PMC Links for GEO Profiles (Select 90735867) - PMC

Select item 110677411.

Crystal structure of human peptidylarginine deiminase type VI (PAD6) provides insights into its inactivity

Fanomezana M. Ranaivoson, Rieke Bande, Isabell Cardaun, Antonio De Riso, Annette Gärtner, Pui Loke, Christina Reinisch, Prasuna Vogirala, Edward Beaumont

IUCrJ. 2024 May 1; 11(Pt 3): 395–404. Published online 2024 Apr 24. doi: 10.1107/S2052252524002549

PMCID:: PMC11067741

Abstract Article PDF–2.2M

Select item 84721382.

Genetic Variation in PADI6-PADI4 on 1p36.13 Is Associated with Common Forms of Human Generalized Epilepsy

Russell J. Buono, Jonathan P. Bradfield, Zhi Wei, Michael R. Sperling, Dennis J. Dlugos, Michael D. Privitera, Jacqueline A. French, Warren Lo, Patrick Cossette, Steven C. Schachter, Heather Basehore, Falk W. Lohoff, Struan F. A. Grant, Thomas N. Ferraro, Hakon Hakonarson

Genes (Basel) 2021 Sep; 12(9): 1441. Published online 2021 Sep 18. doi: 10.3390/genes12091441

PMCID:: PMC8472138

Abstract Article PDF–2.8M

Select item 82669523.

Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development

Juan Liu, Zongjian Tan, Jun He, Tingting Jin, Yuanyuan Han, Li Hu, Shengwen Huang

J Assist Reprod Genet. 2021 Jun; 38(6): 1551–1559. Published online 2021 May 26. doi: 10.1007/s10815-021-02194-1

PMCID:: PMC8266952

Abstract Article PDF–1.4M

Select item 81650304.

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

Abstract Article PDF–2.2M

Select item 81155255.

Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family

Thomas Eggermann, Gundula Kadgien, Matthias Begemann, Miriam Elbracht

Eur J Hum Genet. 2021 Apr; 29(4): 575–580. Published online 2020 Nov 21. doi: 10.1038/s41431-020-00762-0

PMCID:: PMC8115525

Abstract Article PDF–1009K

Select item 74890236.

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

Maria Vittoria Cubellis, Laura Pignata, Ankit Verma, Angela Sparago, Rosita Del Prete, Maria Monticelli, Luciano Calzari, Vincenzo Antona, Daniela Melis, Romano Tenconi, Silvia Russo, Flavia Cerrato, Andrea Riccio

Clin Epigenetics. 2020; 12: 139. Published online 2020 Sep 14. doi: 10.1186/s13148-020-00925-2

PMCID:: PMC7489023

Abstract Article PDF–1.4M

Select item 71699837.

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 70005848.

New biallelic mutations in PADI6 cause recurrent preimplantation embryonic arrest characterized by direct cleavage

Wei Zheng, Longbin Chen, Jing Dai, Can Dai, Jing Guo, Changfu Lu, Fei Gong, Guangxiu Lu, Ge Lin

J Assist Reprod Genet. 2020 Jan; 37(1): 205–212. Published online 2019 Oct 29. doi: 10.1007/s10815-019-01606-7

PMCID:: PMC7000584

Abstract Article PDF–936K

Select item 60471579.

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Matthias Begemann, Faisal I Rezwan, Jasmin Beygo, Louise E Docherty, Julia Kolarova, Christopher Schroeder, Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L S Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G Mehta, Gareth Baynam, Julian P Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, Isabel Karen Temple, Thomas Eggermann, Deborah J G Mackay

J Med Genet. 2018 Jul; 55(7): 497–504. Published online 2018 Mar 24. doi: 10.1136/jmedgenet-2017-105190

PMCID:: PMC6047157

Abstract Article PDF–354K

Select item 601878510.

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

JianHua Qian, Ngoc Minh Phuong Nguyen, Maryam Rezaei, Bo Huang, YongLing Tao, XiaoFei Zhang, Qi Cheng, HanJin Yang, Ao Asangla, Jacek Majewski, Rima Slim

Eur J Hum Genet. 2018 Jul; 26(7): 1007–1013. Published online 2018 Apr 25. doi: 10.1038/s41431-018-0141-3

PMCID:: PMC6018785

Abstract Article PDF–1.8M

Select item 501064511.

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest

Yao Xu, Yingli Shi, Jing Fu, Min Yu, Ruizhi Feng, Qing Sang, Bo Liang, Biaobang Chen, Ronggui Qu, Bin Li, Zheng Yan, Xiaoyan Mao, Yanping Kuang, Li Jin, Lin He, Xiaoxi Sun, Lei Wang

Am J Hum Genet. 2016 Sep 1; 99(3): 744–752. Published online 2016 Aug 18. doi: 10.1016/j.ajhg.2016.06.024

PMCID:: PMC5010645

Abstract Article PDF–1.2M

Select item 401418812.

Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma

Simon N. Stacey, Patrick Sulem, Daniel F. Gudbjartsson, Aslaug Jonasdottir, Gudmar Thorleifsson, Sigurjon A. Gudjonsson, Gisli Masson, Julius Gudmundsson, Bardur Sigurgeirsson, Kristrun R. Benediktsdottir, Kristin Thorisdottir, Rafn Ragnarsson, Victoria Fuentelsaz, Cristina Corredera, Matilde Grasa, Dolores Planelles, Onofre Sanmartin, Peter Rudnai, Eugene Gurzau, Kvetoslava Koppova, Kari Hemminki, Bjørn A Nexø, Anne Tjønneland, Kim Overvad, Hrefna Johannsdottir, Hafdis T. Helgadottir, Unnur Thorsteinsdottir, Augustine Kong, Ulla Vogel, Rajiv Kumar, Eduardo Nagore, José I. Mayordomo, Thorunn Rafnar, Jon H. Olafsson, Kari Stefansson

Hum Mol Genet. 2014 Jun 1; 23(11): 3045–3053. Published online 2014 Jan 8. doi: 10.1093/hmg/ddt671

PMCID:: PMC4014188

Abstract Article PDF–247K

Select item 367462013.

Polymorphisms in peptidylarginine deiminase associate with rheumatoid arthritis in diverse Asian populations: evidence from MyEIRA study and meta-analysis

Chun Lai Too, Shahnaz Murad, Jasbir Singh Dhaliwal, Per Larsson, Xia Jiang, Bo Ding, Lars Alfredsson, Lars Klareskog, Leonid Padyukov

Arthritis Res Ther. 2012; 14(6): R250. Published online 2012 Nov 19. doi: 10.1186/ar4093

PMCID:: PMC3674620

Abstract Article PDF–371K

Select item 339283914.

Myocardial citrullination in rheumatoid arthritis: a correlative histopathologic study

Jon T Giles, Justyna Fert-Bober, Jin Kyun Park, Clifton O Bingham, III, Felipe Andrade, Karen Fox-Talbot, Dimitrios Pappas, Antony Rosen, Jennifer van Eyk, Joan M Bathon, Marc K Halushka

Arthritis Res Ther. 2012; 14(1): R39. Published online 2012 Feb 24. doi: 10.1186/ar3752

PMCID:: PMC3392839

Abstract Article PDF–3.5M

Select item 317805915.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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