Genetics of human telomere biology disorders
P Revy, C Kannengiesser, AA Bertuch - Nature Reviews Genetics, 2023 - nature.com
Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that
prevent the activation of DNA damage response and repair pathways. Numerous factors …
prevent the activation of DNA damage response and repair pathways. Numerous factors …
Glomerulonephritis: immunopathogenesis and immunotherapy
Abstract 'Glomerulonephritis'(GN) is a term used to describe a group of heterogeneous
immune-mediated disorders characterized by inflammation of the filtration units of the kidney …
immune-mediated disorders characterized by inflammation of the filtration units of the kidney …
A practical approach to curate clonal hematopoiesis of indeterminate potential in human genetic data sets
Clonal hematopoiesis of indeterminate potential (CHIP) is a common form of age-related
somatic mosaicism that is associated with significant morbidity and mortality. CHIP mutations …
somatic mosaicism that is associated with significant morbidity and mortality. CHIP mutations …
Spectrum of clonal hematopoiesis in VEXAS syndrome
F Gutierrez-Rodrigues, Y Kusne… - Blood, The Journal …, 2023 - ashpublications.org
Abstract Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is
caused by somatic mutations in UBA1 (UBA1 mut) and characterized by heterogenous …
caused by somatic mutations in UBA1 (UBA1 mut) and characterized by heterogenous …
Single-cell multi-omics of human clonal hematopoiesis reveals that DNMT3A R882 mutations perturb early progenitor states through selective hypomethylation
Somatic mutations in cancer genes have been detected in clonal expansions across healthy
human tissue, including in clonal hematopoiesis. However, because mutated and wild-type …
human tissue, including in clonal hematopoiesis. However, because mutated and wild-type …
Azacitidine for patients with vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS) and myelodysplastic syndrome: data from the French …
T Comont, M Heiblig, E Rivière… - British journal of …, 2022 - Wiley Online Library
Azacitidine can be effective in myelodysplastic syndromes (MDS) associated with
inflammatory/autoimmune diseases. Vacuoles, E1 Enzyme, X‐linked, Autoinflammatory …
inflammatory/autoimmune diseases. Vacuoles, E1 Enzyme, X‐linked, Autoinflammatory …
An update on VEXAS syndrome
A Al-Hakim, S Savic - Expert Review of Clinical Immunology, 2023 - Taylor & Francis
Introduction VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome
is a recently described, late-onset, acquired autoinflammatory disorder caused by mutations …
is a recently described, late-onset, acquired autoinflammatory disorder caused by mutations …
Clonal hematopoiesis, somatic mosaicism, and age-associated disease
MA Evans, K Walsh - Physiological Reviews, 2023 - journals.physiology.org
Somatic mosaicism, the occurrence of multiple genetically distinct cell clones within the
same tissue, is an evitable consequence of human aging. The hematopoietic system is no …
same tissue, is an evitable consequence of human aging. The hematopoietic system is no …
Long-term outcomes in patients with severe aplastic anemia treated with immunosuppression and eltrombopag: a phase 2 study
BA Patel, EM Groarke, J Lotter… - Blood, The Journal …, 2022 - ashpublications.org
Patients with severe aplastic anemia (SAA) are either treated with bone marrow transplant
(BMT) or immunosuppression (IST) depending on their age, comorbidities, and available …
(BMT) or immunosuppression (IST) depending on their age, comorbidities, and available …
Naturally occurring T cell mutations enhance engineered T cell therapies
Adoptive T cell therapies have produced exceptional responses in a subset of patients with
cancer. However, therapeutic efficacy can be hindered by poor T cell persistence and …
cancer. However, therapeutic efficacy can be hindered by poor T cell persistence and …