PMC Links for Gene (Select 80270) - PMC

Select item 85016981.

Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ⁵-C₂₇-steroid oxidoreductase (HSD3B7) deficiency in China

Jing Zhao, Kenneth D. R. Setchell, Ying Gong, Yinghua Sun, Ping Zhang, James E. Heubi, Lingjuan Fang, Yi Lu, Xinbao Xie, Jingyu Gong, Jian-She Wang

Orphanet J Rare Dis. 2021; 16: 417. Published online 2021 Oct 9. doi: 10.1186/s13023-021-02041-7

PMCID:: PMC8501698

Abstract Article PDF–1.6M

Select item 58933442.

The association between HSD3B7 gene variant and Parkinson's disease in ethnic Chinese

Zhong‐Jiao Lu, Ling Wang, Xiao‐Yi Sun, Jun‐Ying Li, Lan Cheng, Nan‐Nan Li, Rong Peng

Brain Behav. 2018 Apr; 8(4): e00913. Published online 2018 Feb 17. doi: 10.1002/brb3.913

PMCID:: PMC5893344

Abstract Article PDF–322K

Select item 47975523.

Novel Mutations in the 3β-hydroxy-Δ5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis

He-Yu Huang, Hua Zhou, Hong Wang, Ya-Xian Chen, Feng Fang

Chin Med J (Engl) 2016 Jan 5; 129(1): 98–100. doi: 10.4103/0366-6999.172603

PMCID:: PMC4797552

Article PDF–908K

Select item 37715324.

Homozygosity Mapping Identifies a Bile Acid Biosynthetic Defect in an Adult with Cirrhosis of Unknown Etiology

Vered Molho-Pessach, Jonathan J. Rios, Chao Xing, Kenneth D.R. Setchell, Jonathan C. Cohen, Helen H. Hobbs

Hepatology. Author manuscript; available in PMC 2013 Sep 12.

Published in final edited form as: Hepatology. 2012 Apr; 55(4): 1139–1145. Published online 2012 Feb 8. doi: 10.1002/hep.24781

PMCID:: PMC3771532

Abstract Article PDF–264K

Select item 3014215.

The bile acid synthetic gene 3β-hydroxy-Δ⁵-C₂₇-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis

Margrit Schwarz, Angelique C. Wright, Daphne L. Davis, Hisham Nazer, Ingemar Björkhem, David W. Russell

J Clin Invest. 2000 Nov 1; 106(9): 1175–1184. doi: 10.1172/JCI10902

PMCID:: PMC301421

Abstract Article PDF–703K

Select item 29677506.

An integrative method for scoring candidate genes from association studies: application to warfarin dosing

Nicholas P Tatonetti, Joel T Dudley, Hersh Sagreiya, Atul J Butte, Russ B Altman

BMC Bioinformatics. 2010; 11(Suppl 9): S9. Published online 2010 Oct 28. doi: 10.1186/1471-2105-11-S9-S9

PMCID:: PMC2967750

Abstract Article PDF–368K

Select item 35141597.

Protein interactions of the transcription factor Hoxa1

Barbara Lambert, Julie Vandeputte, Sophie Remacle, Isabelle Bergiers, Nicolas Simonis, Jean-Claude Twizere, Marc Vidal, René Rezsohazy

BMC Dev Biol. 2012; 12: 29. Published online 2012 Oct 22. doi: 10.1186/1471-213X-12-29

PMCID:: PMC3514159

Abstract Article PDF–1.6M

Select item 27686678.

A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene

Ji Luo, Michael J. Emanuele, Danan Li, Chad J. Creighton, Michael R. Schlabach, Thomas F. Westbrook, Kwok-kin Wong, Stephen J. Elledge

Cell. Author manuscript; available in PMC 2009 Nov 29.

Published in final edited form as: Cell. 2009 May 29; 137(5): 835–848. doi: 10.1016/j.cell.2009.05.006

PMCID:: PMC2768667

Abstract Article PDF–4.0M

Select item 31883889.

Leveraging the power of next-generation sequencing to generate interactome datasets

Haiyuan Yu, Leah Tardivo, Stanley Tam, Evan Weiner, Fana Gebreab, Changyu Fan, Nenad Svrzikapa, Tomoko Hirozane-Kishikawa, Edward Rietman, Xinping Yang, Julie Sahalie, Kourosh Salehi-Ashtiani, Tong Hao, Michael E. Cusick, David E. Hill, Frederick P. Roth, Pascal Braun, Marc Vidal

Nat Methods. Author manuscript; available in PMC 2011 Dec 1.

Published in final edited form as: Nat Methods. 2011 Jun; 8(6): 478–480. Published online 2011 Apr 24. doi: 10.1038/nmeth.1597

PMCID:: PMC3188388

Abstract Article PDF–932K

Select item 756688110.

Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism

Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat

Nat Metab. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z

PMCID:: PMC7566881

Abstract Article PDF–4.8M

Select item 326170811.

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 289674412.

The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative

Bengt Persson, James E. Bray, Elspeth Bruford, Stephen L. Dellaporta, Angelo D. Favia, Roser Gonzalez Duarte, Hans Jörnvall, Yvonne Kallberg, Kathryn L. Kavanagh, Natalia Kedishvili, Michael Kisiela, Edmund Maser, Rebekka Mindnich, Sandra Orchard, Trevor M. Penning, Janet M. Thornton, Jerzy Adamski, Udo Oppermann

Chem Biol Interact. Author manuscript; available in PMC 2010 Jul 5.

Published in final edited form as: Chem Biol Interact. 2009 Mar 16; 178(1-3): 94–98. Published online 2008 Nov 5. doi: 10.1016/j.cbi.2008.10.040

PMCID:: PMC2896744

Abstract Article PDF–57K

Select item 426658813.

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 135612914.

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 716998315.

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