Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Expanding the novel neurocardiofacio(uro)digital MAPKAPK5?related developmental disorder?s genotype-phenotype correlation: patient report and 19-month follow-up.

ABSTRACT: Expanding the MAPKAPK5 genotype-phenotype correlation whose impairment in human development has been recently described as leading to a severe developmental disorder mainly characterized by neurological, cardiac, and facial anomalies combined with fingers and toe anomalies.

INSTRUMENT(S): -

ORGANISM(S): Homo Sapiens

SUBMITTER: Bambino Gesu Children Hospital

PROVIDER: PRJEB50475 | EVA | 2022-01-30

REPOSITORIES: EVA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	MAPKAPK5.vcf.gz	Vcf
	MAPKAPK5.vcf.gz.csi	Vcf
	MAPKAPK5.vcf.gz.tbi	Vcf

Items per page:

1 - 3 of 3

Similar Datasets

Genotype to phenotype

Project description:Correlation of resistance associated mutations and minimum inhibitory concentrations of 900 Mycobacterium tuberculosis complex isolates

| PRJEB48275 | ENA

SnoRNAs and miRNAs expression profiles underlying COVID-19 disease severity

Project description:The causative organism, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), exhibits a wide spectrum of clinical manifestations in disease-ridden patients. Differences in the severity of COVID-19 ranges from asymptomatic infections and mild cases to the severe form, leading to acute respiratory distress syndrome (ARDS) and multiorgan failure with poor survival. MiRNAs can regulate various cellular processes, including proliferation, apoptosis, and differentiation, by binding to the 3′UTR of target mRNAs inducing their degradation, thus serving a fundamental role in post-transcriptional repression. Alterations of miRNA levels in the blood have been described in multiple inflammatory and infectious diseases, including SARS-related coronaviruses. We used microarrays to delineate the miRNAs and snoRNAs signature in the peripheral blood of severe COVID-19 cases (n=9), as compared to mild (n=10) and asymptomatic (n=10) patients, and identified differentially expressed transcripts in severe versus asymptomatic, and others in severe versus mild COVID-19 cases. A cohort of 29 male age-matched patients were selected. All patients were previously diagnosed with COVID-19 using TaqPath COVID-19 Combo Kit (Thermo Fisher Scientific, Waltham, Massachusetts), or Cobas SARS-CoV-2 Test (Roche Diagnostics, Rotkreuz, Switzerland), with a CT value < 30. Additional criterion for selection was age between 35 and 75 years. Participants were grouped into severe, mild and asymptomatic. Classifying severe cases was based on requirement of high-flow oxygen support and ICU admission (n=9). Whereas mild patients were identified based on symptoms and positive radiographic findings with pulmonary involvement (n=10). Patients with no clinical presentation were labelled as asymptomatic cases (n=10).

2022-03-01 | E-MTAB-10970 | biostudies-arrayexpress

Nondystrophic Myotonias: Genotype-Phenotype Correlation and Longitudinal Study CINCH 5303

Project description:Nondystrophic Myotonias: Genotype-Phenotype Correlation and Longitudinal Study CINCH 5303

| PRJNA185249 | ENA

Episodic Ataxia Syndrome: Genotype-Phenotype Correlation and Longitudinal Study CINCH 5302

Project description:Episodic Ataxia Syndrome: Genotype-Phenotype Correlation and Longitudinal Study CINCH 5302

| PRJNA183662 | ENA

Andersen-Tawil Syndrome: Genotype-phenotype correlation and longitudinal study CINCH 5301

Project description:Andersen-Tawil Syndrome: Genotype-phenotype correlation and longitudinal study CINCH 5301

| PRJNA371671 | ENA

Bioactive decellularized extracellular matrix-based hydrogel supports human adipose tissue-derived stem cell maintenance and fibrocartilage phenotype

Project description:Decellularized extracellular matrix (dECM)-based hydrogels combined with hASCs could serve as an interface for studying behavior and differentiation properties in a cartilage microenvironment. In the present study, we described the behavior of hASCs cultured in a commercial dECM MatriXpec™. The protein composition of MatriXpec™ was accessed by mass spectrometry and is mainly represented by collagen proteins, building an hydrogel fibrous ultrastructure.

2023-12-22 | PXD047464 | Pride

Invasive infections caused by the recently described species Enterococcus innesii

Project description:Invasive infections caused by the recently described species Enterococcus innesii

| PRJEB76936 | ENA

Genotype and phenotype of COVID-19: Their roles in pathogenesis.

Project description:COVID-19 is a novel coronavirus with an outbreak of unusual viral pneumonia in Wuhan, China, and then pandemic. Based on its phylogenetic relationships and genomic structures the COVID-19 belongs to genera Betacoronavirus. Human Betacoronaviruses (SARS-CoV-2, SARS-CoV, and MERS-CoV) have many similarities, but also have differences in their genomic and phenotypic structure that can influence their pathogenesis. COVID-19 is containing single-stranded (positive-sense) RNA associated with a nucleoprotein within a capsid comprised of matrix protein. A typical CoV contains at least six ORFs in its genome. All the structural and accessory proteins are translated from the sgRNAs of CoVs. Four main structural proteins are encoded by ORFs 10, 11 on the one-third of the genome near the 3'-terminus. The genetic and phenotypic structure of COVID-19 in pathogenesis is important. This article highlights the most important of these features compared to other Betacoronaviruses.

| S-EPMC7138183 | biostudies-literature

Phenotype Genotype Biomarkers (PGB)

Project description:Phenotype Genotype Biomarkers (PGB)

| PRJNA815693 | ENA

Transcriptomic Profiling of Neutrophils and Low-Density Granulocytes in COVID-19 Patients

Project description:The severity of COVID-19 is linked to excessive inflammation. Neutrophils represent a critical arm of the innate immune response and are major mediators of inflammation, but their role in COVID-19 pathophysiology remains poorly understood. We conducted transcriptomic profiling of neutrophils obtained from patients with mild and severe COVID-19, as well as from non-infected healthy controls. Additionally, low-density granulocytes (LDGs) from patients with severe COVID-19 were included to understand their unique role. Transcriptomic analysis of polymorphonuclear cells (PMNs), consisting mainly of mature neutrophils, revealed a striking type I interferon (IFN-I) gene signature in severe COVID-19 patients, contrasting with mild COVID-19 and healthy controls. LDGs from severe COVID-19 patients exhibited an immature neutrophil phenotype and lacked this IFN-I signature. These findings underscore the crucial role of neutrophil inflammasomes in driving inflammation during severe COVID-19. The study provides insights into the pathological mechanisms of severe COVID-19 and highlights potential targets for therapeutic intervention.

2024-07-23 | GSE272381 | GEO