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Severe telomere shortening in Fanconi anemia complementation group L.
Shah A, George M, Dhangar S, Rajendran A, Mohan S, Vundinti BR. Shah A, et al. Mol Biol Rep. 2021 Jan;48(1):585-593. doi: 10.1007/s11033-020-06101-2. Epub 2021 Jan 4. Mol Biol Rep. 2021. PMID: 33394227
Student t-test was applied to test the significance. A high frequency of chromosomal breakage was observed in all the patients compared to healthy controls. We found significantly shorter telomere length in all the three complementation groups compare to age matched health …
Student t-test was applied to test the significance. A high frequency of chromosomal breakage was observed in all the patients compar …
Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer.
Mantere T, Haanpää M, Hanenberg H, Schleutker J, Kallioniemi A, Kähkönen M, Parto K, Avela K, Aittomäki K, von Koskull H, Hartikainen JM, Kosma VM, Laasanen SL, Mannermaa A, Pylkäs K, Winqvist R. Mantere T, et al. Clin Genet. 2015 Jul;88(1):68-73. doi: 10.1111/cge.12447. Epub 2014 Jul 30. Clin Genet. 2015. PMID: 24989076
All mutations were recurrent, but no significant association with cancer susceptibility was observed for any: the prevalence of FANCI c.2957_2969del and c.3041G>A mutations was even highest in healthy males (1.7%). ...
All mutations were recurrent, but no significant association with cancer susceptibility was observed for any: the prevalence of FANCI …
Promyelocytic Leukemia Proteins Regulate Fanconi Anemia Gene Expression.
Munkhjargal A, Kim MJ, Kim DY, Jeon YJ, Kee YH, Kim LK, Kim YH. Munkhjargal A, et al. Int J Mol Sci. 2021 Jul 21;22(15):7782. doi: 10.3390/ijms22157782. Int J Mol Sci. 2021. PMID: 34360546 Free PMC article.
Further studies showed that depletion of PML reduced the protein expression of FANCA, FANCG, and FANCD2 via reduced transcriptional activity. Interestingly, we observed that damage-induced CHK1 phosphorylation was severely impaired in cells with depleted PML, and we demons …
Further studies showed that depletion of PML reduced the protein expression of FANCA, FANCG, and FANCD2 via reduced transcriptional activity …
FANCA and FANCG are the major Fanconi anemia genes in the Korean population.
Park J, Chung NG, Chae H, Kim M, Lee S, Kim Y, Lee JW, Cho B, Jeong DC, Park IY. Park J, et al. Clin Genet. 2013 Sep;84(3):271-5. doi: 10.1111/cge.12042. Clin Genet. 2013. PMID: 23067021
Four common founder mutations were identified and included two FANCA mutations (c.2546delC and c.3720_3724delAAACA) and two FANCG mutations (c.307+1G>C and c.1066C>T), which had previously been commonly observed in a Japanese FA population. We also detected four nove …
Four common founder mutations were identified and included two FANCA mutations (c.2546delC and c.3720_3724delAAACA) and two FANCG mutations …
Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG.
Reyes P, García-de Teresa B, Juárez U, Pérez-Villatoro F, Fiesco-Roa MO, Rodríguez A, Molina B, Villarreal-Molina MT, Meléndez-Zajgla J, Carnevale A, Torres L, Frias S. Reyes P, et al. Int J Mol Sci. 2022 Feb 20;23(4):2334. doi: 10.3390/ijms23042334. Int J Mol Sci. 2022. PMID: 35216452 Free PMC article.
All patients presented chromosomal instability and a homozygous PV, FANCG: c.511-3_511-2delCA, identified by next-generation sequencing analysis. Bioinformatic predictions suggest that this deletion disrupts a splice acceptor site promoting the exon 5 skipping. ...
All patients presented chromosomal instability and a homozygous PV, FANCG: c.511-3_511-2delCA, identified by next-generation sequencing anal …
Structural basis of the fanconi anemia-associated mutations within the FANCA and FANCG complex.
