A anemia de Fanconi (AF) é um distúrbio hereditário de reparo do DNA caracterizado por pancitopenia progressiva com insuficiência da medula óssea, malformações congênitas variáveis e predisposição para desenvolver tumores hematológicos ou sólidos.
Introdução
O que você precisa saber de cara
A anemia de Fanconi é uma condição caracterizada por falha da medula óssea, diferenças físicas, problemas de órgãos e risco aumentado de certos cânceres.
Aproximadamente 90 por cento das pessoas com anemia de Fanconi têm função medular óssea comprometida. A medula óssea produz principalmente novas células sanguíneas. Estas incluem glóbulos vermelhos, que transportam oxigênio para os tecidos do corpo; glóbulos brancos, que combatem infecções; e plaquetas, que são necessárias para a coagulação sanguínea normal. Em pessoas com anemia de Fanconi, a função medular óssea comprometida leva a uma diminuição na produção de todas as células sanguíneas (anemia aplástica). Os indivíduos afetados experimentam cansaço extremo (fadiga) devido ao baixo número de glóbulos vermelhos (anemia), infecções frequentes devido ao baixo número de glóbulos brancos (neutropenia) e problemas de coagulação devido ao baixo número de plaquetas (trombocitopenia). Pessoas com anemia de Fanconi também podem desenvolver síndrome mielodisplásica, uma condição na qual as células sanguíneas imaturas não se desenvolvem normalmente.
Pessoas com anemia de Fanconi frequentemente apresentam problemas de crescimento antes ou depois do nascimento, que muitas vezes resultam em baixa estatura. Os indivíduos afetados também podem ter coloração irregular da pele, como pele incomumente clara (hipopigmentação) ou manchas café-au-lait, que são manchas planas na pele mais escuras que a área circundante. Pessoas com anemia de Fanconi podem ter problemas esqueléticos que frequentemente incluem polegares ou antebraços malformados ou tamanho de cabeça incomumente pequeno (microcefalia).
Problemas nos tecidos produtores de hormônios (endócrinos) são comuns em pessoas com anemia de Fanconi, incluindo níveis anormalmente baixos de hormônios tireoidianos (hipotireoidismo) e níveis elevados de glicose no sangue (hiperglicemia). Indivíduos com anemia de Fanconi também podem apresentar anomalias oculares, como olhos pequenos ou com forma anormal, ou rins malformados ou ausentes e outros defeitos do trato urinário. Problemas menos frequentes incluem anomalias gastrointestinais, defeitos cardíacos, anomalias cerebrais e perda auditiva. Pessoas com anemia de Fanconi podem ter genitália anormal ou malformações do sistema reprodutor, o que pode resultar em dificuldade para ter filhos biológicos (infertilidade).
Indivíduos com anemia de Fanconi têm risco aumentado de desenvolver um câncer das células formadoras de sangue chamado leucemia mieloide aguda (LMA). Eles também correm risco de desenvolver tumores no fígado, no sistema gastrointestinal, no trato genital ou na cabeça e pescoço (conhecido como carcinoma de células escamosas de cabeça e pescoço). A probabilidade de uma pessoa com anemia de Fanconi desenvolver um desses cânceres está entre 10 e 30 por cento.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoA anemia de Fanconi (AF) é um distúrbio hereditário de reparo do DNA caracterizado por pancitopenia progressiva com insuficiência da medula óssea, malformações congênitas variáveis e predisposição para desenvolver tumores hematológicos ou sólidos.
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1/5kIncomum
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 97 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 251 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
23 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive, X-linked recessive.
Curadoria gene-doença
fontes oficiaisBreast cancer
A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
Fanconi anemia, complementation group X
A form of Fanconi anemia, a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. FANCX is an autosomal recessive form characterized by multiple pregnancy losses and offspring presenting with severe developmental and hematologic abnormalities leading to death in utero or in early life.
Fanconi anemia complementation group L
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Fanconi anemia complementation group B
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some severe FANCB cases manifest features of VACTERL syndrome with hydrocephalus.
Fanconi anemia complementation group E
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Fanconi anemia complementation group D2
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Fanconi anemia, complementation group W
A form of Fanconi anemia, a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Xeroderma pigmentosum complementation group F
An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype.
Fanconi anemia complementation group P
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some individuals affected by Fanconi anemia of complementation group P have skeletal anomalies.
Fanconi anemia complementation group F
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Fanconi anemia complementation group O
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Fanconi anemia, complementation group A
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Breast cancer
A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
Fanconi anemia complementation group C
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Breast cancer
A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
Fanconi anemia complementation group G
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Fanconi anemia, complementation group V
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Breast cancer
A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
Fanconi anemia, complementation group U
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Breast cancer
A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
Spermatogenic failure 28
An autosomal recessive infertility disorder caused by spermatogenesis defects that result in oligoasthenospermia or non-obstructive azoospermia.
Fanconi anemia complementation group T
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Fanconi anemia complementation group I
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Medicamentos e terapias
Mecanismo: DNA polymerase (alpha/delta/epsilon) inhibitor
Mecanismo: Mitochondrial complex I (NADH dehydrogenase) inhibitor
Variantes genéticas (ClinVar)
5.436 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 28.126 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
41 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Anemia de Fanconi
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94 ensaios clínicos encontrados, 21 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 2.003
Metabolite-induced DNA damage drives stochastic stem cell loss and clonal hematopoiesis.
