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TranscriptomicsFormaldehyde-induced changes in microRNA signaling [Agilent]
MicroRNAs (miRNAs) are critical regulators of gene expression, yet much remains unknown regarding miRNA changes resulting from environmental exposures and whether they influence pathway signaling across various tissues and time. To gain knowledge on these novel topics, we set out to investigate in v...
ORGANISM(S): Rattus norvegicus 
2014-01-07 | E-GEOD-42393 | biostudies-arrayexpress
TranscriptomicsFormaldehyde-induced changes in microRNA signaling [Affymetrix]
In addition to gaining knowledge on in vivo miRNA responses to formaldehyde, we set out to relate these miRNA responses to transcriptional profiles modified by formaldehyde. Rats were exposed by inhalation to either 0 or 2 ppm formaldehyde (6 hours/day) for 28 days. Genome-wide transcriptional profi...
ORGANISM(S): Rattus norvegicus 
2014-01-07 | E-GEOD-42394 | biostudies-arrayexpress
GenomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

We conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (c.G1075A, NM_000248.3; p.E318K, NP_000239.1; rs149617956) in the melanoma lineage-specific oncogene MITF. While the variant cosegregated with melanoma in ...

phs000419.v1.p1 | EGA
TranscriptomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
We identified a novel germline mutation of the microphthalmia-associated transcription factor (MITF - E318K). This mutation was found to be present in numerous melanoma families, as well as the general population, where its association with melanoma has a significant effect. We determined the effe...
ORGANISM(S): Homo sapiens 
2011-12-01 | E-GEOD-31269 | biostudies-arrayexpress
GenomicsEGAS00001000017-sc-20110505 - samples
Familial Melanoma Sequencing
EGAD00001000016 | EGA
GenomicsFamilial Melanoma Sequencing
In this experiment we have sequenced the exome of 15 individuals from eight families who have familial melanoma. By sequencing the exome we hope to be able to identify new genes that are associated with this disease.
EGAS00001000017 | EGA
UnknownA syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Not available
S-EPMC10806447 | biostudies-literature
UnknownComplement genes contribute sex-biased vulnerability in diverse disorders.
Not available
S-EPMC7319891 | biostudies-literature
UnknownA polygenic resilience score moderates the genetic risk for schizophrenia.
Not available
S-EPMC7058518 | biostudies-literature
UnknownA prognostic model for use before elective surgery to estimate the risk of postoperative pulmonary complications (GSU-Pulmonary Score): a development and validation study in three international cohorts.
Not available
S-EPMC12056793 | biostudies-literature
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