Article
Biochemistry & Molecular Biology
Cristina Zuccato, Lucia Carmela Cosenza, Matteo Zurlo, Giulia Breveglieri, Nicoletta Bianchi, Ilaria Lampronti, Jessica Gasparello, Chiara Scapoli, Monica Borgatti, Alessia Finotti, Roberto Gambari
Summary: The human homologue of mouse Ly-1 antibody reactive clone protein (LYAR) is a potential regulator of gamma-globin gene transcription. The LYAR rs368698783 (G > A) polymorphism is present in beta-thalassemia patients and reduces the LYAR binding efficiency to the A gamma-globin gene. This study aimed to stratify beta-thalassemia patients based on the rs368698783 (G > A) polymorphism and investigate their erythroid precursor cells' response to selected HbF inducers in vitro.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Wittaya Jomoui, Sitthichai Panyasai, Pornpun Sripornsawan, Wanicha Tepakhan
Summary: This study characterized α-thalassemia mutations among Hb H disease patients in Thailand and developed a new PCR method for diagnosis. The findings suggest that the common mutation --(SEA) should be included in routine genetic counseling and diagnosis in this region.
SCIENTIFIC REPORTS
(2023)
Article
Multidisciplinary Sciences
T. C. Stevenson Keller, Christophe Lechauve, Alexander S. Keller, Gilson Bras Broseghini-Filho, Joshua T. Butcher, Henry R. Askew Page, Aditi Islam, Zhe Yin Tan, Leon J. DeLalio, Steven Brooks, Poonam Sharma, Kwangseok Hong, Wenhao Xu, Alessandra Simao Padilha, Claire A. Ruddiman, Angela K. Best, Edgar Macal, Daniel B. Kim-Shapiro, George Christ, Zhen Yan, Miriam M. Cortese-Krott, Karina Ricart, Rakesh Patel, Timothy P. Bender, Swapnil K. Sonkusare, Mitchell J. Weiss, Hans Ackerman, Linda Columbus, Brant E. Isakson
Summary: The presence of alpha globin in endothelium of resistance arteries facilitates nitrite reduction and nitric oxide production in response to hypoxia, influencing vasodilation and exercise capacity.
NATURE COMMUNICATIONS
(2022)
Review
Medicine, General & Internal
Fangfang Wang, Ling Ling, Duonan Yu
Summary: Beta-thalassemia is a lethal inherited disease that requires regular blood transfusions, but other interventions like iron chelation, stem cell transplantation, and gene therapy have improved quality of life. Certain microRNAs play important roles in regulating globin expression and can potentially serve as biomarkers for diagnosing and predicting outcomes of beta-thalassemia.
AMERICAN JOURNAL OF THE MEDICAL SCIENCES
(2021)
Article
Medicine, General & Internal
Thunwarat Suriyun, Pranee Winichagoon, Suthat Fucharoen, Orapan Sripichai
Summary: This study investigated the characteristics of erythroid maturation in patients with β(0)-thalassemia/HbE and found delayed maturation and impaired mitochondrial clearance. The study also revealed increased transcript levels of BNIP3L and PINK1, genes related to erythroid mitophagy, in erythroblasts of these patients.
JOURNAL OF CLINICAL MEDICINE
(2022)
Editorial Material
Hematology
Lorenza Torti
Summary: In the past, pregnancy for thalassaemia patients was highly risky and discouraged. However, recent research shows that thalassaemic women can now have successful pregnancies with no significant difference in maternal outcomes compared to non-thalassaemic women.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Hematology
Kritsada Singha, Goonnapa Fucharoen, Supan Fucharoen
Summary: This study conducted extensive molecular characterization of delta-hemoglobinopathies in Thailand, identifying 10 different mutations and developing rapid identification methods. The results provide valuable information for a prevention and control program of hemoglobinopathies in the region.
