Published online 2016 May 16.

PMCID:: PMC4872281

Article PDF–4.4M

Select item 47571329.

Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene

Seyedmehdi Payabvash, Jill S Anderson, David R Nascene

Neuroradiol J. 2015 Dec; 28(6): 623–627. doi: 10.1177/1971400915609350

PMCID:: PMC4757132

Article

Select item 408809410.

A novel signaling pathway regulates colon cancer angiogenesis through Norrin

Kestutis Planutis, Marina Planutiene, Randall F. Holcombe

Sci Rep. 2014; 4: 5630. Published online 2014 Jul 9. doi: 10.1038/srep05630

PMCID:: PMC4088094

Article PDF–2.4M

Select item 300297011.

A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease

Deyuan Liu, Zhengmao Hu, Yu Peng, Changhong Yu, Yalan Liu, Xiaoyun Mo, Xiaoping Li, Lina Lu, Xiaojuan Xu, Wei Su, Qian Pan, Kun Xia

Mol Vis. 2010; 16: 2653–2658. Published online 2010 Dec 8.

PMCID:: PMC3002970

Article PDF–2.4M

Select item 173478612.

De novo mutations in the 5' regulatory region of the Norrie disease gene in retinopathy of prematurity

S Talks, N. Ebenezer, P. Hykin, G. Adams, F. Yang, E Schulenberg, K. Gregory-Evans, C. Gregory-Evans

J Med Genet. 2001 Dec; 38(12): e46. doi: 10.1136/jmg.38.12.e46

PMCID:: PMC1734786

Summary PDF–181K

Select item 1098116413.

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

Article PDF–6.2M

Select item 720172114.

Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/β-Catenin Signaling Pathway

Shuai Han, Junhui Sun, Liwei Yang, Ming Qi

Biomed Res Int. 2020; 2020: 7681926. Published online 2020 Apr 27. doi: 10.1155/2020/7681926

PMCID:: PMC7201721

Article PDF–2.4M

Select item 663254015.

Norrin Promotes Vascular Regrowth after Oxygen-Induced Retinal Vessel Loss and Suppresses Retinopathy in Mice

Andreas Ohlmann, Roswitha Seitz, Barbara Braunger, David Seitz, Michael R. Bösl, Ernst R. Tamm

J Neurosci. 2010 Jan 6; 30(1): 183–193. doi: 10.1523/JNEUROSCI.3210-09.2010

PMCID:: PMC6632540

Article PDF–1.7M

Select item 637737616.

Variable reduction in Norrin signaling activity caused by novel mutations in FZD4 identified in patients with familial exudative vitreoretinopathy

Tian Tian, Xiang Zhang, Qi Zhang, Peiquan Zhao

Mol Vis. 2019; 25: 60–69. Published online 2019 Feb 7.

PMCID:: PMC6377376

Article PDF–3.3M

Select item 449740917.

Structure and functional properties of Norrin mimic Wnt for signalling with Frizzled4, Lrp5/6, and proteoglycan

Tao-Hsin Chang, Fu-Lien Hsieh, Matthias Zebisch, Karl Harlos, Jonathan Elegheert, E Yvonne Jones

eLife. 2015; 4: e06554. Published online 2015 Jul 9. doi: 10.7554/eLife.06554

PMCID:: PMC4497409

Article PDF–6.5M

Select item 382851718.

Structure and function of Norrin in assembly and activation of a Frizzled 4–Lrp5/6 complex

Jiyuan Ke, Kaleeckal G. Harikumar, Clara Erice, Chen Chen, Xin Gu, Liren Wang, Naomi Parker, Zhihong Cheng, Wenqing Xu, Bart O. Williams, Karsten Melcher, Laurence J. Miller, H. Eric Xu

Genes Dev. 2013 Nov 1; 27(21): 2305–2319. doi: 10.1101/gad.228544.113