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  1. Article

    Open Access

    Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses

    Common variable immunodeficiency (CVID), the most prevalent symptomatic primary immunodeficiency, displays impaired terminal B-cell differentiation and defective antibody responses. Incomplete genetic penetran...

    Javier Rodríguez-Ubreva, Anna Arutyunyan, Marc Jan Bonder in Nature Communications (2022)

  2. Article

    Open Access

    Activation-induced cytidine deaminase targets SUV4-20-mediated histone H4K20 trimethylation to class-switch recombination sites

    Activation-induced cytidine deaminase (AID) triggers antibody diversification in B cells by catalysing deamination and subsequently mutating immunoglobulin (Ig) genes. Association of AID with RNA Pol II and oc...

    Virginia C. Rodríguez-Cortez, Paloma Martínez-Redondo in Scientific Reports (2017)

  3. No Access

    Article

    Dissecting Epigenetic Dysregulation of Primary Antibody Deficiencies

    Primary antibody deficiencies (PADs), the most prevalent inherited primary immunodeficiencies (PIDs), are associated with a wide range of genetic alterations (both monogenic or polygenic) in B cell-specific ge...

    Virginia C. Rodríguez-Cortez, Lucia del Pino-Molina in Journal of Clinical Immunology (2016)

  4. Article

    Open Access

    Monozygotic twins discordant for common variable immunodeficiency reveal impaired DNA demethylation during naïve-to-memory B-cell transition

    Common variable immunodeficiency (CVID), the most frequent primary immunodeficiency characterized by loss of B-cell function, depends partly on genetic defects, and epigenetic changes are thought to contribute...

    Virginia C. Rodríguez-Cortez, Lucia del Pino-Molina in Nature Communications (2015)

  5. Article

    Open Access

    Two independent epigenetic biomarkers predict survival in neuroblastoma

    Neuroblastoma (NB) is the most common extracranial pediatric solid tumor with a highly variable clinical course, ranging from spontaneous regression to life-threatening disease. Survival rates for high-risk NB...

    Yania Yáñez, Elena Grau, Virginia C Rodríguez-Cortez, David Hervás in Clinical Epigenetics (2015)

  6. Article

    Open Access

    The B cell transcription program mediates hypomethylation and overexpression of key genes in Epstein-Barr virus-associated proliferative conversion

    Epstein-Barr virus (EBV) infection is a well characterized etiopathogenic factor for a variety of immune-related conditions, including lymphomas, lymphoproliferative disorders and autoimmune diseases. EBV-medi...

    Henar Hernando, Claire Shannon-Lowe, Abul B Islam, Fatima Al-Shahrour in Genome Biology (2013)