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Items: 1 to 20 of 34

1.
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations
Che-Yuan Kuo, Ming-Yi Chung, Shih-Jen Chen
J Med Genet. 2023 Sep; 60(9): 859–865. Published online 2023 Jan 23. doi: 10.1136/jmg-2022-108918
PMCID:
PMC10447408
AbstractArticlePDF–1.2M
2.
Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy
Junwen Wang, Yingwei Wang, Shiqiang Li, Xueshan Xiao, Zhen Yi, Yi Jiang, Xueqing Li, Xiaoyun Jia, Panfeng Wang, Chenjin Jin, Wenmin Sun, Qingjiong Zhang
Invest Ophthalmol Vis Sci. 2022 Aug; 63(9): 24. Published online 2022 Aug 22. doi: 10.1167/iovs.63.9.24
PMCID:
PMC9419460
AbstractArticlePDF–4.8M
3.
CFTR interactome mapping using the mammalian membrane two‐hybrid high‐throughput screening system
Sang Hyun Lim, Jamie Snider, Liron Birimberg‐Schwartz, Wan Ip, Joana C Serralha, Hugo M Botelho, Miquéias Lopes‐Pacheco, Madalena C Pinto, Mohamed Taha Moutaoufik, Mara Zilocchi, Onofrio Laselva, Mohsen Esmaeili, Max Kotlyar, Anna Lyakisheva, Priscilla Tang, Lucía López Vázquez, Indira Akula, Farzaneh Aboualizadeh, Victoria Wong, Ingrid Grozavu, Teuta Opacak‐Bernardi, Zhong Yao, Meg Mendoza, Mohan Babu, Igor Jurisica, Tanja Gonska, Christine E Bear, Margarida D Amaral, Igor Stagljar
Mol Syst Biol. 2022 Feb; 18(2): e10629. Published online 2022 Feb 14. doi: 10.15252/msb.202110629
PMCID:
PMC8842165
AbstractArticlePDF–3.0M
4.
Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa
Yihui Wang, Yanling Teng, Desheng Liang, Zhuo Li, Lingqian Wu
Front Genet. 2021; 12: 715100. Published online 2021 Sep 9. doi: 10.3389/fgene.2021.715100
PMCID:
PMC8458757
AbstractArticlePDF–2.6M
5.
Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12-Related Retinopathies
Hajrah Sarkar, Maria Toms, Mariya Moosajee
Int J Mol Sci. 2021 Aug; 22(16): 8863. Published online 2021 Aug 18. doi: 10.3390/ijms22168863
PMCID:
PMC8396253
AbstractArticlePDF–2.7M
6.
Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants
Hajrah Sarkar, Cécile Méjécase, Philippa Harding, Jonathan Eintracht, Lyes Toualbi, Dulce Lima Cunha, Mariya Moosajee
Stem Cell Res. 2021 Jul; 54: 102449. doi: 10.1016/j.scr.2021.102449
PMCID:
PMC8363920
AbstractArticlePDF–2.4M
7.
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
AbstractArticlePDF–2.2M
8.
A Novel RNA-Seq-Based Model for Preoperative Prediction of Lymph Node Metastasis in Oral Squamous Cell Carcinoma
Bo Qiao, Min Zhao, Jing Wu, Huan Wu, Yiming Zhao, Fanhao Meng, Yu Tian, Situo Wang, Jinlong Shi, Haizhong Zhang
Biomed Res Int. 2020; 2020: 4252580. Published online 2020 Aug 31. doi: 10.1155/2020/4252580
PMCID:
PMC7479460
AbstractArticlePDF–1.3M
9.
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
AbstractArticlePDF–5.4M
10.
Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration
Abigail T. Fahim, Debra A. Thompson
Adv Exp Med Biol. Author manuscript; available in PMC 2020 Mar 11.
Published in final edited form as: Adv Exp Med Biol. 2019; 1185: 209–213. doi: 10.1007/978-3-030-27378-1_34
PMCID:
PMC7065034
AbstractArticlePDF–149K
11.
Detailed Clinical Characterisation, Unique Features, and Natural History of Autosomal Recessive RDH12-Associated Retinal Degeneration
Abigail T. Fahim, Zaina Bouzia, Kari H. Branham, Neruban Kumaran, Mauricio E. Vargas, Kecia L. Feathers, N. Dayanthi Perera, Kelly Young, Naheed W. Khan, John R. Heckenlively, Andrew R. Webster, Mark E. Pennesi, Robin R. Ali, Debra A. Thompson, Michel Michaelides
Br J Ophthalmol. Author manuscript; available in PMC 2020 Dec 1.
