☆ 4.8 Letter

Genetic Background of Hepatocyte Cell Lines: Are In Vitro Hepatitis C Virus Research Data Reliable?

HEPATOLOGY (2011)

Journal

HEPATOLOGY

Volume 54, Issue 2, Pages 748-748

Publisher

WILEY-BLACKWELL

DOI: 10.1002/hep.24278

Keywords

-

Categories

Gastroenterology & Hepatology

Ask authors/readers for more resources

Protocol

Community support

Reagent

Community support

Authors

I am an author on this paper

Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.8

Not enough ratings

Secondary Ratings

Novelty

-

Significance

-

Scientific rigor

-

Rate this paper

Recommended

Article Microbiology

Low-density hepatitis C virus infectious particles are protected from oxidation by secreted cellular proteins

Christelle Granier, Johan Toesca, Chloe Mialon, Maureen Ritter, Natalia Freitas, Bertrand Boson, Eve-Isabelle Pecheur, Francois-Loic Cosset, Solene Denolly

Summary: Hepatitis C virus (HCV) particles are stable when secreted from cells, but become highly unstable after freeze-thawing of producer cells. Cell-secreted proteins can protect HCV particles from degradation, specifically those that are lipidated and low-density. HCV particles are sensitive to oxidation, but can be protected from lipid oxidation by secreted factors.

MBIO (2023)

Add to Collection

Article Biochemistry & Molecular Biology

Domain 2 of Hepatitis C Virus Protein NS5A Activates Glucokinase and Induces Lipogenesis in Hepatocytes

Laure Perrin-Cocon, Cindy Kundlacz, Clemence Jacquemin, Xavier Hanoulle, Anne Aublin-Gex, Marianne Figl, Jeremy Manteca, Patrice Andre, Pierre-Olivier Vidalain, Vincent Lotteau, Olivier Diaz

Summary: The HCV protein NS5A activates the glucokinase isoenzyme to redirect central carbon metabolism towards lipogenesis, contributing to the replication needs of the virus.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

Add to Collection

Article Immunology

Convergent antibody responses are associated with broad neutralization of hepatitis C virus

Nicole E. Skinner, Clinton O. Ogega, Nicole Frumento, Kaitlyn E. Clark, Srinivasan Yegnasubramanian, Kornel Schuebel, Jennifer Meyers, Anuj Gupta, Sarah Wheelan, Andrea L. Cox, James E. Crowe Jr, Stuart C. Ray, Justin R. Bailey

Summary: By analyzing the B cell receptors (BCRs) of HCV-infected individuals, researchers identified distinctive BCR features associated with broad neutralization of HCV. These features include long heavy chain complementarity determining region 3 (CDRH3) regions, specific VH gene usage, increased frequencies of somatic hypermutation, and particular VH gene mutations. Further study of these antibodies can inform HCV vaccine development.

FRONTIERS IN IMMUNOLOGY (2023)

Add to Collection

Review Gastroenterology & Hepatology

Hepatitis C virus micro-elimination: Where do we stand?

Alessandra Mangia, Rosa Cotugno, Giovanna Cocomazzi, Maria Maddalena Squillante, Valeria Piazzolla

Summary: The World Health Organization's goal of eliminating Hepatitis C virus (HCV) by 2030 using direct-acting antiviral treatments has become less attainable post the 2020 pandemic of coronavirus disease 2019. Therefore, a more realistic approach of micro-elimination in population segments where targeted strategies of prevention and treatment are easily attained has been promoted in Europe. Active involvement of stakeholders and community participation are essential components for the success of a micro-elimination project tailored at the geographical level according to HCV epidemiology and individual country's income.

WORLD JOURNAL OF GASTROENTEROLOGY (2021)

Add to Collection

Article Microbiology

Longer Poly(U) Stretches in the 3′UTR Are Essential for Replication of the Hepatitis C Virus Genotype 4a Clone in in vitro and in vivo

Asako Takagi, Yutaka Amako, Daisuke Yamane, Bouchra Kitab, Yuko Tokunaga, Ahmed El-Gohary, Michinori Kohara, Kyoko Tsukiyama-Kohara

Summary: This study established an infectious HCV clone from a patient with chronic HCV infection and HCC. The HCV-G4-KM long RNA was found to be infectious both in vitro and in vivo, showing viral propagation in humanized chimeric mice and human hepatoma HuH-7 cells.