Jeong E, Lee SG, Kim HS, Yang J, Shin J, Kim Y, Kim J, Schärer OD, Kim Y, Yeo JE, Kim HM, Cho Y. Jeong E, et al. Nucleic Acids Res. 2020 Apr 6;48(6):3328-3342. doi: 10.1093/nar/gkaa062. Nucleic Acids Res. 2020. PMID: 32002546 Free PMC article.
FANCA and FANCG play major roles in the nuclear localization of the FA core complex. Mutations of these two genes are the most frequently observed genetic alterations in FA patients, and most point mutations in FANCA are clustered in the C-terminal domain (CTD). ...
FANCA and FANCG play major roles in the nuclear localization of the FA core complex. Mutations of these two genes are the most frequently …
Associations of complementation group, ALDH2 genotype, and clonal abnormalities with hematological outcome in Japanese patients with Fanconi anemia.
Yabe M, Koike T, Ohtsubo K, Imai E, Morimoto T, Takakura H, Koh K, Yoshida K, Ogawa S, Ito E, Okuno Y, Muramatsu H, Kojima S, Matsuo K, Mori M, Hira A, Takata M, Yabe H. Yabe M, et al. Ann Hematol. 2019 Feb;98(2):271-280. doi: 10.1007/s00277-018-3517-0. Epub 2018 Oct 27. Ann Hematol. 2019. PMID: 30368588
Fanconi anemia (FA) is a genetically and clinically heterogeneous disorder that predisposes patients to bone marrow failure (BMF), myelodysplastic syndromes (MDS), and acute myeloid leukemia (AML). To study which genetic and phenotypic factors predict clinical outcomes for …
Fanconi anemia (FA) is a genetically and clinically heterogeneous disorder that predisposes patients to bone marrow failure (BMF), myelodysp …
In silico study of missense variants of FANCA, FANCC and FANCG genes reveals high risk deleterious alleles predisposing to Fanconi anemia pathogenesis.
Shahid M, Azfaralariff A, Zubair M, Abdulkareem Najm A, Khalili N, Law D, Firasat S, Fazry S. Shahid M, et al. Gene. 2022 Feb 20;812:146104. doi: 10.1016/j.gene.2021.146104. Epub 2021 Dec 2. Gene. 2022. PMID: 34864095
The native and mutant structures were generated, which demonstrated a profound impact on the respective proteins. Besides, their pathway analysis predicted many other pathways in addition to the Fanconi anemia pathway, homologous recombination, and mismatch repair pathways …
The native and mutant structures were generated, which demonstrated a profound impact on the respective proteins. Besides, their pathway ana …
Compromised repair of radiation-induced DNA double-strand breaks in Fanconi anemia fibroblasts in G2.
Zahnreich S, Weber B, Rösch G, Schindler D, Schmidberger H. Zahnreich S, et al. DNA Repair (Amst). 2020 Dec;96:102992. doi: 10.1016/j.dnarep.2020.102992. Epub 2020 Oct 6. DNA Repair (Amst). 2020. PMID: 33069004
Despite being a DNA repair disorder syndrome and a frequently observed clinical hypersensitivity of FA patients towards ionizing radiation, the experimental evidence regarding the efficiency of radiation-induced DNA double-strand break (DSB) repair in FA is very controvers …
Despite being a DNA repair disorder syndrome and a frequently observed clinical hypersensitivity of FA patients towards ionizing radi …
A systems biology approach for elucidating the interaction of curcumin with Fanconi anemia FANC G protein and the key disease targets of leukemia.
Mahato D, Samanta D, Mukhopadhyay SS, Krishnaraj RN. Mahato D, et al. J Recept Signal Transduct Res. 2017 Jun;37(3):276-282. doi: 10.1080/10799893.2016.1225309. Epub 2016 Sep 8. J Recept Signal Transduct Res. 2017. PMID: 27608133
The key disease targets of leukemia namely tyrosine kinase (ABL1), aurora-like kinase (AUKRB), and polo-like kinase (PLK-2) showed that they had the comparable binding affinities of -9.7 k cal/mol, -8.7 k cal/mol, and -8.6 k cal/mol, respectively with curcumin. Further, the perce …
The key disease targets of leukemia namely tyrosine kinase (ABL1), aurora-like kinase (AUKRB), and polo-like kinase (PLK-2) showed that they …
41 results