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Items: 1 to 20 of 44

1.
Association between Circulating Ectodysplasin A and Diabetic Kidney Disease
Xia Deng, Chang Guo, Huijuan Qin, Li Zhao, Yanyan Li, Zhicong Zhao, Haoxiang Li, Ling Yang, Dong Wang, Guoyue Yuan
J Diabetes Res. 2023; 2023: 5087761. Published online 2023 Apr 12. doi: 10.1155/2023/5087761
PMCID:
PMC10115520
AbstractArticlePDF–437K
2.
A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor‐binding capability
Xingyu Liu, Yuming Zhao, Junxia Zhu
Mol Genet Genomic Med. 2023 Apr; 11(4): e2119. Published online 2022 Nov 29. doi: 10.1002/mgg3.2119
PMCID:
PMC10094068
AbstractArticlePDF–2.9M
3.
Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants
Kang Yu, Chenhui Huang, Futang Wan, Cailing Jiang, Juan Chen, Xiuping Li, Feng Wang, Jian Wu, Ming Lei, Yiqun Wu
Nat Commun. 2023; 14: 767. Published online 2023 Feb 11. doi: 10.1038/s41467-023-36367-6
PMCID:
PMC9918506
AbstractArticlePDF–14M
4.
Two novel ectodysplasin A gene mutations and prenatal diagnosis of X‐linked hypohidrotic ectodermal dysplasia
Kang Yu, Yihan Shen, Cai‐Ling Jiang, Wei Huang, Feng Wang, Yi‐Qun Wu
Mol Genet Genomic Med. 2021 Nov; 9(11): e1824. Published online 2021 Sep 28. doi: 10.1002/mgg3.1824
PMCID:
PMC8606200
AbstractArticlePDF–1.1M
5.
Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations
Hoda A. Ahmed, Ghada Y. El-Kamah, Eman Rabie, Mostafa I. Mostafa, Maha R. Abouzaid, Nehal F. Hassib, Mennat I. Mehrez, Mohamed A. Abdel-Kader, Yasmine H. Mohsen, Suher K. Zada, Khalda S. Amr, Inas S. M. Sayed
Genes (Basel) 2021 Sep; 12(9): 1389. Published online 2021 Sep 8. doi: 10.3390/genes12091389
PMCID:
PMC8468066
AbstractArticlePDF–6.2M
6.
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
7.
Ectodysplasin A Is Increased in Non-Alcoholic Fatty Liver Disease, But Is Not Associated With Type 2 Diabetes
Jacqueline Bayliss, Geraldine J. Ooi, William De Nardo, Yazmin Johari Halim Shah, Magdalene K. Montgomery, Catriona McLean, William Kemp, Stuart K. Roberts, Wendy A. Brown, Paul R. Burton, Matthew J. Watt
Front Endocrinol (Lausanne) 2021; 12: 642432. Published online 2021 Mar 4. doi: 10.3389/fendo.2021.642432
PMCID:
PMC7970300
AbstractArticlePDF–1.0M
8.
Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis
Francesca Andreoni, Claudia Sgattoni, Daniela Bencardino, Oriana Simonetti, Antonino Forabosco, Mauro Magnani
Mol Genet Genomic Med. 2021 Jan; 9(1): e1555. Published online 2020 Nov 18. doi: 10.1002/mgg3.1555
PMCID:
PMC7963410
AbstractArticlePDF–1.4M
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.
EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population
María Carmen Martínez-Romero, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Barreda-Sánchez, Lidya Rodriguez-Peña, María Teresa Martínez-Menchon, José Frías-Iniesta, Paloma Sánchez-Pedreño, Pablo Carbonell-Meseguer, Guillermo Glover-López, Encarna Guillén-Navarro, GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia)
Orphanet J Rare Dis. 2019; 14: 281. Published online 2019 Dec 3. doi: 10.1186/s13023-019-1251-x
PMCID:
PMC6892193
AbstractArticlePDF–577K
11.
Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations
Asia Parveen, Sher Alam Khan, Muhammad Usman Mirza, Hina Bashir, Fatima Arshad, Maria Iqbal, Waseem Ahmad, Ahsan Wahab, Amal Fiaz, Sidra Naz, Fareeha Ashraf, Tayyaba Mobeen, Salman Aziz, Syed Shoaib Ahmed, Noor Muhammad, Nehal F. Hassib, Mostafa I. Mostafa, Nagwa E. Gaboon, Roquyya Gul, Saadullah Khan, Matheus Froeyen, Muhammad Shoaib, Naveed Wasif
Int J Mol Sci. 2019 Nov; 20(21): 5282. Published online 2019 Oct 24. doi: 10.3390/ijms20215282
PMCID:
PMC6862269
AbstractArticlePDF–3.1M
12.
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
AbstractArticlePDF–1.2M
13.
Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a
Fangqi He, Hongfeng Wang, Xiaoyu Zhang, Qingping Gao, Feng Guo, Chang Chen
BMC Med Genet. 2018; 19: 209. Published online 2018 Dec 7. doi: 10.1186/s12881-018-0726-2
PMCID:
PMC6286515
AbstractArticlePDF–2.7M
14.
Ectodysplasin A regulates epithelial barrier function through sonic hedgehog signalling pathway
Sanming Li, Jing Zhou, Liying Zhang, Juan Li, Jingwen Yu, Ke Ning, Yangluowa Qu, Hui He, Yongxiong Chen, Peter S. Reinach, Chia‐Yang Liu, Zuguo Liu, Wei Li
J Cell Mol Med. 2018 Jan; 22(1): 230–240. Published online 2017 Aug 7. doi: 10.1111/jcmm.13311
PMCID:
PMC5742694
AbstractArticlePDF–939K
15.
RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination
Nila Roy Choudhury, Gregory Heikel, Maryia Trubitsyna, Peter Kubik, Jakub Stanislaw Nowak, Shaun Webb, Sander Granneman, Christos Spanos, Juri Rappsilber, Alfredo Castello, Gracjan Michlewski
BMC Biol. 2017; 15: 105. Published online 2017 Nov 8. doi: 10.1186/s12915-017-0444-9
PMCID:
PMC5678581
AbstractArticlePDF–3.2M
16.
The Impact of the Eda Pathway on Tooth Root Development
J.M. Fons Romero, H. Star, R. Lav, S. Watkins, M. Harrison, M. Hovorakova, D. Headon, A.S. Tucker
J Dent Res. 2017 Oct; 96(11): 1290–1297. Published online 2017 Aug 16. doi: 10.1177/0022034517725692
PMCID:
PMC5613883
AbstractArticlePDF–1.0M
17.
Synergistic drug combinations for cancer identified in a CRISPR screen for pairwise genetic interactions
Kyuho Han, Edwin E. Jeng, Gaelen T. Hess, David W. Morgens, Amy Li, Michael C. Bassik
Nat Biotechnol. Author manuscript; available in PMC 2017 Sep 20.
Published in final edited form as: Nat Biotechnol. 2017 May; 35(5): 463–474. Published online 2017 Mar 20. doi: 10.1038/nbt.3834
PMCID:
PMC5557292
AbstractArticlePDF–3.4M
18.
Ectodysplasin A protein promotes corneal epithelial cell proliferation
Sanming Li, Jing Zhou, Jinghua Bu, Ke Ning, Liying Zhang, Juan Li, Yuli Guo, Xin He, Hui He, Xiaoxin Cai, Yongxiong Chen, Peter Sol Reinach, Zuguo Liu, Wei Li
J Biol Chem. 2017 Aug 11; 292(32): 13391–13401. Published online 2017 Jun 27. doi: 10.1074/jbc.M117.803809
PMCID:
PMC5555198
AbstractArticlePDF–3.3M
19.
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
20.
Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis
Wenjing Shen, Yue Wang, Yang Liu, Haochen Liu, Hongshan Zhao, Guozhong Zhang, Malcolm L. Snead, Dong Han, Hailan Feng
PLoS One. 2016; 11(5): e0154884. Published online 2016 May 4. doi: 10.1371/journal.pone.0154884
PMCID:
PMC4856323
AbstractArticlePDF–2.6M

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