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Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression
TLDR
CYP3A5 was more frequently expressed in livers of African Americans than in those of Caucasians, and may be the most important genetic contributor to interindividual and interracial differences in CYP3A-dependent drug clearance and in responses to many medicines. Expand
Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia
TLDR
It is suggested that direct disruption of pathways controlling B-cell development and differentiation contributes to B-progenitor ALL pathogenesis and the power of high-resolution, genome-wide approaches to identify new molecular lesions in cancer. Expand
Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling.
TLDR
Oligonucleotide microarrays used to analyze the pattern of genes expressed in leukemic blasts from 360 pediatric ALL patients identified each of the prognostically important leukemia subtypes, and within some genetic subgroups, expression profiles identified those patients that would eventually fail therapy. Expand
BCR–ABL1 lymphoblastic leukaemia is characterized by the deletion of Ikaros
TLDR
Genetic lesions resulting in the loss of Ikaros function are an important event in the development of BCR–ABL1 ALL, according to genome-wide analysis of diagnostic leukaemia samples. Expand
Deletion of IKZF1 and prognosis in acute lymphoblastic leukemia.
TLDR
The gene-expression signature of the group of patients with a poor outcome revealed increased expression of hematopoietic stem-cell genes and reduced expression of B-cell-lineage genes, and it was similar to the signature of BCR-ABL1-positive ALL, another high-risk subtype of ALL with a high frequency of IKZF1 deletion. Expand
Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia.
TLDR
Ph-like ALL was found to be characterized by a range of genomic alterations that activate a limited number of signaling pathways, all of which may be amenable to inhibition with approved tyrosine kinase inhibitors. Expand
Treating childhood acute lymphoblastic leukemia without cranial irradiation.
TLDR
With effective risk-adjusted chemotherapy, prophylactic cranial irradiation can be safely omitted from the treatment of childhood ALL. Expand
THE GENOMIC LANDSCAPE OF PEDIATRIC AND YOUNG ADULT T-LINEAGE ACUTE LYMPHOBLASTIC LEUKEMIA
TLDR
Using integrated genomic analysis of 264 T-ALL cases, 106 putative driver genes are identified and new mechanisms of coding and noncoding alteration are described, which suggests that different signaling pathways have distinct roles according to maturational stage. Expand
Molecular Diagnosis of Thiopurine S-Methyltransferase Deficiency: Genetic Basis for Azathioprine and Mercaptopurine Intolerance
TLDR
An inverse correlation between TPM activity and accumulation of the active thioguanine nucleotide metabolites of mercaptopurine and azathioprine in erythrocytes is established and two mutant alleles that are associated with TPM deficiency are isolated and characterized. Expand
Germline genomic variants associated with childhood acute lymphoblastic leukemia
TLDR
It is concluded that germline variants affect susceptibility to, and characteristics of, specific ALL subtypes, and with methotrexate accumulation and gene expression pattern in leukemic lymphoblasts. Expand
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