PMC Links for Gene (Select 80000) - PMC

Select item 110404531.

The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease

Emily Zhao, Miles Bomback, Atlas Khan, Sarath Krishna Murthy, David Solowiejczyk, Neeta L. Vora, Kelly L. Gilmore, Jessica L. Giordano, Ronald J. Wapner, Simone Sanna-Cherchi, Alex Lyford, Angie C. Jelin, Ali G. Gharavi, Thomas Hays

Prenat Diagn. Author manuscript; available in PMC 2024 Apr 24.

Published in final edited form as: Prenat Diagn. 2024 Mar; 44(3): 343–351. Published online 2024 Jan 29. doi: 10.1002/pd.6527

PMCID:: PMC11040453

Abstract Article PDF–748K

Select item 106445462.

GREB1L overexpression is associated with good clinical outcomes in breast cancer

Ke Dong, Chenchen Geng, Xiaohong Zhan, Zhi Sun, Qian Pu, Peng Li, Haiyun Song, Guanghui Zhao, Haidong Gao

Eur J Med Res. 2023; 28: 510. Published online 2023 Nov 14. doi: 10.1186/s40001-023-01483-y

PMCID:: PMC10644546

Abstract Article PDF–4.9M

Select item 101305003.

Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

Angad Jolly, Haowei Du, Christelle Borel, Na Chen, Sen Zhao, Christopher M. Grochowski, Ruizhi Duan, Jawid M. Fatih, Moez Dawood, Sejal Salvi, Shalini N. Jhangiani, Donna M. Muzny, André Koch, Konstantinos Rouskas, Stavros Glentis, Efthymios Deligeoroglou, Flora Bacopoulou, Carol A. Wise, Jennifer E. Dietrich, Ignatia B. Van den Veyver, Antigone S. Dimas, Sara Brucker, V. Reid Sutton, Richard A. Gibbs, Stylianos E. Antonarakis, Nan Wu, Zeynep H. Coban-Akdemir, Lan Zhu, Jennifer E. Posey, James R. Lupski

HGG Adv. 2023 Jul 13; 4(3): 100188. Published online 2023 Mar 29. doi: 10.1016/j.xhgg.2023.100188

PMCID:: PMC10130500

Abstract Article PDF–10M

Select item 96528194.

A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3

Sixian Wu, Xiang Wang, Siyu Dai, Guohui Zhang, Jiaojiao Zhou, Ying Shen

Orphanet J Rare Dis. 2022; 17: 413. Published online 2022 Nov 12. doi: 10.1186/s13023-022-02553-w

PMCID:: PMC9652819

Abstract Article PDF–3.9M

Select item 96480215.

A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana

Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Kevin Esoh, Anushree Acharya, Thashi Bharadwaj, Nicole S. Lin, Lucas Amenga-Etego, Gordon A. Awandare, Isabelle Schrauwen, Suzanne M. Leal, Ambroise Wonkam

BMC Med Genomics. 2022; 15: 237. Published online 2022 Nov 10. doi: 10.1186/s12920-022-01391-w

PMCID:: PMC9648021

Abstract Article PDF–5.5M

Select item 55863736.

A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans

Patrick D. Brophy, Maria Rasmussen, Mrutyunjaya Parida, Greg Bonde, Benjamin W. Darbro, Xiaojing Hong, Jason C. Clarke, Kevin A. Peterson, James Denegre, Michael Schneider, Caroline R. Sussman, Lone Sunde, Dorte L. Lildballe, Jens Michael Hertz, Robert A. Cornell, Stephen A. Murray, J. Robert Manak

Genetics. 2017 Sep; 207(1): 215–228. Published online 2017 Jul 26. doi: 10.1534/genetics.117.1125

PMCID:: PMC5586373

Abstract Article PDF–1.4M

Select item 56736367.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

Simone Sanna-Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita-Laza, Valentina P. Capone, David A. Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar A. Otto, Matthew G. Sampson, Christopher E. Gillies, Virginia Vega-Warner, Katarina Vukojevic, Igor Pediaditakis, Gabriel S. Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Lee Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, Joanna A.E. van Wijk, Adela Arapovic, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasic, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna-Materna Kiryluk, Shrikant Mane, David B. Goldstein, Richard P. Lifton, Nicholas Katsanis, Erica E. Davis, Ali G. Gharavi

Am J Hum Genet. 2017 Nov 2; 101(5): 789–802. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.018

Correction in:: Am J Hum Genet. 2017 Dec 7; 101(6): 1034.

PMCID:: PMC5673636

Abstract Article PDF–1.0M

Select item 56736698.

