Angela Hadjipanayis

ORCID: 0000-0002-9553-6523
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About
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Research Areas
  • Cancer Genomics and Diagnostics
  • Epigenetics and DNA Methylation
  • RNA modifications and cancer
  • Glioma Diagnosis and Treatment
  • Genomic variations and chromosomal abnormalities
  • Chromatin Remodeling and Cancer
  • Viral Infections and Outbreaks Research
  • Bacillus and Francisella bacterial research
  • Cancer, Hypoxia, and Metabolism
  • Ovarian cancer diagnosis and treatment
  • Genomics and Rare Diseases
  • PI3K/AKT/mTOR signaling in cancer
  • Neutrophil, Myeloperoxidase and Oxidative Mechanisms
  • Cell Adhesion Molecules Research
  • Prostate Cancer Treatment and Research
  • Diet and metabolism studies
  • Immunotherapy and Immune Responses
  • Renal cell carcinoma treatment
  • Metabolism, Diabetes, and Cancer
  • Chemokine receptors and signaling
  • BRCA gene mutations in cancer
  • Endometrial and Cervical Cancer Treatments
  • Cancer, Lipids, and Metabolism
  • Prostate Cancer Diagnosis and Treatment
  • MicroRNA in disease regulation

Sanofi (United States)
2023-2025

AVEO Oncology (United States)
2024

Brigham and Women's Hospital
2011-2022

Pfizer (United States)
2019-2022

Harvard University
2010-2022

Harvard University Press
2013-2015

National Institutes of Health
2014-2015

University of North Carolina at Chapel Hill
2014

University of Michigan
2014

Emory University
2014

Gad Getz Stacey B. Gabriel Kristian Cibulskis Eric Lander Andrey Sivachenko and 95 more Carrie Sougnez Robert Lawrence Cyriac Kandoth David J. Dooling Robert W. Fulton Lucinda Fulton Joelle Kalicki-Veizer Michael D. McLellan Michelle D. O’Laughlin Heather K. Schmidt Richard K. Wilson Kai Ye Li Ding Adrian Ally Miruna Balasundaram İnanç Birol Yaron S.N. Butterfield Rebecca Carlsen Candace Carter Andy Chu Eric Chuah Hye Jung E. Chun Noreen Dhalla Ranabir Guin Carrie Hirst Robert A. Holt Steven J.M. Jones Darlene Lee Haiyan I. Li Marco A. Marra Michael Mayo Richard A. Moore Andrew J. Mungall Patrick Plettner Jacqueline E. Schein Payal Sipahimalani Angela Tam Richard Varhol A. Gordon Robertson Andrew D. Cherniack Itai Pashtan Gordon Saksena Robert C. Onofrio Steven E. Schumacher Barbara Tabak Scott L. Carter Bryan Hernandez Jeff Gentry Helga B. Salvesen Kristin Ardlie Wendy Winckler Rameen Beroukhim Matthew Meyerson Angela Hadjipanayis Semin Lee Harshad S. Mahadeshwar Peter J. Park Alexei Protopopov Xiaojia Ren Sahil Seth Xingzhi Song Jiabin Tang Ruibin Xi Lixing Yang Zeng Dong Raju Kucherlapati Lynda Chin Jianhua Zhang J. Todd Auman Saianand Balu Tom Bodenheimer Elizabeth Buda D. Neil Hayes Alan P. Hoyle Joshua M. Stuart Corbin D. Jones Shaowu Meng Piotr A. Mieczkowski Lisle E. Mose Joel S. Parker Charles M. Perou Jeffrey Roach Yan Shi Janae V. Simons Mathew G. Soloway Donghui Tan Michael D. Topal Stephen C. Waring Junyuan Wu Katherine A. Hoadley Stephen B. Baylin Moiz Bootwalla Phillip H. Lai Timothy J. Triche David Van Den Berg

We performed an integrated genomic, transcriptomic and proteomic characterization of 373 endometrial carcinomas using array- sequencing-based technologies. Uterine serous tumours ∼25% high-grade endometrioid had extensive copy number alterations, few DNA methylation changes, low oestrogen receptor/progesterone receptor levels, frequent TP53 mutations. Most alterations or mutations, but mutations in PTEN, CTNNB1, PIK3CA, ARID1A KRAS novel the SWI/SNF chromatin remodelling complex gene ARID5B....

