Results 141 to 150 of about 231,105 (412)

Epigenetic reprogramming in multiple myeloma—Challenges and opportunities

International Journal of Cancer, EarlyView.
Abstract In cancer, mutational processes act in concert with epigenetic reprogramming to endow malignant cells with hallmark properties that underpin tumorigenesis. Compared with the relatively rigid and slow processes of genetic evolution, the plastic nature of chromatin enables cells to adapt to a changing environment more rapidly.
Subhasree Kumar, Lev M. Kats, Emily Gruber   +2 more
wiley   +1 more source

BCR-ABL1 gene rearrangement as a subclonal change in ETV6-RUNX1–positive B-cell acute lymphoblastic leukemia

Blood Advances, 2016
: We report here on a case of ETV6-RUNX1–positive B-cell acute lymphoblastic leukemia (B-ALL) that has acquired a BCR-ABL1 gene rearrangement as a subclonal change.
Karen A. Dun, Rob Vanhaeften, Tracey J. Batt, Louise A. Riley, Giuseppe Diano, Jan Williamson   +5 more
doaj  

Prenatal Diagnosis and Clinical Phenotypic Heterogeneity of 22q11.2 Microdeletion Syndrome Based on a Single Center Retrospective Study

Journal of Clinical Laboratory Analysis, EarlyView.
Chromosome 22q11.2 microdeletion syndrome (22q11.2DS) is a common congenital disorder with high clinical phenotypic heterogeneity. In this study, we retrospectively investigated the incidence of prenatal diagnosis of 22q11.2DS in a single center and summarized its clinical manifestations to expand the phenotypic database ABSTRACT Objective To ...
Jia‐yan Chen, Mei‐jiao Cai, Yun‐sheng Ge   +2 more
wiley   +1 more source

IMPACT OF HIGH-RISK CYTOGENETICS ON THE SURVIVAL OF NON-APL ACUTE MYELOID LEUKEMIA PATIENTS

Hematology, Transfusion and Cell Therapy
Acute myeloid leukemia (AML) is a hematologic malignancy characterized by the rapid proliferation of abnormal myeloid cells in the bone marrow and peripheral blood.
FMCP Pessoa, DS Oliveira, IV Barreto, AKC Machado, BMD Nogueira, CB Machado, RM Ribeiro, MOM Filho, MEA Moraes, CA Moreira-Nunes   +9 more
doaj  

Next-generation Sequencing and Karyotype Analysis for the Diagnosis of Robertsonian Translocation Type Trisomy 13: A Case Report

Iranian Journal of Public Health, 2017
Trisomy 13 (Patau syndrome) is the third most common autosomal trisomy with a prevalence between 1 in 10,000 - 20,000 live births. Robertsonian translocations represent the largest number of chromosomal aberrations in human population with an incidence ...
Jing SHA, Fumin LIU, Bei ZHANG, Yang HUANG, Qinglin ZHANG, Gao JUAN, Jingfang ZHAI   +6 more
doaj  

Fluorescence in situ hybridization improves the detection of 5q31 deletion in myelodysplastic syndromes without cytogenetic evidence of 5q-

Haematologica, 2008
Background More than 50% of patients with myelodysplastic syndromes present cytogenetic aberrations at diagnosis. Partial or complete deletion of the long arm of chromosome 5 is the most frequent abnormality.
Mar Mallo, Leonor Arenillas, Blanca Espinet, Marta Salido, Jesús Mª Hernández, Eva Lumbreras, Mónica del Rey, Eva Arranz, Soraya Ramiro, Patricia Font, Olga González, Mónica Renedo, José Cervera, Esperanza Such, Guillermo F. Sanz, Elisa Luño, Carmen Sanzo, Miriam González, María José Calasanz, José Mayans, Carlos García-Ballesteros, Victoria Amigo, Rosa Collado, Isabel Oliver, Félix Carbonell, Encarna Bureo, Andrés Insunza, Lucrecia Yañez, María José Muruzabal, Elena Gómez-Beltrán, Rafael Andreu, Pilar León, Valle Gómez, Ángeles Sanz, Natalia Casasola, Esperanza Moreno, Adrián Alegre, María Luisa Martín, Carmen Pedro, Sergi Serrano, Lourdes Florensa, Francesc Solé   +41 more
doaj   +1 more source

Exploring the Multifractal Behavior of the Human Genome T2T-CHM13v2.0: Graphical Representations and Cytogenetics [PDF]

arXiv
In this work, we applied the Chaos Game Representation (CGR) to the complete human genomic sequence T2T-CHM13v2.0, analyzing the entire chromosome assembly and each chromosome separately, including mitochondrial DNA. Multifractal spectra were determined using two types of box-counting coverage, revealing slight variations across most chromosomes. While
arxiv  

FTIR spectral imaging as a probe of ultrasound effect on cells in vitro [PDF]

Biophys. & Bioeng. Letters (2009), Vol 2, Nr 2, 2010
Safe and efficient intracellular delivery of genes or drugs is critically important in targeted cancer treatment and gene therapy applications. Ultrasound (US) has been demonstrated to alter the cell membrane permeability due to a biophysical mechanism (Sonoporation) and exploited as a promising non-invasive gene transfer method.
arxiv  

Exploration of Neurodegenerative Diseases Using Long‐Read Sequencing and Optical Genome Mapping Technologies

Movement Disorders, EarlyView.
Abstract Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of next‐generation sequencing (NGS) technologies in both research and clinical settings.
Guillaume Cogan, Kensuke Daida, Cornelis Blauwendraat, Kimberley Billingsley, Alexis Brice   +4 more
wiley   +1 more source

Dipteran chromosomes: a simple method for obtaining high quality chromosomal preparations [PDF]

, 2014
For cytogenetic studies it is necessary to develop an efficient method of chromosome preparation with wellpreserved and dispersed chromosomes and little or no cell-wall debris.
Bressa, Maria Jose, Chirino, Monica Gabriela, Luaces, Juan Pablo, Merani, Maria Susana, Rossi, Luis Francisco   +4 more
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