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UnknownCapturing and Documenting the Wider Health Impacts of the COVID-19 Pandemic Through the Remember Rebuild Saskatchewan Initiative: Protocol for a Mixed Methods Interdisciplinary Project.
Not available
S-EPMC10282902 | biostudies-literature
UnknownCost-Effectiveness of Treatments after Closed Extraarticular Distal Radius Fractures in Older Adults from the WRIST Clinical Trial.
Not available
S-EPMC7855198 | biostudies-literature
UnknownDominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Not available
S-EPMC11206234 | biostudies-literature
ProteomicsTIMEPOINT, a phase 1 study of MTL-CEBPA in combination with pembrolizumab, supports the immunomodulatory effect of MTL-CEBPA in solid tumours.
Many cancer patients don’t benefit from currently-approved immune checkpoint inhibitors (ICI), suggesting that additional immunomodulation of the immunosuppressive tumour microenvironment (TME) is required. MTL-CEBPA specifically upregulates expression of master myeloid transcription factor, CEBPA, ...
ORGANISM(S): Homo sapiens (Human) 
2025-05-07 | PXD060726 | Pride
Human Cancer Plasma proteome Immunomodulatory 
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
GenomicsUC
WTCCC2 project Ulcerative Colitis (UC) samples
EGAD00000000025 | EGA
GenomicsWTCCC2 case-control study for Ulcerative Colitis
WTCCC2 project genome-wide case-control association study for Ulcerative Colitis (UC) using the 1958 British Birth Cohort and the UK National Blood Service collections as controls.
EGAS00000000084 | EGA
GenomicsWTCCC2 project controls - 1958 British Birth Cohort and National Blood Service
WTCCC2 project controls - 1958 British Birth Cohort and National Blood Service
EGAS00000000028 | EGA
UnknownDried blood spot real-time polymerase chain reaction assays to screen newborns for congenital cytomegalovirus infection.
Not available
S-EPMC2997517 | biostudies-literature
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