ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. - Wikidata - wikimedia - TriplyDB

ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.

ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.

http://www.wikidata.org/entity/Q34384444

about

The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours Molecular pathology of ataxia telangiectasia Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility More breast cancer genes?The p53 pathway in breast cancer The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia Not All Next Generation Sequencing Diagnostics are Created Equal: Understanding the Nuances of Solid Tumor Assay Design for Somatic Mutation Detection Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia Loss of p53 Ser18 and Atm results in embryonic lethality without cooperation in tumorigenesis Radiation exposure, the ATM Gene, and contralateral breast cancer in the women's environmental cancer and radiation epidemiology study.Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study.Cancer risk and the ATM gene: a continuing debate.Computational refinement of functional single nucleotide polymorphisms associated with ATM gene Molecular differences between small and large cells in patients with chronic lymphocytic leukemia.Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.Do novo del(9)(p13) in a childhood T-cell prolymphocytic leukemia as sole abnormality Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene.A new ataxia-telangiectasia mutation in an 11-year-old female Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity Immunodeficiency associated with DNA repair defects.Low levels of ATM in breast cancer patients with clinical radiosensitivity.New mutations in the ATM gene and clinical data of 25 AT patients.The association between ATM IVS 22-77 T>C and cancer risk: a meta-analysis.Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium.Multifunctional role of ATM/Tel1 kinase in genome stability: from the DNA damage response to telomere maintenance Therapy related leukemias: susceptibility, prevention and treatment.ATM gene and lymphoid malignancies.Ataxia telangiectasia gene mutations in leukaemia and lymphoma.Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.Cancer risks and mortality in heterozygous ATM mutation carriers.ATM and breast cancer susceptibility.ATM mutations in sporadic lymphoid tumours.Mutation at intronic repeats of the ataxia-telangiectasia mutated (ATM) gene and ATM protein loss in primary gastric cancer with microsatellite instability Mantle cell lymphoma is characterized by inactivation of the ATM gene.

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P2860

ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.

http://www.wikidata.org/entity/Q34384444

description

1998 nî lūn-bûn

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1998 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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1998 թվականի փետրվարին հրատարակված գիտական հոդված

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1998年の論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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ATM mutations and phenotypes i ...... , lymphoma, and breast cancer.

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ATM mutations and phenotypes i ...... , lymphoma, and breast cancer.

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ATM mutations and phenotypes i ...... , lymphoma, and breast cancer.

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ATM mutations and phenotypes i ...... , lymphoma, and breast cancer.

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ATM mutations and phenotypes i ...... , lymphoma, and breast cancer.

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A M Kidd

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A M Taylor

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A R Bradwell

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P2860

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

The incidence and gene frequency of ataxia-telangiectasia in the United States

The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species

Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma

Variant forms of ataxia telangiectasia.

Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia.

Mutations associated with variant phenotypes in ataxia-telangiectasia

Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia

Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening

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334-345

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62

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