DNA damage and mutations in hematopoietic stem cells (HSCs) enable clonal hematopoiesis (CH). Such damage occurs across a lifetime, but its origins remain unknown. Here, we demonstrate that endogenous formaldehyde causes HSC attrition and subsequently CH. We generated conditional mouse models lacking formaldehyde detoxification and Fanconi anemia (FA) DNA repair in blood. Formaldehyde protection was crucial for embryonic HSC emergence and throughout life. Despite severe deficiencies in HSCs, these mice produced blood for many months. To determine what enables this, we employed an unbiased method for detecting clones, which exploits somatic variant data. This revealed initial polyclonal hematopoiesis that diminishes to monoclonal hematopoiesis, devoid of known genetic selection. Furthermore, in FA children, we find the same transition to monoclonal hematopoiesis. Therefore, DNA damage-induced attrition down to the last functional cell can be a driving force for CH, representing an alternative route to CH other than purely by fitness-enhancing selection.
Deficiencies in the Fanconi anemia or homologous recombination pathway enhance the antitumor effects of the hypoxia-activated prodrug CP-506.
The novel hypoxia-activated prodrug CP-506 selectively targets the hypoxic, treatment-resistant tumor microenvironment. Given the alkylating effector metabolites of CP-506, we hypothesized that defects in interstrand crosslink (ICL) and double-strand break repair influence treatment efficacy. In vitro and in vivo isogenic cancer models proficient or deficient in the Fanconi anemia (FA), homologous recombination (HR), or non-homologous end joining (NHEJ) pathway were used to assess CP-506-induced cytotoxicity and DNA damage. Viability and clonogenic assays demonstrated enhanced sensitivity to CP-506 in FA- or HR-deficient cells compared to parental cells, which was confirmed by spheroid growth inhibition studies. In vivo, CP-506 caused greater enhancement ratios in FA- and HR-deficient xenografts versus parental controls (p < 0.0001) but not in NHEJ-deficient xenografts (p = 0.18). Mechanistically, CP-506 increased γH2AX expression (1.9- to 9.3-fold) in FA- and HR-deficient cells and xenografts, whereas NHEJ-deficient models showed a 0.5-fold reduction. Alkaline comet assays confirmed CP-506-induced ICLs and DNA strand breaks but did not explain the differential therapeutic responses among isogenic cancer cells. These data indicate that deficiencies within FA or HR, but not NHEJ or nucleotide excision repair (NER), determine CP-506 sensitivity, consistent with a synthetic-lethal interaction. Therefore, tumor hypoxia and DNA repair status are key biomarkers for stratifying patients in CP-506 clinical trials.
Towards evolutionary guided precision medicine of acute myeloid leukemia and Fanconi anemia associated bone marrow failure.
Carcinogenesis and acquisition of multidrug resistance within established cancers are both multistep evolutionary processes in which stem cells play a role. This perspective will briefly review two corresponding theoretical constructs under development. Efficiency of carcinogenesis (EOC) considers multistep carcinogenesis and predicts the effect of differing dynamics on the efficiency of generating a transformed founder cell. EOC has been applied to evaluation of the role of genetic instability in carcinogenesis. Dynamic precision medicine (DPM) is a method for providing personalized treatment sequences for cancer while explicitly considering intracancer subclonal heterogeneity and evolutionary dynamics (growth and evolutionary rates). It adapts therapy frequently and proactively by anticipating the kinetics of multidrug resistance prior to its detection, and prioritizing its prevention. Simulations suggest potential to substantially increase survival and cure rates across a broad range of clinical presentations. Both of these problems implicate very small subclones within stem cell and/or differentiated compartments, and evolution may occur over months to years. We describe novel experimental technologies for quantifying longitudinal dynamics of very large numbers of cells for prolonged periods, allowing detection and tracking of rare events and their evolution over time. We further highlight two potential applications. In Fanconi anemia, optimal treatment sequences for minimizing bone marrow failure while not increasing the risk of leukemia may be designed using EOC and DPM and tested in laboratory models. In refractory acute myeloid leukemia, high throughput molecular characterization and drug sensitivity screening of subclones is showing clinical promise, and may be further optimized with DPM.
Beyond readthrough: ataluren restores mitochondrial function and reduces oxidative stress in FANCA-mutated cells via mTOR-DRP1 modulation.
