Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Myoclonus dystonia as a predominant manifestation in ataxia telangiectasia.
Carvalho M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Computational Analysis of Non-synonymous SNPs in ATM Kinase: Structural Insights, Functional Implications, and Inhibitor Discovery.
Panchal NK et al.
Molecular Biotechnology, 2025
Comprehensive germline profiling of patients with breast cancer: initial experience from a Familial Cancer Clinic.
Pramanik R et al.
Ecancermedicalscience, 2024
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.
Akbar F et al.
Hereditary Cancer in Clinical Practice, 2022
The Mutational Landscape of Metastatic Castration-sensitive Prostate Cancer: The Spectrum Theory Revisited.
Deek MP et al.
European Urology, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
High prevalence of TP53 loss and whole-genome doubling in early-onset colorectal cancer.
Kim JE et al.
Experimental & Molecular Medicine, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Cryo-EM Structure of Nucleotide-Bound Tel1ATM Unravels the Molecular Basis of Inhibition and Structural Rationale for Disease-Associated Mutations.
Yates LA et al.
Structure (london, England : 1993), 2020
Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
van Os NJH et al.
Journal of Medical Genetics, 2019
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Schon K et al.
Annals of Neurology, 2019
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
Ataxia telangiectasia: more variation at clinical and cellular levels.
Taylor AM et al.
Clinical Genetics, 2015
Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways.
Keimling M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
Barone G et al.
Human Mutation, 2009
Accurate prediction of deleterious protein kinase polymorphisms.
Torkamani A et al.
Bioinformatics (oxford, England), 2007