Article
Immunology
Fabian Klein, Julien Roux, Grozdan Cvijetic, Patrick Fernandes Rodrigues, Lilly von Muenchow, Ruth Lubin, Pawel Pelczar, Simon Yona, Panagiotis Tsapogas, Roxane Tussiwand
Summary: The study shows that an uncommitted precursor expressing TdT can generate a large fraction of myeloid and erythro-megakaryocyte cells. Developmental trajectories of hematopoietic stem cells towards different lineages are determined by intrinsic and extrinsic cues. The transient induction of TdT on MPPs reflects a transcriptionally dynamic but uncommitted stage, associated with multilineage differentiation potential.
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
Genetics & Heredity
Muhammad Shahid, Ahmad Azfaralariff, Muhammad Zubair, Ahmed Abdulkareem Najm, Nahid Khalili, Douglas Law, Sabika Firasat, Shazrul Fazry
Summary: This study identified high-risk deleterious variants in the selected genes (FANCA, FANCC, and FANCG) through computational approaches, showing profound impact on the respective proteins. Additionally, pathway analysis predicted multiple pathways beyond Fanconi anemia pathway.
Article
Environmental Sciences
Yun Zhao, Linqing Wei, Abderrahmane Tagmount, Alex Loguinov, Amin Sobh, Alan Hubbard, Cliona M. McHale, Christopher J. Chang, Chris D. Vulpe, Luoping Zhang
Summary: This study identified genes affecting formaldehyde toxicity in human hematopoietic cells using CRISPR screening, including those that increase sensitivity and resistance, along with related pathways and mechanisms. Results indicated a significant role for formaldehyde metabolism and the Fanconi anemia pathway in toxicity tolerance, and new network analyses revealed potential roles for one-carbon metabolism, fatty acid synthesis, and mTOR signaling in modulating formaldehyde toxicity.
Article
Hematology
Josune Zubicaray, Daria Pagliara, Julian Sevilla, Dirk-Jan Eikema, Paul Bosman, Mouhab Ayas, Marco Zecca, Akif Yesilipek, Savas Kansoy, Cecile Renard, Jean H. Dalle, Antonio Campos, Maura Faraci, Alphan Kupesiz, Frans J. W. Smiers, Andrea Velardi, Manuel Abecasis, Paola Corti, Franca Fagioli, Soledad Gonzalez Muniz, Gergely Krivan, Carlo Dufour, Antonio Risitano, Selim Corbacioglu, Regis Peffault de Latour
Summary: Allogeneic hematopoietic cell transplantation is the only cure for Fanconi anemia (FA), but alternative donors like haplo-identical donors may offer better outcomes. Transplantation with haplo-identical donors with only in vivo T cell depletion may lead to better event-free survival (EFS) for FA patients.
AMERICAN JOURNAL OF HEMATOLOGY
(2021)
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
Pediatrics
Mariana Munhoz da Cunha, Fellype Carvalho Barreto, Samantha Nichele, Joanna Trennepohl, Lisandro Ribeiro, Gisele Loth, Adriana Koliski, Tyane de Almeida Pinto Jardim, Adriana Mello, Ricardo Pasquini, Lucimary de Castro Sylvestre, Carmem Bonfim
Summary: Fanconi anemia (FA) is a rare disease that can lead to bone marrow failure and cancer predisposition. Hematopoietic cell transplantation (HCT) is the only potential cure for FA, but it may cause acute kidney injury (AKI) and hypertension. A study on FA patients who underwent HCT found that the incidence of AKI within 100 days was 18.7%, with 72% of patients developing hypertension, and CAKUT was associated with hypertension and kidney function.
