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TranscriptomicsBlood pooling experiments on ophthalmalogic phenotypes with Illumina arrays
In this study 3 pooling experiments were performed. In each of the 3 cohorts, a 'case' and a 'control' blood pool was compared - the goal being to identify single nucleotide polymorphisms with significantly different estimated pooling allele frequencies between cases and controls. For cohort 1, 100 ...
ORGANISM(S): Homo sapiens 
2009-08-08 | E-GEOD-17557 | biostudies-arrayexpress
UnknownGenetic Associations Between Smoking- and Glaucoma-Related Traits.
Not available
S-EPMC9932549 | biostudies-literature
TranscriptomicsTranscriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration
To identify disease-specific transcriptional programs in retinal pigment epithelium (RPE) cells, fibroblasts from 43 patients with geographic atrophy (GA) were reprogrammed into induced pluripotent stem cells (iPSCs) before being differentiated into RPE and compared to those from 36 healthy individu...
ORGANISM(S): Homo sapiens 
2022-06-20 | E-MTAB-11642 | 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
UnknownThe Association of Alcohol Consumption with Glaucoma and Related Traits: Findings from the UK Biobank.
Not available
S-EPMC10239785 | biostudies-literature
UnknownGlobal COVID-19 lockdown highlights humans as both threats and custodians of the environment.
Not available
S-EPMC8135229 | biostudies-literature
UnknownCommon variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.
Not available
S-EPMC4747430 | biostudies-literature
UnknownActive symptom control with or without chemotherapy in the treatment of patients with malignant pleural mesothelioma (MS01): a multicentre randomised trial.
Not available
S-EPMC2431123 | biostudies-literature
UnknownPlasma AR Alterations and Timing of Intensified Hormone Treatment for Prostate Cancer: the STAMPEDE Phase 3 Randomized Clinical Trial.
Not available
S-EPMC11869088 | biostudies-literature
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