Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Changes in centriole growth and dwarfism in reindeer

ABSTRACT: Changes in centriole growth and dwarfism in reindeer: the secrets of Santa’s little helper revealed by circumpolar whole-genome sequencing

PROVIDER: PRJEB37436 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	ERR4018503.fastq.gz	Fastqsanger.gz
	ERR4018504.fastq.gz	Fastqsanger.gz
	ERR4018505.fastq.gz	Fastqsanger.gz
	ERR4018506.fastq.gz	Fastqsanger.gz
	ERR4018507.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 6

Similar Datasets

Dwarfism in Dalmatians

Project description:Dwarfism in Dalmatians

| PRJEB79353 | ENA

Reindeer genome

Project description:Reindeer CWD genome

| PRJEB83629 | ENA

A Mid-Holocene reindeer antler from Regstrup, Sjælland, Denmark

Project description:A small, shed antler fragment of a reindeer from Sjælland, Denmark has been dated to the Mid-Holocene, ca., 4700 cal B.C. Reindeer was an important component of the Lateglacial fauna in Denmark, and the species survived for ca. 1400 years into the Holocene. However, we consider it highly unlikely that this species inhabited Denmark during the Mid-Holocene, when dense forests characterized the vegetation and summer temperatures were somewhat higher than at present. We suggest that the reindeer antler came to Sjælland from Norway or Sweden as a result of trade, perhaps involving flint.

2021-11-25 | PXD024143 | Pride

Reindeer adipose transcriptome

Project description:Reindeer adipose transcriptome

| PRJEB44094 | ENA

Reindeer Adipose Transcriptome

Project description:Reindeer Adipose RNA-Seq

| PRJEB47057 | ENA

Reindeer genome

Project description:Reference genome of a Fennoscandian Reindeer

| PRJEB65312 | ENA

Reindeer lichens

Project description:Geography shapes bacterial community in reindeer lichens

| PRJNA687262 | ENA

Reindeer hybridization

Project description:Hybridization with wild individuals fuels reindeer feralization

| PRJEB106450 | ENA

Reindeer genomics

Project description:Genome sequence and comparative analysis of reindeer (Rangifer tarandus) in northern Eurasia

| PRJEB37216 | ENA

Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients.

Project description:Ataxia telangiectasia and Rad3-related (ATR) kinase and its interacting protein ATRIP orchestrate the replication stress response. Homozygous splice variants in the ATRIP gene, resulting in ATRIP deficiency, were identified in two patients of independent ancestry with microcephaly, primordial dwarfism, and recurrent infections. The c.829+5G>T patient exhibited lymphopenia, poor vaccine responses, autoimmune features with hemolytic anemia, and neutropenia. Immunophenotyping revealed reduced CD16+/CD56dim NK cells and absent naïve T cells, MAIT cells, and iNKT cells. Lymphocytic defects were characterized by TCR oligoclonality, abnormal class switch recombination, and impaired T cell proliferation. ATRIP deficiency resulted in low-grade ATR activation but impaired CHK1 phosphorylation under genotoxic stress. ATRIP-deficient cells inadequately regulated DNA replication, leading to chromosomal instability, compromised cell cycle control, and impaired cell viability. CRISPR-SelectTIME confirmed reduced cell fitness for both variants. This study establishes ATRIP deficiency as a monogenic cause of microcephalic primordial dwarfism, highlights ATRIP's critical role in protecting immune cells from replication stress, and offers new insights into its canonical functions.

2024-12-19 | GSE284526 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data