Article
Multidisciplinary Sciences
Yi-Ran Wang, Ting-Ting Guo, Ya-Ting Zheng, Chang-Wei Lai, Bo Sun, Xu-Guang Xi, Xi-Miao Hou
Summary: Studies have shown that human RPA efficiently prevents G4 formation by preempting ssDNA and interacts differentially with folded G4s. Helicases such as BLM and Pif1 have different G4 preferences mainly based on loop lengths. Both RPA and helicases are required for stable G4 unfolding, with BLM capable of temporarily traversing G4 obstacles disrupted by RPA.
Article
Biochemistry & Molecular Biology
Mohammad Ekhlak, Paresh P. Kulkarni, Vipin Singh, Susheel N. Chaurasia, Saroj Kant Mohapatra, Rameshwar Nath Chaurasia, Debabrata Dash
Summary: This study demonstrates the important role of MLKL in the transformation of stimulated platelets to active haemostatic units and their subsequent progression to necrotic death.
CELL DEATH AND DIFFERENTIATION
(2023)
Review
Immunology
Xavier Charmetant, Thomas Bachelet, Julie Dechanet-Merville, Thierry Walzer, Olivier Thaunat
Summary: Transplant immunology has traditionally focused on T and B lymphocytes, but recent advances have highlighted the complexity of the innate immune system and the role of different subsets of innate (and innate-like) lymphoid cells in graft rejection and tolerance. These emerging immune players are actively involved in various stages of grafts and recipients' lives, beyond the initial phase of ischemia/reperfusion.
Review
Immunology
Nilberto Dias de Araujo, Fabio Magalhaes Gama, Mateus de Souza Barros, Thais Lohana Pereira Ribeiro, Fabiola Silva Alves, Lilyane Amorim Xabregas, Andrea Monteiro Tarrago, Adriana Malheiro, Allyson Guimaraes Costa
Summary: Unconventional T cell populations, including gamma-delta T cells, natural killer T cells, and mucosal-associated invariant T cells, have the potential to recognize lipid antigens and play a more effective role in cancer immunotherapy. Associated with anti- or protumor responses, these cell populations are important in solid tumors and hematological malignancies, encouraging further research into their immunotherapeutic potential.
JOURNAL OF IMMUNOLOGY RESEARCH
(2021)
Review
Biochemistry & Molecular Biology
Seohyun Kim, Sumin Cho, Ji Hyung Kim
Summary: The CD1 molecule presents glycolipid/lipid antigens and CD1-restricted T cells play important roles in both innate and adaptive immune responses. CD1s are expressed in professional and nonprofessional antigen-presenting cells in mucosal tissues, indicating their involvement in the immune responses of these tissues. Understanding the molecular mechanisms of CD1-mediated antigen presentation and its defects could lead to new therapeutic approaches for CD1-associated diseases.
EXPERIMENTAL AND MOLECULAR MEDICINE
(2023)
Editorial Material
Pediatrics
Steven H. Abman, Sarah Armstrong, Susan Baker, Clifford W. Bogue, Waldemar Carlo, Lina Chalak, Stephen R. Daniels, Stephanie Davis, Michael R. Debaun, Candice Fike, Lauren Frazer, Keisha Gibson, Michelle Gill, Hannah Glass, Catherine M. Gordon, Monika Goyal, Joel Hirschhorn, Lori Holtz, David Hunstad, Mary B. Leonard, Nathalie Maitre, Larry Markham, Linda McAllister-Lucas, Jordan Orange, Prachi Shah, Tamar Simon, Robin H. Steinhorn, Beth Tarini, Leslie R. Walker-Harding
PEDIATRIC RESEARCH
(2022)
Article
Rheumatology
Lauren A. Henderson, Scott W. Canna, Kevin G. Friedman, Mark Gorelik, Sivia K. Lapidus, Hamid Bassiri, Edward M. Behrens, Anne Ferris, Kate F. Kernan, Grant S. Schulert, Philip Seo, Mary Beth F. Son, Adriana H. Tremoulet, Rae S. M. Yeung, Amy S. Mudano, Amy S. Turner, David R. Karp, Jay J. Mehta
Summary: This article provides guidance on the management of Multisystem Inflammatory Syndrome in Children (MIS-C) and hyperinflammation in children with coronavirus disease 2019 (COVID-19). A multidisciplinary Task Force developed 40 guidance statements and a flow diagram for the diagnostic pathway of MIS-C.
