Geraldine Aubert
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View article: Distinct Biological Subtypes of Chronic GVHD after Pediatric Hematopoietic Cell Transplantation
Distinct Biological Subtypes of Chronic GVHD after Pediatric Hematopoietic Cell Transplantation Open
Chronic graft-versus-host-disease (cGvHD) is the primary non-relapse limitation to a successful hematopoietic cell transplantation (HCT) and is largely treated as a single biological entity. We hypothesized that there exist different biolo…
View article: Identification of Distinct Subtypes in Immune Tolerance after Hematopoietic Cell Transplantation Using the Prospective ABLE1.0 Pediatric Study Cohort
Identification of Distinct Subtypes in Immune Tolerance after Hematopoietic Cell Transplantation Using the Prospective ABLE1.0 Pediatric Study Cohort Open
The lack of immune tolerance after hematopoietic cell transplantation (HCT) can result in chronic graft-versus-host disease (cGvHD), which is the primary nonrelapse limitation of successful HCT. To date, immune tolerance has been considere…
View article: Bone Marrow Failure Associated With Short Telomeres and Digenic Variants of Uncertain Significance in Telomere Biology Genes
Bone Marrow Failure Associated With Short Telomeres and Digenic Variants of Uncertain Significance in Telomere Biology Genes Open
Telomere Biology Disorders (TBD) are a group of heritable disorders characterized by short telomeres. We report two patients that presented with bone marrow failure (BMF), who were identified to have low telomere length (TL) and variants o…
View article: T Lymphopenia and Aged Immune System Characterize Immunodeficiency in Adult Patients with Telomere Biology Disorders
T Lymphopenia and Aged Immune System Characterize Immunodeficiency in Adult Patients with Telomere Biology Disorders Open
Immunodeficiency in telomere biology disorders (TBDs) is often observed in patients with severe phenotypes presenting at a young age, as in dyskeratosis congenita. The immune system of adult TBD patients, including risk of infection and co…
View article: Danazol Treatment for Telomere Biology Disorders: Long-Term Results of a Phase I/II Study
Danazol Treatment for Telomere Biology Disorders: Long-Term Results of a Phase I/II Study Open
Introduction: Telomere biology disorders (TBDs) are characterized by abnormal telomere maintenance and a clinically heterogenous phenotype, including marrow failure, pulmonary fibrosis, cirrhosis, and malignancy predisposition. Treatment o…
View article: Antibody signatures against viruses and microbiome reflect past and chronic exposures and associate with aging and inflammation
Antibody signatures against viruses and microbiome reflect past and chronic exposures and associate with aging and inflammation Open
Prior encounters with pathogens and other molecules can imprint long-lasting effects on our immune system, potentially influencing future physiological outcomes. However, given the wide range of pathogens and commensal microbes to which hu…
View article: Sequential Stem Cell–Kidney Transplantation in Schimke Immuno-osseous Dysplasia
Sequential Stem Cell–Kidney Transplantation in Schimke Immuno-osseous Dysplasia Open
Lifelong immunosuppression is required for allograft survival after kidney transplantation but may not ultimately prevent allograft loss resulting from chronic rejection. We developed an approach that attempts to abrogate immune rejection …
View article: Genetic, parental and lifestyle factors influence telomere length
Genetic, parental and lifestyle factors influence telomere length Open
The average length of telomere repeats (TL) declines with age and is considered to be a marker of biological ageing. Here, we measured TL in six blood cell types from 1,046 individuals using the clinically validated Flow-FISH method. We id…
View article: Fat metabolism is associated with telomere length in six population-based studies
Fat metabolism is associated with telomere length in six population-based studies Open
Telomeres are repetitive DNA sequences located at the end of chromosomes, which are associated to biological aging, cardiovascular disease, cancer and mortality. Lipid and fatty acid metabolism have been associated with telomere shortening…
View article: DNA-methylation-based telomere length estimator: comparisons with measurements from flow FISH and qPCR
DNA-methylation-based telomere length estimator: comparisons with measurements from flow FISH and qPCR Open
Telomere length (TL) is a marker of biological aging associated with several health outcomes. High throughput reproducible TL measurements are needed for large epidemiological studies. We compared the novel DNA methylation-based estimator …
View article: Establishing a Framework for the Clinical Translation of Germline Findings in Precision Oncology
Establishing a Framework for the Clinical Translation of Germline Findings in Precision Oncology Open
Inherited genetic variation has important implications for cancer screening, early diagnosis, and disease prognosis. A role for germline variation has also been described in shaping the molecular landscape, immune response, microenvironmen…
View article: Genetic variation in POT1 and risk of thyroid subsequent malignant neoplasm: A report from the Childhood Cancer Survivor Study
Genetic variation in POT1 and risk of thyroid subsequent malignant neoplasm: A report from the Childhood Cancer Survivor Study Open
Using a functional variant approach, we identified and confirmed an association between a low frequency intronic regulatory POT1 variant and thyroid subsequent malignant neoplasm in survivors of childhood cancer. These results suggest that…
View article: From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic <i>PARN</i> pathogenic variants
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic <i>PARN</i> pathogenic variants Open
PARN encodes poly(A)-specific ribonuclease. Biallelic and monoallelic PARN variants are associated with Hoyeraal-Hreidarsson syndrome/dyskeratosis congenita and idiopathic pulmonary fibrosis (IPF), respectively. The molecular features asso…
View article: Telomere Length Calibration from qPCR Measurement: Limitations of Current Method
Telomere Length Calibration from qPCR Measurement: Limitations of Current Method Open
Telomere length (TL) comparisons from different methods are challenging due to differences in laboratory techniques and data configuration. This study aimed to assess the validity of converting the quantitative polymerase chain reaction (q…
View article: Donor telomere length and causes of death after unrelated hematopoietic cell transplantation in patients with marrow failure
Donor telomere length and causes of death after unrelated hematopoietic cell transplantation in patients with marrow failure Open
Key Points Longer donor TL protects patients with SAA undergoing transplantation from infection-related death.
View article: Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives
Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives Open
Several methods have been employed to measure telomere length (TL) in human studies. It has been difficult to directly compare the results from these studies because of differences in the laboratory techniques and output parameters. We com…
View article: Flow Cytometry, a Versatile Tool for Diagnosis and Monitoring of Primary Immunodeficiencies
Flow Cytometry, a Versatile Tool for Diagnosis and Monitoring of Primary Immunodeficiencies Open
Genetic defects of the immune system are referred to as primary immunodeficiencies (PIDs). These immunodeficiencies are clinically and immunologically heterogeneous and, therefore, pose a challenge not only for the clinician but also for t…