Molecular pathogenesis of Fanconi anemia: recent progress.

No abstract is available for this paper.

• Publication year

  2006

• Venue

  Blood

• Publication date

  2006-06-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1182/BLOOD-2005-10-4240PMID 16493006
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• [Oncogene].

  2019cited by this paper
• Fanconi Anemia

  2019cited by this paper
• Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase

  2007cited by this paper
• Homozygous deletion of p16INK4a and tobacco carcinogen exposure in nonsmall cell lung cancer

  2006cited by this paper
• Regulation of monoubiquitinated PCNA by DUB autocleavage

  2006cited by this paper
• Inducibility of nuclear Rad51 foci after DNA damage distinguishes all Fanconi anemia complementation groups from D1/BRCA2.

  2006cited by this paper
• DSS1 is required for the stability of BRCA2

  2006cited by this paper
• CpG island methylation of DNA damage response genes in advanced ovarian cancer.

  2005cited by this paper
• Regulated interaction of the Fanconi anemia protein, FANCD2, with chromatin.

  2005cited by this paper
• The FA/BRCA pathway is involved in melphalan-induced DNA interstrand cross-link repair and accounts for melphalan resistance in multiple myeloma cells.

  2005cited by this paper
• The Fanconi anemia pathway is required for the DNA replication stress response and for the regulation of common fragile site stability.

  2005cited by this paper
• Direct DNA Binding Activity of the Fanconi Anemia D2 Protein*

  2005cited by this paper
• Fancd2 functions in a double strand break repair pathway that is distinct from non-homologous end joining.

  2005cited by this paper
• A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.

  2005cited by this paper
• The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

  2005cited by this paper
• Heterozygosity for p53 (Trp53+/-) accelerates epithelial tumor formation in fanconi anemia complementation group D2 (Fancd2) knockout mice.

  2005cited by this paper
• BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ.

  2005cited by this paper
• Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy

  2005cited by this paper
• Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase

  2005cited by this paper
• Germ line Fanconi anemia complementation group C mutations and pancreatic cancer.

  2005cited by this paper
• Fanconi Anemia Protein FANCD2 Promotes Immunoglobulin Gene Conversion and DNA Repair through a Mechanism Related to Homologous Recombination

  2005cited by this paper
• The vertebrate Hef ortholog is a component of the Fanconi anemia tumor-suppressor pathway

  2005cited by this paper
• Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair.

  2005cited by this paper
• Secular trends in outcomes for Fanconi anemia patients who receive transplants: implications for future studies.

  2005cited by this paper
• A FancD2-monoubiquitin fusion reveals hidden functions of Fanconi anemia core complex in DNA repair.

  2005cited by this paper
• The Fanconi anemia group A protein modulates homologous repair of DNA double-strand breaks in mammalian cells.

  2005cited by this paper
• Functional relationships of FANCC to homologous recombination, translesion synthesis, and BLM

  2005cited by this paper
• The ubiquitin-proteasome pathway and its role in cancer.

  2005cited by this paper
• The life and death of DNA-PK

  2005cited by this paper
• A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M

  2005cited by this paper
• The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

  2005cited by this paper
• The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair

  2005cited by this paper
• Fanconi Anemia Complementation Group D2 (FANCD2) Functions Independently of BRCA2- and RAD51-associated Homologous Recombination in Response to DNA Damage*

  2005cited by this paper
• The deubiquitinating enzyme USP1 regulates the Fanconi anemia pathway.

  2005cited by this paper
• Identification of multiple nuclear export sequences in Fanconi anemia group A protein that contribute to CRM1-dependent nuclear export.

  2005cited by this paper
• The Fanconi anemia core complex associates with chromatin during S phase.

  2005cited by this paper
• Impaired Type I IFN-Induced Jak/STAT Signaling in FA-C Cells and Abnormal CD4+ Th Cell Subsets in Fancc−/− Mice1

  2004cited by this paper
• ATR couples FANCD2 monoubiquitination to the DNA-damage response.

  2004cited by this paper
• Fanconi anaemia and leukaemia – clinical and molecular aspects

  2004cited by this paper
• Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways.

