DNA methylation and gene expression signatures are associated with ataxia-telangiectasia phenotype

[1]  T. Lüscher,et al.  Therapeutic Implications , 2020, The Endothelium: Modulator of Cardiovascular Function.

[2]  Hananeh Aliee,et al.  AutoGeneS: Automatic gene selection using multi-objective optimization for RNA-seq deconvolution , 2020, bioRxiv.

[3]  J. C. Mombach,et al.  ATM/miR‐34a‐5p axis regulates a p21‐dependent senescence‐apoptosis switch in non‐small cell lung cancer: a Boolean model of G1/S checkpoint regulation , 2019, FEBS letters.

[4]  T. Dörk,et al.  Functional classification of ATM variants in ataxia‐telangiectasia patients , 2019, Human mutation.

[5]  B. Singer,et al.  A Practical Guide to the Measurement and Analysis of DNA Methylation. , 2019, American journal of respiratory cell and molecular biology.

[6]  T. Tsubata Inhibitory B cell co-receptors and autoimmune diseases , 2019, Immunological medicine.

[7]  A. Shilatifard,et al.  CATACOMB: An endogenous inducible gene that antagonizes H3K27 methylation activity of Polycomb repressive complex 2 via an H3K27M-like mechanism , 2019, Science Advances.

[8]  A. Aghamohammadi,et al.  Ataxia‐telangiectasia: A review of clinical features and molecular pathology , 2019, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

[9]  M. Patnaik,et al.  A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity) , 2019, Front. Immunol..

[10]  T. Dörk,et al.  Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations , 2019, Journal of Medical Genetics.

[11]  L. Morales-Nebreda,et al.  DNA methylation as a transcriptional regulator of the immune system , 2019, Translational research : the journal of laboratory and clinical medicine.

[12]  H. Tsukamoto,et al.  Inflammatory pathways in alcoholic steatohepatitis. , 2019, Journal of hepatology.

[13]  Ashley D. Hill,et al.  PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia , 2019, Nature Genetics.

[14]  Lei Jin,et al.  B cell MHC class II signaling: A story of life and death. , 2019, Human immunology.

[15]  M. Mehta,et al.  Mitochondrial complex III is essential for suppressive function of regulatory T cells , 2019, Nature.

[16]  M. O’Reilly,et al.  Inflammation and transcriptional responses of peripheral blood mononuclear cells in classic ataxia telangiectasia , 2018, PloS one.

[17]  A. Shilatifard,et al.  TET2 coactivates gene expression through demethylation of enhancers , 2018, Science Advances.

[18]  F. Tacke,et al.  Adapted Immune Responses of Myeloid-Derived Cells in Fatty Liver Disease , 2018, Front. Immunol..

[19]  J. Michálek,et al.  Elevated DNA methylation in malignant tumors of the sinonasal tract and its association with patient survival. , 2018, Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia.

[20]  R. Wunderink,et al.  Multidimensional assessment of alveolar T cells in critically ill patients. , 2018, JCI insight.

[21]  N. Crapoulet,et al.  Pax-5 Inhibits Breast Cancer Proliferation Through MiR-215 Up-regulation , 2018, AntiCancer Research.

[22]  R. Salomão,et al.  B-cell subsets imbalance and reduced expression of CD40 in ataxia-telangiectasia patients. , 2018, Allergologia et immunopathologia.

[23]  S. McGrath-Morrow,et al.  DNA methylation regulates the neonatal CD4+ T-cell response to pneumonia in mice , 2018, The Journal of Biological Chemistry.

[24]  A. Eisen,et al.  Ataxia-telangiectasia gene (ATM) mutation heterozygosity in breast cancer: a narrative review. , 2018, Current oncology.

[25]  Paul Hoffman,et al.  Integrating single-cell transcriptomic data across different conditions, technologies, and species , 2018, Nature Biotechnology.

[26]  Fabian J Theis,et al.  SCANPY: large-scale single-cell gene expression data analysis , 2018, Genome Biology.

[27]  A. Takata,et al.  A novel mutation in SLC1A3 causes episodic ataxia , 2018, Journal of Human Genetics.

[28]  Sanjiv J. Shah,et al.  A null mutation in SERPINE1 protects against biological aging in humans , 2017, Science Advances.

[29]  Y. Shiloh,et al.  Ataxia-telangiectasia (A-T): An emerging dimension of premature ageing , 2017, Ageing Research Reviews.

