The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

No abstract is available for this paper.

• Publication year

  2005

• Venue

  Nature Genetics

• Publication date

  2005-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/ng1625PMID 16116423
• 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.

• A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M

  2005cited by this paper
• Stroke services, stroke networks: is there an ideal model?

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

  2005cited by this paper
• Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes.

  2004cited by this paper
• Crosslinks and crosstalk: human cancer syndromes and DNA repair defects.

  2004cited by this paper
• The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations.

  2004cited by this paper
• Microcell-mediated chromosome transfer (MMCT): small cells with huge potential

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

  2003cited by this paper
• BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.

  2001cited by this paper
• The emerging genetic and molecular basis of Fanconi anaemia

  2001cited by this paper
• Cloning of cDNAs for Fanconi's anaemia by functional complementation

  1992cited by this paper

• BLM and FANCJ role in the response to G-quadruplex-dependent telomeric replicative stress

  2026cites this paper
• The Genetic and Molecular Analyses of Rare Candidate Germline BRIP1/FANCJ Variants Implicated in Hereditary Breast and Ovarian Cancers

  2026cites this paper
• Tissue-Specific Effects of the DNA Helicase FANCJ/BRIP1/BACH1 on Repeat Expansion in a Mouse Model of the Fragile X-Related Disorders

  2025cites this paper
• Effects of hydrazone-based G-quadruplex ligands on FANCJ/BRIP1-depleted cancer cells and a Caenorhabditis elegans dog-1−/− strain

  2025cites this paper
• Hidden Splice Variants in Inborn Errors of Immunity: Uncovering Diagnoses and Therapeutic Targets.

  2025cites this paper
• Bi-allelic variation ofFANCJ(BRIP1) identified in premature ovarian insufficiency

  2025cites this paper
• КЛИНИЧЕСКИЙ ПОЛИМОРФИЗМ АНЕМИИ ФАНКОНИ: СОВРЕМЕННОЕ СОСТОЯНИЕ ПРОБЛЕМЫ

  2024cites this paper
• Systematic investigation of BRCA1-A, -B, and -C complexes and their functions in DNA damage response and DNA repair

  2024cites this paper
• FANCJ DNA helicase is recruited to the replisome by AND-1 to ensure genome stability

  2024cites this paper
• Iron–Sulfur Clusters: Assembly and Biological Roles

  2024cites this paper
• G-quadruplex resolution: From molecular mechanisms to physiological relevance.

  2023cites this paper
• Chemo-Phosphoproteomic Profiling with ATR Inhibitors Berzosertib and Gartisertib Uncovers New Biomarkers and DNA Damage Response Regulators

  2023cites this paper
• Recurrent Tumefactive Central Nervous System Lesions Due to BRIP1-Related Fanconi Anemia

  2023cites this paper
• Genetic and molecular analyses of candidate germline BRIP1/FANCJ variants implicated in breast and ovarian cancer

  2023cites this paper
• RUNX1 deficiency cooperates with SRSF2 mutation to induce multilineage hematopoietic defects characteristic of MDS

  2022cites this paper
• Genome-scale mapping of DNA damage suppressors identifies GNB1L as essential for ATM and ATR biogenesis

  2022cites this paper
• Association Of Variations In The Fanconi Anemia Complementation Group And Prognosis In Non-small Cell Lung Cancer Patients With Platinum-based Chemotherapy.

  2022cites this paper
• Moderate-Risk Genes for Hereditary Ovarian Cancers Involved in the Homologous Recombination Repair Pathway

  2022cites this paper
• Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing

  2022cites this paper
• Inherited bone marrow failure in the pediatric patient

  2022cites this paper
• Mammalian Resilience Revealed by a Comparison of Human Diseases and Mouse Models Associated With DNA Helicase Deficiencies

  2022cites this paper
• FANCJ DNA helicase is recruited to the replisome by AND-1 to ensure genome stability

  2022cites this paper
• Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair

  2022cites this paper
• Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer

  2022cites this paper
• Structural mechanism underpinning Thermus oshimai Pif1‐mediated G‐quadruplex unfolding

  2022cites this paper
• Comparative genomics and selection analysis of Yeonsan Ogye black chicken with whole-genome sequencing.

  2022cites this paper
• An emerging picture of FANCJ's role in G4 resolution to facilitate DNA replication.

  2021cites this paper
• How to untie G-quadruplex knots and why?

  2021cites this paper
• Replication gaps are a key determinant of PARP inhibitor synthetic lethality with BRCA deficiency.

  2021cites this paper
• Single-molecule imaging reveals replication fork coupled formation of G-quadruplex structures hinders local replication stress signaling

  2021cites this paper
• Revisiting the implications of positive germline testing results using multi-gene panels in a cohort of individuals with personal and/or family history of Breast cancer

  2021cites this paper
• To skip or not to skip: choosing repriming to tolerate DNA damage.

  2021cites this paper
• Management of Early Stage Breast Cancer: Basics and Controversies

  2021cites this paper
• Mechanisms of hexameric helicases

  2021cites this paper
• Focal Point of Fanconi Anemia Signaling

  2021cites this paper
• Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients

  2021cites this paper
• Multistep mechanism of G-quadruplex resolution during DNA replication

  2021cites this paper
• Homologous Recombination Deficiencies and Hereditary Tumors

  2021cites this paper
• A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects

  2021cites this paper
• Identifying G-Quadruplex-DNA-Disrupting Small Molecules.

