PMC Links for Gene (Select 8242) - PMC

Links from Gene

Items: 1 to 20 of 75

<< First< Prev

Page of 4

Select item 102471531.

Chromatin Sensing by the Auxiliary Domains of KDM5C Regulates Its Demethylase Activity and Is Disrupted by X-linked Intellectual Disability Mutations

Fatima S. Ugur, Mark J. S. Kelly, Danica Galonić Fujimori

J Mol Biol. Author manuscript; available in PMC 2023 Jun 7.

Published in final edited form as: J Mol Biol. 2023 Jan 30; 435(2): 167913. Published online 2022 Dec 7. doi: 10.1016/j.jmb.2022.167913

PMCID:: PMC10247153

Abstract Article PDF–2.1M

Select item 99050632.

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants

Emanuela Leonardi, Maria Cristina Aspromonte, Denise Drongitis, Elisa Bettella, Lucia Verrillo, Roberta Polli, Meriel McEntagart, Laura Licchetta, Robertino Dilena, Stefano D’Arrigo, Claudia Ciaccio, Silvia Esposito, Vincenzo Leuzzi, Annalaura Torella, Demetrio Baldo, Fortunato Lonardo, Giulia Bonato, Serena Pellegrin, Franco Stanzial, Renata Posmyk, Ewa Kaczorowska, Miryam Carecchio, Monika Gos, Sylwia Rzońca-Niewczas, Maria Giuseppina Miano, Alessandra Murgia

Eur J Hum Genet. 2023 Feb; 31(2): 202–215. Published online 2022 Nov 25. doi: 10.1038/s41431-022-01233-4

PMCID:: PMC9905063

Abstract Article PDF–1.5M

Select item 89307843.

Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes-Jensen syndrome

Hayden A. M. Hatch, Julie Secombe

FEBS J. Author manuscript; available in PMC 2022 Dec 23.

Published in final edited form as: FEBS J. 2022 Dec; 289(24): 7776–7787. Published online 2021 Sep 29. doi: 10.1111/febs.16204

PMCID:: PMC8930784

Abstract Article PDF–618K

Select item 84463024.

Caregiver-reported characteristics of children diagnosed with pathogenic variants in KDM5C

Hayden A. M. Hatch, Molly H. O’Neil, Robert W. Marion, Julie Secombe, Lisa H. Shulman

Am J Med Genet A. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Am J Med Genet A. 2021 Oct; 185(10): 2951–2958. Published online 2021 Jun 4. doi: 10.1002/ajmg.a.62381

PMCID:: PMC8446302

Abstract Article PDF–104K

Select item 84190585.

Deficiency of the X-inactivation escaping gene KDM5C in clear cell renal cell carcinoma promotes tumorigenicity by reprogramming glycogen metabolism and inhibiting ferroptosis

Qian Zheng, Pengfei Li, Xin Zhou, Yulong Qiang, Jiachen Fan, Yan Lin, Yurou Chen, Jing Guo, Fan Wang, Haihua Xue, Jie Xiong, Feng Li

Theranostics. 2021; 11(18): 8674–8691. Published online 2021 Aug 4. doi: 10.7150/thno.60233

PMCID:: PMC8419058

Abstract Article PDF–3.2M

Select item 80973666.

The Dual Function of KDM5C in Both Gene Transcriptional Activation and Repression Promotes Breast Cancer Cell Growth and Tumorigenesis

Hai‐feng Shen, Wen‐juan Zhang, Ying Huang, Yao‐hui He, Guo‐sheng Hu, Lei Wang, Bing‐ling Peng, Jia Yi, Ting‐ting Li, Rui Rong, Xiao‐yan Chen, Jun‐yi Liu, Wen‐juan Li, Kenny Ohgi, Shao‐Wei Li, Michael G. Rosenfeld, Wen Liu

Adv Sci (Weinh) 2021 May; 8(9): 2004635. Published online 2021 Feb 18. doi: 10.1002/advs.202004635

PMCID:: PMC8097366

Abstract Article PDF–6.1M

Select item 80894857.

