Metazoan nuclear pore complexes in gene regulation and genome stability
DNA Repair (Amst). 2023 Sep 4;130:103565. doi: 10.1016/j.dnarep.2023.103565. Online ahead of print.ABSTRACTThe nuclear pore complexes (NPCs), one of the hallmarks of eukaryotic nuclei, allow selective transport of macromolecules between the cytoplasm and the nucleus. Besides this canonical function, an increasing number of additional roles have been attributed to the NPCs and their constituents, the nucleoporins. Here we review recent insights into the mechanisms by which NPCs and nucleoporins affect transcription and DNA repair in metazoans. In the first part, we discuss how gene expression can be affected by the localiza...
Source: DNA Repair - September 11, 2023 Category: Genetics & Stem Cells Authors: Parisa Nobari Val érie Doye Charlene Boumendil Source Type: research

Metazoan nuclear pore complexes in gene regulation and genome stability
DNA Repair (Amst). 2023 Sep 4;130:103565. doi: 10.1016/j.dnarep.2023.103565. Online ahead of print.ABSTRACTThe nuclear pore complexes (NPCs), one of the hallmarks of eukaryotic nuclei, allow selective transport of macromolecules between the cytoplasm and the nucleus. Besides this canonical function, an increasing number of additional roles have been attributed to the NPCs and their constituents, the nucleoporins. Here we review recent insights into the mechanisms by which NPCs and nucleoporins affect transcription and DNA repair in metazoans. In the first part, we discuss how gene expression can be affected by the localiza...
Source: DNA Repair - September 11, 2023 Category: Genetics & Stem Cells Authors: Parisa Nobari Val érie Doye Charlene Boumendil Source Type: research

Metazoan nuclear pore complexes in gene regulation and genome stability
DNA Repair (Amst). 2023 Sep 4;130:103565. doi: 10.1016/j.dnarep.2023.103565. Online ahead of print.ABSTRACTThe nuclear pore complexes (NPCs), one of the hallmarks of eukaryotic nuclei, allow selective transport of macromolecules between the cytoplasm and the nucleus. Besides this canonical function, an increasing number of additional roles have been attributed to the NPCs and their constituents, the nucleoporins. Here we review recent insights into the mechanisms by which NPCs and nucleoporins affect transcription and DNA repair in metazoans. In the first part, we discuss how gene expression can be affected by the localiza...
Source: DNA Repair - September 11, 2023 Category: Genetics & Stem Cells Authors: Parisa Nobari Val érie Doye Charlene Boumendil Source Type: research

Finding significance: New perspectives in variant classification of the RAD51 regulators, BRCA2 and beyond
DNA Repair (Amst). 2023 Aug 19;130:103563. doi: 10.1016/j.dnarep.2023.103563. Online ahead of print.ABSTRACTFor many individuals harboring a variant of uncertain functional significance (VUS) in a homologous recombination (HR) gene, their risk of developing breast and ovarian cancer is unknown. Integral to the process of HR are BRCA1 and regulators of the central HR protein, RAD51, including BRCA2, PALB2, RAD51C and RAD51D. Due to advancements in sequencing technology and the continued expansion of cancer screening panels, the number of VUS identified in these genes has risen significantly. Standard practices for variant c...
Source: DNA Repair - August 31, 2023 Category: Genetics & Stem Cells Authors: Hayley L Rein Kara A Bernstein Source Type: research

Finding significance: New perspectives in variant classification of the RAD51 regulators, BRCA2 and beyond
DNA Repair (Amst). 2023 Aug 19;130:103563. doi: 10.1016/j.dnarep.2023.103563. Online ahead of print.ABSTRACTFor many individuals harboring a variant of uncertain functional significance (VUS) in a homologous recombination (HR) gene, their risk of developing breast and ovarian cancer is unknown. Integral to the process of HR are BRCA1 and regulators of the central HR protein, RAD51, including BRCA2, PALB2, RAD51C and RAD51D. Due to advancements in sequencing technology and the continued expansion of cancer screening panels, the number of VUS identified in these genes has risen significantly. Standard practices for variant c...
Source: DNA Repair - August 31, 2023 Category: Genetics & Stem Cells Authors: Hayley L Rein Kara A Bernstein Source Type: research

