Article
Pediatrics
Tomasz Jarmolinski, Monika Rosa, Blanka Rybka, Renata Ryczan-Krawczyk, Kornelia Gajek, Katarzyna Bogunia-Kubik, Maja Klaudel-Dreszler, Piotr Czubkowski, Piotr Kalicinski, Joanna Teisseyre, Marek Stefanowicz, Ewa Gorczynska, Krzysztof Kalwak, Marek Ussowicz
Summary: A child with Fanconi anemia underwent orthotopic liver transplantation (OLT) after hematopoietic stem cell transplantation (HSCT) complicated by acute graft versus host disease (GVHD). The liver can serve as a clinically significant source of hematopoietic stem cells. Close monitoring of hematopoietic chimerism after OLT is necessary in patients at risk for complications such as GVHD.
FRONTIERS IN PEDIATRICS
(2022)
Article
Chemistry, Multidisciplinary
Sally B. Morton, L. David Finger, Roxanne van der Sluijs, William D. Mulcrone, Michael Hodskinson, Christopher L. Millington, Christina Vanhinsbergh, Ketan J. Patel, Mark J. Dickman, Puck Knipscheer, Jane A. Grasby, David M. Williams
Summary: DNA interstrand cross-links (ICLs) have significant implications for DNA replication and transcription, and understanding their repair is crucial. This study presents an efficient method for generating reduced acetaldehyde ICLs, which can be used to study their recognition and repair. The methodology described here shows promising results and will facilitate further research in cross-link repair.
JOURNAL OF THE AMERICAN CHEMICAL SOCIETY
(2022)
Article
Chemistry, Multidisciplinary
David M. Williams, Sally B. Morton, L. David Finger, Roxanne van der Sluijs, William D. Mulcrone, Michael Hodskinson, Christopher L. Millington, Christina Vanhinsbergh, Ketan J. Patel, Mark J. Dickman, Puck Knipscheer, Jane A. Grasby
Summary: DNA cross-link (ICLs) can cause lethal events such as cancer or bone marrow failure during replication and transcription. The Fanconi Anemia (FA) pathway proteins are responsible for repairing ICLs, but the details of the pathway are not fully known. Methods to create DNA containing ICLs are crucial for further understanding cross-link repair. A major method to form ICLs in vivo is through DNA reaction with acetaldehyde from ethanol metabolism. This research presents an efficient approach using a novel N2-((R)-4-trifluoroacetamidobutan-2-yl)-2'-deoxyguanosine phosphoramidite for preparing reduced acetaldehyde ICLs. The simplicity, efficiency, and stability of this method will contribute to future studies on cross-link repair.
JOURNAL OF THE AMERICAN CHEMICAL SOCIETY
(2023)
Article
Multidisciplinary Sciences
Abdul K. K. Siraj, Rong Bu, Sandeep Kumar Parvathareddy, Kaleem Iqbal, Saud Azam, Zeeshan Qadri, Maha Al-Rasheed, Wael Haqawi, Mark Diaz, Ingrid G. G. Victoria, Ismail A. A. Al-Badawi, Asma Tulbah, Fouad Al-Dayel, Dahish Ajarim, Khawla S. S. Al-Kuraya
Summary: By screening 918 breast cancer/ovarian cancer patients from Saudi Arabia, we identified six cases with pathogenic/likely pathogenic variants in the PALB2 gene, accounting for 0.65% of the entire cohort. Among these cases, two carried pathogenic variants and four carried likely pathogenic variants. All affected carriers had breast cancer, with a median age of diagnosis at 39.5 years, and only two cases had a documented family history of cancer.
SCIENTIFIC REPORTS
(2023)
Article
Genetics & Heredity
Lisa J. McReynolds, Neelam Giri, Lisa Leathwood, Maureen O. Risch, Ann G. Carr, Blanche P. Alter
Summary: The risk of cancer is not increased in individuals with single pathogenic FA gene variant, according to a study on relatives of patients with FA. This finding is crucial for counseling and managing individuals with FA variants.