EUROPEAN JOURNAL OF PEDIATRICS
(2022)
Article
Oncology
Qiao-Yan Zhu, Pu-Chun Li, Yi-Fan Zhu, Jia-Ni Pan, Rong Wang, Xiao-Lin Li, Wei-Wu Ye, Xiao-Wen Ding, Xiao-Jia Wang, Wen-Ming Cao
Summary: Deleterious variants in Fanconi anemia genes have been found in Chinese high-risk hereditary breast cancer patients, which are associated with distinct clinicopathological characteristics, prognosis, and breast cancer risk.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2023)
Article
Immunology
Ira Phadke, Marie Pouzolles, Alice Machado, Josquin Moraly, Pedro Gonzalez-Menendez, Valerie S. Zimmermann, Sandrina Kinet, Mark Levine, Pierre-Christian Violet, Naomi Taylor
Summary: The deficiency of vitamin C significantly impacts hematopoiesis, especially in the perinatal period, leading to a reduction in bone marrow cells and hematopoietic stem cells. Different subsets of myeloid progenitors have different sensitivity to vitamin C levels. Both perinatal and adult erythropoiesis are sensitive to vitamin C deprivation and can trigger splenic compensatory differentiation.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Multidisciplinary Sciences
Chin-Min Kimmy Ho, Martin Bringmann, Yoshimi Oshima, Nobutaka Mitsuda, Dominique C. Bergmann
Summary: In this study, the mixed potential of stomatal lineage ground cells in the Arabidopsis leaf epidermis was used as a model to investigate the balance between proliferation and differentiation in cells. Transcriptome analysis revealed that these cells seem to be poised between proliferation and endoreduplication, with the presence of specific RNA polymerase II-related mediator complex interactors and transcription factors influencing cell proliferation during leaf development.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Cell Biology
Roberta Bottega, Silvia Ravera, Luisa M. R. Napolitano, Viviana Chiappetta, Nicoletta Zini, Barbara Crescenzi, Silvia Arniani, Michela Faleschini, Giuseppe Cortone, Flavio Faletra, Barbara Medagli, Fabio Sirchia, Martina Moretti, Job de Lange, Enrico Cappelli, Cristina Mecucci, Silvia Onesti, Francesca M. Pisani, Anna Savoia
Summary: Warsaw breakage syndrome (WABS), caused by biallelic mutations of DDX11, results in impaired DNA helicase function and increased chromosomal fragmentation. Phenotypic features partially overlap with Fanconi anemia cells, and further examination reveals altered mitochondrial functionality in WABS cells. This sheds light on impaired mitochondrial phenotype and the pathogenesis of these diseases.
JOURNAL OF CELLULAR PHYSIOLOGY
(2021)
Article
Cell Biology
Shizhi Wang, Bo Ding, Mengjing Cui, Wenjing Yan, Qianqian Xia, Dan Meng, Siyuan Shen, Shuqian Xie, Hua Jin, Xing Zhang
Summary: This study conducted a comprehensive pan-cancer analysis on FARGs, revealing their key roles in HPV-related cancers, especially in cervical cancer. By developing a prognostic risk score model and a nomogram model, accurate predictions were made for overall survival and recurrence-free survival in cervical cancer.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Medicine, Research & Experimental
Sara Fananas-Baquero, Oscar Quintana-Bustamante, Daniel P. Dever, Omaira Alberquilla, Rebeca Sanchez-Dominguez, Joab Camarena, Isabel Ojeda-Perez, Mercedes Dessy-Rodriguez, Rolf Turk, Mollie S. Schubert, Annalisa Lattanzi, Liwen Xu, Jose L. Lopez-Lorenzo, Paola Bianchi, Juan A. Bueren, Mark A. Behlke, Matthew Porteus, Jose-Carlos Segovia
Summary: Pyruvate kinase deficiency (PKD) is the main cause of chronic non-spherocytic hemolytic anemia, with the only curative treatment being allogeneic hematopoietic stem and progenitor cell transplant. This study demonstrates the correction of PKD through precise gene editing at the PKLR locus, providing a potential lifelong therapy for PKD patients by restoring RPK function in red blood cells.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT
(2021)
Article
Hematology
Elizabeth O. Stenger, Benjamin Watkins, Kelsey Rogowski, Kuang-Yueh Chiang, Ann Haight, Kathryn Leung, Muna Qayed, Sharmila Raghunandan, Yvonne Suessmuth, Leslie Kean, John Horan
Summary: Four doses of abatacept added to standard GVHD prophylaxis were found to be tolerable in pediatric patients with nonmalignant diseases following unrelated donor HCT, with no significant impact on immune reconstitution.
Article
Biochemistry & Molecular Biology
Jonathan J. Wilde, Tomomi Aida, Ricardo C. H. del Rosario, Tobias Kaiser, Peimin Qi, Martin Wienisch, Qiangge Zhang, Steven Colvin, Guoping Feng
Summary: By studying the role of RAD51 in increasing Cas9-mediated homozygous knockin efficiency in mouse embryos, evidence for an endogenous IHR mechanism in early embryos was provided. This process can be utilized to generate homozygotes from wild-type zygotes using exogenous donors and convert heterozygous alleles into homozygous alleles.