[30]  T. Crawford,et al.  Ataxia telangiectasia: a review , 2016, Orphanet Journal of Rare Diseases.

[31]  A. Bush,et al.  Ataxia telangiectasia: presentation and diagnostic delay , 2016, Archives of Disease in Childhood.

[32]  A. Taylor,et al.  Health risks for ataxia‐telangiectasia mutated heterozygotes: a systematic review, meta‐analysis and evidence‐based guideline , 2016, Clinical genetics.

[33]  T. Kipps,et al.  ATM Mutations in Cancer: Therapeutic Implications , 2016, Molecular Cancer Therapeutics.

[34]  F. Marincola,et al.  Cish actively silences TCR signaling in CD8+ T cells to maintain tumor tolerance , 2015, Journal for ImmunoTherapy of Cancer.

[35]  S. E. Stanley,et al.  Radiation Sensitivity and Radiation Necrosis in the Short Telomere Syndromes , 2015, International journal of radiation oncology, biology, physics.

[36]  Shalu Nigam A Story of Life and Death: Population Control Policies and Women's Right to Survival , 2014 .

[37]  D. Starczynowski,et al.  IRAK signalling in cancer , 2014, British Journal of Cancer.

[38]  N. Amariglio,et al.  Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia , 2014, Journal of Clinical Immunology.

[39]  Y. Lim,et al.  CXCL3 is a potential target for breast cancer metastasis. , 2014, Current cancer drug targets.

[40]  T. Morio,et al.  Successful treatment of diffuse large B-cell lymphoma in a patient with ataxia telangiectasia using rituximab. , 2013, Journal of pediatric hematology/oncology.

[41]  M. van der Burg,et al.  Immune deficiencies , infection , and systemic immune disorders Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed Band T-cell homeostasis and reduced immune repertoire diversity , 2022 .

[42]  P. Marik,et al.  Narrative Review , 2012, Journal of intensive care medicine.

[43]  C. Notarnicola,et al.  The RNA-binding protein RBPMS2 regulates development of gastrointestinal smooth muscle. , 2012, Gastroenterology.

[44]  L. Rosenwasser,et al.  The role of CD23 in IgE dependent signaling: implications from pharmacogenetics. , 2010, Transactions of the American Clinical and Climatological Association.

[45]  Cory Y. McLean,et al.  GREAT improves functional interpretation of cis-regulatory regions , 2010, Nature Biotechnology.

[46]  B. Dallapiccola,et al.  Founder Effects for ATM Gene Mutations in Italian Ataxia Telangiectasia Families , 2009, Annals of human genetics.

[47]  J. Tobias,et al.  B cell activator PAX5 promotes lymphomagenesis through stimulation of B cell receptor signaling. , 2007, The Journal of clinical investigation.

[48]  D. Eberhard,et al.  Pax5 Determines the Identity of B Cells from the Beginning to the End of B-lymphopoiesis , 2001, International reviews of immunology.

[49]  M. Cabana,et al.  Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia , 1998, Pediatrics.

[50]  A. Børresen-Dale,et al.  Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect , 1998, European Journal of Human Genetics.

[51]  R. Morimoto,et al.  HSF4, a new member of the human heat shock factor family which lacks properties of a transcriptional activator , 1997, Molecular and cellular biology.

[52]  J. Parkhill,et al.  Accelerated telomere shortening in ataxia telangiectasia , 1996, Nature Genetics.

[53]  R. C. Macridis A review , 1963 .

[54]  A. Sokolenko,et al.  ATM mutation spectrum in Russian children with ataxia-telangiectasia. , 2019, European journal of medical genetics.

[55]  L. Zannini,et al.  Cell cycle and apoptosis regulator 2 at the interface between DNA damage response and cell physiology. , 2018, Mutation research.

[56]  T. von Zglinicki,et al.  The DNA Damage Response in Neurons: Die by Apoptosis or Survive in a Senescence-Like State? , 2017, Journal of Alzheimer's disease : JAD.

[57]  K. Honjo,et al.  Emerging roles for the FCRL family members in lymphocyte biology and disease. , 2014, Current topics in microbiology and immunology.

[58]  G. Tsangaris,et al.  The ATM gene and ataxia telangiectasia. , 2008, Anticancer research.

[59]  A. Børresen-Dale,et al.  Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. , 1998, American journal of human genetics.

[60]  Y. Benjamini,et al.  Controlling the false discovery rate: a practical and powerful approach to multiple testing , 1995 .