Fanconi anemia (FA) is a rare inherited bone marrow failure syndrome characterized by genomic instability, mitochondrial dysfunction, and oxidative stress. While the therapeutic potential of ataluren, a translational readthrough-inducing drug, has been investigated in FA cells carrying nonsense mutations, its broader metabolic impact remains unclear. Here, we demonstrate that ataluren (tested at 2.5, 5, and 10 μM) modulates cellular energy metabolism and redox homeostasis in FA lymphoblasts harboring either nonsense or missense mutations in the FANCA gene. At low doses (2.5 μM for 72 h), ataluren improved the ATP/AMP ratio, enhanced oxidative phosphorylation efficiency, and reduced lipid peroxidation and oxidative DNA damage. These effects were independent of mutation type and were not associated with compensatory glycolysis, as lactate dehydrogenase activity remained unchanged. Strikingly, ataluren restored the P/O ratio under pyruvate/malate-driven respiration to near-normal values, indicating improved coupling between oxygen consumption and ATP synthesis. Mechanistically, ataluren reduced DRP1 protein levels and attenuated mTOR-S6 signaling, suggesting that mitochondrial dynamics and bioenergetic efficiency are modulated via the mTOR-DRP1 axis. Additionally, ataluren lowered IMPDH activity, contributing to reduced cell proliferation and DNA damage without impairing cellular energy status. Notably, these beneficial effects persisted under immune stimulation, where ataluren mitigated the metabolic and oxidative burden imposed by lymphocyte activation. Our findings unveil a pleiotropic role for ataluren that extends beyond its canonical readthrough activity, highlighting its potential as a metabolic modulator for FA and possibly other DNA repair-deficient disorders.
Differential genetic analysis of ectrodactyly in a Fanconi anemia pedigree with FANCA mutations.
Fanconi anemia (FA; OMIM: 227650) is a rare genetic disorder characterized by bone marrow failure, congenital anomalies, and cancer predisposition. While FANCA mutations account for most FA cases, phenotypic overlap with other disorders complicates diagnosis. This study analyzes molecular diagnostic pathways for FANCA-related FA and establishes a hereditary differential diagnosis for ectrodactyly. A Chinese FA family clinical phenotype was collected. The proband and father underwent whole-genome sequencing. Copy number variations (CNVs) in FANCA were assessed by genomic qPCR. Functional characterization of the EHMT1 variant included minigene splicing assays, RT-qPCR and Western blotting on peripheral blood samples. The proband showed pancytopenia and bone marrow hypoplasia, suggesting aplastic anemia. Sequencing analysis identified two FANCA mutations, NM_000135.4: c.154C>T and NC_000016.9: g.89865477_89895212del, which caused partial protein deletion. Subsequent pedigree analysis revealed that the affected individuals of the proband's paternal lineage, who exhibited ectrodactyly, were heterozygous for the EHMT1 c.2382 + 1750G>A variant (NM 024757.5) and showed significantly reduced EHMT1 mRNA expression, demonstrating complete genotype-phenotype co-segregation. Furthermore, Western blot revealed reduced H3K9me2 and decreased intensity of a ∼100 kDa EHMT1-reactive band in the proband's father. The newly identified g.89865477_89895212del mutation enriches the FANCA gene mutant spectrum. Additionally, the EHMT1 c.2382 + 1750G>A variant co-segregates with ectrodactyly and is accompanied by significantly reduced EHMT1 mRNA expression.
Publicações recentes
Efficacy and safety of gene therapy in pediatric patients with Fanconi anemia: a systematic review.
PRMT5 inhibition impairs Fanconi Anemia pathway-mediated homologous recombination and enhances the antitumor efficacy of Temozolomide in glioblastoma.
Allogeneic CD56(+) cell-based immunotherapy in a patient with Fanconi anemia developing acute myeloid leukemia.
The landscape and regulatory potential of eccDNAs in mammalian preimplantation embryos.
Functional Germline DNA Repair Mutations as Predictors of Acute Radiodermatitis in Breast Cancer.
📚 EuropePMC2.252 artigos no totalmostrando 198
Tumor Treating Fields (TTFields), and their concomitant application with FOLFOX, are effective for the treatment of gastric cancer cells.
Frontiers in oncologyMetabolite-induced DNA damage drives stochastic stem cell loss and clonal hematopoiesis.
Cell stem cellDeficiencies in the Fanconi anemia or homologous recombination pathway enhance the antitumor effects of the hypoxia-activated prodrug CP-506.
Molecular therapy. Oncology[Mutation characteristics and prognosis of patients with Fanconi anemia signaling pathway gene mutation myeloproliferative neoplasm].
Zhonghua yi xue za zhiExpanding genetic landscape of inherited bone marrow failure syndromes: Insights from the Canadian Inherited Marrow Failure Registry (CIMFR) (2001-2023).
British journal of haematologyThe tight bond between Fanconi anemia and aging.
Frontiers in agingTowards evolutionary guided precision medicine of acute myeloid leukemia and Fanconi anemia associated bone marrow failure.
Stem cells translational medicineInfective endocarditis in an adult male patient with tetralogy of Fallot physiology secondary to double outlet right ventricle presenting with stroke: a complex presentation with multiorgan dysfunction-a case report.
Journal of medical case reportsBeyond readthrough: ataluren restores mitochondrial function and reduces oxidative stress in FANCA-mutated cells via mTOR-DRP1 modulation.
Cell death discoveryStatement of Retraction: A novel role for fanconi anemia (FA) pathway effector protein FANCD2 in cell cycle progression of untransformed primary human cells.
Cell cycle (Georgetown, Tex.)Insights and modulation of RNA polymerases-dependentR-loop and dsRNA inFanconi anemia hematopoietic stem cells.
JCI insightBRIP1-mediated RINT1 acetylation and NF-κB activation promote DNA repair and immunosuppressive microenvironment in lung adenocarcinoma.