Predictive Value of KDM5C Alterations for Immune Checkpoint Inhibitors Treatment Outcomes in Patients With Cancer

Xiao-Juan Chen, Ai-Qun Ren, Liang Zheng, En-Dian Zheng

Front Immunol. 2021; 12: 664847. Published online 2021 Apr 19. doi: 10.3389/fimmu.2021.664847

PMCID:: PMC8089485

Abstract Article PDF–4.9M

Select item 51181278.

Cofactors loaded quaternary structure of Lysine-specific demethylase 5C (KDM5C) protein: Computational model

Yunhui Peng, Emil Alexov

Proteins. Author manuscript; available in PMC 2017 Dec 1.

Published in final edited form as: Proteins. 2016 Dec; 84(12): 1797–1809. Published online 2016 Oct 1. doi: 10.1002/prot.25162

PMCID:: PMC5118127

Abstract Article PDF–1.0M

Select item 48567839.

New Insights Into Intellectual Disability Caused by Mutations in a Chromatin Regulator

Emily Brookes

EBioMedicine. 2016 Apr; 6: 2–3. Published online 2016 Apr 4. doi: 10.1016/j.ebiom.2016.04.001

PMCID:: PMC4856783

Article PDF–313K

Select item 466188010.

Mutations in the KDM5C ARID Domain and Their Plausible Association with Syndromic Claes-Jensen-Type Disease

Yunhui Peng, Jimmy Suryadi, Ye Yang, Tugba G. Kucukkal, Weiguo Cao, Emil Alexov

Int J Mol Sci. 2015 Nov; 16(11): 27270–27287. Published online 2015 Nov 13. doi: 10.3390/ijms161126022

PMCID:: PMC4661880

Abstract Article PDF–3.7M

Select item 440629711.

Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity

Emily Brookes, Benoit Laurent, Katrin Õunap, Renee Carroll, John B. Moeschler, Michael Field, Charles E. Schwartz, Jozef Gecz, Yang Shi

Hum Mol Genet. 2015 May 15; 24(10): 2861–2872. Published online 2015 Feb 9. doi: 10.1093/hmg/ddv046

PMCID:: PMC4406297

Abstract Article PDF–846K

Select item 357394712.

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C

Daria Grafodatskaya, Barian HY Chung, Darci T Butcher, Andrei L Turinsky, Sarah J Goodman, Sana Choufani, Yi-An Chen, Youliang Lou, Chunhua Zhao, Rageen Rajendram, Fatima E Abidi, Cindy Skinner, James Stavropoulos, Carolyn A Bondy, Jill Hamilton, Shoshana Wodak, Stephen W Scherer, Charles E Schwartz, Rosanna Weksberg

BMC Med Genomics. 2013; 6: 1. Published online 2013 Jan 28. doi: 10.1186/1755-8794-6-1

PMCID:: PMC3573947

Abstract Article PDF–1.7M

Select item 298721213.

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation

Sinitdhorn Rujirabanjerd, John Nelson, Patrick S Tarpey, Anna Hackett, Sarah Edkins, F Lucy Raymond, Charles E Schwartz, Gillian Turner, Shigeki Iwase, Yang Shi, P Andrew Futreal, Michael R Stratton, Jozef Gecz

Eur J Hum Genet. 2010 Mar; 18(3): 330–335. Published online 2009 Oct 14. doi: 10.1038/ejhg.2009.175

Correction in:: Eur J Hum Genet. 2012 Sep; 20(9): 1010.

PMCID:: PMC2987212

Abstract Article PDF–433K

Select item 284051514.

Genome-wide siRNA screen identifies SMCX, EP400, and Brd4 as E2-dependent regulators of human papillomavirus oncogene expression

Jennifer A. Smith, Elizabeth A. White, Mathew E. Sowa, Maria L. C. Powell, Matthias Ottinger, J. Wade Harper, Peter M. Howley

Proc Natl Acad Sci U S A. 2010 Feb 23; 107(8): 3752–3757. Published online 2010 Feb 2. doi: 10.1073/pnas.0914818107

PMCID:: PMC2840515

Abstract Article PDF–1.0M

Select item 119636815.

