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Pathogenic pathways in early onset autosomal recessive Parkinson’s disease discovered using isogenic human dopaminergic neurons

ABSTRACT: Pathogenic pathways in early onset autosomal recessive Parkinson’s disease discovered using isogenic human dopaminergic neurons

PROVIDER: PRJNA588191 | ENA |

REPOSITORIES: ENA

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Pathogenic pathways in early onset autosomal recessive Parkinson’s disease discovered using isogenic human dopaminergic neurons

Project description:Purpose of NGS transcriptomics: We generated RNA-sequencing transcriptomics datasets from isogenic Parkinson’s disease (PD) HUES1 cell lines (harboring loss of function mutations in either PARKIN (PRKN), DJ-1-/- (PARK7), or ATP13A2-/- (PARK9)) to identify common and distinct dysregulated genes and networks in our three isogenic PD lines in an unbiased way, with the goal of grouping similar and distinct forms of PD and identify common or divergent dysregulation.

2019-11-19 | GSE140076 | GEO

Pathogenic Pathways in Early-Onset Autosomal Recessive Parkinson's Disease Discovered Using Isogenic Human Dopaminergic Neurons.

Project description: Not available

| S-EPMC6962705 | biostudies-literature

Exome Sequencing in Autosomal Recessive Progressive External Ophthalmoplegia

Project description:Exome Sequencing in Autosomal Recessive Progressive External Ophthalmoplegia

| PRJNA75351 | ENA

Genotyping of autosomal recessive type of limb-girdle muscular dystrophies

Project description:26 limb-girdle muscular dystrophy patients from Latvia and 34 patients from Lithuania with clinical symptoms of limb-girdle muscular dystrophies, along with 204 healthy unrelated controls were genotyped for 96 most frequent known limb-girdle muscular dystrophies causing mutations for the region, using VeraCode GoldenGate system. More information can be found in article Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies in BMC Musculoskeletal Disorders by I. Inashkina et al.

2016-04-28 | E-MTAB-4662 | biostudies-arrayexpress

Autosomal recessive TPPII mutations cause a new human immunodeficiency

Project description:Autosomal recessive TPPII mutations cause a new human immunodeficiency

| PRJNA269323 | ENA

Susceptibility to respiratory infections due to autosomal recessive IFIH1 mutations

Project description:Susceptibility to respiratory infections due to autosomal recessive IFIH1 mutations

| PRJNA351274 | ENA

Cas9-guided haplotyping of three truncation variants in autosomal recessive disease

Project description:An autosomal recessive disease is caused by biallelic loss-of-function mutations. However, when more than two disease-causing variants are found in a patient’s gene, it has been challenging to determine which two of the variants are responsible for the disease phenotype. To decipher the pathogenic variants by precise haplotyping, we applied nanopore Cas9-targeted sequencing (nCATS) to three truncation COL7A1 variants detected in a patient with recessive dystrophic epidermolysis bullosa (EB). The distance between the most 5’ and 3’ variants was around 19 kb at the level of genomic DNA. nCATS successfully delineated that the most 5’ and 3’ variants were located in one allele while the variant in between was in the other allele. Intriguingly, the proband’s mother, who was phenotypically intact, was heterozygous for the allele that harbored the two truncation variants, which could otherwise be misinterpreted as those of typical recessive dystrophic EB. Our study illuminates nCATS as a useful tool to determine haplotypes of complicated genetic cases. Haplotyping of multiple variants in a gene can tell which variant should be therapeutically targeted when nucleotide-specific gene therapy is applied.

2022-05-02 | GSE196673 | GEO

Cas9-guided haplotyping of three truncation variants in autosomal recessive disease

Project description:Cas9-guided haplotyping of three truncation variants in autosomal recessive disease

| PRJNA806796 | ENA

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) causes autosomal recessive mental retardation

Project description:Non-syndromic mental retardation is one of the most important unresolved problems in genetic health care. Autosomal forms are far more common than X-linked ones, but in contrast to the latter, they are still largely unexplored. Here we report on a complex mutation in the ionotropic glutamate receptor 6 gene (GRIK2, GLUR6), which co-segregates with moderate to severe non-syndromic autosomal recessive mental retardation in a large consanguineous Iranian family1. The predicted gene product lacks the first ligand-binding domain, the two adjacent transmembrane domains and the putative pore-forming loop of the GLUK6 protein, suggesting a complete loss of function, which is supported by electrophysiological data. This finding provides the first irrefutable proof that GLUK6 is indispensable for higher brain functions in man, and future studies of this and other ionotropic kainate receptors will shed more light on the pathophysiology of mental retardation. Keywords: array CGH

2007-07-04 | GSE7886 | GEO

Autosomal recessive CD70 deficiency is associated with combined immunodeficiency and EBV viremia

Project description:Autosomal recessive CD70 deficiency is associated with combined immunodeficiency and EBV viremia

| PRJNA353543 | ENA