Atm h1380y
WebWe have identified SNPs of the ATM gene in 5 of 14 children (S1455R, n = 1; H1380Y, n = 1; N1650S, n = 2; and 17091, n = 1). One patient had nonsense-associated altered splicing … WebSep 1, 2001 · Europe PMC is an archive of life sciences journal literature.
Atm h1380y
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Webp.H1380Y (Substitution - Missense, position 1380 ... 131873737{ATM_ENST00000452508} Tissue distribution. This section displays the distribution of mutated samples and tissue … WebA mutational analysis for ATM using genomic DNA from 14 CML cell lines and 59 CML patients in BC found a new polymorphism C4138T was discovered which results in a non-conservative amino acid substitution (H1380Y), which lies …
WebApr 9, 2024 · The ATM p.His1380Tyr variant was identified in 23 of 1184 proband chromosomes (frequency: 0.019) from individuals or families with CML, AML, ALL, … WebATM H1380Y: Gene Variant Detail: ATM H1380Y (loss of function - predicted) Relevant Treatment Approaches: Olaparib ... in a partial response with a 69% decrease in tumor size in a patient with renal collecting duct carcinoma harboring ATM protein loss, treatment was ongoing at 385 days (PMID: 32988960; NCT03188965).
WebJan 1, 2024 · The most important part was the 29 gene panel. They tested 29 genes implicated in CLL and found I have an MYD88 M232T mutation. This is not as bad as the L265P mutation, but a published in vitro study with cell line does show that the M232T mutation tends to increase the NFkappaB activation. They also found a germline ATM … WebATM H1380Y: Gene Variant Detail: ATM H1380Y (loss of function - predicted) Relevant Treatment Approaches: Olaparib ... castration-resistant prostate cancer patients harboring an ATM inactivating mutation responded to Lynparza (olaparib) (PMID: 26510020). 26510020 ATM inact mut prostate cancer sensitive Olaparib
WebWe performed a mutational analysis for ATM in CML using genomic DNA from 14 CML cell lines and 59 CML patients in BC. No clearly deleterious nucleotide changes were …
WebA new polymorphism C4138T was discovered which results in a non-conservative amino acid substitution (H1380Y). This variant lies in the Atm recognition motif for the Abl protein. While ATM is unlikely to contribute substantially to CML, further investigation of the H1380Y substitution should clarify whether it has any functional effect. hirsch merino speedmasterWebAug 9, 2001 · Three additional ATM mutations were detected in this set of cases, two predicted to result in amino acid substitutions, H1380Y and G2024R and one, R2034X, predicted to result in protein truncation. None of these ATM mutations occurred in patients with known disease-associated mutations in either BRCA1 or BRCA2. hirsch mehta cardiologistWebApr 19, 2024 · ATM:ATM serine/threonine kinase [ Gene - OMIM - HGNC] Variant type: single nucleotide variant Cytogenetic location: 11q22.3 Genomic location: Chr11: … hirsch metallwarenWebATM H1380Y lies within the c-Abl binding domain of the Atm protein ( PMID: 12969974 ). H1380Y results in defective c-Abl activation upon irradiation in cultured cells ( PMID: … hirsch medical libraryWebJan 1, 2004 · This finding is probably a result of a dominant-negative effect of the H1380Y mutation, which is localized within the predicted c-Abl binding domain (amino acids 1372-1383) of ATM, and suggests that the interaction between H1380Y ATM and c-Abl protein is impaired. 29,30 These questions would be addressed by further studies of the function of ... hirsch merino strap speedmasterWebOct 1, 2001 · A new polymorphism C4138T was discovered which results in a non-conservative amino acid substitution (H1380Y). This variant lies in the Atm recognition … hirsch medical library tuftsWebWe performed a mutational analysis for ATM in CML using genomic DNA from 14 CML cell lines and 59 CML patients in BC. No clearly deleterious nucleotide changes were … homes recently sold in oakdale ca