PMC Links for Gene (Select 3081) - PMC

Select item 104742791.

Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria

Zeinab S. Abdelkhalek, Iman G. Mahmoud, Heba Omair, Mohamed Abdulhay, Mohamed A. Elmonem

Sci Rep. 2023; 13: 14374. Published online 2023 Sep 1. doi: 10.1038/s41598-023-41200-7

PMCID:: PMC10474279

Select item 67775182.

Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype–phenotype correlations in the largest cohort of patients with AKU

David B. Ascher, Ottavia Spiga, Martina Sekelska, Douglas E. V. Pires, Andrea Bernini, Monica Tiezzi, Jana Kralovicova, Ivana Borovska, Andrea Soltysova, Birgitta Olsson, Silvia Galderisi, Vittoria Cicaloni, Lakshminarayan Ranganath, Annalisa Santucci, Andrea Zatkova

Eur J Hum Genet. 2019 Jun; 27(6): 888–902. Published online 2019 Feb 8. doi: 10.1038/s41431-019-0354-0

PMCID:: PMC6777518

Abstract Article PDF–1.8M

Select item 47952153.

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease' in Italy

Martina Nemethova, Jan Radvanszky, Ludevit Kadasi, David B Ascher, Douglas E V Pires, Tom L Blundell, Berardino Porfirio, Alessandro Mannoni, Annalisa Santucci, Lia Milucci, Silvia Sestini, Gianfranco Biolcati, Fiammetta Sorge, Caterina Aurizi, Robert Aquaron, Mohammed Alsbou, Charles Marques Lourenço, Kanakasabapathi Ramadevi, Lakshminarayan R Ranganath, James A Gallagher, Christa van Kan, Anthony K Hall, Birgitta Olsson, Nicolas Sireau, Hana Ayoob, Oliver G Timmis, Kim-Hanh Le Quan Sang, Federica Genovese, Richard Imrich, Jozef Rovensky, Rangan Srinivasaraghavan, Shruthi K Bharadwaj, Ronen Spiegel, Andrea Zatkova

Eur J Hum Genet. 2016 Jan; 24(1): 66–72. Published online 2015 Mar 25. doi: 10.1038/ejhg.2015.60

PMCID:: PMC4795215

Abstract Article PDF–764K

Select item 34278834.

Homogentisate 1,2 Dioxygenase is Expressed in Human Osteoarticular Cells: Implications in Alkaptonuria

Marcella Laschi, Laura Tinti, Daniela Braconi, Lia Millucci, Lorenzo Ghezzi, Loredana Amato, Enrico Selvi, Adriano Spreafico, Giulia Bernardini, Annalisa Santucci

J Cell Physiol. 2012 Sep; 227(9): 3254–3257. Published online 2011 Nov 21. doi: 10.1002/jcp.24018

PMCID:: PMC3427883

Abstract Article PDF–179K

Select item 28300055.

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria

Thierry Vilboux, Michael Kayser, Wendy Introne, Pim Suwannarat, Isa Bernardini, Roxanne Fischer, Kevin O’Brien, Robert Kleta, Marjan Huizing, William A. Gahl

Hum Mutat. Author manuscript; available in PMC 2010 Dec 1.

Published in final edited form as: Hum Mutat. 2009 Dec; 30(12): 1611–1619. doi: 10.1002/humu.21120

PMCID:: PMC2830005

Abstract Article PDF–572K

Select item 17342736.

Mutational analysis of the HGO gene in Finnish alkaptonuria patients

D. B.-V. de Bernabe, P. Peterson, K. Luopajarvi, P. Matintalo, A. Alho, Y. Konttinen, K. Krohn, S. R. de Cordoba, A. Ranki

J Med Genet. 1999 Dec; 36(12): 922–923.

PMCID:: PMC1734273

Summary PDF–57K

Select item 17230577.

Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene

U. Felbor, Y. Mutsch, F. Grehn, C. Muller, W. Kress

Br J Ophthalmol. 1999 Jun; 83(6): 680–683. doi: 10.1136/bjo.83.6.680

PMCID:: PMC1723057

Summary PDF–129K

Select item 13778678.

Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).

D Beltrán-Valero de Bernabé, F J Jimenez, R Aquaron, S Rodríguez de Córdoba

Am J Hum Genet. 1999 May; 64(5): 1316–1322. doi: 10.1086/302376

PMCID:: PMC1377867

Summary PDF–239K

Select item 13770449.

Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.

D Beltrán-Valero de Bernabé, B Granadino, I Chiarelli, B Porfirio, E Mayatepek, R Aquaron, M M Moore, J J Festen, R Sanmartí, M A Peñalva, S R de Córdoba

Am J Hum Genet. 1998 Apr; 62(4): 776–784. doi: 10.1086/301805

PMCID:: PMC1377044

Summary PDF–314K

Select item 303367210.

Genome-wide YFP Fluorescence Complementation Screen Identifies New Regulators for Telomere Signaling in Human Cells

Ok-Hee Lee, Hyeung Kim, Quanyuan He, Hwa Jin Baek, Dong Yang, Liuh-Yow Chen, Jiancong Liang, Heekyung Kate Chae, Amin Safari, Dan Liu, Zhou Songyang

Mol Cell Proteomics. 2011 Feb; 10(2): M110.001628. Published online 2010 Nov 11. doi: 10.1074/mcp.M110.001628

PMCID:: PMC3033672

Abstract Article PDF–1.5M

Select item 464794111.

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

Abstract Article

Select item 263705012.

Large-Scale Proteomics and Phosphoproteomics of Urinary Exosomes

Patricia A. Gonzales, Trairak Pisitkun, Jason D. Hoffert, Dmitry Tchapyjnikov, Robert A. Star, Robert Kleta, Nam Sun Wang, Mark A. Knepper

J Am Soc Nephrol. 2009 Feb; 20(2): 363–379. doi: 10.1681/ASN.2008040406

PMCID:: PMC2637050

Abstract Article

Select item 377350513.

In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine

Simona Principe, E. Ellen Jones, Yunee Kim, Ankit Sinha, Julius O. Nyalwidhe, Jasmin Brooks, O. John Semmes, Dean A. Troyer, Raymond S. Lance, Thomas Kislinger, Richard R. Drake

Proteomics. Author manuscript; available in PMC 2014 May 1.

Published in final edited form as: Proteomics. 2013 May; 13(0): 1667–1671. Published online 2013 Apr 23. doi: 10.1002/pmic.201200561

PMCID:: PMC3773505

Abstract Article PDF–630K

Select item 326170814.

Toward an understanding of the protein interaction network of the human liver

Jian Wang, Keke Huo, Lixin Ma, Liujun Tang, Dong Li, Xiaobi Huang, Yanzhi Yuan, Chunhua Li, Wei Wang, Wei Guan, Hui Chen, Chaozhi Jin, Junchen Wei, Wanqiao Zhang, Yongsheng Yang, Qiongming Liu, Ying Zhou, Cuili Zhang, Zhihao Wu, Wangxiang Xu, Ying Zhang, Tao Liu, Donghui Yu, Yaping Zhang, Liang Chen, Dewu Zhu, Xing Zhong, Lixin Kang, Xiang Gan, Xiaolan Yu, Qi Ma, Jing Yan, Li Zhou, Zhongyang Liu, Yunping Zhu, Tao Zhou, Fuchu He, Xiaoming Yang

Mol Syst Biol. 2011; 7: 536. Published online 2011 Oct 11. doi: 10.1038/msb.2011.67

Correction in:: Mol Syst Biol. 2017 Dec; 13(12): 965.

PMCID:: PMC3261708

Abstract Article PDF–2.0M

Select item 426658815.

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

Abstract Article PDF–3.1M

Select item 135612916.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Abstract Article PDF–438K

Select item 716998317.

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