Cancer lettersDifferential genetic analysis of ectrodactyly in a Fanconi anemia pedigree with FANCA mutations.
MedScienceMulti-omics and machine learning-based profiling of severity signatures in Mycoplasma pneumoniae infection in children.
iSciencePossible link between the apparently pathogenic FANCI variant and beneficial effects in sports performance.
Frontiers in geneticsIdentification of shared gene signature between lung cancer and postoperative delirium by transcriptome data analysis.
MedicineA custom phenotypic profile for Fanconi anemia: Addressing gaps in existing disease annotations.
medRxiv : the preprint server for health sciencesRAD51C-XRCC3 complex regulates FANCM-mediated R-loop resolution to safeguard genome integrity.
Science advancesBRCA1/2, PALB2 mutations and first-line CDK4/6 inhibitor efficacy in HR+ metastatic breast cancer.
Breast (Edinburgh, Scotland)Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community.
Prenatal diagnosisDiscovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.
United European gastroenterology journalGenetic Syndromes Associated With Congenital Upper Limb Differences.
The Journal of hand surgeryTargeting FANCD2 to overcome enzalutamide resistance in prostate cancer.
Cancer & metabolismExpression of Concern: Rad18 E3 ubiquitin ligase activity mediates Fanconi anemia pathway activation and cell survival following DNA Topoisomerase 1 inhibition.
Cell cycle (Georgetown, Tex.)Ultrarare Variants in DNA Damage Repair and Mitochondrial Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome and Acute Behavioral Regression in Neurodevelopmental Disorders.
Developmental neuroscienceFANCD2 restrains fork progression and prevents fragility at early origins upon re-replication.
Nature communications[Homologous recombination repair gene variants in hormone-sensitive prostate cancer].
Zhonghua bing li xue za zhi = Chinese journal of pathologyPatients with Fanconi Anemia Have an Increased Incidence of Diabetes Mellitus After Allogeneic Stem Cell Transplantation.
Hematology/oncology and stem cell therapyInsights into the host response to 'dormant' Mycobacterium tuberculosis utilizing 'Vitamin C-induced dormant Mtb' THP-1 cell infection model.
BMC genomicsFanconi anaemia as a human model of accelerated epigenetic and immune ageing.
Ageing research reviewsHematologic malignancies in pediatric patients with RUNX1-Familial Platelet Disorder with Associated Myeloid Malignancy.
Blood advancesTBCRC 048 (Olaparib Expanded) Expansion Cohorts: Phase II Study of Olaparib Monotherapy for Patients With Metastatic Breast Cancer With Germline Mutations in PALB2 or Somatic Mutations in BRCA1 or BRCA2.
Journal of clinical oncology : official journal of the American Society of Clinical OncologyClinical and Prognostic Relevance of BRIP1 Expression in Colorectal Cancer: Evidence from TCGA and Korean Cohorts.
Medicina (Kaunas, Lithuania)The Genetic and Molecular Analyses of Rare Candidate Germline BRIP1/FANCJ Variants Implicated in Hereditary Breast and Ovarian Cancers.
International journal of molecular sciencesSubsequent Neoplasms After Umbilical Cord Blood Transplantation in the Japanese and European Populations.
Transplantation and cellular therapyA Rare Case of Co-occurring Fanconi Anemia and Primary Ciliary Dyskinesia.
Turkish journal of haematology : official journal of Turkish Society of HaematologyAdvances in stem cell transplantation for Fanconi anemia.
Expert review of hematologyActivation of GLP-1R ameliorates microglial pyroptosis after spinal cord injury by restoring FANCC expression.
Brain, behavior, and immunityGenotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy.
Kidney internationalFanconi anemia complementation group C gene (FANCC) association with hereditary and sporadic renal tumors.
The oncologistPrediction of myeloid malignant cells in Fanconi anemia using machine learning.
PloS oneCharacterizing the molecular and clinical implications of NRG1 fusions in NSCLC through integrated RNA and DNA sequencing analysis.
European journal of medical researchSite-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.
Nature communicationsPathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma.
Pediatric blood & cancerClinical and genetic spectrum of Fanconi anemia in Australia and New Zealand.
Genetics in medicine openHuman cytomegalovirus regulates host DNA repair machinery for viral genome integrity.
Nucleic acids researchThe SMC5/SMC6 complex is critical for resolving R-loop-induced transcription-replication conflicts.
Nucleic acids researchFANCD2 promotes wound healing through DNMT1.
Histochemistry and cell biologyTargeted CRISPR knockout screening identifies known and novel chemogenomic interactions between DNA damaging agents and DNA repair genes.
NAR cancerEvaluating the Effectiveness of Early Genetic Screening for Fanconi Anemia in High-Risk Pediatric Populations.
Molecular genetics & genomic medicineGenomic comparisons and the adaptive basis of brain size plasticity and chromosomal instability in the Eurasian common shrew.
Molecular biology and evolutionThe FANCD2-FANCI heterodimer coordinates chromatin openness and cell cycle progression throughout DNA double-strand break repair.
Cell reportsArtificial Intelligence-Assisted Automated DNA Ploidy Analysis of Oral Lesions From Fanconi Anemia Patients With DNA Karyometry.
