ArticleBlood2011
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.
Article in Blood, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
75 citing papers in PubMed, 136 citations in OpenAlex.
- Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.Haematologica · 2019Trial
- Bayesian Genome-Wide Association Study of Feed Efficiency Traits in Pigs.Animals : an open access journal from MDPI · 2026Article
- Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders.iScience · 2026Article
- Activation-induced cytidine deaminase (AID) suppresses the activity of HBV EnhII/CP by downregulating FANCE expression.Virus genes · 2026Article
- β-Human Chorionic Gonadotropin-Secreting Giant Cell Tumor of Bone in the Mandible: Case Report and Comprehensive Literature Review.Head and neck pathology · 2026Review
- Clinical, cytogenetic, and molecular insights from 32 years of the Portuguese Fanconi anemia cohort.Genetics in medicine open · 2026Article
- Evaluating the Effectiveness of Early Genetic Screening for Fanconi Anemia in High-Risk Pediatric Populations.Molecular genetics & genomic medicine · 2026Article
- Tracking Cytopenias inmedRxiv : the preprint server for health sciences · 2025Article
- Article
- Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.American journal of hematology · 2025Observational
- Efficient site-specific integration of large genes in mammalian cells via continuously evolved recombinases and prime editing.Nature biomedical engineering · 2025Article
- Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand.Genetics in medicine open · 2025Article
- DNA phenotyping and mapping intragenic deletion mutations in Fanconi anemia: Patterns and diagnostic inferences.Journal, genetic engineering & biotechnology · 2024Article
- Fanconi Anemia: Challenges in Diagnosis and Management-A Case Series Report.Clinical case reports · 2024Article
- FANCA facilitates G1/S cell cycle advancement, proliferation, migration and invasion in gastric cancer.Acta biochimica et biophysica Sinica · 2024Article
- Liver abnormalities are frequent and persistent in patients with Fanconi anemia.Blood advances · 2024Article
- Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis.Journal of medical genetics · 2023Article
- Effects of Deacetylase Inhibition on the Activation of the Antioxidant Response and Aerobic Metabolism in Cellular Models of Fanconi Anemia.Antioxidants (Basel, Switzerland) · 2023Article
- Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.Haematologica · 2023Article
- Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study.Frontiers in neurology · 2023Article
15 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
32 authors at 20 institutions in 5 countries.
Funding
Abstract
Fanconi anemia is characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. To investigate the origin, functional role, and clinical impact of FANCA mutations, we determined a FANCA mutational spectrum with 130 pathogenic alleles. Some of these mutations were further characterized for their distribution in populations, mode of emergence, or functional consequences at cellular and clinical level. The world most frequent FANCA mutation is not the result of a mutational "hot-spot" but results from worldwide dissemination of an ancestral Indo-European mutation. We provide molecular evidence that total absence of FANCA in humans does not reduce embryonic viability, as the observed frequency of mutation carriers in the Gypsy population equals the expected by Hardy-Weinberg equilibrium. We also prove that long distance Alu-Alu recombination can cause Fanconi anemia by originating large interstitial deletions involving FANCA and 2 adjacent genes. Finally, we show that all missense mutations studied lead to an altered FANCA protein that is unable to relocate to the nucleus and activate the FA/BRCA pathway. This may explain the observed lack of correlation between type of FANCA mutation and cellular phenotype or clinical severity in terms of age of onset of hematologic disease or number of malformations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.