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1.
Int J Mol Sci ; 24(24)2023 Dec 18.
Artigo em Inglês | MEDLINE | ID: mdl-38139431

RESUMO

The landscape of chromosomal aberrations in the tumor cells of the patients with B-ALL is diverse and can influence the outcome of the disease. Molecular karyotyping at the onset of the disease using chromosomal microarray (CMA) is advisable to identify additional molecular factors associated with the prognosis of the disease. Molecular karyotyping data for 36 patients with Ph-negative B-ALL who received therapy according to the ALL-2016 protocol are presented. We analyzed copy number alterations and their prognostic significance for CDKN2A/B, DMRTA, DOCK8, TP53, SMARCA2, PAX5, XPA, FOXE1, HEMGN, USP45, RUNX1, NF1, IGF2BP1, ERG, TMPRSS2, CRLF2, FGFR3, FLNB, IKZF1, RUNX2, ARID1B, CIP2A, PIK3CA, ATM, RB1, BIRC3, MYC, IKZF3, ETV6, ZNF384, PTPRJ, CCL20, PAX3, MTCH2, TCF3, IKZF2, BTG1, BTG2, RAG1, RAG2, ELK3, SH2B3, EP300, MAP2K2, EBI3, MEF2D, MEF2C, CEBPA, and TBLXR1 genes, choosing t(4;11) and t(7;14) as reference events. Of the 36 patients, only 5 (13.8%) had a normal molecular karyotype, and 31 (86.2%) were found to have various molecular karyotype abnormalities-104 deletions, 90 duplications or amplifications, 29 cases of cnLOH and 7 biallelic/homozygous deletions. We found that 11q22-23 duplication involving the BIRC3, ATM and MLL genes was the most adverse prognostic event in the study cohort.


Assuntos
Proteínas Imediatamente Precoces , Leucemia-Linfoma Linfoblástico de Células Precursoras , Adulto , Humanos , Variações do Número de Cópias de DNA , Aberrações Cromossômicas , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , DNA , Perda de Heterozigosidade , Proteínas Nucleares/genética , Proteínas Imediatamente Precoces/genética , Proteínas Supressoras de Tumor/genética , Fatores de Troca do Nucleotídeo Guanina/genética
2.
Inorg Chem ; 62(14): 5531-5542, 2023 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-36989116

RESUMO

Photoinduced linkage isomers (PLIs) of the nitro-ligand were generated and comprehensively characterized in a square planar unit [Pd(NH3)3NO2]+ of the complex salts [Pd(NH3)4][Pd(NH3)3NO2][MOx3]·yH2O (M = Cr (Cr), Rh (Rh), Co (Co), Ox = oxalate). Structural (XRD) and spectroscopic (IR, UV-vis) investigations at 10 and 150 K allowed determining the structures of several photoinduced linkage isomers, endo-ONO (PLI1, 2) and exo-ONO (PLI3, 4) isomers generated by irradiation with 365 nm from the initial NO2 (GS), along with the assignment of the infrared (IR) bands to each structural isomer. Based on a combination of these methods, the photo- and thermally induced interplay of PLIs was investigated. Irradiation in the temperature range of 10-80 K induces the formation of both endo- and exo-ONO isomers, while increasing the temperature up to 150 K results in the formation of only endo-ONO isomers. The structural arrangement of the endo-ONO and exo-ONO PLI is strongly influenced by intermolecular interactions due to the partial occupation of a neighboring site by water molecules. The investigation of thermal dynamics of PLIs revealed that the thermal decay of the exo-ONO isomer occurs via two steps exo-ONO → endo-ONO → NO2. The kinetic parameters (Ea, k0) of both decay processes were determined together with the characteristic decay temperatures (Td) by IR spectroscopy. According to the photoinduced dynamics measured by IR spectroscopy, the mechanism of PLI formation in [Pd(NH3)3NO2]+ could be described as NO2 → endo-ONO → exo-ONO.

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