FRONTIERS IN MICROBIOLOGY (2021)

Add to Collection

Article Biophysics

Hepatitis virus indicator----the simultaneous detection of hepatitis B and hepatitis C viruses based on the automatic particle enumeration

Ru Cheng, Fu Zhu, Min Huang, Qiang Zhang, Hui Hong Yan, Xiao Hui Zhao, Fu Kang Luo, Chun Mei Li, Hui Liu, Gao Lin Liang, Cheng Zhi Huang, Jian Wang

Summary: In this study, a new biosensor named hepatitis virus indicator was developed for the simultaneous detection of HBV and HCV. The biosensor utilized Exo III assisted signal amplification strategy and particle counting technology with a dark-field microscopy, enabling sensitive and selective detection.

BIOSENSORS & BIOELECTRONICS (2022)

Add to Collection

Article Pharmacology & Pharmacy

Higher BST2 Expression Promotes the Anti-HBV Effect of IFN-α and BST2 Genetic Variant Predicts PegIFNα Treatment Response of HBeAg-Positive Chronic Hepatitis B Patients

Jiaxuan Chen, Jia Hou, Rong Na, Bin Zhou, Jinlin Hou, De-Ke Jiang

Summary: This study found that overexpression of BST2 can improve the anti-HBV effect of IFN-α treatment, and BST2_rs9576 is an effective indicator for predicting the therapy response of PegIFN alpha-treated patients with CHB. The PGS model has the potential to enhance the ability of PegIFN alpha therapy response.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2023)

Add to Collection

Article Gastroenterology & Hepatology

PDCD1 and IFNL4 genetic variants and risk of developing hepatitis C virus-related diseases

Valli De Re, Maria Lina Tornesello, Mariangela De Zorzi, Laura Caggiari, Francesca Pezzuto, Patrizia Leone, Vito Racanelli, Gianfranco Lauletta, Stefania Zanussi, Ombretta Repetto, Laura Gragnani, Francesca Maria Rossi, Riccardo Dolcetti, Anna Linda Zignego, Franco M. Buonaguro, Agostino Steffan

Summary: Genetic variants of IFNL4 and PDCD1 genes influence the outcome of HCV-related diseases. IFNL4 rs12979860 genotypes were more frequent in patients with HCV-related diseases, while PDCD1 mRNA levels were significantly higher in cases carrying certain alleles. These findings suggest a potential relationship between genetic variants and disease outcomes in HCV-positive patients.

LIVER INTERNATIONAL (2021)

Add to Collection

Review Oncology

Chronic Hepatitis Virus Infection Are Associated With High Risk of Gastric Cancer: A Systematic Review and Cumulative Analysis

Yusha Yang, Zufu Jiang, Weizhou Wu, Libin Ruan, Chengyang Yu, Yuning Xi, Liling Wang, Kunpeng Wang, Jinggang Mo, Shankun Zhao

Summary: Mounting studies suggest that chronic hepatitis B virus (HBV) and chronic hepatitis C virus (HCV) infections are not only associated with an increased risk of hepatocellular carcinoma, but also with extrahepatic malignancies such as gastric cancer. Quantitative analysis shows a significant positive association between HBV/HCV infection and gastric cancer development.

FRONTIERS IN ONCOLOGY (2021)

Add to Collection

Article Medicine, General & Internal

Genetic Mutations in TNFSF11 Were Associated With the Chronicity of Hepatitis C Among Chinese Han Population

Peng Huang, Yu-Qing Hou, Jing-Jing Wu, Yi-Di Wang, Xiang-Yu Ye, Feng Zang, Rong-Bin Yu, Sheng Yang

Summary: This study showed a significant association between TNFRSF11 rs9525641 and HCV chronicity, especially among individuals older than 50 years, females, and those with ALT <40 U/L and AST < 40 U/L.

FRONTIERS IN MEDICINE (2021)

Add to Collection

Article Microbiology

Liver-Humanized NSG-PiZ Mice Support the Study of Chronic Hepatitis B Virus Infection and Antiviral Therapies

Rossana Colon-Thillet, Daniel Stone, Michelle A. Loprieno, Lindsay Klouser, Pavitra Roychoudhury, Tracy K. Santo, Hong Xie, Laurence Stensland, Sarah L. Upham, Gregory Pepper, Meei-Li Huang, Martine Aubert, Keith R. Jerome

Summary: The NSG-PiZ liver-humanized mouse model, which is relatively inexpensive and simple to establish, can support chronic HBV infection. This model provides a viable and cost-effective alternative to other liver-humanized mouse models for studying HBV disease pathogenesis and antiviral therapy.

