PMC Links for Gene (Select 8820) - PMC

Select item 49889031.

HESX1 Mutations in Patients with Congenital Hypopituitarism: Variable Phenotypes with the Same Genotype

Qing Fang, Anna Flavia Figueredo Benedetti, Qianyi Ma, Louise Gregory, Jun Z. Li, Mehul Dattani, Abdollah Sadeghi-Nejad, Ivo J.P. Arnhold, Berenice Bilharinho de Mendonça, Sally A. Camper, Luciani R. Carvalho

Clin Endocrinol (Oxf) Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: Clin Endocrinol (Oxf). 2016 Sep; 85(3): 408–414. Published online 2016 Apr 28. doi: 10.1111/cen.13067

PMCID:: PMC4988903

Abstract Article PDF–486K

Select item 38888132.

The identification of HESX1 mutations in Kallmann syndrome

Kayce Newbern, Nithya Natrajan, Hyung-Goo Kim, Lynn .P. Chorich, Lisa Halvorson, Richard S. Cameron, Lawrence C. Layman

Fertil Steril. Author manuscript; available in PMC 2014 Jun 1.

Published in final edited form as: Fertil Steril. 2013 Jun; 99(7): 1831–1837. Published online 2013 Mar 1. doi: 10.1016/j.fertnstert.2013.01.149

PMCID:: PMC3888813

Abstract Article PDF–1.3M

Select item 27491503.

Role of Conserved Salt Bridges in Homeodomain Stability and DNA Binding

Mario Torrado, Julia Revuelta, Carlos Gonzalez, Francisco Corzana, Agatha Bastida, Juan Luis Asensio

J Biol Chem. 2009 Aug 28; 284(35): 23765–23779. Published online 2009 Jun 26. doi: 10.1074/jbc.M109.012054

PMCID:: PMC2749150

Abstract Article PDF–4.7M

Select item 2134894.

A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction

Luciani R. Carvalho, Kathryn S. Woods, Berenice B. Mendonca, Nathalie Marcal, Andrea L. Zamparini, Stefano Stifani, Joshua M. Brickman, Ivo J.P. Arnhold, Mehul T. Dattani

J Clin Invest. 2003 Oct 15; 112(8): 1192–1201. doi: 10.1172/JCI18589

PMCID:: PMC213489

Abstract Article PDF–1.8M

Select item 78285795.

Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis

Viola Alesi, Maria Lisa Dentici, Silvia Genovese, Sara Loddo, Emanuele Bellacchio, Valeria Orlando, Silvia Di Tommaso, Giorgia Catino, Chiara Calacci, Giusy Calvieri, Daniele Pompili, Graziamaria Ubertini, Bruno Dallapiccola, Rossella Capolino, Antonio Novelli

Int J Mol Sci. 2021 Jan; 22(2): 750. Published online 2021 Jan 13. doi: 10.3390/ijms22020750

PMCID:: PMC7828579

Abstract Article PDF–1.6M

Select item 29652956.

Candidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort

Cecilia Mellado, Annapurna Poduri, Danielle Gleason, Princess C Elhosary, Brenda J Barry, Jennifer N Partlow, Bernard S Chang, Gary M Shaw, A James Barkovich, Christopher A Walsh

Am J Med Genet A. 2010 Nov; 152A(11): 2736–2742. Published online 2010 Oct 11. doi: 10.1002/ajmg.a.33684

PMCID:: PMC2965295

Abstract Article PDF–113K

Select item 25825637.

A Novel Dominant Negative Mutation of OTX2 Associated with Combined Pituitary Hormone Deficiency

Daniel Diaczok, Christopher Romero, Janice Zunich, Ian Marshall, Sally Radovick

J Clin Endocrinol Metab. 2008 Nov; 93(11): 4351–4359. Published online 2008 Aug 26. doi: 10.1210/jc.2008-1189

PMCID:: PMC2582563

Abstract Article

Select item 103580308.

CTNNB1 Gene Mutations, Pituitary Transcription Factors, and MicroRNA Expression Involvement in the Pathogenesis of Adamantinomatous Craniopharyngiomas

Marina Lanciotti Campanini, Leandro Machado Colli, Beatriz Maria Carvalho Paixao, Tatiana Pereira Freitas Cabral, Fernando Colbari Amaral, Helio Rubens Machado, Luciano Serafin Neder, Fabiano Saggioro, Ayrton Custodio Moreira, Sonir Roberto Rauber Antonini, Margaret de Castro

Horm Cancer. 2010 Aug; 1(4): 187–196. Published online 2010 Nov 2. doi: 10.1007/s12672-010-0041-7

PMCID:: PMC10358030

Abstract Article PDF–185K

Select item 28523579.

Corepressors TLE1 and TLE3 Interact with HESX1 and PROP1

Luciani R. Carvalho, Michelle L. Brinkmeier, Frederic Castinetti, Buffy S. Ellsworth, Sally A. Camper

Mol Endocrinol. 2010 Apr; 24(4): 754–765. Published online 2010 Feb 24. doi: 10.1210/me.2008-0359

PMCID:: PMC2852357

Abstract Article

Select item 223378110.

DNMT1 interacts with the developmental transcriptional repressor HESX1

Ezat Sajedi, Carles Gaston-Massuet, Cynthia L. Andoniadou, Massimo Signore, Paul J. Hurd, Mehul Dattani, Juan Pedro Martinez-Barbera

Biochim Biophys Acta. 2008 Jan; 1783(1): 131–143. doi: 10.1016/j.bbamcr.2007.08.010

PMCID:: PMC2233781

Abstract Article

Select item 31284011.

Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesis

Jeremy S. Dasen, Juan-Pedro Martinez Barbera, Thomas S. Herman, Shawn O' Connell, Lorin Olson, BongGun Ju, Jessica Tollkuhn, Sung Hee Baek, David W. Rose, Michael G. Rosenfeld

Genes Dev. 2001 Dec 1; 15(23): 3193–3207. doi: 10.1101/gad.932601

PMCID:: PMC312840

Abstract Article PDF–1.1M

Select item 438092812.

Phospho-tyrosine dependent protein–protein interaction network

Arndt Grossmann, Nouhad Benlasfer, Petra Birth, Anna Hegele, Franziska Wachsmuth, Luise Apelt, Ulrich Stelzl

Mol Syst Biol. 2015 Mar; 11(3): 0794. Published online 2015 Mar 26. doi: 10.15252/msb.20145968

PMCID:: PMC4380928

Abstract Article PDF–1.9M

Select item 800904813.

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

Abstract Article PDF–2.6M

Select item 283626714.

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

Abstract Article PDF–2.2M

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

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 553161116.

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

Abstract Article PDF–2.7M

Select item 816503017.

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