10.1038/nature12113 article EN cc-by-nc-sa Nature 2013-04-30
Cameron Brennan Roel G.W. Verhaak Aaron McKenna Benito Campos Houtan Noushmehr and 95 more Sofie R. Salama Siyuan Zheng Debyani Chakravarty Zack Sanborn Samuel H. Berman Rameen Beroukhim Brady Bernard Chang‐Jiun Wu Giannicola Genovese Ilya Shmulevich Jill S. Barnholtz‐Sloan Lihua Zou Rahulsimham Vegesna Sachet A. Shukla Giovanni Ciriello W. K. Alfred Yung Wei Zhang Carrie Sougnez Tom Mikkelsen Kenneth Aldape Darell D. Bigner Erwin G. Van Meir Michael D. Prados Andrew E. Sloan Keith L. Black Jennifer Eschbacher Gaetano Finocchiaro William A. Friedman David W. Andrews Abhijit Guha Mary Iacocca Brian Patrick O’Neill Greg Foltz Jerome Myers Daniel J. Weisenberger Robert Penny Raju Kucherlapati Charles M. Perou D. Neil Hayes Richard A. Gibbs Marco A. Marra Gordon B. Mills Eric S. Lander Paul T. Spellman Richard K. Wilson Chris Sander John N. Weinstein Matthew Meyerson Stacey Gabriel Peter W. Laird David Haussler Gad Getz Lynda Chin Christopher C. Benz Jill S. Barnholtz‐Sloan Wendi Barrett Quinn T. Ostrom Yingli Wolinsky Keith L. Black Bikash Bose Paul T. Boulos Madgy Boulos Jenn Brown Christine Czerinski Matthew Eppley Mary Iacocca Thelma Kempista Teresa Kitko Yakov Koyfman Brenda Rabeno Pawan Rastogi Michael C. Sugarman Patricia Swanson Kennedy Yalamanchii Ilana P. Otey Yingchun Spring Liu Yonghong Xiao J. Todd Auman Peng‐Chieh Chen Angela Hadjipanayis Eunjung Lee Semin Lee Peter J. Park Jonathan G. Seidman Lixing Yang Raju Kucherlapati Steven N. Kalkanis Tom Mikkelsen Laila Poisson Aditya Raghunathan Lisa Scarpace Brady Bernard Ryan Bressler Andrea Eakin Lisa Iype

10.1016/j.cell.2013.09.034 article EN publisher-specific-oa Cell 2013-10-01
Michael S. Lawrence Carrie Sougnez Lee Lichtenstein Kristian Cibulskis Eric S. Lander and 95 more Stacey Gabriel Gad Getz Adrian Ally Miruna Balasundaram İnanç Birol Reanne Bowlby Denise Brooks Yaron S.N. Butterfield Rebecca Carlsen Dean Cheng Andy Chu Noreen Dhalla Ranabir Guin Robert A. Holt Steven J.M. Jones Darlene Lee Haiyan I. Li Marco A. Marra Michael Mayo Richard A. Moore Andrew J. Mungall A. Gordon Robertson Jacqueline E. Schein Payal Sipahimalani Angela Tam Nina Thiessen Tina Wong Alexei Protopopov Netty Santoso Semin Lee Michael Parfenov Jianhua Zhang Harshad S. Mahadeshwar Jiabin Tang Xiaojia Ren Sahil Seth Psalm Haseley Dong Zeng Lixing Yang Andrew Wei Xu Xingzhi Song Angeliki Pantazi Christopher A. Bristow Angela Hadjipanayis Jonathan G. Seidman Lynda Chin Peter J. Park Raju Kucherlapati Rehan Akbani Tod D. Casasent Wenbin Liu Yiling Lu Gordon B. Mills Thomas Motter John N. Weinstein Lixia Diao Jing Wang You Hong Fan Jinze Liu Kai Wang J. Todd Auman Saianand Balu Thomas Bodenheimer Elizabeth Buda D. Neil Hayes Katherine A. Hoadley Alan P. Hoyle Joshua M. Stuart Corbin D. Jones Patrick K. Kimes Yufeng Liu J. S. Marron Shaowu Meng Piotr A. Mieczkowski Lisle E. Mose Joel S. Parker Charles M. Perou Jan F. Prins Jeffrey Roach Yan Shi Janae V. Simons Darshan Singh Matthew G. Soloway Donghui Tan Umadevi Veluvolu Vonn Walter Stephen C. Waring Matthew D. Wilkerson Junyuan Wu Ni Zhao Andrew D. Cherniack Peter S. Hammerman Aaron D. Tward Chandra Sekhar Pedamallu Gordon Saksena

