HPV Enhances HNSCC Chemosensitization by Inhibiting SERPINB3 Expression to Disrupt the Fanconi Anemia Pathway
Sign Up to like & getrecommendations! Published in 2022 at "Advanced Science"
DOI: 10.1002/advs.202202437
Abstract: Head and neck squamous cell carcinoma (HNSCC) is the most common malignant tumor of the head and neck, and the prognosis of patients is poor due to chemotherapeutic resistance. Interestingly, patients with HNSCC induced by… read more here.
Keywords: anemia pathway; hpv; serpinb3 expression; hnscc ... See more keywords
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23366
Abstract: Fanconi anemia (FA) is a rare recessive DNA repair deficiency resulting from mutations in one of at least 22 genes. Two‐thirds of FA families harbor mutations in FANCA. To genotype patients in the International Fanconi… read more here.
Keywords: missense variants; fanca variants; fanconi anemia; comprehensive approach ... See more keywords
Concentration‐dependent metabolic effects of metformin in healthy and Fanconi anemia lymphoblast cells
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Cellular Physiology"
DOI: 10.1002/jcp.26085
Abstract: Metformin (MET) is the drug of choice for patients with type 2 diabetes and has been proposed for use in cancer therapy and for treating other metabolic diseases. More than 14,000 studies have been published… read more here.
Keywords: fanconi anemia; dependent metabolic; concentration dependent; concentration ... See more keywords
Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.694
Abstract: Several studies have shown a high rate of consanguinity and endogamy in North African populations. As a result, the frequency of autosomal recessive diseases is relatively high in the region with the co‐occurrence of two… read more here.
Keywords: fanconi anemia; diagnosis fanconi; anemia revealed; molecular diagnosis ... See more keywords
Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia‐like phenotype, and no chromosome fragility
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DOI: 10.1002/mgg3.863
Abstract: Biallelic BRCA1 mutations are regarded either embryonically lethal or to cause Fanconi anemia (FA), a genomic instability syndrome characterized by bone marrow failure, developmental abnormalities, and cancer predisposition. We report biallelic BRCA1 mutations c.181T >… read more here.
Keywords: cancer; brca1 mutations; fanconi anemia; breast cancer ... See more keywords
Stem Cell Therapy for Fanconi Anemia.
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DOI: 10.1007/5584_2017_67
Abstract: Stem cell therapy is the administration of stem cells to a patient to treat or prevent a disease. Since stem cells possess the long-term self-renewal capacity and provide daughter cells that differentiate into the specialized… read more here.
Keywords: stem; cell therapy; fanconi anemia; stem cell ... See more keywords
Kidney complications in 107 Fanconi anemia patients submitted to hematopoietic cell transplantation
Sign Up to like & getrecommendations! Published in 2021 at "European Journal of Pediatrics"
DOI: 10.1007/s00431-021-04263-0
Abstract: Fanconi anemia (FA) is a rare disease characterized by progressive bone marrow failure, cancer predisposition, and multiple systemic malformations, including congenital abnormalities of the kidney and urinary tract (CAKUT). Hematopoietic cell transplantation (HCT), the only… read more here.
Keywords: fanconi anemia; cell transplantation; hematopoietic cell; hypertension ... See more keywords
Severe telomere shortening in Fanconi anemia complementation group L.
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DOI: 10.1007/s11033-020-06101-2
Abstract: Fanconi Anemia (FA) is a rare genetic disease with the incidence of 1 in 360,000 and is characterised by bone marrow failure, physical abnormalities, pancytopenia, and high frequency of chromosomal breakage and increased risk of… read more here.
Keywords: telomere shortening; fanconi anemia; telomere length; severe telomere ... See more keywords
Severe Fanconi Anemia phenotypes in Fancd2 depletion mice.
Sign Up to like & getrecommendations! Published in 2019 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2019.04.201
Abstract: Fanconi anemia (FA) is a genetic disorder characterized by congenital malfunction, bone marrow failure and hypersensitivity to DNA damage. FANCD2 protein play the central role in FA pathway. To study the in vivo role of FANCD2,… read more here.
Keywords: anemia; fanconi anemia; mice; fancd2 mice ... See more keywords
Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2).
Sign Up to like & getrecommendations! Published in 2021 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2021.10.001
Abstract: Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome and a cancer predisposition disorder. Cancers in FA include acute leukemia and solid tumors; the most frequent solid tumor is head and neck… read more here.
Keywords: pathogenic variants; fanconi anemia; fancd1 brca2; fancn ... See more keywords
Inhibition of non-homologous end joining in Fanconi Anemia cells results in rescue of survival after interstrand crosslinks but sensitization to replication associated double-strand breaks.
Sign Up to like & getrecommendations! Published in 2018 at "DNA repair"
DOI: 10.1016/j.dnarep.2018.02.003
Abstract: When Fanconi Anemia (FA) proteins were depleted in human U2OS cells with integrated DNA repair reporters, we observed decreases in homologous recombination (HR), decreases in mutagenic non-homologous end joining (m-NHEJ) and increases in canonical NHEJ,… read more here.
Keywords: end joining; fanconi anemia; homologous end; replication associated ... See more keywords