Finding significance: New perspectives in variant classification of the RAD51 regulators, BRCA2 and beyond
DNA Repair (Amst). 2023 Aug 19;130:103563. doi: 10.1016/j.dnarep.2023.103563. Online ahead of print.ABSTRACTFor many individuals harboring a variant of uncertain functional significance (VUS) in a homologous recombination (HR) gene, their risk of developing breast and ovarian cancer is unknown. Integral to the process of HR are BRCA1 and regulators of the central HR protein, RAD51, including BRCA2, PALB2, RAD51C and RAD51D. Due to advancements in sequencing technology and the continued expansion of cancer screening panels, the number of VUS identified in these genes has risen significantly. Standard practices for variant c...
Source: DNA Repair - August 31, 2023 Category: Genetics & Stem Cells Authors: Hayley L Rein Kara A Bernstein Source Type: research

Finding significance: New perspectives in variant classification of the RAD51 regulators, BRCA2 and beyond
DNA Repair (Amst). 2023 Aug 19;130:103563. doi: 10.1016/j.dnarep.2023.103563. Online ahead of print.ABSTRACTFor many individuals harboring a variant of uncertain functional significance (VUS) in a homologous recombination (HR) gene, their risk of developing breast and ovarian cancer is unknown. Integral to the process of HR are BRCA1 and regulators of the central HR protein, RAD51, including BRCA2, PALB2, RAD51C and RAD51D. Due to advancements in sequencing technology and the continued expansion of cancer screening panels, the number of VUS identified in these genes has risen significantly. Standard practices for variant c...
Source: DNA Repair - August 31, 2023 Category: Genetics & Stem Cells Authors: Hayley L Rein Kara A Bernstein Source Type: research

Finding significance: New perspectives in variant classification of the RAD51 regulators, BRCA2 and beyond
DNA Repair (Amst). 2023 Aug 19;130:103563. doi: 10.1016/j.dnarep.2023.103563. Online ahead of print.ABSTRACTFor many individuals harboring a variant of uncertain functional significance (VUS) in a homologous recombination (HR) gene, their risk of developing breast and ovarian cancer is unknown. Integral to the process of HR are BRCA1 and regulators of the central HR protein, RAD51, including BRCA2, PALB2, RAD51C and RAD51D. Due to advancements in sequencing technology and the continued expansion of cancer screening panels, the number of VUS identified in these genes has risen significantly. Standard practices for variant c...
Source: DNA Repair - August 31, 2023 Category: Genetics & Stem Cells Authors: Hayley L Rein Kara A Bernstein Source Type: research

Finding significance: New perspectives in variant classification of the RAD51 regulators, BRCA2 and beyond
DNA Repair (Amst). 2023 Aug 19;130:103563. doi: 10.1016/j.dnarep.2023.103563. Online ahead of print.ABSTRACTFor many individuals harboring a variant of uncertain functional significance (VUS) in a homologous recombination (HR) gene, their risk of developing breast and ovarian cancer is unknown. Integral to the process of HR are BRCA1 and regulators of the central HR protein, RAD51, including BRCA2, PALB2, RAD51C and RAD51D. Due to advancements in sequencing technology and the continued expansion of cancer screening panels, the number of VUS identified in these genes has risen significantly. Standard practices for variant c...
Source: DNA Repair - August 31, 2023 Category: Genetics & Stem Cells Authors: Hayley L Rein Kara A Bernstein Source Type: research

Finding significance: New perspectives in variant classification of the RAD51 regulators, BRCA2 and beyond
DNA Repair (Amst). 2023 Aug 19;130:103563. doi: 10.1016/j.dnarep.2023.103563. Online ahead of print.ABSTRACTFor many individuals harboring a variant of uncertain functional significance (VUS) in a homologous recombination (HR) gene, their risk of developing breast and ovarian cancer is unknown. Integral to the process of HR are BRCA1 and regulators of the central HR protein, RAD51, including BRCA2, PALB2, RAD51C and RAD51D. Due to advancements in sequencing technology and the continued expansion of cancer screening panels, the number of VUS identified in these genes has risen significantly. Standard practices for variant c...
Source: DNA Repair - August 31, 2023 Category: Genetics & Stem Cells Authors: Hayley L Rein Kara A Bernstein Source Type: research

