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Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101779
Abstract: Retinoblastoma is a childhood tumor of the retina that is caused mostly by biallelic inactivation of the tumor suppressor gene RB1. To generate a research resource, we abrogated expression of RB1 in H9 hESCs by…
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Keywords:
rb1 promoter;
biallelic monoallelic;
deletion;
deletion rb1 ... See more keywords
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0
Published in 2021 at "Genetics in Medicine"
DOI: 10.1038/s41436-021-01196-9
Abstract: Purpose To investigate the effect of PLXNA1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and to functionally characterize the zebrafish homologs plxna1a and plxna1b during development. Methods We assembled…
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Keywords:
biallelic monoallelic;
novel neurodevelopmental;
eye anomalies;
eye ... See more keywords
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Published in 2022 at "Genes"
DOI: 10.3390/genes13050760
Abstract: Central Core Disease (CCD) is a genetic neuromuscular disorder characterized by the presence of cores in muscle biopsy. The inheritance has been described as predominantly autosomal dominant (AD), and the disease may present as severe…
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Keywords:
disease;
biallelic monoallelic;
facial weakness;
central core ... See more keywords