Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome
about
Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsModeling the study of DNA damage responses in miceDiseases associated with defective responses to DNA damageTriple helix-interacting proteins and cancer.Interactive Roles of DNA Helicases and Translocases with the Single-Stranded DNA Binding Protein RPA in Nucleic Acid Metabolism.Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).Replication protein A: single-stranded DNA's first responder: dynamic DNA-interactions allow replication protein A to direct single-strand DNA intermediates into different pathways for synthesis or repair.RPA70 depletion induces hSSB1/2-INTS3 complex to initiate ATR signaling.Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.Protein dynamics of human RPA and RAD51 on ssDNA during assembly and disassembly of the RAD51 filament.Effect of tumor suppressor gene cyclin-dependent kinase inhibitor 2A wild-type and A148T mutant on the cell cycle of human ovarian cancer cells.The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery.RpA1 ameliorates symptoms of mutant ataxin-1 knock-in mice and enhances DNA damage repair.Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes.Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2)
P2860
Q26770859-B5E38ADE-0FDE-43BD-95C0-223BC4349682Q26826949-A8A74B71-AD51-4EC5-8B5E-9852CB7D88C6Q26997852-EBB4D392-E01D-4E2D-801B-978CF0FD0A55Q33720531-D8DFDDC7-7389-42F5-A7F5-F245CEA9E71EQ33838817-56B6CAAB-8355-4C72-89FF-6D095BC943E2Q33936237-4F844418-5D53-4E5D-97AD-0FF25E4FFC5DQ34435942-A4B1C745-3008-47D4-B058-B009C45CA32EQ35615870-BD1DA909-7C64-46D2-B22C-80A54A0ACC19Q35766412-1A6F2115-A98E-4AA0-A3D8-10DFB6D92FAEQ36208716-C5D9C82A-C0AB-4D24-A478-2DE1B483B226Q37652328-5D1BEA57-7C12-4062-937E-8274F9025F38Q38985016-6A965991-6F70-4FE5-B59E-BD5F87938944Q40341497-762356AA-D398-4D89-BC50-9E724516DE86Q41614673-D103D343-5654-4758-A451-B311E89F498FQ58736896-A35F45BE-1526-412D-82BD-E4F66A7888A0
P2860
Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome
description
2011 nî lūn-bûn
@nan
2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Increased RPA1 gene dosage aff ...... o 17p13.3 duplication syndrome
@ast
Increased RPA1 gene dosage aff ...... o 17p13.3 duplication syndrome
@en
Increased RPA1 gene dosage aff ...... o 17p13.3 duplication syndrome
@nl
type
label
Increased RPA1 gene dosage aff ...... o 17p13.3 duplication syndrome
@ast
Increased RPA1 gene dosage aff ...... o 17p13.3 duplication syndrome
@en
Increased RPA1 gene dosage aff ...... o 17p13.3 duplication syndrome
@nl
prefLabel
Increased RPA1 gene dosage aff ...... o 17p13.3 duplication syndrome
@ast
Increased RPA1 gene dosage aff ...... o 17p13.3 duplication syndrome
@en
Increased RPA1 gene dosage aff ...... o 17p13.3 duplication syndrome
@nl
P2093
P2860
P1433
P1476
Increased RPA1 gene dosage aff ...... o 17p13.3 duplication syndrome
@en
P2093
Emily Outwin
Gillian Carpenter
James R Lupski
Marjorie A Withers
P2860
P304
P356
10.1371/JOURNAL.PGEN.1002247
P407
P577
2011-08-01T00:00:00Z