GENETICS IN MEDICINE
(2022)
Article
Oncology
Daijing Nie, Jing Zhang, Fang Wang, Xvxin Li, Lili Liu, Wei Zhang, Panxiang Cao, Xue Chen, Yang Zhang, Jiaqi Chen, Xiaoli Ma, Xiaosu Zhou, Qisheng Wu, Ming Liu, Mingyue Liu, Wenjun Tian, Hongxing Liu
Summary: The study suggests that heterozygous mutations in Fanconi anemia genes can contribute to hematologic disorders, particularly aplastic anemia and leukemia. Different genes have varying frequencies of mutations, with some genes showing associations with specific subgroups of hematologic malignancies.
FRONTIERS OF MEDICINE
(2022)
Article
Genetics & Heredity
Lixian Chang, Li Zhang, Beibei Zhao, Xuelian Cheng, Yang Wan, Ranran Zhang, Weiping Yuan, Xingjie Gao, Xiaofan Zhu
Summary: This study elucidates the functional links between FA and MDS/AML, providing insights into their association.
BMC MEDICAL GENOMICS
(2023)
Article
Medical Laboratory Technology
Lixian Chang, Li Zhang, Wenbin An, Yang Wan, Yuli Cai, Yang Lan, Aoli Zhang, Lipeng Liu, Min Ruan, Xiaoming Liu, Ye Guo, Wenyu Yang, Xiaojuan Chen, Yumei Chen, Shuchun Wang, Yao Zou, Weiping Yuan, Xiaofan Zhu
Summary: A study investigated the clinical features and genotype/phenotype correlation of 148 Chinese pediatric Fanconi anemia (FA) patients. FA-A was the most common subtype in the cohort, and finger and skin deformities were the most frequent malformations. New mutation sites and their association with prognosis were identified, and chromosome abnormalities were found to be closely linked to the progression of FA to leukemia.
CLINICA CHIMICA ACTA
(2023)
Article
Oncology
Junichi Takahashi, Takaaki Masuda, Akihiro Kitagawa, Taro Tobo, Yusuke Nakano, Tadashi Abe, Yuki Ando, Keisuke Kosai, Yuta Kobayashi, Yoshihiro Matsumoto, Tomoharu Yoshizumi, Masaki Mori, Koshi Mimori
Summary: This study found that FANCE is highly expressed in HCC cells and is associated with poor prognosis. By facilitating cell cycle signaling activation, FANCE may promote HCC proliferation. This suggests that FANCE may be a potential therapeutic target and prognostic biomarker for HCC.
Article
Oncology
Yilin Bao, Huajun Feng, Feipeng Zhao, Lijun Zhang, Shengen Xu, Conghong Zhang, Chong Zhao, Gang Qin
Summary: In this study, the role of FANCD2 in nasopharyngeal carcinoma (NPC) was investigated. Silencing of FANCD2 affected the sensitivity of CNE-2 cells to ionizing radiation by regulating cell proliferation, apoptosis, and cell cycle distribution, potentially through changes in the expression of NUPR1, FLI1, and FGF21 proteins. These findings provide a promising target for NPC radiotherapy.
Article
Biochemistry & Molecular Biology
Swarna Beesetti, Shyam Sirasanagandla, Sadie Miki Sakurada, Shondra M. Pruett-Miller, Rhea Sumpter, Beth Levine, Malia B. Potts
Summary: Fanconi anemia is a common inherited bone marrow failure syndrome. FANCL protein is found in mitochondria and its localization is not dependent on its ubiquitin ligase activity. Knockout of FANCL results in increased sensitivity to mitochondrial stress and defective clearing of damaged mitochondria, which can be reversed by reintroduction of wild-type or ubiquitin ligase-deficient FANCL.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2022)
Article
Oncology
Jemina Lehto, Anna Huguet Ninou, Dimitrios Chioureas, Jos Jonkers, Nina M. S. Gustafsson
Summary: Chemotherapeutics that introduce DNA crosslinks, like platinum drugs, are used to treat cancers but face limitations due to side effects and acquired resistance. Targeting DNA repair, particularly the interaction between CX3CR1 and the FA repair pathway, holds promise in improving treatment responses and reducing side effects.
