scholarly journals Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

2014 ◽  
Vol 46 (11) ◽  
pp. 1239-1244 ◽  
Author(s):  
Davor Lessel ◽  
Bruno Vaz ◽  
Swagata Halder ◽  
Paul J Lockhart ◽  
Ivana Marinovic-Terzic ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Genomic Instability ◽  
Early Onset

scholarly journals Deletion of Topoisomerase 1 in excitatory neurons causes genomic instability and early onset neurodegeneration

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
Giulia Fragola ◽  
Angela M. Mabb ◽  
Bonnie Taylor-Blake ◽  
Jesse K. Niehaus ◽  
William D. Chronister ◽  
...  
Keyword(s):  
Genomic Instability ◽  
Early Onset ◽  
Topoisomerase 1 ◽  
Excitatory Neurons

scholarly journals Targeting TPX2 Suppresses the Tumorigenesis of Hepatocellular Carcinoma Cells Resulting in Arrested Mitotic Phase Progression and Increased Genomic Instability

2017 ◽  
Vol 8 (8) ◽  
pp. 1378-1394 ◽  
Author(s):  
Chao-Wen Hsu ◽  
Yu-Chia Chen ◽  
Hsing-Hao Su ◽  
Guan-Jin Huang ◽  
Chih-Wen Shu ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Genomic Instability ◽  
Carcinoma Cells ◽  
Hepatocellular Carcinoma Cells ◽  
Phase Progression

scholarly journals Novel Association of Early Onset Hepatocellular Carcinoma with Transaldolase Deficiency

2013 ◽  
pp. 121-127 ◽  
Author(s):  
Charles A. LeDuc ◽  
Elizabeth E. Crouch ◽  
Ashley Wilson ◽  
Jay Lefkowitch ◽  
Mirjam M. C. Wamelink ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Early Onset ◽  
Novel Association

549 Tyrosinemia Without Succinylacetone: Modeling a Novel Mutation in FAH in Family With Early Onset Cirrhosis and Hepatocellular Carcinoma

2015 ◽  
Vol 148 (4) ◽  
pp. S-111
Author(s):  
Patrick Blackburn ◽  
Raymond Hickey ◽  
Rebecca Nace ◽  
Nasra H. Giama ◽  
Roongruedee Chaiteerakij ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Early Onset ◽  
Novel Mutation

scholarly journals Quantitative evaluation of genomic instability as a possible predictor for development of hepatocellular carcinoma: Comparison of loss of heterozygosity and replication error

Hepatology ◽  
2000 ◽  
Vol 31 (6) ◽  
pp. 1246-1250 ◽  
Author(s):  
Hirokazu Kawai ◽  
Takeshi Suda ◽  
Yutaka Aoyagi ◽  
Osamu Isokawa ◽  
Yusaku Mita ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Genomic Instability ◽  
Loss Of Heterozygosity ◽  
Quantitative Evaluation ◽  
Replication Error

scholarly journals Genomic instability and early-onset colorectal cancer: a new form of classifying the disease?

2016 ◽  
Vol 27 ◽  
pp. vi185
Author(s):  
M. Arriba ◽  
J.L. García ◽  
J.M. Cano ◽  
D. Rueda ◽  
J. Pérez ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genomic Instability ◽  
Early Onset ◽  
New Form ◽  
Early Onset Colorectal Cancer

Genome-wide identification of blood DNA methylation patterns associated with early-onset hepatocellular carcinoma development in hepatitis B carriers

2016 ◽  
Vol 56 (2) ◽  
pp. 425-435 ◽  
Author(s):  
Wei-Yi Kao ◽  
Shu-Han Yang ◽  
Wen-Jie Liu ◽  
Meng-Yin Yeh ◽  
Chih-Lin Lin ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Dna Methylation ◽  
Hepatitis B ◽  
Early Onset ◽  
Genome Wide ◽  
Methylation Patterns

Risk Factors for Early-Onset and Late-Onset Hepatocellular Carcinoma in Asian Immigrants With Hepatitis B in the United States

2011 ◽  
Vol 106 (11) ◽  
pp. 1994-2000 ◽  
Author(s):  
David W Wan ◽  
Demetrios Tzimas ◽  
Joshua A Smith ◽  
Sunnie Kim ◽  
James Araujo ◽  
...  
Keyword(s):  
United States ◽  
Risk Factors ◽  
Hepatocellular Carcinoma ◽  
Hepatitis B ◽  
Early Onset ◽  
Late Onset ◽  
The United States ◽  
Asian Immigrants

scholarly journals S1884 Comparison of Early-Onset and Later-Onset Hepatocellular Carcinoma in Asian Patients With Hepatitis B in the United States: the Bellevue Experience

2010 ◽  
Vol 138 (5) ◽  
pp. S-809
Author(s):  
David W. Wan ◽  
Sunnie Kim ◽  
James L. Araujo ◽  
Demetrios Tzimas ◽  
Joshua A. Smith ◽  
...  
Keyword(s):  
United States ◽  
Hepatocellular Carcinoma ◽  
Hepatitis B ◽  
Early Onset ◽  
The United States ◽  
Asian Patients

scholarly journals Ablating Ku70 phosphorylation results in defective DNA damage repair and spontaneous induction of hepatocellular carcinoma

2021 ◽  
Author(s):  
Janapriya Saha ◽  
Jinsung Bae ◽  
Shih-Ya Wang ◽  
Lori J. Chappell ◽  
Purva Gopal ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Dna Damage ◽  
Genomic Instability ◽  
Dna Damage Repair ◽  
Strand Break ◽  
Damage Repair ◽  
Dna End Resection ◽  
Non Homologous End Joining ◽  
Transformed Cell Lines ◽  
Dna Ends

SUMMARYMultiple pathways mediate the repair of DNA double-strand break (DSB), with numerous mechanisms responsible for driving choice between the pathways. Previously, we reported that phosphorylation of the non-homologous end joining (NHEJ) factor, Ku70, is required for the dissociation of the Ku heterodimer from DNA ends to allow DSB repair via homologous recombination (HR). A knock-in mouse, in which phosphorylation is ablated in the three conserved sites of Ku70 (Ku703A/3A), was generated in order to test the hypothesis that Ku70 phosphorylation is required for initiation of HR and that blocking this process results in enhanced genomic instability and tumorigenesis. Here, we show that Ku703A/3A mice develop spontaneous and have accelerated chemical-induced hepatocellular carcinoma (HCC) compared to wild-type (Ku70+/+) littermates. The HCC tumors from the Ku703A/3A mice have increased γH2AX and 8-oxo-G staining, suggesting DNA repair is decreased in these mice. Spontaneous transformed cell lines from Ku703A/3A mice are more radiosensitive, have a significant decrease in DNA end resection, and are more sensitive to the DNA cross-linking agent mitomycin C compared to cells from Ku70+/+ littermates. Collectively, these findings demonstrate that phosphorylation-mediated dissociation of Ku heterodimer from DNA ends is required for efficient DNA damage repair and disruption of this process results in genomic instability and accelerated development of HCC.

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