The Cancer Genome Atlas profiled 279 head and neck squamous cell carcinomas (HNSCCs) to provide a comprehensive landscape of somatic genomic alterations. Here we show that human-papillomavirus-associated tumours are dominated by helical domain mutations the oncogene PIK3CA, novel alterations involving loss TRAF3, amplification cycle gene E2F1. Smoking-related HNSCCs demonstrate near universal loss-of-function TP53 CDKN2A inactivation with frequent copy number including 3q26/28 11q13/22. A...

10.1038/nature14129 article EN cc-by-nc-sa Nature 2015-01-27
Adam Abeshouse Jaeil Ahn Rehan Akbani Adrian Ally Samirkumar B. Amin and 95 more Chris Andry Matti Annala Armen Aprikian Joshua Armenia Arshi Arora J. Todd Auman Miruna Balasundaram Saianand Balu Christopher E. Barbieri Thomas Bauer Christopher C. Benz Alain Bergeron Rameen Beroukhim Mario Berríos Adrian Bivol Tom Bodenheimer Lori Boice Arnoud Boot Rodolfo Borges dos Reis Paul C. Boutros Jay Bowen Reanne Bowlby Jeffrey M. Boyd Robert K. Bradley Anne Breggia Fadi Brimo Christopher A. Bristow Denise Brooks Bradley M. Broom Alan H. Bryce Glenn J. Bubley Eric Burks Yaron S.N. Butterfield M. Button David Canes Carlos Gilberto Carlotti Rebecca Carlsen Michel Carmel Peter R. Carroll Scott L. Carter Richard W. Cartun Brett S. Carver June M. Chan Matthew T. Chang Yu Chen Andrew D. Cherniack Simone Chevalier Lynda Chin Juok Cho Andy Chu Eric Chuah Sudha Chudamani Kristian Cibulskis Giovanni Ciriello Amanda Clarke Matthew R. Cooperberg Niall M. Corcoran Anthony J. Costello Janet E. Cowan Daniel Crain Erin Curley Kerstin A. David John A. Demchok Francesca Demichelis Noreen Dhalla Rajiv Dhir Alexandre A. Doueik Bettina F. Drake Heidi Dvinge Natalya Dyakova Ina Felau Martin L. Ferguson Scott Frazer Stephen J. Freedland Yao Fu Stacey Gabriel Jianjiong Gao Johanna Gardner Julie M. Gastier-Foster Nils Gehlenborg Mark Gerken Mark Gerstein Gad Getz Andrew K. Godwin Anuradha Gopalan Markus Graefen Kiley Graim Thomas Gribbin Ranabir Guin Manaswi Gupta Angela Hadjipanayis Syed Haider Lucie Hamel D. Neil Hayes David I. Heiman

10.1016/j.cell.2015.10.025 article EN publisher-specific-oa Cell 2015-11-01
Nishant Agrawal Rehan Akbani Bülent Arman Aksoy Adrian Ally Harindra Arachchi and 95 more L. Sylvia J. Todd Auman Miruna Balasundaram Saianand Balu Stephen B. Baylin Madhusmita Behera Brady Bernard Rameen Beroukhim Justin A. Bishop Aaron D. Black Tom Bodenheimer Lori Boice Arnoud Boot Jay Bowen Reanne Bowlby Christopher A. Bristow Robin Brookens Denise Brooks Robert Bryant Elizabeth Buda Yaron S.N. Butterfield Tobias Carling Rebecca Carlsen Scott L. Carter Sally E. Carty Timothy A. Chan Amy Y. Chen Andrew D. Cherniack Dorothy Cheung Lynda Chin Juok Cho Andy Chu Eric Chuah Kristian Cibulskis Giovanni Ciriello Amanda Clarke Gary L. Clayman Leslie Cope John A. Copland Kyle R. Covington Ludmila Danilova Tanja M. Davidsen John A. Demchok Daniel DiCara Noreen Dhalla Rajiv Dhir Sheliann S. Dookran Gideon Dresdner Jonathan Eldridge Greg Eley Adel K. El‐Naggar Stephanie Eng James A. Fagin Timothy R. Fennell Robert L. Ferris Sheila Fisher Scott Frazer Jessica Frick Stacey Gabriel Ian Ganly Jianjiong Gao Levi A. Garraway Julie M. Gastier-Foster Gad Getz Nils Gehlenborg Ronald Ghossein Richard A. Gibbs Thomas J. Giordano Karen Gomez-Hernandez Jonna Grimsby Benjamin Groß Ranabir Guin Angela Hadjipanayis Hollie A. Harper D. Neil Hayes David I. Heiman James G. Herman Katherine A. Hoadley Matan Hofree Robert A. Holt Alan P. Hoyle Franklin W. Huang Mei Huang Carolyn M. Hutter Trey Ideker Lisa Iype Anders J. Skanderup Joshua M. Stuart Corbin D. Jones Steven J.M. Jones L. Sylvia Electron Kebebew Fadlo R. Khuri Jaegil Kim Roger Kramer

