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TranscriptomicsXenografting of advanced stage breast cancer preserves the genomic and clonal architecture and captures luminal tumors harboring mutations and gene rearrangements in ESR1
End-stage breast cancers are clonally heterogeneous and harbor many poorly-understood treatment resistance mechanisms. We therefore established multiple Patient-Derived-Xenograft (PDX) models to study genomic events driving advanced disease. Comparative whole-genome sequencing of paired primary tu...
ORGANISM(S): Homo sapiens 
2013-12-22 | E-GEOD-46604 | biostudies-arrayexpress
UnknownMolecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Not available
S-EPMC6752266 | biostudies-literature
UnknownFamilial <i>NSD1</i> Exon 3 Deletion Associated with Phenotypic and Epigenetic Variability.
Not available
S-EPMC12563888 | biostudies-literature
GenomicsEGAS00001000167-sc-20150720 - samples
This project is to explore the contribution of de novo mutations to severe structural malformations diagnosed prenatally using ultrasound. These malformations include heart, CNS, renal and GI abnormalities. In this pilot project we aim to exome sequence 30 parent-foetus trios to ~50X mean coverage a...
EGAD00001001442 | EGA
GenomicsAbnormal foetal development exome trios
This project is to explore the contribution of de novo mutations to severe structural malformations diagnosed prenatally using ultrasound. These malformations include heart, CNS, renal and GI abnormalities. In this pilot project we aim to exome sequence 30 parent-foetus trios to ~50X mean coverage a...
EGAS00001000167 | EGA
UnknownFunctional Annotation of ESR1 Gene Fusions in Estrogen Receptor-Positive Breast Cancer.
Not available
S-EPMC6171747 | biostudies-literature
UnknownIdentification of 5 novel genes methylated in breast and other epithelial cancers.
Not available
S-EPMC2841122 | biostudies-literature
ProteomicsA novel HERC4-dependent glue degrader targeting STING
Stimulator of interferon genes (STING) is a central component of the pathway sensing the presence of cytosolic nucleic acids, having a key role in type I interferon innate immune response. Localized at the endoplasmic reticulum (ER), STING becomes activated by cGAMP, which is generated by the intrac...
ORGANISM(S): Homo sapiens (Human) 
2023-06-22 | PXD040291 | Pride
Targeted protein degradation Herc4 Glue degrader Tpd Sting 
UnknownSDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.
Not available
S-EPMC5441402 | biostudies-literature
UnknownEpigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.
Not available
S-EPMC10630252 | biostudies-literature
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