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Select item 107335201.

GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism

Auryan Szalat, Shoshana Shpitzen, Rena Pollack, Haggi Mazeh, Ronen Durst, Vardiella Meiner

Front Endocrinol (Lausanne) 2023; 14: 1254156. Published online 2023 Dec 7. doi: 10.3389/fendo.2023.1254156

PMCID:: PMC10733520

Abstract Article PDF–921K

Select item 88599182.

Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders

Lucie Canaff, Vito Guarnieri, Yoojung Kim, Betty Y L Wong, Alexis Nolin-Lapalme, David E C Cole, Salvatore Minisola, Cristina Eller-Vainicher, Filomena Cetani, Andrea Repaci, Daniela Turchetti, Sabrina Corbetta, Alfredo Scillitani, David Goltzman

Eur J Endocrinol. 2022 Mar 1; 186(3): 351–366. Published online 2022 Jan 13. doi: 10.1530/EJE-21-0433

PMCID:: PMC8859918

Abstract Article PDF–1.7M

Select item 84752373.

GCM2 Silencing in Parathyroid Adenoma Is Associated With Promoter Hypermethylation and Gain of Methylation on Histone 3

Priyanka Singh, Sanjay Kumar Bhadada, Divya Dahiya, Uma Nahar Saikia, Ashutosh Kumar Arya, Naresh Sachdeva, Jyotdeep Kaur, Arunanshu Behera, Maria Luisa Brandi, Sudhaker Dhanwada Rao

J Clin Endocrinol Metab. 2021 Oct; 106(10): e4084–e4096. Published online 2021 Jun 2. doi: 10.1210/clinem/dgab374

PMCID:: PMC8475237

Abstract Article

Select item 80090484.

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 78591965.

Five patients with disorders of calcium metabolism presented with GCM2 gene variants

Alejandro García-Castaño, Leire Madariaga, Sara Gómez-Conde, Carmen Lourdes Rey Cordo, María López-Iglesias, Yolanda Garcia-Fernández, Alicia Martín, Pedro González, Ignacio Goicolea, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Aníbal Aguayo, Idoia Martínez de LaPiscina, Rosa Martínez, Laura Saso, Inés Urrutia, Olaia Velasco, Luis Castaño, Sonia Gaztambide

Sci Rep. 2021; 11: 2968. Published online 2021 Feb 3. doi: 10.1038/s41598-021-82661-y

PMCID:: PMC7859196

Abstract Article PDF–934K

Select item 71699836.

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 67426467.

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

Abstract Article PDF–1.2M

Select item 63611628.

Specifying the molecular pattern of sporadic parathyroid tumorigenesis—The Y282D variant of the GCM2 gene

Elena Marchiori, Maria Rosa Pelizzo, Monika Herten, Danyelle M. Townsend, Domenico Rubello, Isabella Merante Boschin

Biomed Pharmacother. Author manuscript; available in PMC 2019 Feb 4.

Published in final edited form as: Biomed Pharmacother. 2017 Aug; 92: 843–848. Published online 2017 Jun 9. doi: 10.1016/j.biopha.2017.05.028

PMCID:: PMC6361162

Abstract Article PDF–164K

Select item 63149579.

An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders

Siwei Chen, Robert Fragoza, Lambertus Klei, Yuan Liu, Jiebiao Wang, Kathryn Roeder, Bernie Devlin, Haiyuan Yu

Nat Genet. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Nat Genet. 2018 Jul; 50(7): 1032–1040. Published online 2018 Jun 11. doi: 10.1038/s41588-018-0130-z

PMCID:: PMC6314957

Abstract Article PDF–1.3M

Select item 622609110.

Embryology of the parathyroid glands

Kristen Peissig, Brian G Condie, Nancy R Manley

Endocrinol Metab Clin North Am. Author manuscript; available in PMC 2019 Dec 1.

Published in final edited form as: Endocrinol Metab Clin North Am. 2018 Dec; 47(4): 733–742. doi: 10.1016/j.ecl.2018.07.002

PMCID:: PMC6226091

Article PDF–263K

Select item 573642811.

Familial Isolated Primary Hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has lesser rate of biochemical cure

Mustapha El Lakis, Pavel Nockel, Bin Guan, Sunita Agarwal, James Welch, William F Simonds, Stephen Marx, Yulong Li, Naris Nilubol, Dhaval Patel, Lily Yang, Roxanne Merkel, Electron Kebebew

Surgery. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Surgery. 2018 Jan; 163(1): 31–34. Published online 2017 Nov 3. doi: 10.1016/j.surg.2017.04.027

PMCID:: PMC5736428

Abstract Article PDF–185K

Select item 553161112.

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 509794413.

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism

Bin Guan, James M. Welch, Julie C. Sapp, Hua Ling, Yulong Li, Jennifer J. Johnston, Electron Kebebew, Leslie G. Biesecker, William F. Simonds, Stephen J. Marx, Sunita K. Agarwal

Am J Hum Genet. 2016 Nov 3; 99(5): 1034–1044. Published online 2016 Oct 13. doi: 10.1016/j.ajhg.2016.08.018

PMCID:: PMC5097944

Abstract Article PDF–900K

Select item 444121514.

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

Abstract Article PDF–1.2M

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