<h2>Summary</h2> Papillary thyroid carcinoma (PTC) is the most common type of cancer. Here, we describe genomic landscape 496 PTCs. We observed a low frequency somatic alterations (relative to other carcinomas) and extended set known PTC driver include <i>EIF1AX</i>, <i>PPM1D</i>, <i>CHEK2</i> diverse gene fusions. These discoveries reduced fraction cases with unknown oncogenic from 25% 3.5%. Combined analyses variants, expression, methylation demonstrated that different groups lead...

10.1016/j.cell.2014.09.050 article EN cc-by-nc-nd Cell 2014-10-01
Michele Ceccarelli Floris P Barthel Tathiane M. Malta Thaís S. Sabedot Sofie R. Salama and 95 more Bradley A. Murray Olena Morozova Yulia Newton Amie Radenbaugh Stefano Maria Pagnotta Samreen Anjum Jiguang Wang Ganiraju C. Manyam Pietro Zoppoli Shiyun Ling Arjun A. Rao Mia Grifford Andrew D. Cherniack Hailei Zhang Laila Poisson Carlos Gilberto Carlotti Daniela Pretti da Cunha Tirapelli Arvind Rao Tom Mikkelsen Ching C. Lau W. K. Alfred Yung Raúl Rabadán Jason T. Huse Daniel J. Brat Norman L. Lehman Jill S. Barnholtz‐Sloan Siyuan Zheng Kenneth R. Hess Ganesh Rao Matthew Meyerson Rameen Beroukhim Lee Cooper Rehan Akbani Margaret Wrensch David Haussler Kenneth D. Aldape Peter W. Laird David H. Gutmann Houtan Noushmehr Antonio Iavarone Roel G.W. Verhaak Samreen Anjum Harindra Arachchi J. Todd Auman Miruna Balasundaram Saianand Balu Gene H. Barnett Stephen Baylin Sue Bell Christopher C. Benz Natalie Bir Keith L. Black Tom Bodenheimer Lori Boice Arnoud Boot Jay Bowen Christopher A. Bristow Yaron S.N. Butterfield Qingrong Chen Lynda Chin Juok Cho Eric Chuah Sudha Chudamani Simon G. Coetzee Mark L. Cohen Howard Colman Marta Couce Fulvio D’Angelo Tanja M. Davidsen Amy Davis John A. Demchok Karen Devine Li Ding Rebecca Duell J. Bradley Elder Jennifer Eschbacher Ashley Fehrenbach Martin L. Ferguson Scott Frazer Gregory N. Fuller Jordonna Fulop Stacey Gabriel Luciano Garofano Julie M. Gastier-Foster Nils Gehlenborg Mark Gerken Gad Getz Caterina Giannini William J. Gibson Angela Hadjipanayis D. Neil Hayes David I. Heiman Beth Hermes Joe Hilty Katherine A. Hoadley

