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ProteomicsIntegrative Network Analysis Reveals USP7 Haploinsufficiency Inhibits E-protein Activity in Pediatric T-lineage Acute Lymphoblastic Leukemia (T-ALL)
USP7, which encodes a deubiquitylating enzyme, is among the most frequently mutated genes in pediatric T-ALL, with somatic heterozygous loss-of-function mutations (haploinsufficiency) predominantly affecting the subgroup that has aberrant TAL1 oncogene activation. Network analysis of >200 T-ALL tran...
ORGANISM(S): Homo sapiens (Human) 
2021-03-16 | PXD023377 | Pride
Tal1 T-all Usp7 
TranscriptomicsDiscovery of novel recurrent mutations and rearrangements in early T-cell precursor acute lymphoblastic leukemia by whole genome sequencing
Early T-cell precursor acute lymphoblastic leukaemia (ETP ALL) is an aggressive malignancy of unknown genetic basis. We performed whole genome sequencing of tumour and normal DNA from 12 children with ETP ALL and assessed the frequency of somatic alterations in 52 ETP and 42 non-ETP T-ALL samples by...
ORGANISM(S): Homo sapiens 
2011-11-23 | E-GEOD-28703 | biostudies-arrayexpress
ProteomicsExpression of a surfactant protein C mutation impairs postnatal expansion of alveolar type 2 epithelial cells leading to permanent cell loss and decreased repair capacity in adult lungs
Mutations in the gene encoding surfactant protein C (SFTPC) are associated with interstitial lung disease in children and adults. To assess the natural history of disease, we knocked-in a familial, disease-associated SFTPC mutation, L188Q (L184Q in mice), into the mouse Sftpc locus. Expression of th...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2020-08-19 | MSV000085976 | MassIVE
TranscriptomicsTemporal examination of Clofibrate and WY-14,643 elicited gene expression in C57BL/6 mice
Temporal hepatic gene expression elicited by PPARα agonists Clofibrate and WY-14,643 was examined. These data were used to select PPARα regulated genes that may demonstrate species-specific regulation for assessment by QRT-PCR in a novel human adult stem cell model. Three biological replicates for e...
ORGANISM(S): Mus musculus 
2013-06-12 | E-GEOD-47844 | biostudies-arrayexpress
TranscriptomicsRequirement for Sun1 in the expression of meiotic reproductive genes and piRNA
The inner nuclear envelope (NE) proteins interact with the nuclear lamina and participate in the architectural compartmentalization of chromosomes. The association of NE proteins with DNA contributes to the spatial rearrangement of chromosomes and their gene expression. Sun1 is an inner nuclear memb...
ORGANISM(S): Mus musculus 
2009-03-11 | E-GEOD-12867 | biostudies-arrayexpress
Genomicsena-DATASET-DCPTCUHK-01-02-2019-02:28:02:357-70 - samples
DNA-seq from plasma of 14 liver transplantation patients
EGAD00001004590 | EGA
GenomicsDNA-seq from plasma of 14 liver transplantation patients
We performed DNA sequencing on the plasma of 14 liver transplantation patients to study the liver DNA in the plasma.
EGAS00001003116 | EGA
ProteomicsIn-depth Serum Proteomics in Psoriasis reveals novel biomarkers for disease activity and response to Traditional Chinese Medicine
demonstrate the clinical utility of our in-depth serum proteomics platform to identify specific diagnostic and predictive biomarkers for psoriasis, suggesting a great potential for application in translation studies and precision medicine in psoriasis and other immune-mediated diseases
ORGANISM(S): Homo Sapiens 
2019-03-13 | PXD013089 |
GenomicsPCGP Ph-like ALL
Background: BCR-ABL1-like, or Ph-like acute lymphoblastic leukemia is characterized by a gene expression profile similar to BCR-ABL1 positive ALL, genetic alterations of lymphoid transcription factor genes, and poor outcome. Sequencing of small numbers of Ph-like ALL cases has identified genetic alt...
EGAS00001000654 | EGA
GenomicsThe clonal and mutational evolution spectrum of primary triple negative breast cancers
Primary triple negative breast cancers (TNBC) represent approximately 16% of all breast cancers and are a tumour type defined by exclusion,for which comprehensive landscapes of somatic mutation have not been determined. Here we show in 104 early TNBC cases, that at the time of diagnosis these cancer...
EGAS00001000132 | EGA
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