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Recessive retinitis pigmentosa (RP) is often caused by nonsense mutations that lead to low mRNA levels as a result of nonsense-mediated decay. Some RP genes are expressed at detectable levels in leukocytes as well as in the retina. We designed a microarray-based method to find recessive RP genes bas...
ORGANISM(S): Homo sapiens 
Whole-genome mapping of ETV6-RUNX1 in pre-B lymphoblast models
Human lymphoblast cell line methylome
To underestand the possible effect of different genetic mutation in the transcriptome of the human lymphoblast cells.
ORGANISM(S): Homo sapiens 
2014-01-02 | GSE53756 | GEO
Genomics
Analysis of mtDNA in primary T lymphoblast derived exosomes
We will sequence the RNA of lymphoblast samples, transformed with EBV, which have poikiloderma syndrome with mutations in c16orf57. The aim of the experiment is to characterise RNA structural effects in this disease.
ORGANISM(S): Homo sapiens 
A point mutation in the WW domain of PQBP1 that mediates its interaction with SIPP1 causes the Golabi-Ito-Hall (GIH) syndrome, which is associated with severe mental retardation and physical deformations. In this project we compared lymphoblast cell lines from a healthy person and a patient with the...
ORGANISM(S): Homo sapiens 
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