10.1016/j.cell.2015.12.028 article EN publisher-specific-oa Cell 2016-01-01
Michael Parfenov Chandra Sekhar Pedamallu Nils Gehlenborg Samuel S. Freeman Ludmila Danilova and 95 more Christopher A. Bristow Semin Lee Angela Hadjipanayis Elena Ivanova Matthew D. Wilkerson Alexei Protopopov Lixing Yang Sahil Seth Xingzhi Song Jiabin Tang Xiaojia Ren Jianhua Zhang Angeliki Pantazi Netty Santoso Andrew Wei Xu Harshad S. Mahadeshwar David A. Wheeler Robert I. Haddad Joonil Jung Akinyemi I. Ojesina Natalia Issaeva Wendell G. Yarbrough D. Neil Hayes Jennifer R. Grandis Adel K. El‐Naggar Matthew Meyerson Peter J. Park Lynda Chin Jonathan G. Seidman Peter S. Hammerman Raju Kucherlapati Adrian Ally Miruna Balasundaram İnanç Birol Reanne Bowlby Yaron S.N. Butterfield Rebecca Carlsen Dean Cheng Andy Chu Noreen Dhalla Ranabir Guin Robert A. Holt Steven J.M. Jones Darlene Lee Haiyan I. Li Marco A. Marra Michael Mayo Richard A. Moore Andrew J. Mungall A. Gordon Robertson Jacqueline E. Schein Payal Sipahimalani Angela Tam Nina Thiessen Tina Wong Alexei Protopopov Netty Santoso Semin Lee Michael Parfenov Jianhua Zhang Harshad S. Mahadeshwar Jiabin Tang Xiaojia Ren Sahil Seth Psalm Haseley Dong Zeng Lixing Yang Andrew Wei Xu Xingzhi Song Angeliki Pantazi Christopher A. Bristow Angela Hadjipanayis Jonathan G. Seidman Lynda Chin Peter J. Park Raju Kucherlapati Rehan Akbani Tod D. Casasent Wenbin Liu Yiling Lu Gordon B. Mills Thomas Motter John N. Weinstein Lixia Diao Jing Wang You Hong Fan Jinze Liu Kai Wang J. Todd Auman Saianand Balu Tom Bodenheimer Elizabeth Buda D. Neil Hayes Katherine A. Hoadley Alan P. Hoyle

Significance A significant proportion of head and neck cancer is driven by human papillomavirus (HPV) infection, the expression viral oncogenes involved in development these tumors. However, role HPV integration primary tumors beyond increasing oncoproteins not understood. Here, we describe how impacts host genome amplification disruption tumor suppressors as well driving inter- intrachromosomal rearrangements. Tumors that do have integrants display distinct gene profiles DNA methylation...

10.1073/pnas.1416074111 article EN Proceedings of the National Academy of Sciences 2014-10-13

DNA copy number variations (CNVs) play an important role in the pathogenesis and progression of cancer confer susceptibility to a variety human disorders. Array comparative genomic hybridization has been used widely identify CNVs genome wide, but next-generation sequencing technology provides opportunity characterize wide with unprecedented resolution. In this study, we developed algorithm detect from whole-genome data applied it newly sequenced glioblastoma matched control. This read-depth...

10.1073/pnas.1110574108 article EN Proceedings of the National Academy of Sciences 2011-11-07

Somatic mtDNA mutations have been reported in some human tumors, but their spectrum different malignancies and role cancer development remain incompletely understood. Here, we describe the breadth of somatic inherited across mitochondrial genome by sequence analyses paired tumor normal tissue samples from 226 individuals with five types using whole-genome data generated The Cancer Genome Atlas Research Network. frequencies deleterious tumor-specific found varied types, ranging 13%...

10.1073/pnas.1211502109 article EN Proceedings of the National Academy of Sciences 2012-08-13

Abstract Lung cancer is the second most frequently diagnosed and leading cause of cancer-related mortality worldwide. Tumour ecosystems feature diverse immune cell types. Myeloid cells, in particular, are prevalent have a well-established role promoting disease. In our study, we profile approximately 900,000 cells from 25 treatment-naive patients with adenocarcinoma squamous-cell carcinoma by single-cell spatial transcriptomics. We note an inverse relationship between anti-inflammatory...

10.1038/s41467-024-48700-8 article EN cc-by Nature Communications 2024-05-23

A systematic cataloging of genes affected by genomic rearrangement, using multiple patient cohorts and cancer types, can provide insight into cancer-relevant alterations outside exomes. By integrative analysis whole-genome sequencing (predominantly low pass) gene expression data from 1,448 cancers involving 18 histopathological types in The Cancer Genome Atlas, we identified hundreds for which the nearby presence (within 100 kb) a somatic structural variant (SV) breakpoint is associated with...

10.1016/j.celrep.2018.06.025 article EN cc-by Cell Reports 2018-07-01

Genomic rearrangements exert a heavy influence on the molecular landscape of cancer. New analytical approaches integrating somatic structural variants (SSVs) with altered gene features represent framework by which we can assign global significance to core set genes, analogous established methods that identify genes non-randomly targeted mutation or copy number alteration. While recent studies have defined broad patterns association involving transcription and nearby SSV breakpoints,...

