about
A guide for functional analysis of BRCA1 variants of uncertain significancePathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approachFunctional impact of missense variants in BRCA1 predicted by supervised learningProbing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1BRCA1 Circos: a visualisation resource for functional analysis of missense variants.Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.DNA repair genes PAXIP1 and TP53BP1 expression is associated with breast cancer prognosis.The P1812A and P25T BRCA1 and the 5164del4 BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews.Synthetic Organotellurium Compounds Sensitize Drug-Resistant Candida albicans Clinical Isolates to Fluconazole.The Role of PALB2 in the DNA Damage Response and Cancer Predisposition.The capacity of connective tissue stromas to sustain myelopoiesis depends both upon the growth factors and the local intercellular environment.Correction: functional analysis of BRCA1 M1628V variant.Stroma-mediated granulocyte-macrophage colony-stimulating factor (GM-CSF) control of myelopoiesis: spatial organisation of intercellular interactions.Acidic pH modulates the interaction between human granulocyte-macrophage colony-stimulating factor and glycosaminoglycans.A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressorFunctional characterization of 84 PALB2 variants of uncertain significanceImpact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation
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description
researcher, ORCID id # 0000-0002-7053-0053
@en
wetenschapper
@nl
name
Marcelo A Carvalho
@ast
Marcelo A Carvalho
@en
Marcelo A Carvalho
@es
Marcelo A Carvalho
@nl
type
label
Marcelo A Carvalho
@ast
Marcelo A Carvalho
@en
Marcelo A Carvalho
@es
Marcelo A Carvalho
@nl
altLabel
Marcelo Carvalho
@en
prefLabel
Marcelo A Carvalho
@ast
Marcelo A Carvalho
@en
Marcelo A Carvalho
@es
Marcelo A Carvalho
@nl
P1053
J-7144-2012
P106
P21
P31
P496
0000-0002-7053-0053