Fanconi anemia

Ahammad, Forrukh; Rupa, Habiba Sultana; Rashid, Akm Mamunur; Rasul, Choudhury Habibur

doi:10.3329/bmjk.v50i1-2.35844

Cited by 1 publication

(2 citation statements)

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“…The limitations of our research were as follows: (1) As no experiments were undertaken, our results cannot be validated; there is therefore a need for clinical molecular experiments to con rm the identi ed genes and pathways in FA. (2) The data used in this research came from publicly available databases, therefore we could not assess the quality of the data, which might have led to bias; (3) There were only a few bioinformatic tools used in this research; future research should include more bioinformatic tools and more FA datasets should be used to identify further KEGG pathways.…”

Section: Discussionmentioning

confidence: 97%

“…Fanconi anemia (FA) is a rare, autosomal recessive inherited disease of the circulatory system [1]. It is characterized by premature aging, serious failure of bone marrow development, and a high susceptibility to various tumors [2,3]; among them, the probability of FA patients developing acute myeloid leukemia is 700-fold that of other populations [4].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Identification of Immune Infiltration, Differentially Expressed Genes, and Signaling Pathways in Fanconi Anemia Based on Bioinformatics Analysis

Shen

Shi

Chen

et al. 2022

Preprint

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Background and Objective: Fanconi anemia (FA) patients have a reduced ability to form blood cells, accompanied by multiple congenital malformations, mental retardation, solid tumors, and other symptoms. However, the molecular mechanism that causes FA is unclear, and few studies have addressed the regulatory mechanism of immune infiltration in FA. Here, we aimed to identify differentially expressed genes (DEGs), pathways, and immune infiltration involved in FA using integrated bioinformatics analysis and molecular mechanisms. Methods: The GEO gene chip database was searched for FA low density bone marrow tissue, and the content and proportion of 22 types of immune cells in the FA group and the normal group were analyzed using CIBERSORT. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis of FA differentially expressed genes (DEGs) using R language and related package programs was also performed.Results: The expression levels of T cells regulatory (Tregs), M2 macrophages, T cells CD8, dendritic cells resting, and T cells CD4 naïve in FA were higher than in the normal group. Furthermore, the expression levels of naïve B cells, monocytes, and resting mast cells in FA were lower than in the normal group. GO analysis of FA differential genes showed that “neutrophil degranulation,” “neutrophil activation,” and “neutrophil activation involved in immune response,” were most frequently enriched among biological processes, with “specific granule,” “tertiary granule,” “tertiary granule lumen” among cellular components, and “carbohydrate binding” among molecular functions. For the KEGG analysis, “Asthma” was most often enriched.Conclusion: This study obtained useful data related to immune infiltration, DEGs, and gene pathways of FA, and provides new evidence for immunotherapy and clinical assessment of FA patients. These results are potentially a useful reference for subsequent related scientific research.

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Section: Discussionmentioning

confidence: 97%