Frontiers in bioscience (Elite edition)BLM and FANCJ role in the response to G-quadruplex-dependent telomeric replicative stress.
Communications biologyCharacterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield.
Human mutationBetulinic Acid Suppresses UBE2T Expression via MAPK/ERK Inhibition to Block FANCI and FANCD2 Monoubiquitination in Glioblastoma.
Journal of cellular and molecular medicineOral squamous cell carcinoma risk and magnitude of association in inherited cancer predisposition syndromes: evidence from a large real-world cohort.
Oral surgery, oral medicine, oral pathology and oral radiologyMolecular and immune determinants of response in locally advanced deficient DNA mismatch repair/microsatellite instability-high gastric or gastroesophageal junction adenocarcinoma treated with neoadjuvant chemoimmunotherapy.
Cell communication and signaling : CCSComplex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.
International journal of molecular sciencesTracking Cytopenias in FANCA-deficient Fanconi Anemia.
medRxiv : the preprint server for health sciencesGenetic insights and diagnostic challenges in inherited bone marrow failure syndromes: a comprehensive study from a low middle-income country.
Expert review of hematologyPanERBB CAR T-cells: Shifting gears toward a cure for fanconi anemia head/neck cancers.
Molecular therapy. OncologyA Population-Based Assessment of Cancer Risk in Children With VACTERL.
American journal of medical genetics. Part APan-cancer atlas analysis of FANCB and its potential mechanism in cholangiocarcinoma.
Discover oncologyDiagnosis and Management of Fanconi Anemia.
Journal of evidence-based medicineImmunosuppression-Free Kidney Transplantation after Haploidentical Hematopoietic Stem Cell Transplantation in Fanconi Anemia.
Kidney international reportsGinsenoside Rh2 Suppresses the Fanconi Anemia Pathway by Inhibiting NF-κB-Mediated FANCL Transcription in Bladder Cancer.
Dose-response : a publication of International Hormesis SocietyPatient-derived xenograft models of Fanconi anemia-associated head and neck cancer identify personalized therapeutic strategies.
The Journal of clinical investigationMechanisms of Acetaldehyde-Induced Organ Injury via Impairment of Vascular Endothelial Cells.
Vascular health and risk managementA nuclear-targeted activity-based sensing probe for ratiometric imaging of formaldehyde reveals endogenous epigenetic contributors to the nuclear formaldehyde pool.
Chemical sciencePolygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions.
Genetics in medicine : official journal of the American College of Medical GeneticsMolecular biomarkers of sintilimab plus lenvatinib in hepatitis-B-virus-associated hepatocellular carcinoma.
World journal of hepatologyMicroporous structures on mineralized collagen mediate bone restoration by promoting nucleolin secretion to induce macrophage M2 polarization.
Regenerative biomaterialsTSN Disrupts Fanconi Anemia Pathway Activation Through JAK/STAT1-Mediated Transcriptional Repression of FA Core Subunits in Bladder Cancer.
Dose-response : a publication of International Hormesis SocietyRecent advances in understanding the molecular mechanisms of SLX4 recruitment in the replication stress response.
DNA repairDefective Microhomology-Mediated End-joining in SMARCB1-Deficient Tumors.
bioRxiv : the preprint server for biologyManaging acute myeloid leukemia in the context of sickle cell anemia and suspected Fanconi anemia in Tanzania: a case report.
Journal of medical case reportsMetabolic reprogramming in Fanconi anemia: Evidence of compromised glucose oxidation, enhanced ketogenesis, and metabolic inflexibility.
Science advancesSynergistic inhibition of CHK1 and MUS81 to combat replication stress resistance in high-risk neuroblastoma.
Scientific reportsPiperine Targets the FANCL/UBE2T Complex to Inhibit the FA Pathway and Sensitize Bladder Cancer to Cisplatin.
Dose-response : a publication of International Hormesis SocietyA Deadly Duet: Fanconi Anemia (FA) With Head and Neck Cancer.
CureusThe Fanconi anemia pathway repairs colibactin-induced DNA interstrand cross-links.
Nature communicationsGenotoxic formaldehyde and lipid aldehydes are sources of DNA damage in keratinocytes.
bioRxiv : the preprint server for biologyFerroptosis and cancer: when iron turns against tumors.
Cellular and molecular life sciences : CMLSATM promotes reversed fork processing during DNA interstrand cross-link repair.
bioRxiv : the preprint server for biologyLoss of CFIm activates YAP/TAZ and connects mRNA cleavage and polyadenylation inhibition to BRCAness.
bioRxiv : the preprint server for biologyIncreased Vascular Age in Patients with Fanconi Anemia after Hematopoietic Cell Transplantation: Results of a Single-Center Descriptive Analysis.
Transplantation and cellular therapyFancl-mutant mice reveal central role of monoubiquitination in Fanconi anemia and a model for therapeutic gene editing.
Blood advancesThe NuRD chromatin remodeling complex contributes to repairing exogenous double-strand breaks in the Caenorhabditis elegans germline.
GeneticsDNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome.
American journal of hematologyTimeless prevents senescence-associated phenotypes and enhances DNA repair to promote esophageal cancer cell growth.