Finding significance: New perspectives in variant classification of the RAD51 regulators, BRCA2 and beyond
DNA Repair (Amst). 2023 Aug 19;130:103563. doi: 10.1016/j.dnarep.2023.103563. Online ahead of print.ABSTRACTFor many individuals harboring a variant of uncertain functional significance (VUS) in a homologous recombination (HR) gene, their risk of developing breast and ovarian cancer is unknown. Integral to the process of HR are BRCA1 and regulators of the central HR protein, RAD51, including BRCA2, PALB2, RAD51C and RAD51D. Due to advancements in sequencing technology and the continued expansion of cancer screening panels, the number of VUS identified in these genes has risen significantly. Standard practices for variant c...
Source: DNA Repair - August 31, 2023 Category: Genetics & Stem Cells Authors: Hayley L Rein Kara A Bernstein Source Type: research

Mechanistic insights from high resolution DNA damage analysis to understand mixed radiation exposure
In conclusion, early differences in response to complex DNA damage may lead to a stronger cell kill induced by fractionated exposure, which suggest a therapeutic potential of combined high and low LET irradiation.PMID:37595330 | DOI:10.1016/j.dnarep.2023.103554 (Source: DNA Repair)
Source: DNA Repair - August 18, 2023 Category: Genetics & Stem Cells Authors: Pamela Akuwudike Milagrosa L ópez-Riego J ózef Ginter Lei Cheng Anna Wieczorek Katarzyna Życieńska Ma łgorzata Łysek-Gładysińska Andrzej Wojcik Beata Brzozowska Lovisa Lundholm Source Type: research

Mechanistic insights from high resolution DNA damage analysis to understand mixed radiation exposure
In conclusion, early differences in response to complex DNA damage may lead to a stronger cell kill induced by fractionated exposure, which suggest a therapeutic potential of combined high and low LET irradiation.PMID:37595330 | DOI:10.1016/j.dnarep.2023.103554 (Source: DNA Repair)
Source: DNA Repair - August 18, 2023 Category: Genetics & Stem Cells Authors: Pamela Akuwudike Milagrosa L ópez-Riego J ózef Ginter Lei Cheng Anna Wieczorek Katarzyna Życieńska Ma łgorzata Łysek-Gładysińska Andrzej Wojcik Beata Brzozowska Lovisa Lundholm Source Type: research

Mechanistic insights from high resolution DNA damage analysis to understand mixed radiation exposure
In conclusion, early differences in response to complex DNA damage may lead to a stronger cell kill induced by fractionated exposure, which suggest a therapeutic potential of combined high and low LET irradiation.PMID:37595330 | DOI:10.1016/j.dnarep.2023.103554 (Source: DNA Repair)
Source: DNA Repair - August 18, 2023 Category: Genetics & Stem Cells Authors: Pamela Akuwudike Milagrosa L ópez-Riego J ózef Ginter Lei Cheng Anna Wieczorek Katarzyna Życieńska Ma łgorzata Łysek-Gładysińska Andrzej Wojcik Beata Brzozowska Lovisa Lundholm Source Type: research

Mechanistic insights from high resolution DNA damage analysis to understand mixed radiation exposure
In conclusion, early differences in response to complex DNA damage may lead to a stronger cell kill induced by fractionated exposure, which suggest a therapeutic potential of combined high and low LET irradiation.PMID:37595330 | DOI:10.1016/j.dnarep.2023.103554 (Source: DNA Repair)
Source: DNA Repair - August 18, 2023 Category: Genetics & Stem Cells Authors: Pamela Akuwudike Milagrosa L ópez-Riego J ózef Ginter Lei Cheng Anna Wieczorek Katarzyna Życieńska Ma łgorzata Łysek-Gładysińska Andrzej Wojcik Beata Brzozowska Lovisa Lundholm Source Type: research