ANNALS OF HEMATOLOGY
(2021)
Article
Hematology
Anupong Pansuwan, Supawadee Yamsri, Duangrudee Changtrakul, Goonnapa Fucharoen, Supan Fucharoen
Summary: Most laboratories in Thailand showed excellent performance in the proficiency testing program for hemoglobinopathies, but there is still room for improvement in interpreting and assessing the risk of complex thalassemia diseases.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2021)
Article
Medicine, General & Internal
Woratree Kaewsakulthong, Thunwarat Suriyun, Sukanya Chumchuen, Usanarat Anurathapan, Suradej Hongeng, Suthat Fucharoen, Orapan Sripichai
Summary: The pathophysiological properties of erythroid cells derived from different types of thalassemia were investigated. It was found that thalassemia cells exhibited accelerated expansion and limited differentiation. The severity of erythroid maturation arrest varied among different types of thalassemia. The induction of HSP70 transcripts was robust in thalassemia erythroid cells. Increased cell death was observed in homozygous beta(0)-thalassemia erythroblasts and associated with specific gene expression regulation.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Pharmacology & Pharmacy
Yanfei Lu, Zhenbin Wei, Gaohui Yang, Yongrong Lai, Rongrong Liu
Summary: Thalidomide is a relatively safe and effective therapy for treating ss-thalassemia, reducing the need for blood transfusions and increasing hemoglobin levels.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Medicine, General & Internal
Lin Zheng, Hailong Huang, Xiaoqing Wu, Linjuan Su, Qingmei Shen, Meiying Wang, Na Lin, Liangpu Xu
Summary: This study aimed to investigate the screening efficiency of MCV, MCH, and HbA(2) in different genotypes of alpha-thalassemia in Fujian Province, China. The results showed significant differences in the distribution of these indicators between different groups, and combined screening improved the detection rate of alpha-thalassemia.
INTERNATIONAL JOURNAL OF GENERAL MEDICINE
(2021)
Article
Hematology
Wasuwit Wanchaitanawong, Adisak Tantiworawit, Pokpong Piriyakhuntorn, Thanawat Rattanathammethee, Sasinee Hantrakool, Chatree Chai-Adisaksopha, Ekarat Rattarittamrong, Lalita Norasetthada, Piangrawee Niprapan, Kanda Fanhchaksai, Pimlak Charoenkwan
Summary: Lower Hb levels were associated with more frequent complications in both TDT and NTDT patients. Specific Hb cutoff values were identified for predicting these complications.
Article
Chemistry, Medicinal
Zheng-Sheng Lai, Teng-Kuang Yeh, Yu-Chi Chou, Tsu Hsu, Cheng-Tai Lu, Fang-Chun Kung, Ming-Yen Hsieh, Chun-Hung Lin, Chiung-Tong Chen, Che-Kun James Shen, Weir-Torn Jiaang
Summary: A more potent inducer, compound 13a, was discovered in this study, which can efficiently induce gamma-globin gene expression at non-cytotoxic concentrations and ameliorate anemia and related symptoms in SCD mice through oral administration.
EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY
(2021)
Article
Medical Laboratory Technology
Kritsada Singha, Wanicha Tepakhan, Supawadee Yamsri, Attawut Chaibunruang, Hataichanok Srivorakun, Anupong Pansuwan, Goonnapa Fucharoen, Supan Fucharoen
Summary: This study reports the molecular basis and hematological features of deletional high Hb F determinants in Thailand, revealing their prevalence and heterogeneity. The data on the prevalence, molecular spectrum, phenotypic expression, and complex interactions of these genetic determinants should prove useful in the study and prevention and control of hemoglobinopathies in the region.
CLINICA CHIMICA ACTA
(2023)
Article
Genetics & Heredity
Xin Guo, Zhiguo Liu, Yulian Mu, Lei Huang, Kui Li, Jing Zhang
Summary: In this study, the researchers investigated the expression patterns of beta-thalassemia-related genes in pigs and their evolutionary relationship with humans and mice. They discovered a new hemoglobin-encoding gene in pigs and observed high structural similarity between the beta-chains of pigs and humans. The study also revealed significant differences in the spatiotemporal expression patterns of four genes among different pig breeds. These findings provide a valuable foundation for the development of a gene-edited beta-thalassemia miniature pig model and the evaluation of beta-thalassemia treatments.
