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Items: 1 to 20 of 22

1.
Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation
L. C. Gregory, K. N. Humayun, J. P. G. Turton, M. J. McCabe, S. J. Rhodes, M. T. Dattani
J Clin Endocrinol Metab. 2015 Jun; 100(6): 2158–2164. Published online 2015 Apr 14. doi: 10.1210/jc.2014-4484
PMCID:
PMC4454798
AbstractArticle
2.
Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue
Claire Rochette, Nicolas Jullien, Alexandru Saveanu, Emmanuelle Caldagues, Ignacio Bergada, Debora Braslavsky, Marija Pfeifer, Rachel Reynaud, Jean-Paul Herman, Anne Barlier, Thierry Brue, Alain Enjalbert, Frederic Castinetti
PLoS One. 2015; 10(5): e0126648. Published online 2015 May 8. doi: 10.1371/journal.pone.0126648
PMCID:
PMC4425544
AbstractArticlePDF–3.0M
3.
Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism
Masaki Takagi, Tomohiro Ishii, Mikako Inokuchi, Naoko Amano, Satoshi Narumi, Yumi Asakura, Koji Muroya, Yukihiro Hasegawa, Masanori Adachi, Tomonobu Hasegawa
PLoS One. 2012; 7(9): e46008. Published online 2012 Sep 24. doi: 10.1371/journal.pone.0046008
PMCID:
PMC3454328
AbstractArticlePDF–487K
4.
Three Novel Missense Mutations within the LHX4 Gene Are Associated with Variable Pituitary Hormone Deficiencies
Roland W. Pfaeffle, Chad S. Hunter, Jesse J. Savage, Mario Duran-Prado, Rachel D. Mullen, Zachary P. Neeb, Urs Eiholzer, Volker Hesse, Nadine G. Haddad, Heike M. Stobbe, Werner F. Blum, Johannes F. W. Weigel, Simon J. Rhodes
J Clin Endocrinol Metab. 2008 Mar; 93(3): 1062–1071. Published online 2007 Dec 11. doi: 10.1210/jc.2007-1525
PMCID:
PMC2266965
AbstractArticle
5.
Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4
Kalotina Machinis, Jacques Pantel, Irène Netchine, Juliane Léger, Olivier J. A. Camand, Marie-Laure Sobrier, Florence Dastot-Le Moal, Philippe Duquesnoy, Marc Abitbol, Paul Czernichow, Serge Amselem
Am J Hum Genet. 2001 Nov; 69(5): 961–968. Published online 2001 Sep 20. doi: 10.1086/323764
PMCID:
PMC1274372
AbstractArticlePDF–542K
6.
Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes
Tarık Kırkgöz, Semra Gürsoy, Sezer Acar, Özlem Nalbantoğlu, Beyhan Özkaya, Hüseyin Anıl Korkmaz, Filiz Hazan, Behzat Özkan
Arch Endocrinol Metab. 2024; 68: e220254. Published online 2023 Nov 10. doi: 10.20945/2359-4292-2022-0254
PMCID:
PMC10916835
AbstractArticlePDF–193K
7.
Gsh-4 encodes a LIM-type homeodomain, is expressed in the developing central nervous system and is required for early postnatal survival.
H Li, D P Witte, W W Branford, B J Aronow, M Weinstein, S Kaur, S Wert, G Singh, C M Schreiner, J A Whitsett, et al.
EMBO J. 1994 Jun 15; 13(12): 2876–2885. doi: 10.1002/j.1460-2075.1994.tb06582.x
PMCID:
PMC395169
SummaryPage BrowsePDF–3.5M
8.
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
AbstractArticlePDF–2.6M
9.
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
10.
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
11.
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
AbstractArticlePDF–2.1M
12.
An atlas of combinatorial transcriptional regulation in mouse and man
The FANTOM consortium and RIKEN Omics Science Center
Cell. Author manuscript; available in PMC 2011 Mar 5.
Published in final edited form as: Cell. 2010 Mar 5; 140(5): 744–752. doi: 10.1016/j.cell.2010.01.044
Correction in:
volume 141 on page 369
PMCID:
PMC2836267
AbstractArticlePDF–2.2M
13.
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
AbstractArticlePDF–932K
14.
Human transcription factor protein interaction networks
Helka Göös, Matias Kinnunen, Kari Salokas, Zenglai Tan, Xiaonan Liu, Leena Yadav, Qin Zhang, Gong-Hong Wei, Markku Varjosalo
Nat Commun. 2022; 13: 766. Published online 2022 Feb 9. doi: 10.1038/s41467-022-28341-5
PMCID:
PMC8828895
AbstractArticlePDF–1.7M
15.
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
16.
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
17.
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
18.
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
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.
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

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