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FANCD2 - My Cancer Genome
WEBThe most common alterations in FANCD2 are FANCD2 Mutation (2.07%), FANCD2 X426_splice (52.66%), FANCD2 Nonsense (0.18%), FANCD2 Amplification (0.23%), and FANCD2 D645Y (0.07%) .
FANCD2 FA complementation group D2 [ (human)] - National …
WEBMutations in FANCI that impair its DNA binding activity compromise DNA-stimulated FANCD2 monoubiquitination. Results document a novel role of an inactivated …
The Fanconi Anemia/BRCA Pathway: FANCD2 at the …
WEBAvailable data indicate that FANCD2 is involved in cell cycle regulation and DNA repair. Our current knowledge on the functional significance of FA …
- Author: Massimo Bogliolo, Jordi Surrallés
- Published: 2013
- Publish Year: 2013
- Studies of fancd2 gene mutation
FANCD2 - Wikipedia
Fanconi anemia is a disorder with a recessive Mendelian pattern of inheritance characterized by chromosomal instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein co…
Wikipedia · Text under CC-BY-SA license- Estimated Reading Time: 6 mins
FANCD2 Gene - GeneCards | FACD2 Protein | FACD2 Antibody
WEBAug 6, 2024 · This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci …
FANCD2 and DNA Damage - PubMed
WEBAug 19, 2017 · Among those studies, FA group D2 protein (FANCD2) has emerged as the focal point of FA signaling and plays crucial roles in multiple aspects of cellular life, …
Hypomorphic Mutations in the Gene Encoding a Key Fanconi …
WEBApr 6, 2007 · In contrast to all other FA genes, (1) the mutation spectrum of FANCD2 is dominated by splicing mutations, and (2) residual FANCD2 protein exists in all tested …
Deciphering the role of post-translational modifications in fanconi ...
WEBJun 15, 2024 · Fanconi anemia (FA) is an autosomal or X-linked human disease, characterized by bone marrow failure, cancer susceptibility and various developmental …
The FANCI/FANCD2 complex links DNA damage response to R …
WEBJan 23, 2024 · The central FA protein complex FANCI/FANCD2 (ID2) is activated by monoubiquitination and recruits DNA repair proteins for interstrand crosslink (ICL) repair …
Differential functions of FANCI and FANCD2
WEBJun 8, 2020 · A FA patient mutation in FANCI, R1285Q, which reduces ubiquitination of the ID2 complex 20, has been suggested to reduce both FANCI and ID2 DNA binding, as well as FANCI interaction with …
FANCD2–FANCI is a clamp stabilized on DNA by
WEBFeb 17, 2020 · Numerous factors involved in crosslink repair have been identified, and mutations in their corresponding genes cause Fanconi anemia (FA). A key step in crosslink repair is monoubiquitination...
FANCD2 Gene - Somatic Mutations in Cancer - Wellcome …
WEBFANCD2 - Explore an overview of FANCD2, with a histogram displaying coding mutations, full tabulated details of all associated variants, tissue distribution and any drug …
The DNA-damage kinase ATR activates the FANCD2-FANCI …
WEBSep 1, 2022 · These results show that phosphomimetic mutations in FANCI stimulate FANCD2 monoubiquitination by the FA core complex in vitro. Phosphomimetic …
Mechanism, specificity, and function of FANCD2-FANCI
WEBFanconi anemia (FA) is a rare genetic disorder caused by mutations in any of the currently 22 known FA genes. The products of these genes, along with other FA-associated …
FANCD2 and DNA Damage - PMC - National Center for …
WEBAug 19, 2017 · To date, 22 corresponding FA genes have been identified, and their biallelic germline mutations account for the occurrence of FA with the exception of FANCB and …
The identification of FANCD2 DNA binding domains reveals
WEBAug 21, 2017 · Mutations in the bifunctional DNA binding/NLS domain lead to a reduction in FANCD2 monoubiquitination and increase in mitomycin C sensitivity. Such phenotypes …
FANCI and FANCD2 have common as well as independent …
WEBOct 20, 2017 · Sequence analysis of the targeted region was used to confirm that both clones had CRISPR/Cas9-induced bi-allelic frameshift mutations in FANCD2, …
Clinical importance of FANCD2, BRIP1, BRCA1, BRCA2 and …
WEBMar 1, 2019 · The FANCD2, BRIP1, BRCA1/ 2, and FANCF genes are involved in homologous recombination DNA repair, which implicates their possible role in cell …
Characterization of FANCL variants observed in patient cancer cells
WEBJun 26, 2020 · Fanconi Anemia (FA) is a rare genetic disorder characterized by developmental defects, bone marrow failure and high predisposition to cancer. The FA …
FANCD2 maintains replication fork stability during ... - Nature
WEBMay 27, 2022 · Fanconi anemia (FA) is a rare hereditary disorder caused by mutations in any one of the FANC genes. FA cells are mainly characterized by extreme …
Hypomorphic Mutations in the Gene Encoding a Key Fanconi …
WEBFANCD2 is flanked by two pseudogenes. Mutation analysis revealed the expected total of 66 mutated alleles, 34 of which result in aberrant splicing patterns. Many mutations are …
FANCD2 Gene - Somatic Mutations in Cancer - Wellcome …
WEBFANCD2 - Explore an overview of FANCD2, with a histogram displaying coding mutations, full tabulated details of all associated variants, tissue distribution and any drug …
Heterozygote FANCD2 mutations associated with childhood T …
WEBFA is caused by mutations in any of so far 15 identified FANC genes, which encode proteins that interact in a common DNA damage response (DDR) pathway. Individuals …
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