Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Canine cerebrum RNAseq, Border Collie Breed, sensory neuropathy case

ABSTRACT: Canine cerebrum RNAseq, Border Collie Breed, sensory neuropathy case

PROVIDER: PRJEB12352 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	ERR1210829_1.fastq.gz	Fastqsanger.gz
	ERR1210829_2.fastq.gz	Fastqsanger.gz

Items per page:

1 - 2 of 2

Similar Datasets

Canine whole genome sequence, Border Collie Breed

Project description:Canine whole genome sequence, Border Collie Breed, sensory neuropathy case

| PRJEB12337 | ENA

Border Collie goniodysgenesis and glaucoma

Project description:Arginine to glutamine mutation in olfactomedin-like 3 (OLFML3) is a candidate for severe goniodysgenesis and glaucoma in the Border Collie dog breed

| PRJEB28141 | ENA

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed.

Project description:Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age. Using a genome-wide association study approach with three cases and 170 breed matched controls, a suggestive locus for sensory neuropathy was identified that was followed up using a genome sequencing approach. An inversion disrupting the candidate gene FAM134B was identified. Genotyping of additional cases and controls and RNAseq analysis provided strong evidence that the inversion is causal. Evidence of cryptic splicing resulting in novel exon transcription for FAM134B was identified by RNAseq experiments. This investigation demonstrates the identification of a novel sensory neuropathy associated mutation, by mapping using a minimal set of cases and subsequent genome sequencing. Through mutation screening, it should be possible to reduce the frequency of or completely eliminate this debilitating condition from the Border Collie breed population.

| S-EPMC5015927 | biostudies-literature

Danionella cerebrum

Project description:Danionella cerebrum overview

| PRJNA1087479 | ENA

Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathy

Project description:Genetic pain loss disorders represent a heterogeneous group of rare diseases mainly characterized by defective nociception. Understanding the underlying molecular mechanism is fundamental to improve the treatment of patients affected by these rare disorders. Feline Leukemia Virus Subgroup C Receptor 1 (FLVCR1) is one of the genes previously associated with sensory neuropathy that require further investigation. Here, we report on two additional patients with novel disease-causing variants in FLVCR1 and introduce a zebrafish model of the disease. The analyses of patient-derived fibroblasts showed that distinct FLVCR1 variants compromised all the known functions associated with FLVCR1, thus affecting choline levels, heme biosynthesis and mitochondrial Ca2+ handling. Furthermore, we provide evidence that the alteration of these processes impairs TCA cycle and OXPHOS, and induces lipid peroxidation. Our data points to the alterations of energetic metabolism as a potential driving pathomechanism in FLVCR1-associated sensory neuropathy.

2026-02-02 | PXD071580 | Pride

Expression quantitative trait locus analysis of chicken cerebrum

Project description:This data originates from an expression quantitative trait locus analysis of cerebrum in an advanced intercross of Red Jungefowl and White Leghorn chickens. The aim of the study was to map the genetic basis of cerebrum and body mass, and idenifiy transcriptional differences within the intercross to assess any candidate genes for cerebrum and body mass.

2020-07-07 | E-MTAB-9313 | biostudies-arrayexpress

Transcription profiling of human fetal cerebellum, heart, cerebrum, and cerebrum derived astrocyte cell line from trisomy 21 and trisomy 13 samples

Project description:Gene expression was measured in trisomy 21 and trisomy 13 human fetal samples. For TS21, regions assayed were cerebrum, cerebellum, heart, and cerebrum-derived astrocyte cell lines.

2008-06-11 | E-GEOD-1397 | biostudies-arrayexpress

Danionella cerebrum

Project description:Ultra-small vertebrate brain and rich behavior of transparent Danionella cerebrum

| PRJNA445947 | ENA

Progressive retinal atrophy in the Border Collie: a new XLPRA.

Project description:BackgroundSeveral forms of progressive retinal atrophy (PRA) segregate in more than 100 breeds of dog with each PRA segregating in one or a few breeds. This breed specificity may be accounted for by founder effects and genetic drift, which have reduced the genetic heterogeneity of each breed, thereby facilitating the identification of causal mutations. We report here a new form of PRA segregating in the Border Collie breed. The clinical signs, including the loss of night vision and a progressive loss of day vision, resulting in complete blindness, occur at the age of three to four years and may be detected earlier through systematic ocular fundus examination and electroretinography (ERG).ResultsOphthalmic examinations performed on 487 dogs showed that affected dogs present a classical form of PRA. Of those, 274 have been sampled for DNA extraction and 87 could be connected through a large pedigree. Segregation analysis suggested an X-linked mode of transmission; therefore both XLPRA1 and XLPRA2 mutations were excluded through the genetic tests.ConclusionHaving excluded these mutations, we suggest that this PRA segregating in Border Collie is a new XLPRA (XLPRA3) and propose it as a potential model for the homologous human disease, X-Linked Retinitis Pigmentosa.

| S-EPMC2324077 | biostudies-literature

Macrophages protect against sensory axon degeneration in diabetic neuropathy

Project description:Macrophages protect against sensory axon degeneration in diabetic neuropathy

| PRJNA1075431 | ENA