ARTHRITIS & RHEUMATOLOGY
(2021)
Article
Immunology
Stephanie J. Si, Sarah K. Tasian, Hamid Bassiri, Brian T. Fisher, Jasmyn Atalla, Reema Patel, Neil Romberg, Michele P. Lambert, Michele Paessler, Edward J. Behrens, David T. Teachey, Kathleen E. Sullivan
Summary: HLH is a syndrome of severe immune dysregulation with a complex diagnosis process, leading to potential delays in treatment initiation.
JOURNAL OF CLINICAL IMMUNOLOGY
(2021)
Article
Rheumatology
Lauren A. Henderson, Scott W. Canna, Kevin G. Friedman, Mark Gorelik, Sivia K. Lapidus, Hamid Bassiri, Edward M. Behrens, Kate F. Kernan, Grant S. Schulert, Philip Seo, Mary Beth F. Son, Adriana H. Tremoulet, Christina VanderPluym, Rae S. M. Yeung, Amy S. Mudano, Amy S. Turner, David R. Karp, Jay J. Mehta
Summary: This study provides guidance on the management of Multisystem Inflammatory Syndrome in Children (MIS-C) and hyperinflammation during COVID-19. The guidance was developed through expert consensus and includes 41 guidance statements and flow diagrams for the diagnosis and initial treatment of MIS-C.
ARTHRITIS & RHEUMATOLOGY
(2022)
Letter
Hematology
Marta Salek, Ninad Oak, Melissa Hines, Jamie L. Maciaszek, Ruth Tatevossian, Akshay Sharma, Kim E. Nichols, Patrick Campbell
Article
Oncology
Caroline Diorio, Rawan Shraim, Regina Myers, Edward M. Behrens, Scott Canna, Hamid Bassiri, Richard Aplenc, Chakkapong Burudpakdee, Fang Chen, Amanda M. DiNofia, Saar Gill, Vanessa Gonzalez, Michele P. Lambert, Allison Barz Leahy, Bruce L. Levine, Robert B. Lindell, Shannon L. Maude, J. Joseph Melenhorst, Haley Newman, Jessica Perazzelli, Alix E. Seif, Simon F. Lacey, Carl H. June, David M. Barrett, Stephan A. Grupp, David T. Teachey
Summary: In this study, we used proteomic profiling to identify predictive biomarkers for severe CRS and found that IFN gamma pathway plays a fundamental role in driving CRS. We also identified a potentially targetable cytokine associated with ICANS. These findings have important implications for disease treatment.
CLINICAL CANCER RESEARCH
(2022)
Article
Oncology
Suzanne P. MacFarland, Luke Maese, Surya P. Rednam, Junne Kamihara, Melissa R. Perrino, Kim E. Nichols, Garrett M. Brodeur, Joshua D. Schiffman, Sharon E. Plon, Lisa R. Diller, David Malkin, Christopher C. Porter, Anita Villani
Summary: Germline pathogenic variants are frequently found in children with cancer. Due to the rarity and underrecognition of pediatric cancer predisposition syndromes, a new consortium has been established to optimize care and advance research in this area.
