Search results for "mutació"
showing 10 items of 19 documents
Case report : partial uniparental disomy unmasks a novel recessive mutation in the LYST gene in a patient with a severe phenotype of Chediak-Higashi …
2021
Síndrome de Chédiak-Higashi; LYST; Disomia uniparental Síndrome de Chédiak-Higashi; LYST; Disomía uniparental Chédiak-Higashi syndrome; LYST; Uniparental disomy Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecul…
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
2017
AbstractMutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of Spain or other Mediterranean countries. This cross-sectional retrospective multicenter study analyzed the clinical and genetic characteristics of patients with GDAP1 mutations across Spain. 99 patients were identified, which were distributed across most of Spain, but especially in the Northwest and Mediterranean regions. The most common genotypes were p.R120W (in 81% of patients with autosomal dominant inheritance) and p.Q163X (in 73% of autosomal recessive patients). Patients with recessively inherited mutations had a more seve…
Estado mutacional del oncogén N-RAS en melanoma cutáneo como factor pronóstico. Estudio clínico-patológico.
2015
El melanoma, es la neoplasia cutánea mas agresiva cuya incidencia y mortalidad han incrementado de manera espectacular en las últimas décadas. La patogénesis del melanoma es compleja y no se comprende totalmente; para su desarrollo es necesaria la transformación maligna de melanocitos, que ocurre tanto en individuos genéticamente normales como genéticamente predispuestos. Las alteraciones genéticas identificadas en melanomas en diferentes sitios y con diferentes niveles de exposición al sol indican que hay distintas vías genéticas en el desarrollo de melanoma, una de ellas es la mutación activadora de los genes RAS. El N-RAS se encuentra mutado en aproximadamente el 15-20% de los melanomas …
Correlación entre las características dermatoscópicas del melanoma y la presencia de mutaciones en BRAF
2017
INTRODUCCIÓN: La clasificación y el manejo del melanoma se ven cada vez más condicionados por su base genética. Así, la presencia o ausencia de mutaciones en BRAF ya constituye un factor determinante en el abordaje terapéutico de casos metastásicos. Existe actualmente un gran interés en identificar las características diferenciales entre melanomas BRAF-mutados y melanomas wild-type. Algunas diferencias clínicas e histopatológicas ya han sido bien caracterizadas. En cuanto a las diferencias dermatoscópicas, todavía no existen datos concluyentes. Puesto que se han encontrado características histopatológicas diferenciales y que la dermatoscopia es un puente entre la clínica y la histopatología…
Mutations along human chromosomes: How randomly scattered are they?
2022
The diversity of mutations in human chromosomes is nowadays very well documented. The mutations characterize populations in the world as well as genetic causes of diseases. In the approach that we follow, we study the patterns of gaps between mutations by means of the rescaled range analysis and the fractal dimension estimates. The results for chromosomes 1 to 22 and X indicate the existence of the so-called Hurst phenomenon in all of them. The interpretation of this outcome entails the presence of long-range correlations and we propose an explanation based on the genomic feature dubbed linkage disequilibrium, a nonrandom association of alleles at different loci. An unexpected outcome is th…
Transmission of HIV Drug Resistance and the Predicted Effect on Current First-line Regimens in Europe
2016
Transmitted human immunodeficiency virus drug resistance in Europe is stable at around 8%. The impact of baseline mutation patterns on susceptibility to antiretroviral drugs should be addressed using clinical guidelines. The impact on baseline susceptibility is largest for nonnucleoside reverse transcriptase inhibitors.
Role of Kras Status in Patients with Metastatic Colorectal Cancer Receiving First-Line Chemotherapy plus Bevacizumab: A TTD Group Cooperative Study
2012
Background: In the MACRO study, patients with metastatic colorectal cancer (mCRC) were randomised to first-line treatment with 6 cycles of capecitabine and oxaliplatin (XELOX) plus bevacizumab followed by either single-agent bevacizumab or XELOX plus bevacizumab until disease progression. An additional retrospective analysis was performed to define the prognostic value of tumour KRAS status on progression-free survival (PFS), overall survival (OS) and response rates. Methodology/Principal Findings: KRAS data (tumour KRAS status and type of mutation) were collected by questionnaire from participating centres that performed KRAS analyses. These data were then cross-referenced with efficacy da…
¿Por qué la literatura?
2021
In poetry, as well as in a good part of prose works, the rhythm of words is the music that governs reason and emotion. Literature occupies an important place in my creation. In this article I describe the different procedures in which I configure its presence in my music and the main themes in four of my works: Envoi, Como el viento, Maya and Transmutación.
Conserved chromosomal clustering of genes governed by chromatin regulators in Drosophila
2008
Transcriptional analysis of chromatin regulator mutants in Drosophila melanogaster identified clusters of functionally related genes conserved in other insect species.
Las matemáticas del cubo de Rubik
2013
[ES] En este artículo mostramos cómo podemos utilizar el cubo de Rubik para presentar algunos conceptos básicos de la teoría de grupos y cómo podemos usar esta para resolver el cubo de Rubik.