MICROBIOLOGY SPECTRUM (2023)

Add to Collection

Article Chemistry, Medicinal

In Vitro Antiviral Activity of Tyrosinase from Mushroom Agaricus bisporus against Hepatitis C Virus

David Lopez-Tejedor, Rafael Claveria-Gimeno, Adrian Velazquez-Campoy, Olga Abian, Jose M. Palomo

Summary: Tyrosinases extracted and purified from commercial Agaricus bisporus protein extract and white mushrooms demonstrated high antiviral activity against hepatitis C virus. The newly discovered 50 kDa isoform showed even greater antiviral capacity than the well-known 45 kDa isoform. This antiviral activity was directly related to the enzymatic activity of tyrosinases.

PHARMACEUTICALS (2021)

Add to Collection

Review Immunology

What role for cellular metabolism in the control of hepatitis viruses?

Olivier Diaz, Pierre-Olivier Vidalain, Christophe Ramiere, Vincent Lotteau, Laure Perrin-Cocon

Summary: Hepatitis viruses actively alter cellular metabolism through molecular interactions, which can have a direct impact on the antiviral immune response. The complex interactions between viral components, innate immunity, and hepatocyte metabolism may explain the progression of chronic hepatitis infections to liver inflammation, fibrosis, and hepatocellular carcinoma.

FRONTIERS IN IMMUNOLOGY (2022)

Add to Collection

Article Hematology

Novel genetic regulators of fibrinogen synthesis identified by an in vitro experimental platform

Dre'Von A. Dobson, Lori A. Holle, Feng-Chang Lin, Jennifer E. Huffman, James P. Luyendyk, Matthew J. Flick, Nicholas L. Smith, Paul S. de Vries, Alanna C. Morrison, Alisa S. Wolberg

Summary: This study aimed to understand the (patho) physiological actions of fibrinogen by characterizing the genetic contribution to its synthesis. By inducing HepG2 cells to express fibrinogen and observing the effects of small interfering RNA knockdown of different candidate genes, several genes interacting with fibrinogen production were identified. This approach can reveal cellular mechanisms of fibrinogen and fibrin(ogen)-mediated (patho) physiological mechanisms.

JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2023)

Add to Collection

Article Gastroenterology & Hepatology

Comorbidities in patients with chronic hepatitis C and hepatitis B on hemodialysis

Po-Yao Hsu, Yu-Ju Wei, Po-Cheng Liang, Jia-Jung Lee, Sheng-Wen Niu, Jiun-Chi Huang, Cheng-Ting Hsu, Tyng-Yuan Jang, Ching- Huang, Yi-Hung Lin, Ming-Yen Hsieh, Meng-Hsuan Hsieh, Szu-Chia Chen, Chia-Yen Dai, Zu-Yau Lin, Shinn-Cherng Chen, Jee-Fu Huang, Jer-Ming Chang, Ming-Lun Yeh, Chung-Feng Huang, Yi-Wen Chiu, Shang-Jyh Hwang, Wan-Long Chuang, Ming-Lung Yu

Summary: Hemodialysis patients are at increased risk of hepatitis B virus (HBV) and hepatitis C virus (HCV) infection. This study found that hemodialysis patients with HCV exhibited a higher burden of comorbidities, especially in ischemic heart diseases, respiratory disorders, and mental/behavioral disorders, compared to patients with HBV and those without viral hepatitis.

JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY (2021)

Add to Collection

Letter Dermatology

Health products e-sale should be regulated: a case of necrotizing soft-tissue infection of the abdomen linked to self-injection of slimming products purchased on the internet

Camille Grodner, Charlotte Bernigaud, Simone Lapadula, Helene Beringuer, Pierre-Antoine Billiet, Paul-Louis Woerther, Raphaelle Billon, Henri Derhy, Benjamin Haye, Claire Hotz, Claire Pressiat, Dominique Vodovar, Christophe Rodriguez, Nicolas Fabresse, Nicolas de Prost, Camille Hua, Oliver Chosidow

INTERNATIONAL JOURNAL OF DERMATOLOGY (2022)

Add to Collection

Review Rheumatology

Bartonella and Coxiella infections presenting as systemic vasculitis: case series and review of literature

