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TranscriptomicsRNA-seq profiling of MED patient-derived (MATN3 V194D) and unaffected iPSC-chondrogenesis
PBMCs from MED patients carrying the MATN3 V194D mutation and unaffected controls were reprogrammed into hiPSCs. Samples were differentiated into Day 21 cartilage pellets via an iMSC intermediate.
ORGANISM(S): Homo sapiens 
2026-02-12 | E-MTAB-16600 | biostudies-arrayexpress
TranscriptomicsRNA-seq profiling of MED patient-derived (MATN3 T195K) and unaffected iPSC-chondrogenesis
PBMCs from MED patients carrying the MATN3 T195K mutation and unaffected controls were reprogrammed into hiPSCs using Sendai virus. Data includes three differentiation stages: pluripotent hiPSCs, iMSCs, and Day 21 cartilage pellets. Sequencing was performed at the University Genomics Core Facility.
ORGANISM(S): Homo sapiens 
2026-02-12 | E-MTAB-16598 | biostudies-arrayexpress
TranscriptomicsTranscriptomic time-series of human embryonic stem cell differentiation to hypertrophic-like chondrocytes via a mesenchymal intermediate
This study characterizes the gene expression changes during the differentiation of the human embryonic stem cell (hESC) line Man13 into hypertrophic-like cartilage pellets. Samples include five key stages: pluripotent cells (TeSR™-E8™), induced mesenchymal stromal cells (iMSCs), and three-dimensiona...
ORGANISM(S): Homo sapiens 
2026-02-12 | E-MTAB-16597 | biostudies-arrayexpress
TranscriptomicsGene expression profile of control and CRISPR-edited MATN3 V194D mutant Day 21 cartilage pellets differentiated from the human ESC line MAN13
RNA-seq of control and MATN3 V194D mutant cartilage pellets. The MATN3 V194D mutation was introduced using CRISPR-Cas9 in pluripotent cells before differentiation through an iMSC intermediate to Day 21 cartilage pellets.
ORGANISM(S): Homo sapiens 
2026-02-12 | E-MTAB-16599 | biostudies-arrayexpress
TranscriptomicsmiRNA profiling of Melanoma Cell lines and Normal Melanocytes
To identify microRNAs potentially involved in melanomagenesis we compared microRNA transcription profiles between melanoma cell lines and cultured melanocytes. miRNA microarrays were manufactured by Agilent Technologies (Santa Clara, CA), and contain 20-40 features targeting each of 470 human miRNAs...
ORGANISM(S): Homo sapiens 
2011-10-16 | E-GEOD-25653 | biostudies-arrayexpress
TranscriptomicsGene expression profile of TGFβ3 stimulation and TRPV4 activation/inhibition in the TC28a2 human chondrocyte cell line
RNA-seq of TC28a2 cells following TRPV4 activation/inhibition in the presence and absence of prior TGFβ3 stimulation. The experiment was performed to determine the effect of TRPV4 activity on gene expression in the presence and absence of TGFβ stimulation. TGFβ3 was used to stimulate TGFβ signalling...
ORGANISM(S): Homo sapiens 
2022-01-17 | E-MTAB-10279 | biostudies-arrayexpress
UnknownEffectiveness of the Interdisciplinary Home-bAsed Reablement Programme (I-HARP) on improving functional independence of people living with dementia: a multicentre, pragmatic, randomised, open-label, controlled trial.
Not available
S-EPMC12322460 | biostudies-literature
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
UnknownGlobal surveillance of trends in cancer survival 2000-14 (CONCORD-3): analysis of individual records for 37 513 025 patients diagnosed with one of 18 cancers from 322 population-based registries in 71 countries.
Not available
S-EPMC5879496 | biostudies-literature
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