  2004cited by this paper
• Phosphorylation of Fanconi Anemia (FA) Complementation Group G Protein, FANCG, at Serine 7 Is Important for Function of the FA Pathway*

  2004cited by this paper
• Functional Interaction of Monoubiquitinated FANCD2 and BRCA2/FANCD1 in Chromatin

  2004cited by this paper
• Regulation of the Fanconi Anemia Group C Protein through Proteolytic Modification*

  2004cited by this paper
• BLM and the FANC proteins collaborate in a common pathway in response to stalled replication forks

  2004cited by this paper
• Promoter hypermethylation of FANCF: disruption of Fanconi Anemia-BRCA pathway in cervical cancer.

  2004cited by this paper
• The DNA crosslink‐induced S‐phase checkpoint depends on ATR–CHK1 and ATR–NBS1–FANCD2 pathways

  2004cited by this paper
• The Fanconi Anemia Gene Product FANCF Is a Flexible Adaptor Protein*

  2004cited by this paper
• Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia

  2004cited by this paper
• X-linked inheritance of Fanconi anemia complementation group B

  2004cited by this paper
• Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.

  2004cited by this paper
• Repair Kinetics of Genomic Interstrand DNA Cross-Links: Evidence for DNA Double-Strand Break-Dependent Activation of the Fanconi Anemia/BRCA Pathway

  2004cited by this paper
• Not-so-novel phenotypes in the Fanconi anemia group D2 mouse model.

  2004cited by this paper
• Re: Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients.

  2004cited by this paper
• Role of promoter hypermethylation in Cisplatin treatment response of male germ cell tumors

  2004cited by this paper
• Abnormal Cytokinesis in Cells Deficient in the Breast Cancer Susceptibility Protein BRCA2

  2004cited by this paper
• The Fanconi Anemia Proteins Functionally Interact with the Protein Kinase Regulated by RNA (PKR)*

  2004cited by this paper
• The Fanconi anaemia gene FANCC promotes homologous recombination and error-prone DNA repair.

  2004cited by this paper
• Hallmarks of 'BRCAness' in sporadic cancers

  2004cited by this paper
• Chemosensitizing tumor cells by targeting the Fanconi anemia pathway with an adenovirus overexpressing dominant-negative FANCA

  2004cited by this paper
• Interaction of human DNA polymerase eta with monoubiquitinated PCNA: a possible mechanism for the polymerase switch in response to DNA damage.

  2004cited by this paper
• Proteasome involvement in the repair of DNA double-strand breaks.

  2004cited by this paper
• Inactivation of the Fanconi anemia/BRCA pathway in lung and oral cancers: implications for treatment and survival

  2004cited by this paper
• Signaling through monoubiquitination.

  2004cited by this paper
• Oxidant Hypersensitivity of Fanconi Anemia Type C-deficient Cells Is Dependent on a Redox-regulated Apoptotic Pathway*

  2004cited by this paper
• NBS1 and its functional role in the DNA damage response.

  2004cited by this paper
• FANCG Is Phosphorylated at Serines 383 and 387 during Mitosis

  2004cited by this paper
• The Fanconi Anemia Core Complex Forms Four Complexes of Different Sizes in Different Subcellular Compartments*

  2004cited by this paper
• Functional defects in the fanconi anemia pathway in pancreatic cancer cells.

  2004cited by this paper
• The Mre11 complex and the metabolism of chromosome breaks: the importance of communicating and holding things together.

  2004cited by this paper
• Tracing the network connecting brca and fanconi anaemia proteins

  2004cited by this paper
• Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients.

  2004cited by this paper
• Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood.

  2004cited by this paper
• Multiple TPR motifs characterize the Fanconi anemia FANCG protein.

  2004cited by this paper
• Genetic Steps of Mammalian Homologous Repair with Distinct Mutagenic Consequences

  2004cited by this paper
• Functional Screen of the Fanconi Anemia Pathway in Cancer Cells by Fancd2 Immunoblot

  2004cited by this paper
• Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes.

  2004cited by this paper
• Nonerythroid αII spectrin is required for recruitment of FANCA and XPF to nuclear foci induced by DNA interstrand cross-links

  2003cited by this paper
• Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.

  2003cited by this paper
• No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families.

  2003cited by this paper
• ATM and related protein kinases: safeguarding genome integrity

  2003cited by this paper
• The BRCT Domain Is a Phospho-Protein Binding Domain

  2003cited by this paper
• BRCA1-independent ubiquitination of FANCD2.