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel, Frédéric Tores, Stéphane Fouquet, Audrey Desgrange, Olivier Niel, Christine Bole-Feysot, Patrick Nitschké, Joëlle Roume, Marie-Pierre Cordier, Christine Pietrement, Bertrand Isidor, Philippe Khau Van Kien, Marie Gonzales, Marie-Hélène Saint-Frison, Jelena Martinovic, Robert Novo, Juliette Piard, Christelle Cabrol, Ishwar C. Verma, Ratna Puri, Hubert Journel, Jacqueline Aziza, Laurent Gavard, Marie-Hélène Said-Menthon, Laurence Heidet, Sophie Saunier, Cécile Jeanpierre

Am J Hum Genet. 2017 Nov 2; 101(5): 803–814. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.026

PMCID:: PMC5673669

Abstract Article PDF–2.4M

Select item 49935419.

BRCA2 mediates centrosome cohesion via an interaction with cytoplasmic dynein

Sadiya Malik, Hiroko Saito, Miho Takaoka, Yoshio Miki, Akira Nakanishi

Cell Cycle. 2016; 15(16): 2145–2156. Published online 2016 Jul 19. doi: 10.1080/15384101.2016.1195531

PMCID:: PMC4993541

Abstract Article PDF–1.6M

Select item 711664510.

Endogenous purification reveals GREB1 as a key Estrogen Receptor regulatory factor

Hisham Mohammed, Clive D’Santos, Aurelien A. Serandour, H. Raza Ali, Gordon. D. Brown, Alan Atkins, Oscar M. Rueda, Kelly A Holmes, Vasiliki Theodorou, Jessica L. L. Robinson, Wilbert Zwart, Amel Saadi, Caryn S. Ross-Innes, Suet-Feung Chin, Suraj Menon, John Stingl, Carlo Palmieri, Carlos Caldas, Jason S. Carroll

Cell Rep. Author manuscript; available in PMC 2021 Jan 29.

Published in final edited form as: Cell Rep. 2013 Feb 21; 3(2): 342–9. Published online 2013 Feb 9. doi: 10.1016/j.celrep.2013.01.010

PMCID:: PMC7116645

Abstract Article PDF–1.5M

Select item 796884411.

GREB1: An evolutionarily conserved protein with a glycosyltransferase domain links ERα glycosylation and stability to cancer

Eun Myoung Shin, Vinh Thang Huynh, Sultan Abda Neja, Chia Yi Liu, Anandhkumar Raju, Kelly Tan, Nguan Soon Tan, Jayantha Gunaratne, Xuezhi Bi, Lakshminarayan M. Iyer, L. Aravind, Vinay Tergaonkar

Sci Adv. 2021 Mar; 7(12): eabe2470. Published online 2021 Mar 17. doi: 10.1126/sciadv.abe2470

PMCID:: PMC7968844

Abstract Article PDF–1.1M

Select item 436785712.

New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing

Fernanda Luisa Basei, Gabriela Vaz Meirelles, Germanna Lima Righetto, Deivid Lucas dos Santos Migueleti, Juliana Helena Costa Smetana, Jörg Kobarg

Proteome Sci. 2015; 13: 11. Published online 2015 Feb 26. doi: 10.1186/s12953-015-0065-6

PMCID:: PMC4367857

Abstract Article PDF–3.1M

Select item 563060013.

Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism

Giulia Antoniali, Fabrizio Serra, Lisa Lirussi, Mikiei Tanaka, Chiara D’Ambrosio, Shiheng Zhang, Slobodanka Radovic, Emiliano Dalla, Yari Ciani, Andrea Scaloni, Mengxia Li, Silvano Piazza, Gianluca Tell

Nat Commun. 2017; 8: 797. Published online 2017 Oct 6. doi: 10.1038/s41467-017-00842-8

PMCID:: PMC5630600

Abstract Article PDF–2.3M

Select item 674682214.

The RNA-mediated estrogen receptor α interactome of hormone-dependent human breast cancer cell nuclei

Giovanni Nassa, Giorgio Giurato, Annamaria Salvati, Valerio Gigantino, Giovanni Pecoraro, Jessica Lamberti, Francesca Rizzo, Tuula A. Nyman, Roberta Tarallo, Alessandro Weisz

Sci Data. 2019; 6: 173. Published online 2019 Sep 16. doi: 10.1038/s41597-019-0179-2

PMCID:: PMC6746822

Abstract Article PDF–2.0M

Select item 582692615.

VIRMA mediates preferential m⁶A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation

Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu

Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0

PMCID:: PMC5826926

Abstract Article PDF–2.3M

Select item 616668216.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 553161117.

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 816503018.

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 13924119.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

Select item 317805920.

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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