Article
Biotechnology & Applied Microbiology
Erin R. Burnight, Manav Gupta, Luke A. Wiley, Kristin R. Anfinson, Audrey Tran, Robinson Triboulet, Jeremy M. Hoffmann, Darcey L. Klaahsen, Jeaneen L. Andorf, Chunhua Jiao, Elliott H. Sohn, Malavika K. Adur, Jason W. Ross, Robert F. Mullins, George Q. Daley, Thorsten M. Schlaeger, Edwin M. Stone, Budd A. Tucker
Article
Cell Biology
Michael E. Coulter, Cristina M. Dorobantu, Gerrald A. Lodewijk, Francois Delalande, Sarah Cianferani, Vijay S. Ganesh, Richard S. Smith, Elaine T. Lim, C. Shan Xu, Song Pang, Eric T. Wong, Hart G. W. Lidov, Monica L. Calicchio, Edward Yang, Dilenny M. Gonzalez, Thorsten M. Schlaeger, Ganeshwaran H. Mochida, Harald Hess, Wei-Chung Allen Lee, Maria K. Lehtinen, Tomas Kirchhausen, David Haussler, Frank M. J. Jacobs, Raphael Gaudin, Christopher A. Walsh
Article
Cell Biology
Daisy A. Robinton, Jerome Chal, Edroaldo Lummertz da Rocha, Areum Han, Alena V. Yermalovich, Masayuki Oginuma, Thorsten M. Schlaeger, Patricia Sousa, Antony Rodriguez, Achia Urbach, Olivier Pourquie, George Q. Daley
DEVELOPMENTAL CELL
(2019)
Article
Multidisciplinary Sciences
S. P. Rowbotham, F. Li, A. F. M. Dost, S. Louie, B. P. Marsh, P. Pessina, C. R. Anbarasu, C. F. Brainson, S. J. Tuminello, A. Lieberman, S. Ryeom, T. M. Schlaeger, B. J. Aronow, H. Watanabe, K. K. Wong, C. F. Kim
NATURE COMMUNICATIONS
(2018)
Article
Biochemical Research Methods
Samuel J. Yang, Scott L. Lipnick, Nina R. Makhortova, Subhashini Venugopalan, Minjie Fan, Zan Armstrong, Thorsten M. Schlaeger, Liyong Deng, Wendy K. Chun, Liadan O'Callaghan, Anton Geraschenko, Dosh Whye, Marc Berndl, Jon Hazard, Brian Williams, Arunachalam Narayanaswamy, D. Michael Ando, Philip Nelson, Lee L. Rubin
Article
Cell & Tissue Engineering
Kang-Chieh Huang, Mong-Lien Wang, Shih-Jen Chen, Jean-Cheng Kuo, Won-Jing Wang, Phan Nguyen Nhi Nguyen, Karl J. Wahlin, Jyh-Feng Lu, Audrey A. Tran, Michael Shi, Yueh Chien, Aliaksandr A. Yarmishyn, Ping-Hsing Tsai, Tien-Chun Yang, Wann-Neng Jane, Chia-Ching Chang, Chi-Hsien Peng, Thorsten M. Schlaeger, Shih-Hwa Chiou
Article
Cell & Tissue Engineering
Michael J. Chen, Edroaldo Lummertz da Rocha, Patrick Cahan, Caroline Kubaczka, Phoebe Hunter, Patricia Sousa, Nathaniel K. Mullin, Yuko Fujiwara, Minh Nguyen, Yuqi Tan, Yi Zhou, Trista E. North, Leonard Zon, George Q. Daley, Thorsten M. Schlaeger
Article
Genetics & Heredity
Benjamin A. T. Rodriguez, Arunoday Bhan, Andrew Beswick, Peter C. Elwood, Teemu J. Niiranen, Veikko Salomaa, David-Alexandre Tregouet, Pierre-Emmanuel Morange, Mete Civelek, Yoav Ben-Shlomo, Thorsten Schlaeger, Ming-Huei Chen, Andrew D. Johnson
AMERICAN JOURNAL OF HUMAN GENETICS
(2020)
Article
Cardiac & Cardiovascular Systems
Dong Heon Lee, Chen Yao, Arunoday Bhan, Thorsten Schlaeger, Joshua Keefe, Benjamin A. T. Rodriguez, Shih-Jen Hwang, Ming-Huei Chen, Daniel Levy, Andrew D. Johnson
CIRCULATION RESEARCH
(2020)
Article
Cell & Tissue Engineering
Finn J. Hawkins, Shingo Suzuki, Mary Lou Beermann, Cristina Barilla, Ruobing Wang, Carlos Villacorta-Martin, Andrew Berical, J. C. Jean, Jake Le Suer, Taylor Matte, Chantelle Simone-Roach, Yang Tang, Thorsten M. Schlaeger, Ana M. Crane, Nadine Matthias, Sarah X. L. Huang, Scott H. Randell, Joshua Wu, Jason R. Spence, Gianni Carraro, Barry R. Stripp, Andras Rab, Eric J. Sorsher, Amjad Horani, Steven L. Brody, Brian R. Davis, Darrell N. Kotton
Summary: The directed differentiation of human iPSCs into airway basal cells (iBCs) demonstrates the functional characteristics of airway basal cells and can be used to model characteristic changes in airway diseases.