Published in final edited form as: Br J Ophthalmol. 2019 Dec; 103(12): 1789–1796. Published online 2019 Apr 12. doi: 10.1136/bjophthalmol-2018-313580
PMCID:
PMC7053401
AbstractArticlePDF–406K
12.
Expanding the phenotypic spectrum in RDH12-associated retinal disease
Hilary A. Scott, Emily M. Place, Kevin Ferenchak, Erin Zampaglione, Naomi E. Wagner, Katherine R. Chao, Stephanie P. DiTroia, Daniel Navarro-Gomez, Shizuo Mukai, Rachel M. Huckfeldt, Eric A. Pierce, Kinga M. Bujakowska
Cold Spring Harb Mol Case Stud. 2020 Feb; 6(1): a004754. doi: 10.1101/mcs.a004754
PMCID:
PMC6996522
AbstractArticlePDF–8.7M
13.
Peripapillary sparing in RDH12-associated Leber congenital amaurosis
Aakriti Garg, Winston Lee, Jesse D. Sengillo, Rando Allikmets, Stephen H. Tsang
Ophthalmic Genet. Author manuscript; available in PMC 2019 Jan 2.
Published in final edited form as: Ophthalmic Genet. 2017 Dec; 38(6): 575–579. Published online 2017 May 17. doi: 10.1080/13816810.2017.1323339
PMCID:
PMC6314194
AbstractArticlePDF–592K
14.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
15.
Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis
Yun Li, Qing Pan, Yang-shun Gu
J Zhejiang Univ Sci B. 2017 May; 18(5): 421–429. doi: 10.1631/jzus.B1600156
PMCID:
PMC5442971
AbstractArticlePDF–1.0M
16.
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
AbstractArticlePDF–1.9M
17.
hORFeome v3.1: A resource of human open reading frames representing over 10,000 human genes
Philippe Lamesch, Ning Li, Stuart Milstein, Changyu Fan, Tong Hao, Gabor Szabo, Zhenjun Hu, Kavitha Venkatesan, Graeme Bethel, Paul Martin, Jane Rogers, Stephanie Lawlor, Stuart McLaren, Amélie Dricot, Heather Borick, Michael E. Cusick, Jean Vandenhaute, Ian Dunham, David E. Hill, Marc Vidal
Genomics. 2007 Mar; 89(3): 307–315. doi: 10.1016/j.ygeno.2006.11.012
PMCID:
PMC4647941
AbstractArticle
18.
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2016 Jul 16.
Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043
PMCID:
PMC4617211
AbstractArticlePDF–2.2M
19.
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
PMCID:
PMC4441215
AbstractArticlePDF–1.2M
20.
A proteome-scale map of the human interactome network
Thomas Rolland, Murat Taşan, Benoit Charloteaux, Samuel J. Pevzner, Quan Zhong, Nidhi Sahni, Song Yi, Irma Lemmens, Celia Fontanillo, Roberto Mosca, Atanas Kamburov, Susan D. Ghiassian, Xinping Yang, Lila Ghamsari, Dawit Balcha, Bridget E. Begg, Pascal Braun, Marc Brehme, Martin P. Broly, Anne-Ruxandra Carvunis, Dan Convery-Zupan, Roser Corominas, Jasmin Coulombe-Huntington, Elizabeth Dann, Matija Dreze, Amélie Dricot, Changyu Fan, Eric Franzosa, Fana Gebreab, Bryan J. Gutierrez, Madeleine F. Hardy, Mike Jin, Shuli Kang, Ruth Kiros, Guan Ning Lin, Katja Luck, Andrew MacWilliams, Jörg Menche, Ryan R. Murray, Alexandre Palagi, Matthew M. Poulin, Xavier Rambout, John Rasla, Patrick Reichert, Viviana Romero, Elien Ruyssinck, Julie M. Sahalie, Annemarie Scholz, Akash A. Shah, Amitabh Sharma, Yun Shen, Kerstin Spirohn, Stanley Tam, Alexander O. Tejeda, Shelly A. Wanamaker, Jean-Claude Twizere, Kerwin Vega, Jennifer Walsh, Michael E. Cusick, Yu Xia, Albert-László Barabási, Lilia M. Iakoucheva, Patrick Aloy, Javier De Las Rivas, Jan Tavernier, Michael A. Calderwood, David E. Hill, Tong Hao, Frederick P. Roth, Marc Vidal
Cell. Author manuscript; available in PMC 2015 Nov 20.
Published in final edited form as: Cell. 2014 Nov 20; 159(5): 1212–1226. doi: 10.1016/j.cell.2014.10.050
PMCID:
PMC4266588
AbstractArticlePDF–3.1M

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