[HTML][HTML] Genetic mosaicism as a cause of inborn errors of immunity
Inborn errors of immunity (IEIs) are a heterogeneous group of disorders due to genetic
defects in the immune response that have a broad clinical spectrum. Diagnosis of the …
defects in the immune response that have a broad clinical spectrum. Diagnosis of the …
Biomarkers of cytogenetic damage in humans and risk of cancer. The European Study Group on Cytogenetic Biomarkers and Health (ESCH)
C Lando, L Hagmar, S Bonassi - La Medicina del Lavoro, 1998 - europepmc.org
Cytogenetic assays in peripheral blood lymphocytes (PBL) have been used extensively in
the last decades to survey human exposure to genotoxic agents. The conceptual basis for …
the last decades to survey human exposure to genotoxic agents. The conceptual basis for …
[HTML][HTML] Low-pass genome sequencing–based detection of absence of heterozygosity: validation in clinical cytogenetics
Purpose Absence of heterozygosity (AOH) is a genetic characteristic known to cause human
genetic disorders through autosomal recessive or imprinting mechanisms. However, the …
genetic disorders through autosomal recessive or imprinting mechanisms. However, the …
Distinction of lymphoid and myeloid clonal hematopoiesis
Clonal hematopoiesis (CH) results from somatic genomic alterations that drive clonal
expansion of blood cells. Somatic gene mutations associated with hematologic …
expansion of blood cells. Somatic gene mutations associated with hematologic …
Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility
The Y chromosome is frequently lost in hematopoietic cells, which represents the most
common somatic alteration in men. However, the mechanisms that regulate mosaic loss of …
common somatic alteration in men. However, the mechanisms that regulate mosaic loss of …
[HTML][HTML] Sensitive and specific detection of mosaic chromosomal abnormalities using the parent-of-origin-based detection (POD) method
Background Mosaic somatic alterations are present in all multi-cellular organisms, but the
physiological effects of low-level mosaicism are largely unknown. Most mosaic alterations …
physiological effects of low-level mosaicism are largely unknown. Most mosaic alterations …
High-resolution genome-wide array-based comparative genome hybridization reveals cryptic chromosome changes in AML and MDS cases with trisomy 8 as the sole …
K Paulsson, M Heidenblad, B Strömbeck, J Staaf… - Leukemia, 2006 - nature.com
Although trisomy 8 as the sole chromosome aberration is the most common numerical
abnormality in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), little is …
abnormality in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), little is …
Mosaicism, aging and cancer
MJ Machiela - Current opinion in oncology, 2019 - journals.lww.com
Ample evidence exists for shared risk factors for genetic mosaicism and cancer risk as well
as abundant support linking genetic mosaicism in leukocytes to hematologic malignancies …
as abundant support linking genetic mosaicism in leukocytes to hematologic malignancies …
Large-scale analysis of acquired chromosomal alterations in non-tumor samples from patients with cancer
Mosaicism, the presence of subpopulations of cells bearing somatic mutations, is associated
with disease and aging and has been detected in diverse tissues, including apparently …
with disease and aging and has been detected in diverse tissues, including apparently …
[HTML][HTML] Parallel genomic analysis from paired bone marrow and peripheral blood samples of 200 cytopenic patients
S Huber, N Wossidlo, T Haferlach, S Hutter, W Walter… - Leukemia, 2024 - nature.com
Bone marrow (BM) analysis is required for morphological and genetic assessment in
patients evaluated for myelodysplastic neoplasms (MDS) and thus currently represents the …
patients evaluated for myelodysplastic neoplasms (MDS) and thus currently represents the …