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TranscriptomicsHypervulnerability to sound-exposure through impaired adaptive proliferation of peroxisomes
A deficiency of pejvakin, a protein of unknown function, causes a strikingly heterogeneous form of deafness. Pejvakin-deficient (Pjvk-/-) mice also exhibited variable auditory phenotypes. Correlation between their hearing thresholds and the number of pups per cage suggested a possible harmful effect...
ORGANISM(S): Mus musculus 
2015-12-31 | E-GEOD-72722 | biostudies-arrayexpress
TranscriptomicsA survey of human brain transcriptome diversity at the single cell level
We used single cell RNA sequencing on 466 cells to capture the cellular complexity of the adult and fetal human brain at a whole transcriptome level. Healthy adult temporal lobe tissue was obtained from epileptic patients during temporal lobectomy for medically refractory seizures. We were able to c...
ORGANISM(S): Homo sapiens 
2015-05-20 | E-GEOD-67835 | biostudies-arrayexpress
TranscriptomicsGenome-Wide Expression Profiles in Very Low Birth Weight Infants With Neonatal Sepsis
Bacterial sepsis is associated with high morbidity and mortality in preterm infants. However, diagnosis of sepsis and identification of the causative agent remains challenging. Our aim was to determine genome-wide expression profiles of very low birth weight (VLBW) infants with and without bacterial...
ORGANISM(S): Homo sapiens 
2016-05-29 | E-MTAB-4785 | biostudies-arrayexpress
GenomicsThe molecular basis of inherited reproductive disorders

The purpose of this study is to discover genetic mutations in patients who have GnRH deficient states. This includes individuals with variant forms of hypogonadotropic hypogonadism, including individuals who have somatic anomalies involving mid-line facial defects, renal agenesis, synkinesia, and...

phs000475.v1.p1 | EGA
UnknownRisk factors for early mortality from lung cancer: evolution over the last 20 years in the French nationwide KBP cohorts.
Not available
S-EPMC11214995 | biostudies-literature
UnknownMeta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
Not available
S-EPMC3354734 | biostudies-literature
UnknownMutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.
Not available
S-EPMC2677501 | biostudies-literature
UnknownVariation in GIGYF2 is not associated with Parkinson disease.
Not available
S-EPMC2690967 | biostudies-literature
UnknownParkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations.
Not available
S-EPMC2715211 | biostudies-literature
UnknownCopy number variation in familial Parkinson disease.
Not available
S-EPMC3149037 | biostudies-literature
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