Review
Immunology
Gerard Socie, David Michonneau
Summary: This article reviews important publications on GVHD from a historical perspective and discusses the progress in the field. Despite the inherent bias in the selection, it provides significant insights into the pathophysiology of GVHD.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Medicine, General & Internal
Lixian Chang, Xuelian Cheng, Xingjie Gao, Yao Zou, Weiping Yuan, Li Zhang, Xiaofan Zhu
Summary: This study aims to explore the association between Fanconi anemia (FA) gene expression and survival prognosis in acute myeloid leukemia (AML) patients. By analyzing patient samples, the researchers identified five gene signatures associated with AML risk and stratified patients based on these signatures. They also developed an FA Nomogram, which incorporates risk score, gender, age, and classification, to predict patient survival rates. External validation of these prognostic models confirmed their clinical validity.
Article
Cell Biology
Robert Goold, Joseph Hamilton, Thomas Menneteau, Michael Flower, Emma L. Bunting, Sarah G. Aldous, Antonio Porro, Jose R. Vicente, Nicholas D. Allen, Hilary Wilkinson, Gillian P. Bates, Alessandro A. Sartori, Konstantinos Thalassinos, Gabriel Balmus, Sarah J. Tabrizi
Summary: The interaction between FAN1 and MLH1 in DNA damage repair pathways plays a crucial role in stabilizing CAG repeats and inhibiting their expansion. FAN1 functions by limiting MLH1 recruitment and promoting accurate repair, suggesting a potential avenue for therapeutic interventions in Huntington's disease.
Article
Oncology
Diaddin Hamdan, Christophe Leboeuf, Christine Le Foll, Guilhem Bousquet, Anne Janin
Meeting Abstract
Oncology
T. Dao, G. Gapihan, C. Leboeuf, D. Hamdan, J. -P. Feugeas, T. Tran, C. Monnot, S. Germain, A. Janin, G. Bousquet
Article
Oncology
Morad El Bouchtaoui, Marcio Do Cruzeiro, Christophe Leboeuf, Irmine Loisel-Ferreira, Carele Fedronie, Chrystophe Ferreira, Rachida Ait El Far, Marianne Ziol, Marc Espie, Geraldine Falgarone, Bruno Cassinat, Jean-Jacques Kiladjian, Jean-Paul Feugeas, Anne Janin, Guilhem Bousquet
CLINICAL CANCER RESEARCH
(2019)
Article
Oncology
Toni Nunes, Thomas Pons, Xue Hou, Khanh Van Do, Benoit Caron, Marthe Rigal, Melanie Di Benedetto, Bruno Palpant, Christophe Leboeuf, Anne Janin, Guilhem Bousquet
JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH
(2019)
Meeting Abstract
Oncology
Dao Van Tu, Guillaume Gapihan, Christophe Leboeuf, Diaddin Hamdan, Jean-Paul Feugeas, Hanene Boudabous, Laurent Zelek, Catherine Miquel, Thuan Van Tran, Catherine Monnot, Sthephane Germin, Anne Janin, Guilhem Bousquet
ANNALS OF ONCOLOGY
(2019)
Article
Multidisciplinary Sciences
Loukman Omarjee, Charlotte Roy, Christophe Leboeuf, Julie Favre, Daniel Henrion, Guillaume Mahe, Georges Leftheriotis, Ludovic Martin, Anne Janin, Gilles Kauffenstein
SCIENTIFIC REPORTS
(2019)
Article
Biology
Helene Valque, Valerie Gouyer, Catherine Duez, Christophe Leboeuf, Philippe Marquillies, Marc Le Bere, Segolene Plet, Bernhard Ryffel, Anne Janin, Frederic Gottrand, Jean-Luc Desseyn
Article
Oncology
Amina Boussouar, Antonin Tortereau, Ambroise Manceau, Andrea Paradisi, Nicolas Gadot, Jonathan Vial, David Neves, Lionel Larue, Maxime Battistella, Christophe Leboeuf, Celeste Lebbe, Anne Janin, Patrick Mehlen
Article
Oncology
Rui Sun, Zhong Zheng, Li Wang, Shu Cheng, Qing Shi, Bin Qu, Di Fu, Christophe Leboeuf, Yan Zhao, Jing Ye, Anne Janin, Wei-Li Zhao
Summary: The study found that a prognostic model based on four circulating miRNA can effectively predict relapse and survival in DLBCL, independent of the International Prognostic Index.