  2003cited by this paper
• Disruption of the Fanconi anemia–BRCA pathway in cisplatin-sensitive ovarian tumors

  2003cited by this paper
• Acquired FANCA dysfunction and cytogenetic instability in adult acute myelogenous leukemia.

  2003cited by this paper
• A Multiprotein Nuclear Complex Connects Fanconi Anemia and Bloom Syndrome

  2003cited by this paper
• Fanconi anemia type C and p53 cooperate in apoptosis and tumorigenesis.

  2003cited by this paper
• Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factor.

  2003cited by this paper
• Cancer incidence in persons with Fanconi anemia.

  2003cited by this paper
• Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/FANCD1.

  2003cited by this paper
• Genotypic and phenotypic comparisons of de novo and acquired melphalan resistance in an isogenic multiple myeloma cell line model.

  2003cited by this paper
• FANCF methylation contributes to chemoselectivity in ovarian cancer.

  2003cited by this paper
• Fanconi anemia gene mutations in young-onset pancreatic cancer.

  2003cited by this paper
• The Fanconi anaemia/BRCA pathway

  2003cited by this paper
• Bi‐allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia

  2003cited by this paper
• Gene therapy for fanconi anemia.

  2003cited by this paper
• RecQ helicases: caretakers of the genome

  2003cited by this paper
• Fanconi Anemia FANCG Protein in Mitigating Radiation- and Enzyme-Induced DNA Double-Strand Breaks by Homologous Recombination in Vertebrate Cells

  2003cited by this paper
• Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport.

  2003cited by this paper
• Deficient Regulation of DNA Double-strand Break Repair in Fanconi Anemia Fibroblasts*

  2003cited by this paper
• Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice.

  2003cited by this paper

• Alu‐mediated FANCD2 exonic deletion contributes to Fanconi anaemia

  2025cites this paper
• Age-associated G-quadruplex accumulation and DDX5 loss shape chromatin landscapes in human astrocytes

  2025cites this paper
• Base Editors-Mediated Gene Therapy in Hematopoietic Stem Cells for Hematologic Diseases

  2024cites this paper
• Fanconi Anemia a Rare Disease

  2024cites this paper
• Predicting functionally important breast cancer SNPs using pleiotropy, conservation, and protein structure

  2024cites this paper
• Alloengraftment without significant toxicity or GVHD in CD45 antibody-drug conjugate conditioned Fanconi anemia mice.

  2024cites this paper
• Case report: Highly response to low-dose brachytherapy in recurrent retroperitoneal leiomyosarcoma with FANCD2 frameshift mutation: a unique case study

  2024cites this paper
• Multimolecular characteristics and role of BRCA1 interacting protein C-terminal helicase 1 (BRIP1) in human tumors: a pan-cancer analysis

  2023cites this paper
• Clinical and cytogenetic profile of Fanconi anemia diagnosed after implementation of mitomycin C cytogenetic test in the state of Pernambuco, Brazil

  2023cites this paper
• Fanconi anemia and Aldehyde Degradation Deficiency Syndrome: Metabolism and DNA repair protect the genome and hematopoiesis from endogenous DNA damage.

  2023cites this paper
• The Impact of Artificial Intelligence in the Odyssey of Rare Diseases

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• Association between homologous recombination deficiency and outcomes with platinum and platinum-free chemotherapy in patients with triple-negative breast cancer

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• Ovarian toxicity of carboplatin and paclitaxel in mouse carriers of mutation in BRIP1 tumor suppressor gene

  2022cites this paper
• Identification of Common and Specific Genes Involved in Mouse Models of Age-Related and Cyclophosphamide-Induced Diminished Ovarian Reserve

  2022cites this paper
• Stress-triggered hematopoietic stem cell proliferation relies on PrimPol-mediated repriming.

  2022cites this paper
• The RPA inhibitor HAMNO sensitizes Fanconi anemia pathway-deficient cells

  2022cites this paper
• RAD54B mutations enhance the sensitivity of ovarian cancer cells to poly(ADP-ribose) polymerase (PARP) inhibitors

  2022cites this paper
• DNAH2 facilitates the homologous recombination repair of Fanconi anemia pathway through modulating FANCD2 ubiquitination

  2021cites this paper
• NK Cell Development and Function in Patients with Fanconi Anemia.

