Results 61 to 70 of about 5,426,861 (329)

The role of histone modifications in transcription regulation upon DNA damage

FEBS Letters, EarlyView.
This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley   +1 more source

Treatment of primary immunodeficiency with allogeneic transplant and gene therapy.

Hematology. American Society of Hematology. Education Program, 2019
The treatment of primary immunodeficiency disorders with allogeneic hematopoietic cell transplantation (HCT) has a history dating back to 1968 with the first successful transplant for a patient with severe combined immunodeficiency (SCID).
S. Pai
semanticscholar   +1 more source

The newfound relationship between extrachromosomal DNAs and excised signal circles

FEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia

Frontiers in Immunology, 2023
BackgroundBruton’s tyrosine kinase (BTK) is a cytoplasmic protein involved in the B cell development. X-linked agammaglobulinemia (XLA) is caused by mutation in the BTK gene, which results in very low or absent B cells.
Chai Teng Chear, Intan Hakimah Ismail, Kwai Cheng Chan, Lokman Mohd Noh, Asiah Kassim, Amir Hamzah Abdul Latiff, Sandeep Singh Gill, Nazatul Haslina Ramly, Kah Kee Tan, Charlotte Sundaraj, Chong Ming Choo, Sharifah Adlena Syed Mohamed, Mohd Farid Baharin, Amelia Suhana Zamri, Sharifah Nurul Husna Syed Yahya, Saharuddin Bin Mohamad, Saharuddin Bin Mohamad, Adiratna Mat Ripen   +17 more
doaj   +1 more source

Conditioning Regimens for Hematopoietic Cell Transplantation in Primary Immunodeficiency

Current Allergy and Asthma Reports, 2019
Hematopoietic cell transplantation (HCT) is an established curative treatment for children with primary immunodeficiencies. This article reviews the latest developments in conditioning regimens for primary immunodeficiency (PID).
S. Lum, Manfred Hoenig, A. Gennery, A. Gennery, M. Slatter, M. Slatter   +5 more
semanticscholar   +1 more source

Investigating the cell of origin and novel molecular targets in Merkel cell carcinoma: a historic misnomer

Molecular Oncology, EarlyView.
This study indicates that Merkel cell carcinoma (MCC) does not originate from Merkel cells, and identifies gene, protein & cellular expression of immune‐linked and neuroendocrine markers in primary and metastatic Merkel cell carcinoma (MCC) tumor samples, linked to Merkel cell polyomavirus (MCPyV) status, with enrichment of B‐cell and other immune cell
Richie Jeremian, Sriraam Sivachandran, Melissa Galati, Brandon Ramchatesingh, Hibo Rijal, Johnny Hanna, Elena Netchiporouk, May Chergui, Margaret Redpath, Samy Abou Setah, Ivan V. Litvinov   +10 more
wiley   +1 more source

YAP1::TFE3 mediates endothelial‐to‐mesenchymal plasticity in epithelioid hemangioendothelioma

Molecular Oncology, EarlyView.
The YAP1::TFE3 fusion protein drives endothelial‐to‐mesenchymal transition (EndMT) plasticity, resulting in the loss of endothelial characteristics and gain of mesenchymal‐like properties, including resistance to anoikis, increased migratory capacity, and loss of contact growth inhibition in endothelial cells.
Ant Murphy, Samuel Hartzler, Paula A. Vargas Carranza, Shyaman Jayasundara, Madison E. Yates, Nimod D. Janson, Bozhi Liu, Annaleigh Benton, Majid Kazemian, Jason A. Hanna   +9 more
wiley   +1 more source

Diminished toll-like receptor response in febrile infection-related epilepsy syndrome (FIRES)

Biomedical Journal, 2020
Background: Defective human TLR3 signaling causes recurrent and refractory herpes simplex encephalitis/encephalopathy. Children with febrile infection-related epilepsy syndrome with refractory seizures may have defective TLR responses.
Meng-Ying Hsieh, Jainn-Jim Lin, Shao-Hsuan Hsia, Jing-Long Huang, Kuo-Wei Yeh, Kuei-Wen Chang, Wen-I. Lee   +6 more
doaj   +1 more source

Evaluating Safety, Tolerability, and Efficacy of Subcutaneous Human Immunoglobulin 16.5% Administered at Modified Dosing Regimens in Patients with Primary Immunodeficiency Diseases – Study Design [PDF]

, 2021
Isaac Melamed, Sudhir Gupta, Roger H. Kobayashi, Michael Eppolito, Joanna Maltese, Syed Rizvi, Ai Kobayashi   +6 more
openalex   +1 more source

Calculation of a Primary Immunodeficiency “Risk Vital Sign” via Population-Wide Analysis of Claims Data to Aid in Clinical Decision Support

Frontiers in Pediatrics, 2019
Background: Early diagnosis of primary immunodeficiency disease leads to reductions in illness and decreased healthcare costs. Analysis of electronic health record data may allow for identification of persons at risk of host-defense impairments from ...
N. Rider, Di Miao, M. Dodds, V. Modell, F. Modell, J. Quinn, H. Schwarzwald, J. Orange   +7 more
semanticscholar   +1 more source