Article
Oncology
Sarah K. Tasian, Jessica A. Casas, David Posocco, Shilpa Gandre-Babbe, Alyssa L. Gagne, Ge Liang, Mignon L. Loh, Mitchell J. Weiss, Deborah L. French, Stella T. Chou
Letter
Hematology
Rima S. Zahr, Evadnie Rampersaud, Guolian Kang, Mitchell J. Weiss, Gang Wu, Robert L. Davis, Jane S. Hankins, Jeremie H. Estepp, Jeffrey Lebensburger
Article
Medicine, General & Internal
Ewelina Mamcarz, Sheng Zhou, Timothy Lockey, Hossam Abdelsamed, Shane J. Cross, Guolian Kang, Zhijun Ma, Jose Condori, Jola Dowdy, Brandon Triplett, Chen Li, Gabriela Maron, Juan C. Aldave Becerra, Joseph A. Church, Elif Dokmeci, James T. Love, Ana C. da Matta Ain, Hedi van der Watt, Xing Tang, William Janssen, Byoung Y. Ryu, Suk See De Ravin, Mitchell J. Weiss, Benjamin Youngblood, Janel R. Long-Boyle, Stephen Gottschalk, Michael M. Meagher, Harry L. Malech, Jennifer M. Puck, Morton J. Cowan, Brian P. Sorrentino
NEW ENGLAND JOURNAL OF MEDICINE
(2019)
Article
Oncology
Maurice Labuhn, Kelly Perkins, Soeren Matzk, Leila Varghese, Catherine Garnett, Elli Papaemmanuil, Marlen Metzner, Alison Kennedy, Vyacheslav Amstislayskiy, Thomas Risch, Raj Bhayadia, David Samulowski, David Cruz Hernandez, Bilyana Stoilova, Valentina Lotchkova, Udo Oppermann, Carina Scheer, Kenichi Yoshida, Adrian Schwarzer, Jeffrey Taub, John D. Crispino, Mitchell J. Weiss, Asuhide Hayashi, Takashi Taga, Etsuro Ito, Seishi Ogawa, Dirk Reinhardt, Marie-Laure Yaspo, Peter J. Campbell, Irene Roberts, Stefan Constantinescu, Paresh Vyas, Dirk Heckl, Jan-Henning Klusmann
Article
Cell Biology
Christophe Lechauve, Julia Keith, Eugene Khandros, Stephanie Fowler, Kalin Mayberry, Abdullah Freiwan, Christopher S. Thom, Paola Delbini, Emilio Boada Romero, Jingjing Zhang, Irene Motta, Heather Tillman, M. Domenica Cappellini, Mondira Kundu, Mitchell J. Weiss
SCIENCE TRANSLATIONAL MEDICINE
(2019)
Article
Biochemistry & Molecular Biology
Guanjue Xiang, Cheryl A. Keller, Elisabeth Heuston, Belinda M. Giardine, Lin An, Alexander Q. Wixom, Amber Miller, April Cockburn, Michael E. G. Sauria, Kathryn Weaver, Jens Lichtenberg, Berthold Gottgens, Qunhua Li, David Bodine, Shaun Mahony, James Taylor, Gerd A. Blobel, Mitchell J. Weiss, Yong Cheng, Feng Yue, Jim Hughes, Douglas R. Higgs, Yu Zhang, Ross C. Hardison
Letter
Hematology
Naoya Uchida, Alexis Leonard, David Stroncek, Sandhya R. Panch, Kamille West, Eoghan Molloy, Thomas E. Hughes, Sara Hauffe, Tiffani Taylor, Courtney Fitzhugh, Jane S. Hankins, Megan Wilson, Akshay Sharma, Shengdar Q. Tsai, Mitchell J. Weiss, Matthew Hsieh, John F. Tisdale
Article
Hematology
Ti-Cheng Chang, Kelly M. Haupfear, Jing Yu, Evadnie Rampersaud, Vivien A. Sheehan, Jonathan M. Flanagan, Jane S. Hankins, Mitchell J. Weiss, Gang Wu, Sunitha Vege, Connie M. Westhoff, Stella T. Chou, Yan Zheng
Article
Hematology
Peng Xu, Daniel C. Scott, Beisi Xu, Yu Yao, Ruopeng Feng, Li Cheng, Kalin Mayberry, Yong-Dong Wang, Wenjian Bi, Lance E. Palmer, Moeko T. King, Hong Wang, Yuxin Li, Yiping Fan, Arno F. Alpi, Chunliang Li, Junmin Peng, James Papizan, Shondra M. Pruett-Miller, Ria Spallek, Florian Bassermann, Yong Cheng, Brenda A. Schulman, Mitchell J. Weiss
Summary: The E3 ubiquitin ligase FBXO11 relieves PRC2-mediated transcriptional repression during erythroid maturation by targeting its substrate BAHD1. Lack of FBXO11 in erythroblasts leads to developmental delay and reduced expression of maturation-associated genes. BAHD1 acts as a novel effector of PRC2-mediated repression and interacts physically with PRC2, highlighting a mechanism for eliminating PRC2 repression at developmentally poised genes during erythropoiesis.
