Similar studies for GEO DataSets (Select 200197120) - GEO DataSets

Select item 2001971201.

A Progeroid Syndrome with Severe Osteogenesis Imperfecta segregates with an Intronic TAPT1 homozygous Variant that Creates a knockout allele

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing; Other

Platform:: GPL24676
13 Samples

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Series

Accession:: GSE197120

ID:: 200197120

PubMed Full text in PMC Similar studies

Select item 2001971192.

A Progeroid Syndrome with Severe Osteogenesis Imperfecta segregates with an Intronic TAPT1 homozygous Variant that Creates a knockout allele [NET-seq]

(Submitter supplied) In this study, we use transcriptomic approaches, to delineate a non-coding TAPT1 mutation (c.1237-52G>A) resulting in a protein-null allele, that segregated with a congenital recessive disease recessive consisting of Osteogenesis Imperfecta (OI) and neonatal progeria.

Organism:: Homo sapiens

Type:: Other

Platform:: GPL24676
8 Samples

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Series

Accession:: GSE197119

ID:: 200197119

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Select item 2001971183.

A Progeroid Syndrome with Severe Osteogenesis Imperfecta segregates with an Intronic TAPT1 homozygous Variant that Creates a knockout allele [RNA-seq]

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL24676
5 Samples

Download data: BW

Series

Accession:: GSE197118

ID:: 200197118

PubMed Full text in PMC Similar studies Analyze with GEO2R

Select item 2001859434.

Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8

(Submitter supplied) Rare, biallelic loss-of-function mutations in DOCK8 result in a combined immune deficiency characterized by severe and recurrent cutaneous infections, eczema, allergies, and susceptibility to malignancy, as well as impaired humoral and cellular immunity and hyper-IgE. The advent of next-generation sequencing technologies has enabled the rapid molecular diagnosis of rare monogenic diseases, including inborn errors of immunity. more...

Organism:: Homo sapiens

Type:: Expression profiling by high throughput sequencing

Platform:: GPL21697
4 Samples

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Series

Accession:: GSE185943

ID:: 200185943

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Select item 2000317575.

A Systematic Comparison and Evaluation of High Density Exon Arrays and RNA-seq technology in Unraveling the Peripheral Blood Transcriptome of Sickle Cell Disease.

(Submitter supplied) Sickle cell transcriptome was analyzed using whole blood clinical specimens on the Affymetrix Human Exon 1.0 ST arrays and Illumina’s deep sequencing technologies. Data analysis indicated a strong concordance (R=0.64) between exon array and RNA-seq in both gene level and exon level expression of transcripts. The magnitude of fold changes in the expression levels for the differentially expressed genes (p<0.05) was found to be higher in RNA-seq than microarrays. more...

Organism:: Homo sapiens

Type:: Expression profiling by array

Platform:: GPL5188
10 Samples

Download data: CEL

Series

Accession:: GSE31757

ID:: 200031757

PubMed Full text in PMC Similar studies Analyze with GEO2R

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