Experimental cell researchMCM8/9 and FANCD2 interact within a shared pathway in response to replication stress caused by DNA crosslinks.
DNA repairThe crucial role of circadian synchronization in bone marrow adipose tissue mesenchymal stem cells: insights into pathogenesis in Fanconi anemia and acute myeloid leukemia.
Molecular biology reportsGeneration of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation.
The Journal of pathologyCryo-electron microscopic visualization of RAD51 filament assembly and end-capping by XRCC3-RAD51C-RAD51D-XRCC2.
Science (New York, N.Y.)Loss of Fanconi anemia proteins causes a reliance on lysosomal exocytosis.
Cell death & diseaseBACH1 promotes hepatocellular carcinoma progression by targeting PDP1 towards the PI3K-AKT-mTOR signaling activation.
Bioorganic chemistryBRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
American journal of human geneticsA porcine model of Fanconi anemia.
PloS oneLnk deficiency enhances translesion synthesis to alleviate replication stress and promote hematopoietic stem cell fitness.
The Journal of clinical investigationBeyond Hematologic Malignancies: Colorectal Cancer as a Solid Tumor Manifestation of Inherited Bone Marrow Failure Syndromes.
International journal of molecular sciencesRed Blood Cell Antioxidant State in Fanconi Anemia: The Highlighted Roles of Pi-Class Glutathione S-Transferase and Glutathione Peroxidase.
Antioxidants (Basel, Switzerland)Lentiviral-mediated panErbB CAR-T cell therapy against head and neck squamous cell carcinomas for patients with Fanconi anemia.
Molecular therapy. OncologyUbiquitin and SUMO pathways in DNA replication and replication-coupled repair.
Critical reviews in biochemistry and molecular biologyMutagenesis of the PALB2 WD40 domain identifies variants defective in interaction with BRCA2 and DNA repair.
The Journal of biological chemistryInfectious complications in pediatric acute lymphoblastic leukemia treatment: A comparison of ALL-IC BFM 2009 vs. modified St. Jude total XV in a single-center retrospective cohort study.
Leukemia researchOutcome of immunosuppressive therapy in pediatric patients with acquired aplastic anemia.
Journal of family medicine and primary careEnding diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.
Orphanet journal of rare diseasesResearch Communication: Prevalence of Asymptomatic Premalignant Oesophageal Lesions in Patients With Fanconi Anaemia.
Alimentary pharmacology & therapeuticsAreas of Uncertainty in Pancreatic Cancer Surveillance: A Survey Across the International Pancreatic Cancer Early Detection (PRECEDE) Consortium.
JCO precision oncologyManagement of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genetics in medicine : official journal of the American College of Medical GeneticsPathogenic Variants, Family History, and Cumulative Risk of Breast Cancer in US Women.
JAMA oncologyDynamics of Fanconi anemia protein D2 in association with nuclear lipid droplet formation.
Journal of cell scienceDNA repair helicases: from mechanistic understanding to therapeutic implications.
NAR cancerGlobal Neurocognitive and Emotional Dysfunction in Fanconi Anemia: A Neuropsychological Case Report of a 39-Year-Old Patient.
Case reports in neurological medicineEmergence of PALB2 Reversion Mutations as a Mechanism of Resistance to Niraparib in Breast Cancer: A Case Report.
Cancer scienceA case of ADH5/ALDH2 deficiency combined with 3q29 microduplication syndrome.
BMC pediatricsThe TONSL-MMS22L complex and FANCM form an interdependent complex on chromatin to counter replication stress.
bioRxiv : the preprint server for biologyEditor's Note: Werner Syndrome Helicase Has a Critical Role in DNA Damage Responses in the Absence of a Functional Fanconi Anemia Pathway.
Cancer researchLncRNA LOXL1-AS1 promotes ovarian cancer progression by enhanced BRIP1 mRNA stability.
Medical oncology (Northwood, London, England)RAD51 -Related Fanconi Anemia: Expanding the Phenotypic Spectrum and Strong Association With VACTERL.
Clinical geneticsMechanistic insights into alcohol-induced DNA crosslink repair by Slx4-Xpf-Ercc1 nuclease complex in the Fanconi anaemia pathway.
Communications biologyEXO1 as a therapeutic target for Fanconi Anaemia, ZRSR2 and BRCA1-A complex deficient cancers.
Nature communicationsSellar Metastatic Follicular Thyroid Carcinoma With Novel Mutations Clinically Mimicking Pituitary Macroadenoma: Intraoperative Frozen Section Diagnosis Challenges.
Anticancer research[Hereditary genetic testing and its application in the diagnosis, treatment, and prevention of breast cancer].
Magyar onkologiaLINE-1 Retroelement Activation and Neuroinflammation in Persons With Fanconi Anemia.
Pediatric blood & cancerUptake of Risk Reducing Mastectomy in Older BRCA1/2 and PALB2 Carriers Undergoing Genetic Testing after 60 Years of Age.
Annals of surgical oncologyComplete remission with olaparib in BRIP1-mutated metastatic high-grade pleomorphic sarcoma: case study and literature review - an example of a genomic profiling-based tumor treatment, in a cancer type with high unmet clinical need.