  2021cites this paper
• Hematology of Childhood and Adolescence

  2021cites this paper
• PARP1 as a therapeutic target in acute myeloid leukemia and myelodysplastic syndrome

  2021cites this paper
• Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?

  2021cites this paper
• Interstrand Crosslink Repair: New Horizons of DNA Damage Repair

  2021cites this paper
• The Role of Ataxia Telangiectasia Mutant and Rad3-Related DNA Damage Response in Pathogenesis of Human Papillomavirus

  2020cites this paper
• Loss of the Fanconi anemia-associated protein NIPA causes bone marrow failure.

  2020cites this paper
• New Understanding of Fanconi Anemia Signaling Network upon Studying FANCD2

  2020influential citation
• A Review: CRISPR/Cas9-Mediated Genome Editing in Hematopoietic Stem and Progenitor Cells (HSPCs) and Their Applications on Hematological Disorders

  2020cites this paper
• Alternative DNA Structures In Vivo: Molecular Evidence and Remaining Questions

  2020cites this paper
• FANCA Gene

  2020cites this paper
• FANCC Gene

  2020cites this paper
• FANCG Gene

  2020cites this paper
• Genomic Instability and the Oncohistone H3K27M Drive Gliomagenesis in a Murine Model

  2020cites this paper
• Fanconi Anemia and the Underlying Causes of Genomic Instability.

  2020cites this paper
• Endocrine profiling in patients with Fanconi anemia, homozygous for a FANCG founder mutation

  2020cites this paper
• FANCD2 knockdown with shRNA interference enhances the ionizing radiation sensitivity of nasopharyngeal carcinoma CNE-2 cells.

  2020cites this paper
• Le suppresseur de tumeurs PALB2 : étude fonctionnelle du domaine N-terminal de liaison à l'ADN et établissement de modèles de létalité synthétique

  2019cites this paper
• BRCA-related ATM-mediated DNA double-strand break repair and ovarian aging.

  2019cites this paper
• Targeting ADP-ribosylation by PARP inhibitors in acute myeloid leukaemia and related disorders.

  2019cites this paper
• Quick glance at Fanconi anemia and BRCA2/FANCD1

  2019cites this paper
• Assembly of a G-Quadruplex Repair Complex by the FANCJ DNA Helicase and the REV1 Polymerase

  2019cites this paper
• Identifying candidate diagnostic markers for early stage of non-small cell lung cancer

  2019cites this paper
• Exploring the druggable space around the Fanconi anemia pathway using machine learning and mechanistic models

  2019cites this paper
• Humanized mice are precious tools for evaluation of hematopoietic gene therapies and preclinical modeling to move towards a clinical trial.

  2019cites this paper
• Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia

  2019cites this paper
• Redox‐sensitive signaling in inflammatory T cells and in autoimmune disease

  2018cites this paper
• Mutagenesis, Genetic Disorders and Diseases

  2018cites this paper
• Evaluation on the genetic instability detecting methods for rapid diagnose of Fanconi anemia used in the undeveloped areas of China

  2018cites this paper
• Fanconi Anemia Signaling: The Role of FANCD2 During M Phase.

  2018cites this paper
• Fanconi anemia

  2018cites this paper
• Nucleases of Metallo--Lactamase and Protein Phosphatase Families in DNA Repair

  2018cites this paper
• Modeling Hematological Diseases and Cancer With Patient-Specific Induced Pluripotent Stem Cells

  2018cites this paper
• Superficial Esophageal Cancer in a Fanconi Anemia Patient That Was Treated Successfully by Endoscopic Submucosal Resection

  2018cites this paper
• 24 An Emerging Face of Fanconi Anemia : Cancer

  2018cites this paper
• Dysfunctional DNA repair pathway via defective FANCD2 gene engenders multifarious exomic and transcriptomic effects in Fanconi anemia

  2018cites this paper
• Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial

  2018cites this paper
• Inhibited, trapped or adducted: the optimal selective synthetic lethal mix for BRCAness

  2017cites this paper
• Screening for mutations in two exons of FANCG gene in Pakistani population.

  2017cites this paper
• Analysis of molecular components, causing Fanconi anemia-like phenotype in HPV-16 infected head and neck squamous cell carcinomas

  2017cites this paper
• FANCD2 and DNA Damage

  2017cites this paper
• Involvement of FANCD2 in Energy Metabolism via ATP5α

  2017cites this paper
• Multifaceted Fanconi Anemia Signaling.