10.1186/s13059-019-1818-9 article EN cc-by Genome biology 2019-10-14

Objective Neutrophils are typically the most abundant leucocyte in arthritic synovial fluid. We sought to understand changes that occur neutrophils as they migrate from blood joint. Methods performed RNA sequencing of healthy human blood, and fluid, comparing transcriptional signatures with those murine K/BxN serum transfer arthritis. employed mass cytometry quantify protein expression reproduce fluid phenotype ex vivo cultured neutrophils. Results Blood donors patients active arthritis...

10.1136/annrheumdis-2021-221866 article EN Annals of the Rheumatic Diseases 2022-02-15

Branched chain amino acid (BCAA) catabolic defects are implicated to be causal determinates of multiple diseases. This work aimed better understand how enhancing BCAA catabolism affected metabolic homeostasis as well the mechanisms underlying these improvements. The rate limiting step is irreversible decarboxylation by branched ketoacid dehydrogenase (BCKDH) enzyme complex, which post-translationally controlled through phosphorylation BCKDH kinase (BDK). study utilized BT2, a small molecule...

10.1016/j.molmet.2022.101611 article EN cc-by-nc-nd Molecular Metabolism 2022-10-08

Fusion genes represent a class of attractive therapeutic targets. Thousands fusion have been identified in patients with cancer, but the functional consequences and implications most these remain largely unknown. Here, we develop genomic approach that consists efficient reconstruction sensitive cell viability drug response assays. Applying this approach, characterize ~100 detected patient samples The Cancer Genome Atlas, revealing notable fraction low-frequency fusions activating effects on...

10.1126/sciadv.abm2382 article EN cc-by-nc Science Advances 2022-02-11

Abstract Mechanism of action studies are imperative for translating oncology therapeutics into the clinic informing testable hypotheses and potential combination partners. One class therapeutics, immune-stimulatory cytokines can augment antitumor efficacy checkpoint blockade, but further translational work is required to understand beneficial treatment effects versus unwanted immunotoxicities. SAR445877 (SAR’877, formerly KD050), a novel antibody-cytokine fusion protein consisting an Fc...

10.1158/1538-7445.am2025-6064 article EN Cancer Research 2025-04-21

Abstract CAR T-cells have set a new standard of clinical activity in patients with hematologic malignancies but there are several barriers to broader patient access. Currently, the genetic modification patients' T cells produce CAR-T cell therapies is carried out ex vivo before infusing back into patient, using methods that complex and hinder widespread use. Here we share targeted lipid nanoparticle (LNP) encapsulating mRNA reprogram circulating human vivo, designed overcome significant...

10.1158/1538-7445.am2025-6119 article EN Cancer Research 2025-04-21

Abstract Metabolic reprogramming plays a central role in T cell activation and differentiation, the inhibition of key metabolic pathways activated cells represents logical approach for development new therapeutic agents treating autoimmune diseases. The widely prescribed antidiabetic drug metformin glycolytic inhibitor 2-deoxyglucose (2-DG) have been used to study oxidative phosphorylation glycolysis, respectively, murine immune cells. Published studies demonstrated that combination...

10.4049/jimmunol.2000137 article EN The Journal of Immunology 2020-07-08

ABSTRACT Anthrax, a disease usually associated with herbivores, is caused by the bacterium Bacillus anthracis . The current vaccine licensed for human use requires six-dose primary series and yearly boosters causes reactogenicity in up to 30% of recipients. A minimally reactogenic requiring fewer inoculations warranted. Venezuelan equine encephalitis (VEE) virus has been configured as vector wide variety immunogens. VEE composed self-replicating RNA (replicon) containing all nonstructural...

10.1128/iai.71.3.1491-1496.2003 article EN Infection and Immunity 2003-02-20

Facioscapulohumeral muscular dystrophy (FSHD) is caused by misexpression of the DUX4 transcription factor in skeletal muscle that results transcriptional alterations, abnormal phenotypes and cell death. To gain insight into kinetics DUX4-induced stresses, we activated expression myoblasts performed longitudinal RNA sequencing paired with proteomics phosphoproteomics. This analysis revealed changes cellular physiology upon activation, including DNA damage altered mRNA splicing....

10.1242/dmm.049516 article EN cc-by Disease Models & Mechanisms 2022-10-05
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