MOLECULAR ONCOLOGY
(2021)
Letter
Oncology
Thuy Thi Nguyen, Guillaume Gapihan, Pauline Tetu, Frederic Pamoukdjian, Morad El Bouchtaoui, Christophe Leboeuf, Jean-Paul Feugeas, Justine Paris, Barouyr Baroudjian, Julie Delyon, Samia Mourah, Celeste Lebbe, Anne Janin, Guilhem Bousquet, Maxime Battistella
CLINICAL AND TRANSLATIONAL MEDICINE
(2020)
Article
Biochemistry & Molecular Biology
Petra Gorombei, Fabien Guidez, Saravanan Ganesan, Mathieu Chiquet, Andrea Pellagatti, Laure Goursaud, Nilgun Tekin, Stephanie Beurlet, Satyananda Patel, Laura Guerenne, Carole Le Pogam, Niclas Setterblad, Pierre de la Grange, Christophe LeBoeuf, Anne Janin, Maria-Elena Noguera, Laure Sarda-Mantel, Pascale Merlet, Jacqueline Boultwood, Marina Konopleva, Michael Andreeff, Robert West, Marika Pla, Lionel Ades, Pierre Fenaux, Patricia Krief, Christine Chomienne, Nader Omidvar, Rose Ann Padua
Summary: The study demonstrates that the BCL-2 inhibitor ABT-737 significantly extends survival in the high-risk MDS mouse model and reduces bone marrow blasts and LSK cells, providing new insights into the treatment of MDS.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, Research & Experimental
Alessandro Matte, Enrica Federti, Charles Kung, Penelope A. Kosinski, Rohini Narayanaswamy, Roberta Russo, Giorgia Federico, Francesca Carlomagno, Maria Andrea Desbats, Leonardo Salviati, Christophe Leboeuf, Maria Teresa Valenti, Francesco Turrini, Anne Janin, Shaoxia Yu, Elisabetta Beneduce, Sebastien Ronseaux, Iana Iatcenko, Lenny Dang, Tomas Ganz, Chun-Ling Jung, Achille Iolascon, Carlo Brugnara, Lucia De Franceschi
Summary: Enhancement of pyruvate kinase activity by mitapivat showed positive effects on reducing chronic hemolysis and ineffective erythropoiesis in beta-thalassemia, leading to improved red cell metabolism, decreased oxidative stress, and mitigation of liver iron overload. The treatment also resulted in enhanced erythropoiesis and erythroid maturation in ex vivo studies on patients with beta-thalassemia, suggesting potential benefits beyond the erythropoietic compartment. Overall, these findings provide a strong scientific rationale for further clinical trials of pyruvate kinase activation as a therapeutic approach for beta-thalassemia.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Meeting Abstract
Hematology
Alessandro Matte, Wilson Anand, Enrica Federti, Charles Kung, Penelope A. Kosinski, Veronica Riccardi, Iana Iatcenko, Lenny Dang, Christophe Leboeuf, Anne Janin, Carlo Brugnara, Mohandas Narla, Lucia De Franceschi
Article
Medicine, Research & Experimental
Alessandro Matte, Enrica Federti, Michael Winter, Annette Koerner, Anja Harmeier, Norman Mazer, Tomas Tomka, Maria Luisa Di Paolo, Luigia Defalco, Immacolata Andolfo, Elisabetta Beneduce, Achille Iolascon, Alejandra Macias-Garcia, Jane-Jane Chen, Anne Janin, Christhophe Lebouef, Franco Turrini, Carlo Brugnara, Lucia De Franceschi
Meeting Abstract
Hematology
Alessandro Matte, Enrica Federti, Antonio Rechiutti, Amtonella Panataleo, Roberta Russo, Francesco Turrini, Angela Siciliano, Pierre Louis Tharaux, Wassim El Nemer, Serge Cedrick, Anne Janin, Christophe Leboeuf, Wilson Babu, Achille Iolascon, Carlo Brugnara, Lucia De Franceschi