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TranscriptomicsTranscription profiling of human cell lines from Hay Wells Syndrome-Derived TAp63alphaQ540L mutant rveals impaired transcriptional and cell growth regulatory activity
p63 mutations have been associated with several human hereditary disorders characterized by ectodermal dysplasia such as EEC syndrome, ADULT syndrome and AEC syndrome . The location and functional effects of the mutations that underlie these syndromes reveal a striking genotype-phenotype correlati...
ORGANISM(S): Homo sapiens 
2008-06-16 | E-GEOD-8646 | biostudies-arrayexpress
TranscriptomicsGlobal gene expression profiles in ovarian cancer linked to Lynch syndrome
Heredity is a major cause of ovarian cancer. Lynch syndrome is associated with 10-12% risk of ovarian cancer, diagnosis at young age and a predilection for endometrioid and clear cell tumors. Global gene expression profiling applied to 25 Lynch syndrome-associated and 42 sporadic ovarian cancers rev...
ORGANISM(S): Homo sapiens 
2013-10-14 | E-GEOD-37394 | biostudies-arrayexpress
TranscriptomicsTranscript profiling of the pea shoot apical meristem highlights processes underlying its function and maintenance
Plant growth is the result of cell proliferation in the meristems, which requires a dynamic balance between the formation of new tissue and the maintenance of a set of undifferentiated stem cells. There is much that remains unknown about this vital developmental process. In this study, we have repor...
ORGANISM(S): Pisum sativum 
2010-05-19 | E-GEOD-9278 | biostudies-arrayexpress
TranscriptomicsNAT10 inhibition improves cellular phenotypes of Hutchinson-Gilford progeria syndrome by restoring the Transportin-1 pathway
In this experiment, we aim to examine the role of NAT10 inhibition in Hutchinson-Gilford progeria syndrome (HGPS), a rare but devastating premature ageing syndrome caused by a mutation in the LMNA gene. NAT10 inhibition improves HGPS cellular phenotypes by releasing Transportin-1 (TNPO1) from the cy...
ORGANISM(S): Homo sapiens 
2018-06-25 | E-MTAB-6651 | biostudies-arrayexpress
ProteomicsUrinary metabolomics analysis based on LC-MS for diagnosis and monitoring of Acute coronary syndrome
Acute coronary syndrome (ACS) is a kind of cardiovascular disease caused by acute myocardial ischemia. The aim of this study was to use urine metabolomics to explore the potential biomarkers for the diagnosis of ACS and the changes in metabolites during the development of the disease.
ORGANISM(S): Homo Sapiens 
2024-12-03 | PXD058501 |
TranscriptomicsGene expression signature of cerebellum hypoplasia in a mouse model of Down syndrome (Part II).
We designed a large scale gene expression study in cerebellar external granular layer in Ts1Cje mice at P0 in order to measure the effects of trisomy 21 on in a enriched cell population (dissected layer) that is affected in Down syndrome in order to correlate gene expression changes to the phenotype...
ORGANISM(S): Mus musculus 
2008-03-31 | E-GEOD-11472 | biostudies-arrayexpress
TranscriptomicsTranscriptome analyses of ragged seedling2 shoot apical meristem (SAM) vs non-mutant SAM
The recessive mutation ragged seedling2-R (rgd2-R) conditions defective lateral development of maize leaves. Although dorsiventral patterning is established in rgd2-R mutant leaves, some swapping of adaxial/abaxial epidermal identity may occur. Molecular analyses indicate that RGD2 is required for...
ORGANISM(S): Zea mays 
2008-05-02 | E-GEOD-11325 | biostudies-arrayexpress
UnknownThe Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome.
Not available
S-EPMC7039747 | biostudies-literature
TranscriptomicsGene expression profiling in whole blood in patients for KlinefelterM-bM-^@M-^Ys Syndrome
To study the difference of gene expression pattern of whole blood between klinefelterM-bM-^@M-^Ys syndrome and normal individuals and discovered the disease-related genes and biological pathway. 717 differentially expressed genes (480 up regulated, 237 down regulated) were identified between whole b...
ORGANISM(S): Homo sapiens 
2013-09-01 | E-GEOD-47584 | biostudies-arrayexpress
TranscriptomicsWilliams-Beuren syndrome: typical deletions versus atypical deletions of the 7q11.23 region
We have performed comparative transcriptome profile from lymphoblastoid cell lines from four Williams-Beuren syndrome patients and two patients with partial deletions of the region. The goal was to find deregulated genes specifically in WBS versus atypical deletions, and to determine the biological ...
ORGANISM(S): Homo sapiens 
2010-09-09 | E-GEOD-18188 | biostudies-arrayexpress
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