Results 21 to 30 of about 322,522 (245)
Background A retrospective review of clinical manifestations and demographic pattern of patients diagnosed as chronic granulomatous disease (CGD) from 7 hospitals in Malaysia. An analysis of the available database would establish clinical characteristics,
Lokman Mohd Noh +22 more
doaj +1 more source
Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience
Ataxia telangiectasia (AT) is a genetic condition caused by mutations involving ATM (Ataxia Telangiectasia Mutated). This gene is responsible for the expression of a DNA double stranded break repair kinase, the ATM protein kinase.
Amarilla B. Mandola +10 more
doaj +1 more source
BCG: a vaccine with multiple faces
BCG has been recommended because of its efficacy against disseminated and meningeal tuberculosis. The BCG vaccine has other mechanisms of action besides tuberculosis protection, with immunomodulatory properties that are now being discovered. Reports have
Marco Antonio Yamazaki-Nakashimada +4 more
doaj +1 more source
The riddle of recurrent fever: a clinical approach to pediatric autoinflammatory diseases
Autoinflammatory diseases (AIDs) are a group of immunodysregulatory disorders resulting in the increased release or signaling of pro-inflammatory cytokines.
B. Meertens +9 more
doaj +1 more source
Diarrhoea lasting longer than 14 days and failing to respond to conventional management is defined as severe and protracted diarrhoea (SD). In this study, we investigated the prevalence, pathogens and prognosis of SD in primary immunodeficiency diseases (
Wen-I Lee +5 more
doaj +1 more source
Acute graft-versus-host disease (aGvHD) continues to be a major obstacle to allogeneic haematopoietic stem cell transplantation. Thymic damage secondary to aGvHD along with corticosteroids and other non-selective T lymphocyte-suppressive agents used in ...
Aisling M. Flinn, Andrew R. Gennery
doaj +1 more source
Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?
This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes +3 more
wiley +1 more source
The role of histone modifications in transcription regulation upon DNA damage
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
The newfound relationship between extrachromosomal DNAs and excised signal circles
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
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 +17 more
doaj +1 more source

