ArticleJournal of medical genetics2007
A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 56 citations in OpenAlex.
- Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia.Nature medicine · 2019Trial
- Clinical, cytogenetic, and molecular insights from 32 years of the Portuguese Fanconi anemia cohort.Genetics in medicine open · 2026Article
- Lentiviral-mediated panErbB CAR-T cell therapy against head and neck squamous cell carcinomas for patients with Fanconi anemia.Molecular therapy. Oncology · 2025Article
- Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.American journal of hematology · 2025Observational
- Upregulation of NKG2D ligands impairs hematopoietic stem cell function in Fanconi anemia.The Journal of clinical investigation · 2022Article
- Precise somatic genome editing for treatment of inborn errors of immunity.Frontiers in immunology · 2022Review
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- TALEN mediated gene editing in a mouse model of Fanconi anemia.Scientific reports · 2020Article
- Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.Haematologica · 2018Article
- Therapeutic gene editing in CD34EMBO molecular medicine · 2017Article
- AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia.Human molecular genetics · 2015Article
- Loss of Faap20 Causes Hematopoietic Stem and Progenitor Cell Depletion in Mice Under Genotoxic Stress.Stem cells (Dayton, Ohio) · 2015Article
- Targeted gene therapy and cell reprogramming in Fanconi anemia.EMBO molecular medicine · 2014Article
- Inhibitory effects of marine-derived DNA-binding anti-tumour tetrahydroisoquinolines on the Fanconi anaemia pathway.British journal of pharmacology · 2013Article
- Fanconi anemia signaling network regulates the spindle assembly checkpoint.The Journal of clinical investigation · 2013Article
- Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.American journal of human genetics · 2013Article
- Dysfunctional telomeres in primary cells from Fanconi anemia FANCD2 patients.Genome integrity · 2012Article
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- Bcr/Abl interferes with the Fanconi anemia/BRCA pathway: implications in the chromosomal instability of chronic myeloid leukemia cells.PloS one · 2010Article
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Authors and funding
29 authors at 3 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFanconi anaemia is a heterogeneous genetic disease, where 12 complementation groups have been already described. Identifying the complementation group in patients with Fanconi anaemia constitutes a direct procedure to confirm the diagnosis of the disease and is required for the recruitment of these patients in gene therapy trials.
objectiveTo determine the subtype of Fanconi anaemia patients in Spain, a Mediterranean country with a relatively high population (23%) of Fanconi anaemia patients belonging to the gypsy race.
methodsMost patients could be subtyped by retroviral complementation approaches in peripheral blood T cells, although some mosaic patients were subtyped in cultured skin fibroblasts. Other approaches, mainly based on western blot analysis and generation of nuclear RAD51 and FANCJ foci, were required for the subtyping of a minor number of patients. RESULTS AND
conclusionsFrom a total of 125 patients included in the Registry of Fanconi Anaemia, samples from 102 patients were available for subtyping analyses. In 89 cases the subtype could be determined and in 8 cases exclusions of common complementation groups were made. Compared with other international studies, a skewed distribution of complementation groups was observed in Spain, where 80% of the families belonged to the Fanconi anaemia group A (FA-A) complementation group. The high proportion of gypsy patients, all of them FA-A, and the absence of patients with FA-C account for this characteristic distribution of complementation groups.
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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.