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Atm h1380y

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 … WebJan 1, 2004 · The ATM kinase encoded by ATM containing the SNP 4138C>T (amino acid change H1380Y) in LCL-HD4 exhibited normal p53 phosphorylation activity (data not …

Mutation overview page ADAM11 - p.S766= ( Substitution

WebAug 1, 2015 · A mutation of ATM (H1380Y) was reported in a chronic myeloid leukemia (CML) cell line 50 and in a pediatric patient with Hodgkin disease. 30 Melo et al 29 … WebApr 19, 2024 · ATM:ATM serine/threonine kinase [ Gene - OMIM - HGNC] Variant type: single nucleotide variant Cytogenetic location: 11q22.3 Genomic location: Chr11: … gough kelly leeds https://madebytaramae.com

Detection of Rare Variant of SS18-SSX1 Fusion Gene and …

WebWe therefore sought to identify SNPs of the ATM gene in pediatric Hodgkin disease (HD) and to analyze ATM function in cells from patients with these SNPs. We have identified SNPs of the ATM gene in 5 of 14 children (S1455R, n = 1; H1380Y, n = 1; N1650S, n = 2; and I709I, n = 1). One patient had nonsense-associated altered splicing of the ATM gene. WebGene: ATM Variant: H1380Y: Impact List: missense: Protein Effect: loss of function - predicted: Gene Variant Descriptions: ATM 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: 12969974), and therefore, is predicted to lead to a loss … WebSep 11, 2003 · Europe PMC is an archive of life sciences journal literature. Search life-sciences literature (Over 39 million articles, preprints and more) gough lackford

Gene Variant Detail

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Atm h1380y

(PDF) Investigation on the role of the ATM gene in chronic …

WebSep 28, 2001 · We 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 … WebSep 1, 2001 · Europe PMC is an archive of life sciences journal literature.

Atm h1380y

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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, … WebJan 1, 2004 · One patient had nonsense-associated altered splicing of the ATM gene. Lymphoblastoid cell lines expressing the S1455R and N1650S exhibited defective ATM …

WebH1380Y or L1420Faffect the interactionofthe Abl with the Atmprotein.Itwillalsobeofinteresttotestthefrequencyof … WebSep 24, 2015 · rs3092856, known as H1380Y rs1800058, known as L1420F rs1801673, known as D1853V rs664143, known as IVS62+60G>A Category: Is a gene

WebAug 1, 2015 · Takagi et al 30 identified 4 single-nucleotide polymorphisms (SNPs), including H1380Y, and 1 nonsense-associated altered splicing of ATM and suggested that such SNPs might be more susceptible to genomic instability in the frequencies of these SNPs. WebATM missense H1380Y 0 25 13062 0 5 5483 2.100.80-5.48 0.12 ATM intron NA 0 25 13062 0 5 5483 2.100.80-2.48 0.12 ATM upstream NA 0 25 13062 0 5 5483 2.100.80-2.48 0.12 ATM intron NA 0 11 13076 0 9 5479 0.510.21-1.24 0.13 ATM intron NA 0 31 13056 0 7 5481 1.860.82-4.22 0.13 ATM missense D1853V 0 133 12954 0 43 5445 1.290.92-1.83 0.14

http://journal.waocp.org/article_31924_572ca8bed65145328842a92bd3d5cca8.pdf

WebOct 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 … gough kevinWebSignificance of ATM ene Polymorphisms in Chronic Myeloid Leukemia - a Case Control Study from India Asian Pac J Cancer Prev, 17 (2), 815-821 Introduction ... In silico analysis of the ATM C4138T (H1380Y) Figure 1. HapMap of ATM -5144A>T Polymorphism for Different Populations gough knives bladeforumsWebWe 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 … child mattress onlineWeb377 rows · ATM 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 ( … child mattress dimensions chartWebApr 1, 2001 · However, there is evidence that some ATM germline variants recur as somatic mutations. 24 It will be of interest to determine if either H1380Y or L1420F affect the interaction of the Abl with... child mattress buying guideWebOne patient had nonsense-associated altered splicing of the ATM gene. Lymphoblastoid cell lines expressing the S1455R and N1650S exhibited defective ATM-mediated p53 … gough lake and land realtyWebNM_000051.3(ATM):c.4138C>T (p.His1380Tyr) AND Hereditary cancer-predisposing syndrome Clinical significance: Benign (Last evaluated: Aug 6, 2012) Review status: child mattress firm or soft