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A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
Kimble DC, Lach FP, Gregg SQ, Donovan FX, Flynn EK, Kamat A, Young A, Vemulapalli M, Thomas JW, Mullikin JC, Auerbach AD, Smogorzewska A, Chandrasekharappa SC. Kimble DC, et al. Hum Mutat. 2018 Feb;39(2):237-254. doi: 10.1002/humu.23366. Epub 2017 Nov 22. Hum Mutat. 2018. PMID: 29098742 Free PMC article.
RNA analysis demonstrated that two variants (c.522G > C and c.1565A > G), predicted to encode missense variants, which were determined to be nonpathogenic by a functional assay, caused skipping of exons 5 and 16, respectively, and are most likely pathogenic. ...
RNA analysis demonstrated that two variants (c.522G > C and c.1565A > G), predicted to encode missense variants, which were det …
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
Though BM transplantation is essential for the management of the FA subjects, the telomere length can be considered as biological marker to understand the prognosis of the disease as FA subjects primarily treated with androgens....
Though BM transplantation is essential for the management of the FA subjects, the telomere length can be considered as biological marker to …
Fanconi Anemia Complementary Group A (FANCA) Facilitates the Occurrence and Progression of Liver Hepatocellular Carcinoma.
Huang FD, Zhong YP, Sun GY, Xu QJ, Xing ZY, Chen KH, Liao LS, Dong MY. Huang FD, et al. Dig Dis Sci. 2024 Mar;69(3):1035-1054. doi: 10.1007/s10620-024-08282-3. Epub 2024 Jan 28. Dig Dis Sci. 2024. PMID: 38282187
The relationship between FANCA expression and prognosis of LIHC patients were examined. Functional enrichment of FANCA-related genes was performed. ...CONCLUSIONS: Our data revealed that high level of FANCA was closely associated with LIHC malignant progression, suggesting …
The relationship between FANCA expression and prognosis of LIHC patients were examined. Functional enrichment of FANCA-related genes …
Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes.
Farah RA, Nair P, Koueik J, Yammine T, Khalifeh H, Korban R, Collet A, Khayat C, Dubois-Denghien C, Chouery E, Blanluet M, El-Hayek S, Stoppa-Lyonnet D, Megarbane A. Farah RA, et al. J Pediatr Hematol Oncol. 2021 Jul 1;43(5):e727-e735. doi: 10.1097/MPH.0000000000001909. J Pediatr Hematol Oncol. 2021. PMID: 32947577
Over a period of 17 years, 40 patients with FA were identified in 2 major diagnostic laboratories in Lebanon. Information was obtained on their clinical course and outcome from their primary physician. DNA was available in 20 patients and was studied for underlying mutatio …
Over a period of 17 years, 40 patients with FA were identified in 2 major diagnostic laboratories in Lebanon. Information was obtained on th …
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 …
From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia.
Krausz C, Riera-Escamilla A, Chianese C, Moreno-Mendoza D, Ars E, Rajmil O, Pujol R, Bogliolo M, Blanco I, Rodríguez I, Badell I, Ruiz-Castañé E, Surrallés J. Krausz C, et al. Genet Med. 2019 Jan;21(1):189-194. doi: 10.1038/s41436-018-0037-1. Epub 2018 Jun 14. Genet Med. 2019. PMID: 29904161 Free article.
PURPOSE: In about 10% of patients affected by Fanconi anemia (FA) the diagnosis is delayed until adulthood, and the presenting symptom in these "occult" FA cases is often a solid cancer and cancer treatment-related toxicity. Highly predictive clinical parameter(s) for diag …
PURPOSE: In about 10% of patients affected by Fanconi anemia (FA) the diagnosis is delayed until adulthood, and the presenting symptom in th …
Elevated FANCA expression determines a worse prognosis in chronic lymphocytic leukemia and interferes with p53 function.
Bravo-Navas S, Yáñez L, Romón Í, Pipaón C. Bravo-Navas S, et al. FASEB J. 2019 Sep;33(9):10477-10489. doi: 10.1096/fj.201802439RR. Epub 2019 Jun 28. FASEB J. 2019. PMID: 31251079
Our data identified a group of patients with CLL with high expression of FANCA in peripheral B-CLL cells and we established its relationship with the deletion of 11q23 and a worse prognosis. When we investigated the molecular mechanisms of this bad prognosis, we obs …
Our data identified a group of patients with CLL with high expression of FANCA in peripheral B-CLL cells and we established its relationship …
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 …
HSP90 Shapes the Consequences of Human Genetic Variation.
Karras GI, Yi S, Sahni N, Fischer M, Xie J, Vidal M, D'Andrea AD, Whitesell L, Lindquist S. Karras GI, et al. Cell. 2017 Feb 23;168(5):856-866.e12. doi: 10.1016/j.cell.2017.01.023. Epub 2017 Feb 16. Cell. 2017. PMID: 28215707 Free PMC article.
Whether HSP90 influences the consequences of mutations in humans, potentially modifying the clinical course of genetic diseases, remains unknown. By mining data for >1,500 disease-causing mutants, we found a strong correlation between reduced phenotypic severity and a d …
Whether HSP90 influences the consequences of mutations in humans, potentially modifying the clinical course of genetic diseases, rema …
Fanconi anemia pathway heterogeneity revealed by cisplatin and oxaliplatin treatments.
Kachnic LA, Li L, Fournier L, Willers H. Kachnic LA, et al. Cancer Lett. 2010 Jun 1;292(1):73-9. doi: 10.1016/j.canlet.2009.11.009. Epub 2010 Jan 19. Cancer Lett. 2010. PMID: 20034732
Our data add to an emerging body of evidence indicating that the FA pathway is not linear and that several protein subcomplexes with different functions exist. It will be important to establish biomarkers that can predict the sensitivity of tumors with specific FA defects …
Our data add to an emerging body of evidence indicating that the FA pathway is not linear and that several protein subcomplexes with differe …
28 results