  2017cites this paper
• The Role of PALB2 in the DNA Damage Response and Cancer Predisposition

  2017cites this paper
• Overlooked FANCD2 variant encodes a promising, portent tumor suppressor, and alternative polyadenylation contributes to its expression

  2017cites this paper
• Impairment of fetal hematopoietic stem cell function in the absence of Fancd2.

  2017cites this paper
• In Vivo RNAi Screen Unveils PPARγ as a Regulator of Hematopoietic Stem Cell Homeostasis

  2017cites this paper
• Targeting the ATR-CHK1 Axis in Cancer Therapy

  2017cites this paper
• Molecular analysis of rare patients with bone marrow failure syndromes highlights a role of epigenetic regulation and chromatin biology in hematopoesis

  2017cites this paper
• Common Variable Immunodeficiency Caused by FANC Mutations

  2017cites this paper
• CRISPR‐Cas9 technology and its application in haematological disorders

  2016cites this paper
• Understanding disease mechanisms with statistical models of signaling pathway activities

  2016cites this paper
• Replication fork dynamics and the DNA damage

  2016cites this paper
• Mechanisms of interstrand DNA crosslink repair and human disorders

  2016cites this paper
• Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

  2016cites this paper
• Dental Perspective of Rare Disease of Fanconi Anemia: Case Report with Review

  2016cites this paper
• Nuclear α Spectrin Differentially Affects Monoubiquitinated Versus Non‐Ubiquitinated FANCD2 Function After DNA Interstrand Cross‐Link Damage

  2016cites this paper
• Fanconi anemia genes in lung adenocarcinoma- a pathway-wide study on cancer susceptibility

  2016cites this paper
• BLM promotes the activation of Fanconi Anemia signaling pathway

  2016cites this paper
• Monitoring the response of head and neck tumour tissue to irradiation using a microfluidic-based approach

  2016cites this paper
• Investigation of FANCA gene in Fanconi anaemia patients in Iran

  2016cites this paper
• Synthetic Aziridines in Medicinal Chemistry: A Mini-Review.

  2016cites this paper
• BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.

  2016cites this paper
• Assessing the Changing Oral and Pharyngeal Cancer Demographic in the United States

  2016cites this paper
• Nuclear alpha spectrin: Critical roles in DNA interstrand cross-link repair and genomic stability

  2016cites this paper
• Biochemical and cell biological assays to identify and characterize DNA helicase inhibitors.

  2016cites this paper
• The molecular and genetic basis of inherited cancer risk in gynaecology

  2015cites this paper
• Advances in the understanding of Fanconi Anemia Complementation Group D2 Protein (FANCD2) in human cancer.

  2015cites this paper
• Further insights into the regulation of the fanconi anemia FANCD2 protein

  2015cites this paper
• Lentiviral-Mediated Gene Therapy in Fanconi Anemia-A Mice Reveals Long-Term Engraftment and Continuous Turnover of Corrected HSCs.

  2015cites this paper
• Analysis of a FANCE Splice Isoform in Regard to DNA Repair.

  2015cites this paper
• Mutated Fanconi anemia pathway in non-Fanconi anemia cancers

  2015cites this paper
• Influence of PJ34 on the genotoxicity induced by melphalan in human multiple myeloma cells

  2015cites this paper
• PJ34, a poly(ADP-ribose) polymerase (PARP) inhibitor, reverses melphalan-resistance and inhibits repair of DNA double-strand breaks by targeting the FA/BRCA pathway in multidrug resistant multiple myeloma cell line RPMI8226/R.

  2015cites this paper
• BRCA1/2 mutations perturb telomere biology: characterization of structural and functional abnormalities in vitro and in vivo

  2015cites this paper
• Promoting Genome Stability via Multiple DNA Repair Pathways

  2015cites this paper
• [The role of the Fanconi anemia pathway in the pathophysiology of ovarian cancer].

  2015cites this paper
• Fanconi Anemia: Overview of the Disease and the Role of Hematopoietic Transplantation

  2015cites this paper
• A DNA/HDAC dual-targeting drug CY190602 with significantly enhanced anticancer potency

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• Genetic Counseling for Fanconi Anemia: Crosslinking Disciplines

  2014cites this paper
• Fanconi anemia pathway defects in inherited and sporadic cancers.

  2014cites this paper