Acta oncologica (Stockholm, Sweden)DNA polymerase kappa is the primary translesion synthesis polymerase for aldehyde ICLs.
Nucleic acids researchInsights in bone marrow failure syndromes: take home messages from the 3rd ESH-EBMT-EHA-IPIG translational research conference.
Bone marrow transplantationHead and Neck Cancer in Fanconi Anemia: Clinical Challenges and Molecular Insights into a DNA Repair Disorder.
CancersSpecifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants.
American journal of human geneticsTargeting BACH1 by HPPE inhibits the Wnt/β-catenin pathway and malignant phenotype in glioblastoma cells.
Apoptosis : an international journal on programmed cell deathEpithelial competition determines gene therapy potential to suppress Fanconi Anemia oral cancer risk.
PLoS computational biologyIntegrated single-cell and spatial transcriptomics uncover the prognostic, epigenetic, and immunological roles of FANCC in low-grade glioma.
Neurological researchHeterozygous Germline Fanconi Anemia-Related Gene Mutations Increase Susceptibility to Germ Cell Tumors.
JCO precision oncologyPrevalence of germline pathogenic variants in 779 patients with metastatic prostate cancer.
BJU international8-Oxoguanine Disrupts G-Quadruplex DNA Stability and Modulates FANCJ AKKQ Peptide Binding.
Molecules (Basel, Switzerland)Impact of Incidental Germline BRCA1/2 and PALB2 Alterations on EGFR Monotherapy Real-World Outcomes for Patients With Advanced Non-Small-Cell Lung Cancer.
Clinical lung cancerInsights into Fanconi Anemia Based on Molecular and Clinical Characteristics: A Multicentre Study of 13 Patients.
Children (Basel, Switzerland)Opening of a phase Ib/II study to investigate the safety and efficacy of Afatinib in patients with Fanconi anemia and unresectable locally advanced or metastatic head and neck squamous cell carcinoma.
BMC cancerPrevalence of Incidental Breast Cancer and Precursor Lesions in Carriers of Pathogenic Germline Variants Undergoing Risk-Reducing Mastectomy.
Anticancer researchSLFN11, far from being limited to responding to cancer DNA damage.
Clinical and experimental medicineCase Report: Eltrombopag in mosaic and gene therapy-treated patients with Fanconi anemia.
Frontiers in pediatricsWhole exome sequencing identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer in Hispanic/Latina women.
Nature communicationsG-quadruplexes as a source of vulnerability in BRCA2-deficient granule cell progenitors and medulloblastoma.
Proceedings of the National Academy of Sciences of the United States of AmericaPotential role of Fanconi anemia pathway in the pathogenesis of endometrial cancer (Review).
Molecular medicine reportsThe haplotype-resolved chromosome-level genome assembly of Spinibarbus caldwelli provides insights into environmental adaptability and disease resistance.
Comparative biochemistry and physiology. Part D, Genomics & proteomicsBRCA1 and BRCA2 gene expression: p53- and cell cycle-dependent repression requires RB and DREAM.
Cell death and differentiationGEN1 regulates cell proliferation, migration, apoptosis and ferroptosis in gastric cancer.
World journal of gastrointestinal oncologyHomozygous FANCM Variant c.5101C>T p.(Gln1701*) in a Patient With Early Onset Breast Cancer, Chemotherapy Toxicity, and Chromosome Fragility: A Case Report.
Cancer reports (Hoboken, N.J.)Identification of hypoxia-related diagnostic biomarkers and immune signatures in diminished ovarian reserve.
Frontiers in geneticsHomologous Repair-Deficient Pancreatic Cancer: Refined Targeting of DNA Damage Response is an Effective Therapeutic Strategy.
United European gastroenterology journalA rescue fanconi anemia humanized mouse model with endogenous FA mutation and high human hematopoietic stem cell chimerism.
Molecular therapy. Methods & clinical developmentGenotype-phenotype correlations in biallelic carriers of FANCM protein truncating variants: A systematic literature review.
Mutation research. Reviews in mutation research53BP1 regulates p53-E2F7-dependent transcriptional gene repression and participates in the Fanconi anemia pathway.
Cell reportsThe Fanconi Anemia Pathway Inhibits mTOR Signaling and Prevents Accelerated Translation in Head and Neck Cancer Cells.
CancersThe Impact of DDR Gene Mutations on the Efficacy of Etoposide Plus Cisplatin in Grade 3 Metastatic Gastroenteropancreatic (GEP)-Neuroendocrine Carcinoma (NEC).
CancersEmerging drivers of DNA repeat expansions.
Biochemical Society transactionsMR Promotes Ferroptosis in Gastric Cancer by Regulating FANCD2 Expression Mediated by m6A Modification.
Applied biochemistry and biotechnologyComprehensive Bioinformatics Analysis Reveals Associations between the DNA Damage Response and Osteoarthritis.
GerontologyExploration of possible association of BRIP1 pathogenic variants with central nervous system cancers in an institutional cohort.
Journal of medical geneticsOral Verruciform Xanthoma as a Manifestation of Chronic Graft-Versus-Host Disease in Fanconi Anemia: A Rare Case Report.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryExploring the aftermath of hematopoietic cell transplantation: 18-year insights into post-transplant neoplasms.