CANCER PREVENTION RESEARCH
(2022)
Article
Genetics & Heredity
Leora Witkowski, Kim E. Nichols, Marjolijn Jongmans, Nienke van Engelen, Ronald R. de Krijger, Jennifer Herrera-Mullar, Lieve Tytgat, Armita Bahrami, Helen Mar Fan, Aimee L. Davidson, Thomas Robertson, Michael Anderson, Martin Hasselblatt, Sharon E. Plon, William D. Foulkes
Summary: Heterozygous germline pathogenic variants in the SMARCA4 gene can predispose to several rare tumour types, including neuroblastoma. These findings suggest that neuroblastoma should be included in the spectrum of SMARCA4-associated tumours.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Oncology
Margaret B. B. Nagel, Melissa R. R. Perrino, Regina Nuccio, Alise K. K. Blake, Lynn Harrison, Kim E. E. Nichols, Alberto S. S. Pappo
Summary: In this retrospective study, the prevalence and spectrum of germline variants in cancer predisposition genes were examined in 38 children and young adults with melanocytic lesions at St. Jude Children's Research Hospital. The study found that 15.8% of patients had pathogenic germline variants, including various genetic mutations in genes such as PMS2, TP53, BRIP1, ATM, and AXIN2.
PEDIATRIC BLOOD & CANCER
(2023)
Editorial Material
Hematology
Lauren K. Meyer, Kim E. Nichols
Summary: In this article, the authors present a novel in vitro approach to study germline variants in genes associated with familial hemophagocytic lymphohistiocytosis (fHLH). This method enables the analysis of variants of uncertain significance (VUS) and provides insights into their functional consequences.
Letter
Hematology
Matthew R. Schuelke, Hamid Bassiri, Edward M. Behrens, Scott Canna, Colleen Croy, Amanda DiNofia, Kandace Gollomp, Stephan Grupp, Michele Lambert, Arathi Lambrix, Shannon L. Maude, Regina Myers, Haley Newman, Whitney Petrosa, Alix Seif, Kathleen E. Sullivan, David T. Teachey, Caroline Diorio
Article
Oncology
Belinda N. Mandrell, Liza Marie Johnson, Mary Caples, Jami Gattuso, Jamie L. Maciaszek, Roya Mostafavi, Katianne M. Howard Sharp, Kim E. Nichols
Summary: This study aimed to understand parent preferences regarding the timing and content of consent conversations for clinical germline genetic testing of children with cancer. The survey results revealed that most parents preferred consent conversations to take place one month after the cancer diagnosis and desired testing of as many cancer-related genes as possible.
JCO PRECISION ONCOLOGY
(2022)
Article
Oncology
Yao-Yu Gong, Hongguang Shao, Yu Li, Patricia Brafford, Zachary E. Stine, Jing Sun, Dean W. Felsher, Jordan S. Orange, Steven M. Albelda, Chi Dang
Summary: This study demonstrates the feasibility of metabolic engineering immune effector cells to overcome inhibition in the tumor microenvironment, an approach that could enhance the efficacy of adoptive transfer immunotherapy.
CANCER RESEARCH COMMUNICATIONS
(2022)
Article
Psychology, Clinical
Holly M. Hasler, Alise Murray, Kristin E. Canavera, Kendra R. Parris, Kim E. Nichols, Lisa M. Jacola
Summary: This study found that individuals with PTEN hamartoma tumor syndrome (PHTS) commonly experience cognitive difficulties, including borderline to average global intellectual functioning and deficits in non-verbal reasoning, visual-motor integration, math achievement, and adaptive skills. Therefore, routine neurocognitive assessment should be considered in the management of PHTS patients.
JOURNAL OF PEDIATRIC NEUROPSYCHOLOGY
(2022)
Article
Hematology
Yixin Hu, Kenneth J. Caldwell, Mihaela Onciu, Sara M. Federico, Marta Salek, Sara Lewis, Shaohua Lei, Jinghui Zhang, Kim E. Nichols, Clifford M. Takemoto, Brandon M. Triplett, Jason E. Farrar, Jeffrey E. Rubnitz, Raul C. Ribeiro, Marcin W. Wlodarski
Summary: CP X-351, a fixed ratio of liposomal cytarabine to daunorubicin, is effective and well-tolerated in pediatric sMDS/AML patients, showing complete morphologic remission without significant toxicity. Prospective studies are warranted to further evaluate its potential in this population.