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Select item 111231951.

Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients

Marco Piergentili, Vito Spagnuolo, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Ilaria Passerini, Elisabetta Pelo, Fabrizio Giansanti, Gianni Virgili, Andrea Sodi

Medicina (Kaunas) 2024 May; 60(5): 797. Published online 2024 May 11. doi: 10.3390/medicina60050797

PMCID:: PMC11123195

Abstract Article PDF–11M

Select item 109332672.

Interaction network of human early embryonic transcription factors

Lisa Gawriyski, Zenglai Tan, Xiaonan Liu, Iftekhar Chowdhury, Dicle Malaymar Pinar, Qin Zhang, Jere Weltner, Eeva-Mari Jouhilahti, Gong-Hong Wei, Juha Kere, Markku Varjosalo

EMBO Rep. 2024 Mar; 25(3): 1589–1622. Published online 2024 Jan 31. doi: 10.1038/s44319-024-00074-0

PMCID:: PMC10933267

Abstract Article PDF–2.9M

Select item 98519733.

A comprehensive SARS-CoV-2–human protein–protein interactome reveals COVID-19 pathobiology and potential host therapeutic targets

Yadi Zhou, Yuan Liu, Shagun Gupta, Mauricio I. Paramo, Yuan Hou, Chengsheng Mao, Yuan Luo, Julius Judd, Shayne Wierbowski, Marta Bertolotti, Mriganka Nerkar, Lara Jehi, Nir Drayman, Vlad Nicolaescu, Haley Gula, Savaş Tay, Glenn Randall, Peihui Wang, John T. Lis, Cédric Feschotte, Serpil C. Erzurum, Feixiong Cheng, Haiyuan Yu

Nat Biotechnol. Author manuscript; available in PMC 2023 Jan 20.

Published in final edited form as: Nat Biotechnol. 2023 Jan; 41(1): 128–139. Published online 2022 Oct 10. doi: 10.1038/s41587-022-01474-0

PMCID:: PMC9851973

Abstract Article PDF–4.0M

Select item 85808874.

Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model

Kathleen R. Chirco, Shereen Chew, Anthony T. Moore, Jacque L. Duncan, Deepak A. Lamba

Stem Cell Reports. 2021 Nov 9; 16(11): 2690–2702. Published online 2021 Oct 14. doi: 10.1016/j.stemcr.2021.09.007

PMCID:: PMC8580887

Abstract Article PDF–8.2M

Select item 80090485.

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 72932726.

Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association

Yu Fujinami-Yokokawa, Kaoru Fujinami, Kazuki Kuniyoshi, Takaaki Hayashi, Shinji Ueno, Atsushi Mizota, Kei Shinoda, Gavin Arno, Nikolas Pontikos, Lizhu Yang, Xiao Liu, Hiroyuki Sakuramoto, Satoshi Katagiri, Kei Mizobuchi, Taro Kominami, Hiroko Terasaki, Natsuko Nakamura, Shuhei Kameya, Kazutoshi Yoshitake, Yozo Miyake, Toshihide Kurihara, Kazuo Tsubota, Hiroaki Miyata, Takeshi Iwata, Kazushige Tsunoda, Japan Eye Genetics Consortium

Sci Rep. 2020; 10: 9531. Published online 2020 Jun 12. doi: 10.1038/s41598-020-65737-z

PMCID:: PMC7293272

Abstract Article PDF–2.5M

Select item 71699837.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 67687648.

A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants

Charles J. Wolock, Nicholas Stong, Chu Jian Ma, Takayuki Nagasaki, Winston Lee, Stephen H. Tsang, Sitharthan Kamalakaran, David B. Goldstein, Rando Allikmets

Genet Med. Author manuscript; available in PMC 2019 Oct 4.

Published in final edited form as: Genet Med. 2019 Oct; 21(10): 2336–2344. Published online 2019 Mar 30. doi: 10.1038/s41436-019-0495-0

PMCID:: PMC6768764

Abstract Article PDF–585K

Select item 67426469.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 636868010.

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 631495711.

An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders

Siwei Chen, Robert Fragoza, Lambertus Klei, Yuan Liu, Jiebiao Wang, Kathryn Roeder, Bernie Devlin, Haiyuan Yu

Nat Genet. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Nat Genet. 2018 Jul; 50(7): 1032–1040. Published online 2018 Jun 11. doi: 10.1038/s41588-018-0130-z

PMCID:: PMC6314957

Abstract Article PDF–1.3M

Select item 613359812.

A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report

Lihua Wang, Anhui Qi, Hong Pan, Beihong Liu, Jingjing Feng, Wei Chen, Binbin Wang

Medicine (Baltimore) 2018 Aug; 97(32): e11499. Published online 2018 Aug 10. doi: 10.1097/MD.0000000000011499

PMCID:: PMC6133598

Abstract Article PDF–943K

Select item 586484113.

A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis

M. T. Ibrahim, T. Alarcon-Martinez, I. Lopez, N. Fajardo, J. Chiang, R. K. Koenekoop

Sci Rep. 2018; 8: 5034. Published online 2018 Mar 22. doi: 10.1038/s41598-018-22704-z

PMCID:: PMC5864841

Abstract Article PDF–3.0M

Select item 506215714.

Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa

M. Corton, A. Avila-Fernández, L. Campello, M. Sánchez, B. Benavides, M. I. López-Molina, L. Fernández-Sánchez, R. Sánchez-Alcudia, L. R. J. da Silva, N. Reyes, E. Martín-Garrido, O. Zurita, P. Fernández-San José, R. Pérez-Carro, F. García-García, J. Dopazo, B. García-Sandoval, N. Cuenca, C. Ayuso

Sci Rep. 2016; 6: 35370. Published online 2016 Oct 13. doi: 10.1038/srep35370

PMCID:: PMC5062157

Abstract Article PDF–1.6M

Select item 501438515.

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 488219016.

Widespread expansion of protein interaction capabilities by alternative splicing

Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal

Cell. Author manuscript; available in PMC 2017 Feb 11.

Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029

PMCID:: PMC4882190

Abstract Article PDF–1.9M

Select item 484876217.

Pooled‐matrix protein interaction screens using Barcode Fusion Genetics

Nozomu Yachie, Evangelia Petsalaki, Joseph C Mellor, Jochen Weile, Yves Jacob, Marta Verby, Sedide B Ozturk, Siyang Li, Atina G Cote, Roberto Mosca, Jennifer J Knapp, Minjeong Ko, Analyn Yu, Marinella Gebbia, Nidhi Sahni, Song Yi, Tanya Tyagi, Dayag Sheykhkarimli, Jonathan F Roth, Cassandra Wong, Louai Musa, Jamie Snider, Yi‐Chun Liu, Haiyuan Yu, Pascal Braun, Igor Stagljar, Tong Hao, Michael A Calderwood, Laurence Pelletier, Patrick Aloy, David E Hill, Marc Vidal, Frederick P Roth

Mol Syst Biol. 2016 Apr; 12(4): 863. Published online 2016 Apr 23. doi: 10.15252/msb.20156660

PMCID:: PMC4848762

Abstract Article PDF–2.8M

Select item 484875818.

An inter‐species protein–protein interaction network across vast evolutionary distance

Quan Zhong, Samuel J Pevzner, Tong Hao, Yang Wang, Roberto Mosca, Jörg Menche, Mikko Taipale, Murat Taşan, Changyu Fan, Xinping Yang, Patrick Haley, Ryan R Murray, Flora Mer, Fana Gebreab, Stanley Tam, Andrew MacWilliams, Amélie Dricot, Patrick Reichert, Balaji Santhanam, Lila Ghamsari, Michael A Calderwood, Thomas Rolland, Benoit Charloteaux, Susan Lindquist, Albert‐László Barabási, David E Hill, Patrick Aloy, Michael E Cusick, Yu Xia, Frederick P Roth, Marc Vidal

Mol Syst Biol. 2016 Apr; 12(4): 865. Published online 2016 Apr 23. doi: 10.15252/msb.20156484

PMCID:: PMC4848758

Abstract Article PDF–2.1M

Select item 483234519.

Using Zinc Finger Nuclease Technology to Generate CRX‐Reporter Human Embryonic Stem Cells as a Tool to Identify and Study the Emergence of Photoreceptors Precursors During Pluripotent Stem Cell Differentiation

Joseph Collin, Carla B Mellough, Birthe Dorgau, Stefan Przyborski, Inmaculada Moreno‐Gimeno, Majlinda Lako

Stem Cells. 2016 Feb; 34(2): 311–321. Published online 2015 Nov 26. doi: 10.1002/stem.2240

PMCID:: PMC4832345

Abstract Article PDF–838K

Select item 444121520.

Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders

Nidhi Sahni, Song Yi, Mikko Taipale, Juan I. Fuxman Bass, Jasmin Coulombe-Huntington, Fan Yang, Jian Peng, Jochen Weile, Georgios I. Karras, Yang Wang, István A. Kovács, Atanas Kamburov, Irina Krykbaeva, Mandy H. Lam, George Tucker, Vikram Khurana, Amitabh Sharma, Yang-Yu Liu, Nozomu Yachie, Quan Zhong, Yun Shen, Alexandre Palagi, Adriana San-Miguel, Changyu Fan, Dawit Balcha, Amelie Dricot, Daniel M. Jordan, Jennifer M. Walsh, Akash A. Shah, Xinping Yang, Ani Stoyanova, Alex Leighton, Michael A. Calderwood, Yves Jacob, Michael E. Cusick, Kourosh Salehi-Ashtiani, Luke J. Whitesell, Shamil Sunyaev, Bonnie Berger, Albert-László Barabási, Benoit Charloteaux, David E. Hill, Tong Hao, Frederick P. Roth, Yu Xia, Albertha J.M. Walhout, Susan Lindquist, Marc Vidal

Cell. Author manuscript; available in PMC 2016 Apr 23.

Published in final edited form as: Cell. 2015 Apr 23; 161(3): 647–660. doi: 10.1016/j.cell.2015.04.013