Article
Biochemistry & Molecular Biology
Xianjiang Lan, Ren Ren, Ruopeng Feng, Lana C. Ly, Yemin Lan, Zhe Zhang, Nicholas Aboreden, Kunhua Qin, John R. Horton, Jeremy D. Grevet, Thiyagaraj Mayuranathan, Osheiza Abdulmalik, Cheryl A. Keller, Belinda Giardine, Ross C. Hardison, Merlin Crossley, Mitchell J. Weiss, Xiaodong Cheng, Junwei Shi, Gerd A. Blobel
Summary: ZNF410 is a pentadactyl DNA-binding protein that activates only one gene, CHD4, in human erythroid cells. Loss of ZNF410 leads to decreased CHD4 levels and derepression of fetal hemoglobin genes, revealing their sensitivity to reduced CHD4 levels. The specific binding sites near the CHD4 gene provide the specificity of ZNF410's transcriptional activation in erythroid cells.
Article
Biochemistry & Molecular Biology
Oezge Karayel, Peng Xu, Isabell Bludau, Senthil Velan Bhoopalan, Yu Yao, Freitas Colaco Ana Rita, Alberto Santos, Brenda A. Schulman, Arno F. Alpi, Mitchell J. Weiss, Matthias Mann
MOLECULAR SYSTEMS BIOLOGY
(2020)
Article
Oncology
Clay McLeod, Alexander M. Gout, Xin Zhou, Andrew Thrasher, Delaram Rahbarinia, Samuel W. Brady, Michael Macias, Kirby Birch, David Finkelstein, Jobin Sunny, Rahul Mudunuri, Brent A. Orr, Madison Treadway, Bob Davidson, Tracy K. Ard, Arthur Chiao, Andrew Swistak, Stephanie Wiggins, Scott Foy, Jian Wang, Edgar Sioson, Shuoguo Wang, J. Robert Michael, Yu Liu, Xiaotu Ma, Aman Patel, Michael N. Edmonson, Mark R. Wilkinson, Andrew M. Frantz, Ti-Cheng Chang, Liqing Tian, Shaohua Lei, S. M. Ashiqul Islam, Christopher Meyer, Naina Thangaraj, Pamella Tater, Vijay Kandali, Singer Ma, Tuan Nguyen, Omar Serang, Irina McGuire, Nedra Robison, Darrell Gentry, Xing Tang, Lance E. Palmer, Gang Wu, Ed Suh, Leigh Tanner, James McMurry, Matthew Lear, Alberto S. Pappo, Zhaoming Wang, Carmen L. Wilson, Yong Cheng, Soheil Meshinchi, Ludmil B. Alexandrov, Mitchell J. Weiss, Gregory T. Armstrong, Leslie L. Robison, Yutaka Yasui, Kim E. Nichols, David W. Ellison, Chaitanya Bangur, Charles G. Mullighan, Suzanne J. Baker, Michael A. Dyer, Geralyn Miller, Scott Newman, Michael Rusch, Richard Daly, Keith Perry, James R. Downing, Jinghui Zhang
Summary: Effective data sharing is crucial in accelerating research and improving diagnostic precision, treatment efficacy, and long-term survival rates for pediatric cancer. St. Jude Cloud provides a cloud-based ecosystem with over 1.2 petabytes of genomic data from over 10,000 pediatric patients, enabling advanced data analysis and knowledge enhancement in pediatric cancer research.