Frontiers in oncologyPathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health.
Clinical geneticsCRISPR-Cas9: a prominent genome editing tool in the management of inherited blood disorders and hematological malignancies.
Current research in translational medicine"I would love to talk to someone that actually understands": Psychosocial experiences of adults with Fanconi anemia.
Journal of health psychologyRBM39 silence suppresses esophageal cancer proliferation and metastasis via FANCD2 mRNA destabilization.
Cellular signallingPALB2 c.3106G>C (p.Val1036Leu) in a familial cancer setting suggesting potential pathogenicity.
BMJ case reportsPALB2 and 53BP1 govern post-resection homologous recombination DNA repair.
Molecular cellGenetic landscape of Pakistani familial breast cancer patients using multigene panel testing.
International journal of cancerComprehensive review on Fanconi anemia: insights into DNA interstrand cross-links, repair pathways, and associated tumors.
Orphanet journal of rare diseasesPALB2 mutations increase oncogenic properties of breast epithelial cells by enhancing JAM3 and PARVB expression.
Biochemical and biophysical research communicationsAlu-mediated FANCD2 exonic deletion contributes to Fanconi anaemia.
British journal of haematologyBRCA2 Pre-mRNA Differential 5' Splicing: A Rescue of Functional Protein Properties from Pathogenic Gene Variants and a Lifeline for Fanconi Anemia D1 Patients.
International journal of molecular sciencesIdentification of a BACH1 lung cancer signature: A novel tool for understanding BACH1 biology and identifying new inhibitors.
Redox biologyNSUN5 Mediates Resistance to Doxorubicin via Up-regulation of DNA Damage Repair Proteins BRCA2 and BRIP1 in Colorectal Cancer.
The American journal of pathologyHematopoietic Stem Cell Transplant in Adult Patients with Fanconi Anemia: A Review.
Diseases (Basel, Switzerland)Enhanced sensitivity, robust p21 activation, and sustained DNA repair responses to interstrand crosslinks in elephant cells compared to humans.
Frontiers in veterinary scienceNovel trispecific killer engager targeting B7-H3 enhances natural killer cell antitumor activity against head and neck cancer.
Journal for immunotherapy of cancerIrradiation- and busulfan-free stem cell transplantation in Fanconi anemia using an anti-CD117 antibody: a phase 1b trial.
Nature medicineMulti-omics Characterization of Acquired Olaparib Resistance in BRCA1 and BRCA2 Mutant Breast Cancer Cell Lines.
Molecular & cellular proteomics : MCPEltrombopag for Bone Marrow Failure in Fanconi Anemia: Results From the Phase II Clinical Trial FANCREV.
European journal of haematologySkin Signals: Exploring the Intersection of Cancer Predisposition Syndromes and Dermatological Manifestations.
International journal of molecular sciencesExpanding the Genomic Landscape of HBOC and Cancer Risk Among Mutation Carriers.
International journal of molecular sciencesRecessive FANCM cancer syndrome with high cancer risks, chemotherapy toxicity, chromosome fragility, and gonadal failure.
Genetics in medicine : official journal of the American College of Medical GeneticsIdentification of FANCG as a prognostic factor for prostate cancer.
European journal of medical researchRole and mechanism of RPA1 in the development and progression of glioma.
Experimental and therapeutic medicineEnvironmental arsenic hijacks DDX5-mediated FANCA splicing to impair R-loops resolution and drive ovarian aging.
Ecotoxicology and environmental safetyRAD51 and PALB2 in precision oncology: Clinical implications for HRD associated breast and ovarian cancers (Review).
International journal of oncology[Family history of breast cancer - Genetic screening and risk-based surveillance].
Bulletin du cancerAssociation of TGF-β1 -509 C > T (rs1800469) polymorphism with bone marrow failure severity in Fanconi anemia subjects.
Molecular biology reportsAssessing germline mutational profile and its clinicopathological associations in Triple Negative Breast Cancer.
Cancer geneticsAnalysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
medRxiv : the preprint server for health sciencesDisruption of Microhomology-mediated End-joining in Ewing Sarcoma.
bioRxiv : the preprint server for biologymiR-29a-3p and TGF-β Axis in Fanconi anemia: mechanisms driving metabolic dysfunction and genome stability.
Cellular and molecular life sciences : CMLSDevelopment of translational read-through-inducing drugs as novel therapeutic options for patients with Fanconi anemia.
Cell death discoveryALDH9A1 deficiency as a source of endogenous DNA damage that requires repair by the Fanconi anemia pathway.
The Journal of cell biologyAssociações
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A anemia de Fanconi é um distúrbio genético de reparo do DNA que causa falência progressiva da medula óssea, malformações físicas variadas e risco de neoplasias. A condição se manifesta principalmente durante a infância e tem prevalência de 1 a 9 indivíduos a cada 100.000 pessoas.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Anemia de Fanconi. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/anemia-de-fanconi
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Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Anemia de Fanconi
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- Doença rara (ontologia)
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- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
- Reposicionamento
- fonte: Drug Repurposing Hub
- Ensaios clínicos
- fonte: ClinicalTrials.gov