Maxime Beydon, Christophe Rodriguez, Alexandre Karras, Alexandre Cez, Cedric Rafat, Noemie Jourde-Chiche, Olivier Fain, Carole Philipponnet, Xavier Puechal, Antoine Dossier, Nicolas Dupin, Dan Levy, Ines Aureau, Loic Guillevin, Benjamin Terrier

Summary: Through a case series and literature review, it was found that Bartonella infection can mimic PR3-ANCA-associated vasculitis with involvement of the kidneys and endocarditis, while Coxiella infection may induce vasculitis affecting vessels of all sizes, with 75% presenting as cryoglobulinaemia vasculitis.

RHEUMATOLOGY (2022)

Add to Collection

Article Biochemistry & Molecular Biology

Interleukin-17 programs liver progenitor cell transformation into cancer stem cells through miR-122 downregulation with increased risk of primary liver cancer initiation

Imene Gasmi, Camilia Machou, Aurelie Rodrigues, Arthur Brouillet, Trung Cong Nguyen, Benoit Rousseau, Adrien Guillot, Christophe Rodriguez, Vanessa Demontant, Yeni Ait-Ahmed, Julien Calderaro, Alain Luciani, Jean-Michel Pawlotsky, Fouad Lafdil

Summary: Chronic inflammation plays a key role in the development of primary liver cancers. This study found that long-term exposure of liver progenitor cells (LPCs) to Interleukin (IL)-17 cytokine promotes their transformation into cancer stem cells (CSCs). IL-17-neutralizing strategies can limit CSC occurrence and liver tumor progression through restored-expression of miR-122.

INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES (2022)

Add to Collection

Article Gastroenterology & Hepatology

Virological characterization of treatment failures and retreatment outcomes in patients infected with unusual HCV genotype 1 subtypes

Erwan Vo-Quang, Alexandre Soulier, Melissa Ndebi, Christophe Rodriguez, Stephane Chevaliez, Vincent Leroy, Slim Fourati, Jean-Michel Pawlotsky, EPIRES-C ANRS MIE Study Group

Summary: This study aimed to evaluate the proportion of non-1a/1b genotype 1 subtypes in HCV-infected patients who failed to achieve sustained virological response after first-line direct-acting antiviral treatment. It was found that patients infected with unusual HCV genotype 1 subtypes were overrepresented among treatment failures, with a majority of them being born in sub-Saharan Africa. These non-1a/1b genotype 1 subtypes naturally carry polymorphisms conferring reduced susceptibility to currently used drugs, particularly NS5A inhibitors. Retreatment with sofosbuvir plus an NS3 protease and an NS5A inhibitor is generally effective.

HEPATOLOGY (2023)

Add to Collection

Article Multidisciplinary Sciences

SARS-CoV-2 variants and mutational patterns: relationship with risk of ventilator-associated pneumonia in critically ill COVID-19 patients in the era of dexamethasone

Keyvan Razazi, Anissa Martins Bexiga, Romain Arrestier, Bastien Peiffer, Guillaume Voiriot, Charles-Edouard Luyt, Tomas Urbina, Julien Mayaux, Tai Pham, Damien Roux, Raphael Bellaiche, Zakaria AIt Hamou, Stephane Gaudry, Elie Azoulay, Armand Mekontso Dessap, Christophe Rodriguez, Jean-Michel Pawlotsky, Slim Fourati, Nicolas de Prost

Summary: This study aimed to investigate the correlation between specific viral mutations/mutational patterns and the occurrence of ventilator-associated pneumonia (VAP) in COVID-19 patients. The results showed no significant relationship between VAP occurrence and specific SARS-CoV-2 lineage/sublineage or mutational pattern.

SCIENTIFIC REPORTS (2023)

Add to Collection

Article Cell Biology

Lineage skewing and genome instability underlie marrow failure in a zebrafish model of GATA2 deficiency

Christopher B. Mahony, Lucy Copper, Pavle Vrljicak, Boris Noyvert, Chrystala Constantinidou, Sofia Browne, Yi Pan, Claire Palles, Sascha Ott, Martin R. Higgs, Rui Monteiro

Summary: Through studying a zebrafish model of GATA2 deficiency, it was found that loss of the gata2a gene led to an overproduction of erythroid cells and a decrease in myeloid cells. This was associated with a decrease in cebpa expression and decreased accessibility of PU.1 and CEBPA transcription factors in hematopoietic stem and progenitor cells (HSPCs). In addition, the gata2a mutants showed impaired expression of npm1a, which was associated with elevated levels of DNA damage. Overall, Gata2a maintains myeloid lineage priming and protects against genome instability and bone marrow failure.