Article
Medicine, Research & Experimental
Selami Demirci, Jing Zeng, Yuxuan Wu, Naoya Uchida, Anne H. Shen, Danilo Pellin, Jackson Gamer, Morgan Yapundich, Claire Drysdale, Jasmine Bonanno, Aylin C. Bonifacino, Allen E. Krouse, Nathaniel S. Linde, Theresa Engels, Robert E. Donahue, Juan J. Haro-Mora, Alexis Leonard, Tina Nassehi, Kevin Luk, Shaina N. Porter, Cicera R. Lazzarotto, Shengdar Q. Tsai, Mitchell J. Weiss, Shondra M. Pruett-Miller, Scot A. Wolfe, Daniel E. Bauer, John F. Tisdale
JOURNAL OF CLINICAL INVESTIGATION
(2020)
Article
Hematology
Jean-Yves Metais, Phillip A. Doerfler, Thiyagaraj Mayuranathan, Daniel E. Bauer, Stephanie C. Fowler, Matthew M. Hsieh, Varun Katta, Sagar Keriwala, Cicera R. Lazzarotto, Kevin Luk, Michael D. Neel, S. Scott Perry, Samuel T. Peters, Shaina N. Porter, Byoung Y. Ryu, Akshay Sharma, Devlin Shea, John F. Tisdale, Naoya Uchida, Scot A. Wolfe, Kaitly J. Woodard, Yuxuan Wu, Yu Yao, Jing Zeng, Shondra Pruett-Miller, Shengdar Q. Tsai, Mitchell J. Weiss
Article
Medicine, Research & Experimental
David Claassen, Michelle Boals, Kevin M. Bowling, Gregory M. Cooper, Jennifer Cox, Michael Hershfield, Sara Lewis, Marcin Wlodarski, Mitchell J. Weiss, Jeremie H. Estepp
COLD SPRING HARBOR MOLECULAR CASE STUDIES
(2018)
Article
Oncology
Toma S. Omofoye, Anganile Kalinga, Ramapriya Ganti, Frank J. Minja, Timothy B. Rooney
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)
Article
Oncology
Prarthna V. Bhardwaj, Renuka Dulala, Senthil Rajappa, Chandravathi Loke
Summary: The management of breast cancers in India needs greater emphasis on awareness, early detection, standard pathologic testing, and cost-effective solutions. With standardized management, outcomes similar to those of developed countries can be expected. Additionally, clinical trials aimed at a more diverse population in LMICs like India should be undertaken.
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)
Article
Oncology
Victoria E. Forbes, Mary D. Chamberlin, Vincent Dusabejambo, Tim Walker, Steve P. Bensen, Norrisa Haynes, Kathryn Nunes, Veauthyelau Saint-Joy, Frederick L. Makrauer
Summary: Global health education needs to adapt to the challenges we face, such as inequities and pandemics. Virtual teaching models are effective in delivering global health education and improving outcomes through bidirectional learning and equitable partnerships.
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)
Article
Oncology
Tefta Isufaj Haliti, Ilir Hoxha, Rubena Mojsiu, Rohini Mandal, Goksu Goc, Kreshnike Dedushi Hoti
Summary: The IOTA Simple Rules have high diagnostic performance in distinguishing between benign and malignant adnexal masses, providing a reliable tool for early diagnosis of ovarian cancer.
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)
Article
Oncology
Cecilia Felix Penido Mendes de Sousa, Jared Pasetsky, Gustavo Nader Marta, Megan Kassick, Fabio Ynoe Moraes, Luqman K. Dad
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)
Article
Oncology
Mary D. Chamberlin, Dafina Ademi Islami, Shqiptar Demaci, Richard J. Barth Jr
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)
Review
Oncology
Jeta Bunjaku, Arber Lama, Tawanda Pesanayi, Jeton Shatri, Mary Chamberlin, Ilir Hoxha
Summary: The evidence suggests that lifestyle factors such as alcohol and coffee intake may increase the risk of lung cancer, while tea intake may have a protective effect. However, the quality of evidence is currently low and further research is needed.
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)
Article
Oncology
Mary Chamberlin, Christopher Booth, Gabriel A. Brooks, Achille Manirakiza, Fidel Rubagumya, Verna Vanderpuye
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)
Article
Oncology
Anne Christine Buteau, Alicia Castelo-Loureiro, Regina Barragan-Carrillo, Suyapa Bejarano, Alba J. Kihn-Alarcon, Enrique Soto-Perez-de-Celis
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)
Review
Oncology
Ilir Hoxha, Fitim Sadiku, Lot Hoxha, Midhet Nasim, Marie Anne Christine Buteau, Krenare Grezda, Mary D. Chamberlin
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
(2024)