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「"Rosselli F "[Author]」の検索結果

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Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine-responsive megaloblastic anemia in an Egyptian family.

Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum.

A journey with common fragile sites: from S-phase to telophase.

A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.

NOX2-dependent ATM kinase activation dictates pro-inflammatory macrophage phenotype and improves effectiveness to radiation therapy.

A never-ending story: the steadily growing family of the FA and FA-like genes.

The Spi1/PU.1 transcription factor accelerates replication fork progression by increasing PP1 phosphatase in leukemia.

Reducing the burden of suffering from eating disorders: Unmet treatment needs, cost of illness, and the quest for cost-effectiveness.

V(D)J recombination process and the Pre-B to immature B-cells transition are altered in Fanca(-/-) mice.

FANCD2 functions as a critical factor downstream of MiTF to maintain the proliferation and survival of melanoma cells.

The ubiquitin family meets the Fanconi anemia proteins.

Impaired TIP60-mediated H4K16 acetylation accounts for the aberrant chromatin accumulation of 53BP1 and RAP80 in Fanconi anemia pathway-deficient cells.

The SLX4 Complex Is a SUMO E3 Ligase that Impacts on Replication Stress Outcome and Genome Stability.

Defective endomitosis during megakaryopoiesis leads to thrombocytopenia in Fanca-/- mice.

Proteomic analysis unveils a FANCA-modulated neddylation pathway involved in CXCR5 membrane targeting and cell mobility.

Fanca deficiency reduces A/T transitions in somatic hypermutation and alters class switch recombination junctions in mouse B cells.

ERCC1 and MUS81-EME1 promote sister chromatid separation by processing late replication intermediates at common fragile sites during mitosis.

DNA synthesis by Pol η promotes fragile site stability by preventing under-replicated DNA in mitosis.

FANC Pathway Promotes UV-Induced Stalled Replication Forks Recovery by Acting Both Upstream and Downstream Polη and Rev1.

Presence of a defect in karyokinesis during megakaryocyte endomitosis.

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