CELL REPORTS (2023)

Add to Collection

Article Chemistry, Applied

Reduction of senescence-associated secretory phenotype and exosome-shuttled miRNAs by Haritaki fruit extract in senescent dermal fibroblasts

Patrick Bogdanowicz, Nicolas Roullet, Paul Bensadoun, Sandrine Bessou-Touya, Jean-Marc Lemaitre, Helene Duplan

Summary: This study demonstrates the impact of the compound on senescent cells and the SASP. The results suggest that the compound significantly reduces the expression of SASP genes in senescent cells, as well as the miRNA expression of SASP factors in extracellular vesicles.

INTERNATIONAL JOURNAL OF COSMETIC SCIENCE (2023)

Add to Collection

Article Microbiology

In Vivo Emergence of Dual Resistance to Rifampin and Levofloxacin in Osteoarticular Cutibacterium avidum

Scott A. Cunningham, Christophe Rodriguez, Paul-Louis Woerther, Christophe Menigaux, Thomas Bauer, Jean-Louis Herrmann, Martin Rottman, Anne-Laure Roux, Jean-Louis Gaillard, Robin Patel, Faten El Sayed

Summary: In this study, we report the first emergence of dual resistance to levofloxacin and rifampin in C. avidum in vivo, in a patient who received both antibiotics orally during salvage debridement and implant retention of an ODRI. This study highlights potential limitations of the combination of oral rifampin and levofloxacin in patients undergoing these surgical procedures and the potential need to evaluate specific optimal therapy for emerging ODRI pathogens.

MICROBIOLOGY SPECTRUM (2023)

Add to Collection

Letter Gastroenterology & Hepatology

Orthohepevirus C hepatitis, an underdiagnosed disease?

Christophe Rodriguez, Sarah Marchand, Anna Sessa, Pierre Cappy, Jean-Miche Pawlotsky

JOURNAL OF HEPATOLOGY (2023)

Add to Collection

Article Psychiatry

Patients with psychosis spectrum disorders hospitalized during the COVID-19 pandemic unravel overlooked SARS-CoV-2 past infection clustering with HERV-W ENV expression and chronic inflammation

Ryad Tamouza, Urs Meyer, Alexandre Lucas, Jean Romain Richard, Irene Nkam, Armand Pinot, Ndilyam Djonouma, Wahid Boukouaci, Benjamin Charvet, Justine Pierquin, Joanna Brunel, Slim Fourati, Christophe Rodriguez, Caroline Barau, Philippe Le Corvoisier, Kawtar El Abdellati, Livia De Picker, Herve Perron, Marion Leboyer

Summary: Epidemiological studies have shown a link between certain infections and an increased risk of developing psychiatric disorders. These infections can activate retro-transposable genetic elements (HERV), which in turn impact immune receptors and synaptic plasticity. Recent research has found an association between the HERV-W ENV protein and pro-inflammatory cytokines in patients with schizophrenia or bipolar disorder. The COVID-19 pandemic's influence on patients with psychosis spectrum disorders (PSD) was investigated, revealing a high prevalence of SARS-CoV-2 antibodies in PSD patients, with HERV-W ENV detected only in seropositive individuals. SARS-CoV-2 infection and HERV-W ENV positivity were found to co-cluster with high levels of pro-inflammatory cytokines in psychotic patients. These findings suggest a dominant influence of the virus on HERV-W ENV and cytokine expression, and the need for further investigation into the interplay between viral infection and the clinical evolution of PSD patients.

