about
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemiaCoordinated action of the Fanconi anemia and ataxia telangiectasia pathways in response to oxidative damageHistone H2AX and Fanconi anemia FANCD2 function in the same pathway to maintain chromosome stabilityHematopoietic dysfunction in a mouse model for Fanconi anemia group D1Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells.Clusters of transcription-coupled repair in the human genome.Bcr/Abl interferes with the Fanconi anemia/BRCA pathway: implications in the chromosomal instability of chronic myeloid leukemia cells.Exploring the link between MORF4L1 and risk of breast cancer.Molecular mechanisms of micronucleus, nucleoplasmic bridge and nuclear bud formation in mammalian and human cells.On the role of FAN1 in Fanconi anemia.Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.Fanconi anemia protein FANCD2 inhibits TRF1 polyADP-ribosylation through tankyrase1-dependent mannerRole of the Met(287)Thr polymorphism in the AS3MT gene on the metabolic arsenic profile.Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.Modelling Fanconi anemia pathogenesis and therapeutics using integration-free patient-derived iPSCsThe Fanconi anaemia genome stability and tumour suppressor network.Dyslipidemia and chronic inflammation markers are correlated with telomere length shortening in Cushing's syndrome.Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.Epigenetic Alterations in Fanconi Anaemia: Role in Pathophysiology and Therapeutic Potential.Clinical and molecular characteristics of squamous cell carcinomas from Fanconi anemia patients.Telomere dysfunction in genome instability syndromes.Analysis of loss of inactive X chromosomes in interphase cells.FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factorDisruption of the Fanconi anemia/BRCA pathway in sporadic cancer.Dysfunctional telomeres in primary cells from Fanconi anemia FANCD2 patientsA comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network.Epidemiology of rare anaemias in Europe.Telomeres and endocrine dysfunction of the adrenal and GH/IGF-1 axes.Equal induction and persistence of chromosome aberrations involving chromosomes 1, 4 and 10 in thyroid cancer patients treated with radioactive iodine.Equal induction and persistence of chromosome aberrations involving chromosomes with heterogeneous lengths and gene densities.Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics.Engraftment and in vivo proliferation advantage of gene corrected mobilized CD34(+) cells from Fanconi anemia patients.Activation of the Fanconi anemia/BRCA pathway at low doses of ionization radiation.Glutathione S-transferase polymorphisms in thyroid cancer patients.FANCD2 depletion sensitizes cancer cells repopulation ability in vitro.Mutagenic stress modulates the dynamics of CTG repeat instability associated with myotonic dystrophy type 1.Quantitative PCR analysis reveals a high incidence of large intragenic deletions in the FANCA gene in Spanish Fanconi anemia patients.Intra- and inter-laboratory variation in the scoring of micronuclei and nucleoplasmic bridges in binucleated human lymphocytes. Results of an international slide-scoring exercise by the HUMN project.Position effect of translocations involving the inactive X chromosome: physical linkage to XIC/XIST does not lead to long-range de novo inactivation in human differentiated cells.Savior siblings and Fanconi anemia: analysis of success rates from the family's perspective.
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description
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Jordi Surrallés
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Jordi Surrallés
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Jordi Surrallés
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Jordi Surrallés
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Jordi Surrallés
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Jordi Surrallés
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Jordi Surrallés
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Jordi Surrallés
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Jordi Surrallés
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Jordi Surrallés
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Jordi Surrallés
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Jordi Surrallés
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Jordi Surrallés
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P214
P106
P21
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P31
P496
0000-0002-4041-7519
P735
P7859
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