Beyond DNA repair and chromosome instability—Fanconi anaemia as a cellular senescence-associated syndrome
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DOI: 10.1038/s41418-021-00764-5
Abstract: Fanconi anaemia (FA) is the most frequent inherited bone marrow failure syndrome, due to mutations in genes encoding proteins involved in replication fork protection, DNA interstrand crosslink repair and replication rescue through inducing double-strand break… read more here.
Keywords: dna repair; repair chromosome; fanconi anaemia; senescence ... See more keywords
Transplant results in adults with Fanconi anaemia
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DOI: 10.1111/bjh.15006
Abstract: The outcomes of adult patients transplanted for Fanconi anaemia (FA) have not been well described. We retrospectively analysed 199 adult patients with FA transplanted between 1991 and 2014. Patients were a median of 16 years… read more here.
Keywords: transplant results; identical sibling; fanconi anaemia; results adults ... See more keywords
Irradiation‐free, T‐cell replete haploidentical transplant for Fanconi anaemia, weighing the benefits
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Haematology"
DOI: 10.1111/bjh.18446
Abstract: The optimal haploidentical haematopoietic cell transplant approach for Fanconi anaemia (FA) patients is not well established, given the rarity of the disease, the increased sensitivity to DNA‐damaging agents and the high risk of severe graft‐versus‐host… read more here.
Keywords: irradiation; cell; fanconi anaemia; replete haploidentical ... See more keywords
Phenotypes of adults with Fanconi anaemia
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DOI: 10.1111/bjh.18603
Abstract: The long‐term outcomes of adults with Fanconi anaemia (FA) have improved with advances in haematopoietic stem cell transplantation (HSCT) and more detailed follow‐up and screening guidelines. The phenotype of those who survive to adulthood may… read more here.
Keywords: hsct; fanconi anaemia; adulthood; adults fanconi ... See more keywords
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis
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DOI: 10.1136/jmg-2022-108714
Abstract: Background Fanconi anaemia (FA) is a rare inherited bone marrow failure disease caused by germline pathogenic variants in any of the 22 genes involved in the FA-DNA interstrand crosslink (ICL) repair pathway. Accurate laboratory investigations… read more here.
Keywords: laboratory; fanconi anaemia; diagnosis; analysis ... See more keywords
A case report on Fanconi anaemia in pregnancy
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DOI: 10.1177/1753495x211011906
Abstract: Fanconi anaemia is a rare autosomal recessive chromosomal instability syndrome characterised by progressive bone marrow failure, skeletal defects, reduced fertility and increased susceptibility to ... read more here.
Keywords: fanconi anaemia; medicine; report fanconi; case report ... See more keywords
Fanconi Anaemia, Childhood Cancer and the BRCA Genes
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DOI: 10.3390/genes12101520
Abstract: Fanconi anaemia (FA) is an inherited chromosomal instability disorder characterised by congenital and developmental abnormalities and a strong cancer predisposition. In less than 5% of cases FA can be caused by bi-allelic pathogenic variants (PGVs)… read more here.
Keywords: pgvs; fanconi anaemia; cancer; brca ... See more keywords
Regulation of Replication Stress in Alternative Lengthening of Telomeres by Fanconi Anaemia Protein
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DOI: 10.3390/genes13020180
Abstract: Fanconi anaemia (FA)-related proteins function in interstrand crosslink (ICL) repair pathways and multiple damage repair pathways. Recent studies have found that FA proteins are involved in the regulation of replication stress (RS) in alternative lengthening… read more here.
Keywords: regulation replication; stress; replication stress; fanconi anaemia ... See more keywords