Article
Cell Biology
Carla Lopes, Yang Tang, Sandra Anjo, Bruno Manadas, Isabel Onofre, Luis P. de Almeida, George Q. Daley, Thorsten M. Schlaeger, Ana Cristina Carvalho Rego
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2020)
Article
Genetics & Heredity
Diane D. Shao, Rachel Straussberg, Hind Ahmed, Amjad Khan, Songhai Tian, R. Sean Hill, Richard S. Smith, Amar J. Majmundar, Najim Ameziane, Jennifer E. Neil, Edward Yang, Amal Al Tenaiji, Saumya S. Jamuar, Thorsten M. Schlaeger, Muna Al-Saffar, Iris Hovel, Aisha Al-Shamsi, Lina Basel-Salmon, Achiya Z. Amir, Lariza M. Rento, Jiin Ying Lim, Indra Ganesan, Shirlee Shril, Gilad Evrony, A. James Barkovich, Peter Bauer, Friedhelm Hildebrandt, Min Dong, Guntram Borck, Christian Beetz, Lihadh Al-Gazali, Wafaa Eyaid, Christopher A. Walsh
Summary: The study identified a recurrent frameshift variant in EMC10 in affected individuals from consanguineous families, leading to significantly reduced RNA expression and an unstable truncated protein. This homozygous loss-of-function variant in EMC10 may cause a novel syndromic neurodevelopmental phenotype, with the variant likely arising on distinct founder haplotypes.
GENETICS IN MEDICINE
(2021)
Article
Multidisciplinary Sciences
Ali R. Keramati, Ming-Huei Chen, Benjamin A. T. Rodriguez, Lisa R. Yanek, Arunoday Bhan, Brady J. Gaynor, Kathleen Ryan, Jennifer A. Brody, Xue Zhong, Qiang Wei, Kai Kammers, Kanika Kanchan, Kruthika Iyer, Madeline H. Kowalski, Achilleas N. Pitsillides, L. Adrienne Cupples, Bingshan Li, Thorsten M. Schlaeger, Alan R. Shuldiner, Jeffrey R. O'Connell, Ingo Ruczinski, Braxton D. Mitchell, Nauder Faraday, Margaret A. Taub, Lewis C. Becker, Joshua P. Lewis, Rasika A. Mathias, Andrew D. Johnson
Summary: Platelet aggregation is associated with myocardial infarction and stroke. A whole genome sequencing study identified a locus in RGS18, suggesting an effect on haematopoeitic lineage transcription factors.
NATURE COMMUNICATIONS
(2021)
Article
Public, Environmental & Occupational Health
Angel Rodriguez, M. William Lensch, Scott H. Podolsky
Summary: This article discusses the impact of racism on the careers of Black physicians, using William Augustus Hinton as a prime example. Hinton's story highlights the challenges faced by Black professionals in academic medicine due to interpersonal and systemic racism. Despite being an inspiring figure, Hinton's experiences also shed light on the persisting issues of racism within the field.
JOURNAL OF RACIAL AND ETHNIC HEALTH DISPARITIES
(2022)
Article
Hematology
William Marion, Steffen Boettcher, Sonya Ruiz-Torres, Edroaldo Lummertz da Rocha, Vanessa Lundin, Vivian Morris, Stephanie Chou, Anna M. Zhao, Caroline Kubaczka, Olivia Aumais, Yosra Zhang, Akiko Shimamura, Thorsten M. Schlaeger, Trista E. North, Benjamin L. Ebert, Susanne Wells, George Q. Daley, R. Grant Rowe