Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.S343A
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NBN

NM_002485.5:p.S343A

Associated Papers

GLI1 Inhibitor SRI-38832 Attenuates Chemotherapeutic Resistance by Downregulating NBS1 Transcription in BRAFV600E Colorectal Cancer.

Zhang R et al.

Frontiers in Oncology, 2020

NBS1 interacts with HP1 to ensure genome integrity.

Bosso G et al.

Cell Death & Disease, 2019

Hsp90α regulates ATM and NBN functions in sensing and repair of DNA double-strand breaks.

Pennisi R et al.

The Febs Journal, 2017

ATM-Dependent Phosphorylation of All Three Members of the MRN Complex: From Sensor to Adaptor.

Lavin MF et al.

Biomolecules, 2015

Point mutation at the Nbs1 Threonine 278 site does not affect mouse development, but compromises the Chk2 and Smc1 phosphorylation after DNA damage.

Li T et al.

Mechanisms of Ageing and Development, 2011

NBS1 regulates a novel apoptotic pathway through Bax activation.

Iijima K et al.

Dna Repair, 2008

NBS1 prevents chromatid-type aberrations through ATM-dependent interactions with SMC1.

Antoccia A et al.

Radiation Research, 2008

Activation and regulation of ATM kinase activity in response to DNA double-strand breaks.

Lee JH et al.

Oncogene, 2007

NBS1 mediates ATR-dependent RPA hyperphosphorylation following replication-fork stall and collapse.

Manthey KC et al.

Journal of Cell Science, 2007

TopBP1 associates with NBS1 and is involved in homologous recombination repair.

Morishima K et al.

Biochemical and Biophysical Research Communications, 2007

The NBS1-ATM connection revisited.

Difilippantonio S et al.

Cell Cycle (georgetown, Tex.), 2007

Homologous recombination repair is regulated by domains at the N- and C-terminus of NBS1 and is dissociated with ATM functions.

Sakamoto S et al.

Oncogene, 2007

The Mre11-Rad50-Nbs1 complex acts both upstream and downstream of ataxia telangiectasia mutated and Rad3-related protein (ATR) to regulate the S-phase checkpoint following UV treatment.

Olson E et al.

The Journal of Biological Chemistry, 2007

SIRT1 regulates the function of the Nijmegen breakage syndrome protein.

Yuan Z et al.

Molecular Cell, 2007

Distinct domains in Nbs1 regulate irradiation-induced checkpoints and apoptosis.

Difilippantonio S et al.

The Journal of Experimental Medicine, 2007

Molecular mechanism of the recruitment of NBS1/hMRE11/hRAD50 complex to DNA double-strand breaks: NBS1 binds to gamma-H2AX through FHA/BRCT domain.

Kobayashi J

Journal of Radiation Research, 2004

The Mre11 complex and ATM: a two-way functional interaction in recognising and signaling DNA double strand breaks.

Lavin MF

Dna Repair, 2004

Homologous recombination generates T-loop-sized deletions at human telomeres.

Wang RC et al.

Cell, 2004

Independent roles for nibrin and Mre11-Rad50 in the activation and function of Atm.

Cerosaletti K et al.

The Journal of Biological Chemistry, 2004

The DNA crosslink-induced S-phase checkpoint depends on ATR-CHK1 and ATR-NBS1-FANCD2 pathways.

Pichierri P et al.

The Embo Journal, 2004

Telomere instability in a human tumor cell line expressing NBS1 with mutations at sites phosphorylated by ATM.

Bai Y et al.

Molecular Cancer Research : Mcr, 2003

Suppression of Tousled-like kinase activity after DNA damage or replication block requires ATM, NBS1 and Chk1.

Krause DR et al.

Oncogene, 2003

Nibrin forkhead-associated domain and breast cancer C-terminal domain are both required for nuclear focus formation and phosphorylation.

Cerosaletti KM et al.

The Journal of Biological Chemistry, 2003

Ataxia-telangiectasia-mutated (ATM) and NBS1-dependent phosphorylation of Chk1 on Ser-317 in response to ionizing radiation.

Gatei M et al.

The Journal of Biological Chemistry, 2003

The Fanconi anaemia/BRCA pathway.

D'Andrea AD et al.

Nature Reviews. Cancer, 2003

Interaction of FANCD2 and NBS1 in the DNA damage response.

Nakanishi K et al.

Nature Cell Biology, 2002

Functional analysis of FHA and BRCT domains of NBS1 in chromatin association and DNA damage responses.

Zhao S et al.

Nucleic Acids Research, 2002

NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain.

Kobayashi J et al.

Current Biology : Cb, 2002

SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint.

Yazdi PT et al.

Genes & Development, 2002

Chk2 activation dependence on Nbs1 after DNA damage.

Buscemi G et al.

Molecular and Cellular Biology, 2001

Convergence of DNA repair and cell-cycle checkpoint control.

Eggleston A

Nature Cell Biology, 2000

Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products.

Zhao S et al.

Nature, 2000

ATM-dependent phosphorylation of nibrin in response to radiation exposure.

Gatei M et al.

Nature Genetics, 2000

Interactions of the Nijmegen breakage syndrome protein with ATM and BRCA1.

Wu X et al.

Cold Spring Harbor Symposia on Quantitative Biology, 2000

NBS1 and its functional role in the DNA damage response.

Kobayashi J et al.

Dna Repair, 0

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