PMC Links for GEO Profiles (Select 114765422) - PMC

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Items: 20

Select item 91224741.

Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa

Mohammed E. El-Asrag, Marta Corton, Martin McKibbin, Almudena Avila-Fernandez, Moin D. Mohamed, Fiona Blanco-Kelly, Carmel Toomes, Chris F. Inglehearn, Carmen Ayuso, Manir Ali

Mol Vis. 2022; 28: 48–56. Published online 2022 May 17.

PMCID:: PMC9122474

Abstract Article PDF–2.1M

Select item 84386152.

NRL^−/− gene edited human embryonic stem cells generate rod‐deficient retinal organoids enriched in S‐cone‐like photoreceptors

Elisa Cuevas, Daniel L. Holder, Ashwak H. Alshehri, Julie Tréguier, Jörn Lakowski, Jane C. Sowden

Stem Cells. 2021 Apr; 39(4): 414–428. Published online 2021 Jan 19. doi: 10.1002/stem.3325

PMCID:: PMC8438615

Abstract Article PDF–17M

Select item 80459323.

A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition

Yahya Benslimane, María Sánchez‐Osuna, Jasmin Coulombe‐Huntington, Thierry Bertomeu, Danielle Henry, Caroline Huard, Éric Bonneil, Pierre Thibault, Mike Tyers, Lea Harrington

Aging Cell. 2021 Apr; 20(4): e13331. Published online 2021 Mar 4. doi: 10.1111/acel.13331

PMCID:: PMC8045932

Abstract Article PDF–1.9M

Select item 80090484.

Impact of cytosine methylation on DNA binding specificities of human transcription factors

Yimeng Yin, Ekaterina Morgunova, Arttu Jolma, Eevi Kaasinen, Biswajyoti Sahu, Syed Khund-Sayeed, Pratyush K. Das, Teemu Kivioja, Kashyap Dave, Fan Zhong, Kazuhiro R. Nitta, Minna Taipale, Alexander Popov, Paul A. Ginno, Silvia Domcke, Jian Yan, Dirk Schübeler, Charles Vinson, Jussi Taipale

Science. Author manuscript; available in PMC 2021 Mar 30.

Published in final edited form as: Science. 2017 May 5; 356(6337): eaaj2239. doi: 10.1126/science.aaj2239

PMCID:: PMC8009048

Abstract Article PDF–2.6M

Select item 70352455.

Investigating cone photoreceptor development using patient-derived NRL null retinal organoids

Alyssa Kallman, Elizabeth E. Capowski, Jie Wang, Aniruddha M. Kaushik, Alex D. Jansen, Kimberly L. Edwards, Liben Chen, Cynthia A. Berlinicke, M. Joseph Phillips, Eric A. Pierce, Jiang Qian, Tza-Huei Wang, David M. Gamm, Donald J. Zack

Commun Biol. 2020; 3: 82. Published online 2020 Feb 21. doi: 10.1038/s42003-020-0808-5

PMCID:: PMC7035245

Abstract Article PDF–7.0M

Select item 63686806.

NRL and CRX define photoreceptor identity and reveal subgroup-specific dependencies in medulloblastoma

Alexandra Garancher, Charles Y. Lin, Morgane Morabito, Wilfrid Richer, Nathalie Rocques, Magalie Larcher, Laure Bihannic, Kyle Smith, Catherine Miquel, Sophie Leboucher, Nirmitha I. Herath, Fanny Dupuy, Pascale Varlet, Christine Haberler, Christine Walczak, Nadine El Tayara, Andreas Volk, Stéphanie Puget, François Doz, Olivier Delattre, Sabine Druillennec, Olivier Ayrault, Robert J. Wechsler-Reya, Alain Eychène, Franck Bourdeaut, Paul A. Northcott, Celio Pouponnot

Cancer Cell. Author manuscript; available in PMC 2019 Feb 9.

Published in final edited form as: Cancer Cell. 2018 Mar 12; 33(3): 435–449.e6. doi: 10.1016/j.ccell.2018.02.006

PMCID:: PMC6368680

Abstract Article PDF–1.5M

Select item 54373317.

Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing

Y Qin, F Liu, S Yu, L Yang, M Gao, Z Tang, A Y Guo, M Zhang, P Li, M Liu

Eye (Lond) 2017 May; 31(5): 815–817. Published online 2017 Jan 20. doi: 10.1038/eye.2016.327

PMCID:: PMC5437331

Article PDF–151K

Select item 51317318.

NRL-Regulated Transcriptome Dynamics of Developing Rod Photoreceptors

Jung-Woong Kim, Hyun-Jin Yang, Matthew John Brooks, Lina Zelinger, Gökhan Karakülah, Norimoto Gotoh, Alexis Boleda, Linn Gieser, Felipe Giuste, Dustin Thad Whitaker, Ashley Walton, Rafael Villasmil, Jennifer J. Barb, Peter Jonathan Munson, Koray Dogan Kaya, Vijender Chaitankar, Tiziana Cogliati, Anand Swaroop

Cell Rep. Author manuscript; available in PMC 2016 Dec 1.

Published in final edited form as: Cell Rep. 2016 Nov 22; 17(9): 2460–2473. doi: 10.1016/j.celrep.2016.10.074

PMCID:: PMC5131731

Abstract Article PDF–3.0M

Select item 50143859.

Differential dimerization of variants linked to enhanced S-Cone Sensitivity Syndrome (ESCS) located in the NR2E3 ligand-binding domain

Désirée von Alpen, H. Viet Tran, Nicolas Guex, Giulia Venturini, Francis L. Munier, Daniel F. Schorderet, Neena B. Haider, Pascal Escher

Hum Mutat. Author manuscript; available in PMC 2016 Sep 7.

Published in final edited form as: Hum Mutat. 2015 Jun; 36(6): 599–610. Published online 2015 Apr 27. doi: 10.1002/humu.22775

PMCID:: PMC5014385

Abstract Article PDF–1.4M

Select item 481252910.

Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa

Meng Gao, Su Zhang, Chunjie Liu, Yayun Qin, Stephen Archacki, Ling Jin, Yong Wang, Fei Liu, Jiaxiang Chen, Ying Liu, Jiuxiang Wang, Mi Huang, Shengjie Liao, Zhaohui Tang, An Yuan Guo, Fagang Jiang, Mugen Liu

Mol Vis. 2016; 22: 234–242. Published online 2016 Mar 18.