Video Experimental Relacionado
Updated: Apr 17, 2026

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
Published on: December 4, 2021
La curación cromotriptica del síndrome WHIM es una cura para el síndrome WHIM
David H McDermott1, Ji-Liang Gao1, Qian Liu1
1Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
La cromotripsis curó espontáneamente a un paciente con síndrome WHIM mediante la eliminación de la mutación CXCR4. Esto sugiere que la inactivación parcial de CXCR4 puede ayudar al injerto de células madre hematopoyéticas en el trasplante.
Área de la Ciencia:
- Genética La genética.
- Inmunología Inmunología.
- Biología celular Biología celular.
Sus antecedentes:
- El síndrome de WHIM es una inmunodeficiencia causada por una mutación de ganancia de función de CXCR4.
- La cromotripsis implica una masiva eliminación y reorganización de los cromosomas.
Más Videos Relacionados
08:22A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
Published on: September 16, 2019
08:27A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome
Published on: May 22, 2019
Videos de Conceptos Relacionados
Conservative Site-specific Recombination and Phase Variation
The recognition sites for Cre recombinase called LoxP...
Restarting Stalled Replication Forks
Crossing Over
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Translesion DNA Polymerases
TLS polymerases are found in all three domains of life - archaea, bacteria, and eukaryotes. Of the different classes of TLS polymerases, members of the Y family are fitted with specialized structures that...