Selection:Article Title: Understanding CLL biology through mouse models of human genetics.
Article Snippet: .. Genetically inspired mouse models of CLL and RS Mouse model Human genotype/ phenotype Onset (mo) Penetrance (%) Disease entities (as reported) Phenotype Reference MDR del (13q) 16-18 20-40 MBL, CLL, DLBCL Increased B-cell proliferation 67 MDR/Sf3b1 del (13q) 1 Sf3b1K700E 18-20 25 CLL Increased mTOR signaling 72 Sf3b1/Atm SF3B1K700E1del(11q) 18-22 10 CLL Increased DNA damage, aberrant 3' splice site selection, low BCR responsiveness 69 Ikzf3 IKZF3-L162R 16-18 40 CLL, DLBCL Increased follicular and germinal center development, high BCR responsiveness 70 Rps15 (alone or 1 Trp53) RPS15-S138F TP53-mut or del(17p) 18-20 20-30 CLL Aberrant MYC signaling 71 Xpo1 XPO1-E571K 6 (SRBC stimulated) N/A (,100%) CLL, B cell lymphomas Aberrant nuclear export 76 Dnmt3a Disordered methylation 10-16 60-100 CLL Increased B1a-cell survival, aberrant NOTCH signaling 73-75 CRISPR-multiplexed LOF in ATM, TP53, CHD2, BIRC3, MGA, SAMHD1, combined with del(13q) 9-14 60-80 CLL, CLL/RS, RS Increased DNA damage, MYC signaling 90 N/A, not applicable. ..
Methylation:Article Title: Understanding CLL biology through mouse models of human genetics.
Article Snippet: .. Genetically inspired mouse models of CLL and RS Mouse model Human genotype/ phenotype Onset (mo) Penetrance (%) Disease entities (as reported) Phenotype Reference MDR del (13q) 16-18 20-40 MBL, CLL, DLBCL Increased B-cell proliferation 67 MDR/Sf3b1 del (13q) 1 Sf3b1K700E 18-20 25 CLL Increased mTOR signaling 72 Sf3b1/Atm SF3B1K700E1del(11q) 18-22 10 CLL Increased DNA damage, aberrant 3' splice site selection, low BCR responsiveness 69 Ikzf3 IKZF3-L162R 16-18 40 CLL, DLBCL Increased follicular and germinal center development, high BCR responsiveness 70 Rps15 (alone or 1 Trp53) RPS15-S138F TP53-mut or del(17p) 18-20 20-30 CLL Aberrant MYC signaling 71 Xpo1 XPO1-E571K 6 (SRBC stimulated) N/A (,100%) CLL, B cell lymphomas Aberrant nuclear export 76 Dnmt3a Disordered methylation 10-16 60-100 CLL Increased B1a-cell survival, aberrant NOTCH signaling 73-75 CRISPR-multiplexed LOF in ATM, TP53, CHD2, BIRC3, MGA, SAMHD1, combined with del(13q) 9-14 60-80 CLL, CLL/RS, RS Increased DNA damage, MYC signaling 90 N/A, not applicable. ..
CRISPR:Article Title: Understanding CLL biology through mouse models of human genetics.
Article Snippet: .. Genetically inspired mouse models of CLL and RS Mouse model Human genotype/ phenotype Onset (mo) Penetrance (%) Disease entities (as reported) Phenotype Reference MDR del (13q) 16-18 20-40 MBL, CLL, DLBCL Increased B-cell proliferation 67 MDR/Sf3b1 del (13q) 1 Sf3b1K700E 18-20 25 CLL Increased mTOR signaling 72 Sf3b1/Atm SF3B1K700E1del(11q) 18-22 10 CLL Increased DNA damage, aberrant 3' splice site selection, low BCR responsiveness 69 Ikzf3 IKZF3-L162R 16-18 40 CLL, DLBCL Increased follicular and germinal center development, high BCR responsiveness 70 Rps15 (alone or 1 Trp53) RPS15-S138F TP53-mut or del(17p) 18-20 20-30 CLL Aberrant MYC signaling 71 Xpo1 XPO1-E571K 6 (SRBC stimulated) N/A (,100%) CLL, B cell lymphomas Aberrant nuclear export 76 Dnmt3a Disordered methylation 10-16 60-100 CLL Increased B1a-cell survival, aberrant NOTCH signaling 73-75 CRISPR-multiplexed LOF in ATM, TP53, CHD2, BIRC3, MGA, SAMHD1, combined with del(13q) 9-14 60-80 CLL, CLL/RS, RS Increased DNA damage, MYC signaling 90 N/A, not applicable. ..
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