TRANSLATIONAL PSYCHIATRY (2023)

Add to Collection

Article Critical Care Medicine

Clinical phenotypes and outcomes associated with SARS-CoV-2 Omicron variants BA.2, BA.5 and BQ.1.1 in critically ill patients with COVID-19: a prospective, multicenter cohort study

Nicolas de Prost, Etienne Audureau, Sebastien Preau, Raphael Favory, Aurelie Guigon, Pierre Bay, Nicholas Heming, Elyanne Gault, Tai Pham, Amal Chaghouri, Guillaume Voiriot, Laurence Morand-Joubert, Sebastien Jochmans, Aurelia Pitsch, Sylvie Meireles, Damien Contou, Amandine Henry, Adrien Joseph, Marie-Laure Chaix, Fabrice Uhel, Diane Descamps, Malo Emery, Claudio Garcia-Sanchez, Charles-Edouard Luyt, Stephane Marot, Frederic Pene, Anne-Sophie Lhonneur, Stephane Gaudry, Segolene Brichler, Lucile Picard, Armand Mekontso Dessap, Christophe Rodriguez, Jean-Michel Pawlotsky, Slim Fourati, SEVARVIR Investigators

Summary: A study found that critically ill patients with Omicron BQ.1.1 infection showed a different clinical phenotype than those infected with earlier Omicron sublineage, but there was no difference in day-28 mortality.

INTENSIVE CARE MEDICINE EXPERIMENTAL (2023)

Add to Collection

Article Medicine, Research & Experimental

Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans

Sally C. Fletcher, Charlotte Hall, Tristan J. Kennedy, Sander Pajusalu, Monica H. Wojcik, Uncaar Boora, Chan Li, Kaisa Teele Oja, Eline Hendrix, Christian A. E. Westrip, Regina Andrijes, Sonia K. Piasecka, Mansi Singh, Mohammed E. El-Asrag, Anetta Ptasinska, Vallo Tillmann, Martin R. Higgs, Deanna A. Carere, Andrew D. Beggs, John Pappas, Rachel Rabin, Stephen J. Smerdon, Grant S. Stewart, Katrin Ounap, Mathew L. Coleman

Summary: Although protein hydroxylation is not well understood, recent research has revealed its role in oxygen sensing and hypoxia biology. JMJD5, a protein hydroxylase essential for mouse embryonic development and viability, has been found to have pathogenic variants that cause severe developmental disorders in humans. These variants affect mRNA splicing, protein stability, and hydroxylase activity, leading to failure to thrive, intellectual disability, and facial dysmorphism. This study contributes to our understanding of the importance of protein hydroxylases in human development and disease.

JOURNAL OF CLINICAL INVESTIGATION (2023)

Add to Collection

Article Immunology

Unknown Circovirus in Immunosuppressed Patient with Hepatitis, France, 2022

Christophe Rodriguez, Laure Boizeau, Alexandre Soulier, Melissa N'Debi, Vanessa Demontant, Elisabeth Trawinski, Sarah Seng, Helene Fontaine, Paul-Louis Woerther, Sarah Marchand, Slim Fourati, Stephane Chevaliez, Pierre Cappy, Stanislas Pol, Jean-Michel Pawlotsky

Summary: A new virus belonging to the family Circoviridae, genus Circovirus, was discovered in a patient in France who had acute hepatitis of unknown origin, using routine shotgun metagenomics.

EMERGING INFECTIOUS DISEASES (2023)

Add to Collection

Article Oncology

New perspectives on epigenetic modifications and PARP inhibitor resistance in HR-deficient cancers

Rachel Bayley, Ellie Sweatman, Martin R. Higgs

Summary: The clinical treatment of DNA-repair defective tumors has been revolutionized by PARP inhibitors. However, resistance to these compounds is a challenge due to the rewiring of the DNA damage response. Recent findings identify SETD1A as a novel factor that contributes to PARPi resistance, with implications for epigenetic modifications and H3K4 methylation. Mechanisms responsible, consequences for PARP inhibitor use, and future possibilities to overcome drug resistance in DNA-repair deficient cancers are discussed.

CANCER DRUG RESISTANCE (2023)

Add to Collection

Article Genetics & Heredity

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. Micheil Innes, Connie Stumpel, Katrin Ounap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H. Zackai, Sarah E. Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Hanns Lochmuller, Martin R. Higgs, Amalia Goula, Birgitta Bernhard, Danita J. Velasco, Andrew A. Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C. Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E. Jakub, Jamie M. Kramer, Joery den Hoed, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra

Summary: We studied WDR5, a broadly studied key protein involved in various biological functions. We found rare de novo germline missense variants in WDR5 that are associated with neurodevelopmental disorders. These variants may disrupt interactions of WDR5 with crucial proteins such as RbBP5 and/or KMT2A/C.

HUMAN GENETICS AND GENOMICS ADVANCES (2023)

Add to Collection

No Data Available

© Peeref 2019-2024. All rights reserved.