Results 131 to 140 of about 7,414 (159)

Medulloblastoma in children with Fanconi anemia: Association with FA-D1/FA-N, SHH type and poor survival independent of treatment strategies. [PDF]

open access: yesNeuro Oncol
Sönksen M   +17 more
europepmc   +1 more source

Mutagenesis of the PALB2 WD40 domain identifies variants defective in interaction with BRCA2 and DNA repair. [PDF]

open access: yesJ Biol Chem
Gomes TT   +12 more
europepmc   +1 more source

Comprehensive genetic and epigenetic characterization of Lynch-like syndrome patients. [PDF]

open access: yesInt J Cancer
Pirini F   +18 more
europepmc   +1 more source

The Fanconi Anemia Complementation Group A Protein Contains a Peroxidase Domain

Molecular Genetics and Metabolism, 1998
Computational analysis of the Fanconi anemia (FA) complementation group A protein suggests that it contains a peroxidase domain. FA proteins may be part of a general mechanism that protects cells from oxidative damage.
I S, Mian, M J, Moser
openaire   +4 more sources

SNX5, a New Member of the Sorting Nexin Family, Binds to the Fanconi Anemia Complementation Group A Protein

Biochemical and Biophysical Research Communications, 1999
The function of the Fanconi anemia complementation group A (FANCA) protein remains unclear. To investigate possible protein-protein interactions, we performed yeast two-hybrid screening using a FANCA fragment as bait. Sorting nexin 5 (SNX5), a new member of the human SNX family, was identified as a putative FANCA-binding protein.
T, Otsuki   +3 more
openaire   +4 more sources

Intracellular Localization of the Fanconi Anemia Complementation Group A Protein

Biochemical and Biophysical Research Communications, 1999
Mutations in the Fanconi anemia (FA) complementation group A (FANCA) gene leads to bone marrow failure, developmental abnormalities and cancer predisposition. To map the intracellular site of FANCA, we constructed a plasmid vector which linked in-frame the enhanced green fluorescent protein (EGFP cDNA) to the 5' end of the FANCA cDNA (pDAS-3).
C E, Walsh, M R, Yountz, D A, Simpson
openaire   +2 more sources

Functional Analysis of the Putative Peroxidase Domain of FANCA, the Fanconi Anemia Complementation Group A Protein

Molecular Genetics and Metabolism, 2001
Fanconi anemia (FA) is an autosomal recessive disorder manifested by chromosomal breakage, birth defects, and susceptibility to bone marrow failure and cancer. At least seven complementation groups have been identified, and the genes defective in four groups have been cloned. The most common subtype is complementation group A.
J, Ren, H, Youssoufian
openaire   +2 more sources

p38 mitogen-activated protein kinase inhibition enhances in vitro erythropoiesis of Fanconi anemia, complementation group A–deficient bone marrow cells

Experimental Hematology, 2015
Bone marrow failure in Fanconi anemia (FA) has been linked in part to overproduction of inflammatory cytokines, to which FA stem and progenitor cells are hypersensitive. In cell lines and murine models p38 mitogen-activated protein kinase (MAPK)-dependent tumor necrosis factor α (TNF-α) overexpression can be induced by the Toll-like receptors (TLRs) 4 ...
Johanna, Svahn   +10 more
openaire   +2 more sources

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