Biallelic and monoallelic deletion of the RB1 promoter in six isogenic clonal H9 hESC lines.
Sign Up to like & getrecommendations! 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… read more here.
Keywords: rb1 promoter; biallelic monoallelic; deletion; deletion rb1 ... See more keywords
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
Sign Up to like & getrecommendations! 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… read more here.
Keywords: biallelic monoallelic; novel neurodevelopmental; eye anomalies; eye ... See more keywords
Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia
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DOI: 10.1186/s13023-024-03135-8
Abstract: Objective Idiopathic infantile hypercalcemia (IIH) is a rare disorder of PTH-independent hypercalcemia. CYP24A1 and SLC34A1 gene mutations cause two forms of hereditary IIH. In this study, the clinical manifestations and molecular aspects of six new… read more here.
Keywords: idiopathic infantile; infantile hypercalcemia; cyp24a1 slc34a1; biallelic monoallelic ... See more keywords
Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms
Sign Up to like & getrecommendations! 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… read more here.
Keywords: disease; biallelic monoallelic; facial weakness; central core ... See more keywords