Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Congenital anosmia 1

ABSTRACT: Congenital anosmias can be complete (the lack of a sense of smell) or specific (the inability to detect specific smells). To date, only a single recessive gene underlying complete anosmia has been identified. Here we sequenced the exomes of 10 individuals from a single family, including three with complete anosmia, across three generations to identify the genetic basis of congenital anosmia in this family. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

PROVIDER: EGAS00001001124 | EGA |

REPOSITORIES: EGA

ACCESS DATA

Json Xml

Similar Datasets

EGAS00001001124-sc-20160622 - samples

Project description:Congenital anosmias can be complete (the lack of a sense of smell) or specific (the inability to detect specific smells). To date, only a single recessive gene underlying complete anosmia has been identified. Here we sequenced the exomes of 10 individuals from a single family, including three with complete anosmia, across three generations to identify the genetic basis of congenital anosmia in this family. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

| EGAD00001002210 | EGA

Congenital anosmia 2

Project description:Congenital anosmias can be complete (the lack of a sense of smell) or specific (the inability to detect specific smells). Here we obtained genomic DNA from families with multiple individuals with anosmia, suggesting they are congenital. These include those inherited in a manner consistent with dominant and recessive alleles. We have sequenced the exomes of both affected and unaffected family members on the Illumina platform.

| EGAS00001001429 | EGA

EGAS00001001429-sc-20160629 - samples

| EGAD00001002228 | EGA

Short-term consumption of ultra-processed diets impairs the sense of smell and brain physiology [Brain]

Project description:Considering the present scenario of fast-paced life, the major shifts in eating culture in the last five decades, and the crucial role of smell in food intake, it is thus crucial to map and better understand the effects of ultra-processed diets - especially under short-term regimens - on our brain metabolism and sense of smell. To address this question, we used mice to investigate the effects of the short-term consumption of three diets varying in macronutrient composition and origin (one whole-grain-based and two ultra-processed synthetic diets) on the transcriptional profiles of the olfactory mucosa and different brain regions.

2023-11-27 | GSE217835 | GEO

Short-term consumption of ultra-processed diets impairs the sense of smell and brain physiology [WOM]

2023-11-27 | GSE217836 | GEO

Characterization of PITH domain-containing protein 1 (C1orf128) functionality in olfactory metabolism

Project description:Taking into account the relevance of the smell sense in the early diagnosis of neurodegenerative diseases, we have analyzed the expression profile of the dark proteome across public proteomic and transcriptomic data derived from primary olfactory areas such as olfactory bulb (OB) and cleft mucus as well as from specific brain/OB cell linages. In this study, we have used an experimental workflow combining neuropathological diagnosis, co-regulation maps, physical and functional interaction data, transgenic models, intracellular and extracellular proteomics and immunohistochemical and biochemical approaches to partially decipher the UPE1 PITHD1 function in olfactory metabolism.

2020-11-19 | PXD018784 | Pride

Olfactory transcriptomics in mammals

Project description:The olfactory gene repertoire is largely species-specific, shaped by the nature and necessityof chemosensory information for survival in each species' niche. We are intrigued by thisinterspecific variation and aim to investigate the olfactory transcriptome across mammals forevidence of selection at the level of receptor gene choice. Having collected this data frommice and rats, we now wish to extend the analysis to cows, and three primates. All of whichhave a well annotated olfactory sub-genome.This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

2015-01-14 | E-ERAD-320 | biostudies-arrayexpress

RNA seq analysis of Escherichia coli ETEC samples

Project description:Study to generate lineage specific reference genomes using and RNAseq data.These data are part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

2016-01-19 | E-ERAD-422 | biostudies-arrayexpress

Transcriptome of the vomeronasal organ in Vmn2r1 knock out mice

Project description:<1. The vomeronasal organ (VNO) in the nose of most tetrapods is a sensory structure for the detection of pheromones and kairomones (intra-specific and inter-specific chemical signals) that initiate innate behaviours. It has two neuronal layers, each expressing distinct receptor sub-families coupled to different G-proteins. Neurones in the apical layer express a single vomeronasal receptor type 1 and the G?i2 G-protein. On the other hand, neurons in the basal layer express two or more vomeronasal receptors type-2 (V2Rs) and the G?o G-protein. In mice, V2Rs are organized into four families, A, B, D and C, with family-A and -C sub-divided into subfamilies A1-A10 and C1-C2. These gene families are expressed in a unique combinatorial pattern. Families A (subfamilies A1-A6), B and D are expressed monogenically and coexpress with the recently expanded family-C2 (6 genes, Vmn2r2 to Vmn2r7). While neurons expressing the phylogenetically ancient subfamily-C2 (1 gene, Vmn2r1) coexpress with family-BD and subfamilies A8-A10.We have generated a knock-out mouse for gene Vmn2r1 gene, using a Eucomm tm1b allele. This mouse is a valuable resource for further understanding the molecular organization of the VNO and its behavioural implications, in an evolutionary context. We propose here, to sequence the VNO of Vmn2r1 mutant mice. By studying the VNO transcriptome we hope to advance our knowledge of the genetic coding of pheromonal communication. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

2015-10-20 | E-ERAD-402 | biostudies-arrayexpress

CLASH RNAseq of RNP bound RNAs

Project description:We are investigating the possible role of ribonucleoprotein-bound RNAs on the pathogenesis of AML. This study uses antibody-pulldown of specific ribonucleoproteins followed by RANSeq. We hope to describe this interaction in wild type cells befire studying the effects of specific mutations This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

2014-03-25 | E-ERAD-226 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

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