  2021cites this paper
• Beyond base excision repair: an evolving picture of mitochondrial DNA repair

  2021cites this paper
• Inherited bone marrow failure syndromes are a diverse group of rare disorders associated with insufficient production of blood cells and cancer predisposition

  2020cites this paper
• Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion

  2020cites this paper
• Disclosing the actual efficiency of G-quadruplex-DNA–disrupting small molecules

  2020cites this paper
• Evolving insights: how DNA repair pathways impact cancer evolution

  2020cites this paper
• Molecular Mechanisms of Early Breast Cancer

  2020cites this paper
• Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities

  2020cites this paper
• Cancer-associated mutations in the iron-sulfur domain of FANCJ affect G-quadruplex metabolism

  2020cites this paper
• University of Birmingham Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion

  2020cites this paper
• History of DNA Helicases

  2020cites this paper
• BRIP1 rs10744996C>A variant increases the risk of chronic obstructive pulmonary disease in the Mongolian population of northern China

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

  2020cites this paper
• The FANC/BRCA Pathway Releases Replication Blockades by Eliminating DNA Interstrand Cross-Links

  2020cites this paper
• DNA helicases and their roles in cancer.

  2020cites this paper
• Fanconi Anemia Pathway: Mechanisms of Breast Cancer Predisposition Development and Potential Therapeutic Targets

  2020cites this paper
• BRIP1, a Gene Potentially Implicated in Familial Colorectal Cancer Type X

  2020cites this paper
• The molecular basis of bone marrow failure syndromes and red cell enzymopathies

  2019cites this paper
• DNA repair and neurological disease: From molecular understanding to the development of diagnostics and model organisms.

  2019cites this paper
• Genomic Analysis Does Not Support Malignant Transformation of Osteoblastoma to Osteosarcoma.

  2019cites this paper
• An Arabidopsis FANCJ helicase homologue is required for DNA crosslink repair and rDNA repeat stability

  2019cites this paper
• Holding All the Cards—How Fanconi Anemia Proteins Deal with Replication Stress and Preserve Genomic Stability

  2019cites this paper
• PARPi synthetic lethality derives from replication-associated single-stranded DNA gaps

  2019cites this paper
• Next Generation Sequencing Panel for Inherited Bone Marrow Failure Syndromes

  2019cites this paper
• DNA Repair Deficiency in Breast Cancer: Opportunities for Immunotherapy

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

  2019cites this paper
• Andrographolide induces DNA damage in prostate cancer cells

  2019cites this paper
• Helicases FANCJ, RTEL1 and BLM Act on Guanine Quadruplex DNA in Vivo

  2019cites this paper
• Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome

  2019influential citation
• Replication of G Quadruplex DNA

  2019cites this paper
• Rare BRIP1 missense alleles confer risk for ovarian and breast cancer.

  2019cites this paper
• Dental-craniofacial manifestation and treatment of rare diseases

  2019cites this paper
• IDENTIFICATION OF NOVEL FANCD 2 INTERACTING PROTEINS VIA IMMUNOPRECIPITATION AND MASS SPECTROMETRY

  2018cites this paper
• genetic association between her 2 and esr 2 polymorphisms and ovarian cancer : a meta-analysis

  2018cites this paper
• Fanconi Anemia: A Pathway of Hematopoiesis and Cancer Predisposition

  2018cites this paper
• What are the molecular consequences of germline mutations in breast and ovarian cancer susceptibility genes in a Norwegian breast and ovarian cancer population

  2018cites this paper
• Association of Single-Nucleotide Polymorphisms in Monoubiquitinated FANCD2-DNA Damage Repair Pathway Genes With Breast Cancer in the Chinese Population

  2018cites this paper
• A review of radiation genomics: integrating patient radiation response with genomics for personalised and targeted radiation therapy

  2018cites this paper
• BLM’s balancing act and the involvement of FANCJ in DNA repair

  2018cites this paper
• A guanine-flipping and sequestration mechanism for G-quadruplex unwinding by RecQ helicases

  2018cites this paper
• The therapeutic significance of mutational signatures from DNA repair deficiency in cancer

  2018cites this paper
• Hereditary predisposition to breast cancer : evaluating the role of rare copy number variant, protein-truncating and missense candidate alleles

  2018cites this paper
• Recent advances in understanding hematopoiesis in Fanconi Anemia

  2018cites this paper
• Genetic association between HER2 and ESR2 polymorphisms and ovarian cancer: a meta-analysis

  2018cites this paper
• Four common polymorphisms of BRIP1 (rs2048718, rs4988344, rs4986764, and rs6504074) and cancer risk: evidence from 13,716 cancer patients and 15,590 cancer-free controls

  2018cites this paper
• A minimal threshold of FANCJ helicase activity is required for its response to replication stress or double-strand break repair

  2018cites this paper
• Fanconi anaemia and cancer: an intricate relationship

  2018cites this paper
• Rare germline mutations in African American men diagnosed with early‐onset prostate cancer

  2018cites this paper
• Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2

  2017cites this paper
• Hematopoietic stem cell transplantation in FANCJ/BRIP1 fanconi anemia

  2017cites this paper
• The roles of Fanconi anemia genes in the regulation of follicle development.

  2017cites this paper
• Evaluation of the association between common genetic variants and breast cancer risk

  2017cites this paper
• Diagnosing Hereditary Cancer Susceptibility Through Multigene Panel Testing

  2017cites this paper
• Les défis du séquençage à haut débit dans l'exploration génétique des cancers du sein et de l'ovaire.

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

  2017cites this paper
• FANCJ helicase controls the balance between short- and long-tract gene conversions between sister chromatids

  2017cites this paper
• Identification du mécanisme de régulation de la protéine β-caténine par la protéine Fanconi-C

  2017cites this paper
• Next Generation Sequencing Panel for Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure

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

  2017cites this paper
• Chl1 DNA helicase and Scc2 function in chromosome condensation through cohesin deposition

  2017cites this paper
• Systematic identification of key genes and pathways in the development of invasive cervical cancer.

  2017cites this paper