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Lars Riff Jensen, Marion Amende, Ulf Gurok, Bettina Moser, Verena Gimmel, Andreas Tzschach, Andreas R. Janecke, Gholamali Tariverdian, Jamel Chelly, Jean-Pierre Fryns, Hilde Van Esch, Tjitske Kleefstra, Ben Hamel, Claude Moraine, Jozef Gécz, Gillian Turner, Richard Reinhardt, Vera M. Kalscheuer, Hans-Hilger Ropers, Steffen Lenzner

Am J Hum Genet. 2005 Feb; 76(2): 227–236. Published online 2004 Dec 7. doi: 10.1086/427563

PMCID:: PMC1196368

Abstract Article PDF–418K

Select item 1095454716.

WNT signalling control by KDM5C during development affects cognition

Violetta Karwacki-Neisius, Ahram Jang, Engin Cukuroglu, Albert Tai, Alan Jiao, Danilo Predes, Joon Yoon, Emily Brookes, Jiekai Chen, Aimee Iberg, Florian Halbritter, Katrin Õunap, Jozef Gecz, Thorsten M. Schlaeger, Shannan Ho Sui, Jonathan Göke, Xi He, Maria K. Lehtinen, Scott L. Pomeroy, Yang Shi

Nature. 2024; 627(8004): 594–603. Published online 2024 Feb 21. doi: 10.1038/s41586-024-07067-y

PMCID:: PMC10954547

Abstract Article PDF–27M

Select item 999191817.

The histone demethylase KDM5C functions as a tumor suppressor in AML by repression of bivalently marked immature genes

Mette Louise Trempenau, Mikkel Bruhn Schuster, Sachin Pundhir, Mafalda Araujo Pereira, Adrija Kalvisa, Marta Tapia, Jinyu Su, Ying Ge, Bauke de Boer, Alexander Balhuizen, Frederik Otzen Bagger, Pavel Shliaha, Patrycja Sroczynska, Julian Walfridsson, Kirsten Grønbæk, Kim Theilgaard-Mönch, Ole N. Jensen, Kristian Helin, Bo T. Porse

Leukemia. 2023; 37(3): 593–605. Published online 2023 Jan 12. doi: 10.1038/s41375-023-01810-6

PMCID:: PMC9991918

Abstract Article PDF–2.4M

Select item 482647918.

Suppression of Enhancer Overactivation by a RACK7-Histone Demethylase Complex

Hongjie Shen, Wenqi Xu, Rui Guo, Bowen Rong, Lei Gu, Zhentian Wang, Chenxi He, Lijuan Zheng, Xin Hu, Zhen Hu, Zhi-Ming Shao, Pengyuan Yang, Feizhen Wu, Yujiang Geno Shi, Yang Shi, Fei Lan

Cell. Author manuscript; available in PMC 2017 Apr 7.

Published in final edited form as: Cell. 2016 Apr 7; 165(2): 331–342. doi: 10.1016/j.cell.2016.02.064

PMCID:: PMC4826479

Abstract Article PDF–993K

Select item 466578419.

Histone demethylase JARID1C inactivation triggers genomic instability in sporadic renal cancer

Beatrice Rondinelli, Dalia Rosano, Elena Antonini, Michela Frenquelli, Laura Montanini, DaChuan Huang, Simona Segalla, Kosuke Yoshihara, Samir B. Amin, Dejan Lazarevic, Bin Tean The, Roel G.W. Verhaak, P. Andrew Futreal, Luciano Di Croce, Lynda Chin, Davide Cittaro, Giovanni Tonon

J Clin Invest. 2015 Dec 1; 125(12): 4625–4637. Published online 2015 Nov 9. doi: 10.1172/JCI81040

Correction in:: J Clin Invest. 2016 Nov 1; 126(11): 4387.

PMCID:: PMC4665784

Abstract Article PDF–4.5M

Select item 435770420.

H3K4me3 demethylation by the histone demethylase KDM5C/JARID1C promotes DNA replication origin firing

Beatrice Rondinelli, Hélène Schwerer, Elena Antonini, Marco Gaviraghi, Alessio Lupi, Michela Frenquelli, Davide Cittaro, Simona Segalla, Jean-Marc Lemaitre, Giovanni Tonon

Nucleic Acids Res. 2015 Mar 11; 43(5): 2560–2574. Published online 2015 Feb 23. doi: 10.1093/nar/gkv090

PMCID:: PMC4357704

Abstract Article PDF–1.6M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 75

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity