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GENE:

FAAP24 (FA Core Complex Associated Protein 24)

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Other names: FAAP24, FA Core Complex Associated Protein 24, C19orf40, Fanconi Anemia Core Complex Associated Protein 24, Fanconi Anemia Core Complex-Associated Protein 24, Fanconi Anemia-Associated Protein Of 24 KDa, FLJ46828, MGC32020, Fanconi Anemia-Associated Protein, 24kDa, Chromosome 19 Open Reading Frame 40
Associations
Trials
7ms
A Novel C19orf47-AKT2 Chimeric RNA Generated by Cis-Splicing of Adjacent Genes Is Associated With Glioblastoma Prognosis. (PubMed, Ann Clin Transl Neurol)
This study identifies novel C19orf47-AKT2 chimeras formed through cis-splicing, which might function as noncoding RNAs to promote glioblastoma proliferation. These chimeras may serve as potential prognostic markers and therapeutic targets in gliomas.
Journal
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AKT2 (V-akt murine thymoma viral oncogene homolog 2) • FAAP24 (FA Core Complex Associated Protein 24)
9ms
Structural basis of Fanconi anemia pathway activation by FANCM. (PubMed, EMBO J)
The N-terminal translocase domain specifically recognizes DNA junctions through multiple key elements, while the C-terminal FAAP24-binding domain engages adjacent double-stranded DNA. Our results reveal how FANCM evolved from an ancient DNA repair motor into a sophisticated sensor that couples DNA damage recognition to selective pathway activation, providing a structural framework for developing targeted therapeutics.
Journal
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BRCA1 (Breast cancer 1, early onset) • FANCI (FA Complementation Group I) • FANCM (FA Complementation Group M) • RAD52 (RAD52 Homolog DNA Repair Protein) • FANCD2 (FA Complementation Group D2) • FAAP24 (FA Core Complex Associated Protein 24)
1year
CRISPR/Cas9 screens identify LIG1 as a sensitizer of PARP inhibitors in castration-resistant prostate cancer. (PubMed, J Clin Invest)
Importantly, the sensitivity of LIG1-deficient cells to PARPi was confirmed in vivo. Altogether, our results argue for the relevance of determining the status of LIG1, and potentially other non-HRR DRG for CRPC patient stratification and provide evidence to expand their therapeutic options.
Journal
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HRD (Homologous Recombination Deficiency) • LRIG1 (Leucine Rich Repeats And Immunoglobulin Like Domains 1) • FAAP24 (FA Core Complex Associated Protein 24)
1year
Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers. (PubMed, Int J Cancer)
In the nine whole-exome sequenced patients, eight harbored at least two candidate DNA repair/cell cycle/TGFβ signaling gene variants. The number of families is too small to provide evidence for individual variants but, considering the known role of DNA repair/cell cycle genes in CRC, the clustering of multiple deleterious variants in the present families suggests that these, perhaps jointly, contributed to CRC development in these families.
Journal
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CHEK2 (Checkpoint kinase 2) • FANCI (FA Complementation Group I) • RECQL5 (RecQ Like Helicase 5) • RRM2 (Ribonucleotide Reductase Regulatory Subunit M2) • RECQL (RecQ Like Helicase) • XRCC1 (X-Ray Repair Cross Complementing 1) • FAAP24 (FA Core Complex Associated Protein 24)
over1year
Somatic gene mutations involved in DNA damage response/Fanconi anemia signaling are tissue- and cell-type specific in human solid tumors. (PubMed, Front Med (Lausanne))
Furthermore, these gene alteration patterns significantly impact patient survival and disease-free periods. Collectively, our findings not only enhance our understanding of cancer development and progression but also have significant implications for cancer patient care and prognosis, particularly in the development of effective therapeutic strategies.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • FANCF (FA complementation group F) • FANCL (FA Complementation Group L) • XRCC2 (X-Ray Repair Cross Complementing 2) • ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit) • FANCI (FA Complementation Group I) • FANCM (FA Complementation Group M) • MAD2L2 (Mitotic Arrest Deficient 2 Like 2) • FANCD2 (FA Complementation Group D2) • FANCE (FA Complementation Group E) • FANCG (FA Complementation Group G) • FAAP24 (FA Core Complex Associated Protein 24) • FANCB (FA Complementation Group B) • FANCC (FA Complementation Group C) • SLX4 (SLX4 Structure-Specific Endonuclease Subunit)
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ATM mutation
almost2years
Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants. (PubMed, Immunol Res)
In this study, we report the identification of 38 disease-causing variants, including 16 novel ones, detected in 40 patients across 15 distinct PIRD genes. The application of next-generation sequencing enabled rapid and precise diagnosis of patients with PIRDs.
Journal • IO biomarker
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CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) • JAK1 (Janus Kinase 1) • STAT3 (Signal Transducer And Activator Of Transcription 3) • IL2RA (Interleukin 2 receptor, alpha) • CD70 (CD70 Molecule) • FASLG (Fas ligand) • TNFRSF9 (TNF Receptor Superfamily Member 9) • FADD (Fas associated via death domain) • IL10 (Interleukin 10) • CD27 (CD27 Molecule) • CASP8 (Caspase 8) • TGFB1 (Transforming Growth Factor Beta 1) • FAS (Fas cell surface death receptor) • FERMT1 (Fermitin Family Member 1) • FOXP3 (Forkhead Box P3) • XIAP (X-Linked Inhibitor Of Apoptosis) • BACH2 (BTB Domain And CNC Homolog 2) • PRF1 (Perforin 1) • RASGRP1 (RAS Guanyl Releasing Protein 1) • RIPK1 (Receptor Interacting Serine/Threonine Kinase 1) • UNC13D (Unc-13 Homolog D) • CASP10 (Caspase 10) • CTPS1 (CTP Synthase 1) • FAAP24 (FA Core Complex Associated Protein 24) • RAB27A (RAB27A, Member RAS Oncogene Family) • STXBP2 (Syntaxin Binding Protein 2)
2years
Overexpression of C19orf48 correlates with poor prognosis in breast cancer. (PubMed, Afr Health Sci)
In conclusion, c19orf48 may be a useful and predictive biomarker for the prognosis of breast cancer patients. To the best of our knowledge, this is the first report describing the expression of c19orf48, the potential driving factor led to this and its effect.
Journal
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FAAP24 (FA Core Complex Associated Protein 24)
over2years
Integrated bioinformatics approaches to investigate alterations in transcriptomic profiles of monkeypox infected human cell line model. (PubMed, J Infect Public Health)
This study can improve our understanding of the mechanisms underlying the pathophysiology and post-infection sequelae of mpox. Our findings provide valuable insights into the various modes of MPV infection.
Preclinical • Journal
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IL6 (Interleukin 6) • TNFA (Tumor Necrosis Factor-Alpha) • HIF1A (Hypoxia inducible factor 1, alpha subunit) • CXCL8 (Chemokine (C-X-C motif) ligand 8) • CA9 (Carbonic anhydrase 9) • FAS (Fas cell surface death receptor) • TLR3 (Toll Like Receptor 3) • CD40 (CD40 Molecule) • MMP1 (Matrix metallopeptidase 1) • TACC2 (Transforming Acidic Coiled-Coil Containing Protein 2) • FAAP24 (FA Core Complex Associated Protein 24) • ENDOD1 (Endonuclease Domain Containing 1)
over2years
High FAAP24 expression reveals poor prognosis and an immunosuppressive microenvironment shaping in AML. (PubMed, Cancer Cell Int)
In summary, FAAP24 is a promising prognostic biomarker in AML that requires further exploration and confirmation.
Journal
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FAAP24 (FA Core Complex Associated Protein 24)