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ProteomicsGain-of-function mutations amplify cytotoxic FAM111 protease activity in poikiloderma, gracile bone dysplasia and Kenny-Caffey syndromes
Dominant missense mutations in the human serine protease FAM111A underlie perinatally lethal gracile bone dysplasia and Kenny-Caffey syndrome 1-3, yet how FAM111A mutations lead to disease is not known. We show that FAM111A proteolytic activity suppresses DNA replication and transcription by displac...
ORGANISM(S): Homo sapiens (Human) 
2020-08-10 | PXD017978 | Pride
Kenny-caffey syndromes Fam111 Genetic disorder Poikiloderma Proteases Replication stress Transcrition 
UnknownTBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
Not available
S-EPMC5065657 | biostudies-literature
TranscriptomicsThe effect of transfected miR-10a in IL-1beta-stimulated and non-stimulated keratinocytes
miR-10a has been shown to regulate proliferation and invasiveness of cancer cells and inflammatory responses of endothelial cells. The function of miR-10a in the skin has not been studied before. Here we examined miR-10a expression, regulation and functions in keratinocytes (KCs) in association with...
ORGANISM(S): Homo sapiens 
2019-09-01 | E-MTAB-7245 | biostudies-arrayexpress
TranscriptomicsBone marrow-derived and resident liver macrophages display unique transcriptomic signatures but similar biological functions
Liver macrophages play a major role in the control of infections in the liver and in the pathology associated with chronic liver diseases. It was recently shown that liver macrophages can have two different origins, however, the extent to which these populations are functionally distinct remains to ...
ORGANISM(S): Mus musculus 
2016-07-28 | E-MTAB-4954 | biostudies-arrayexpress
TranscriptomicsCD40-mediated amplification of local immunity by keratinocytes in impaired by HPV
The interaction between the transmembrane glycoprotein surface receptor CD40 expressed by skin keratinocytes (KCs) and its T cell-expressed ligand CD154 was suggested to exacerbate inflammatory skin diseases. However, the full spectrum of CD40-mediated effects by KCs underlying this observation is u...
ORGANISM(S): Homo sapiens 
2015-10-26 | E-GEOD-54181 | biostudies-arrayexpress
TranscriptomicsLXR mediated-signalling protects human hair follicles against doxorubicin-induced toxicity ex vivo
Although chemotherapy-induced alopecia (CIA) is one of the most distressing adverse effects of cancer treatment, there are still no pharmacological interventions available and there remains an urgent unmet need to identify novel targets for therapy. We hypothesized that selected compounds which enha...
ORGANISM(S): Homo sapiens 
2021-02-19 | E-MTAB-9362 | biostudies-arrayexpress
TranscriptomicsNutrient-Regulated Antisense and Intragenic RNAs Modulate a Signal Transduction Pathway
The budding yeast Saccharomyces cerevisiae alters its gene expression profile in response to a change in nutrient availability. The PHO-system is a well-studied case in the transcriptional regulation responding to nutritional changes in which a set of genes (PHO genes) is expressed to activate phosp...
ORGANISM(S): Saccharomyces cerevisiae 
2008-12-23 | E-GEOD-13350 | biostudies-arrayexpress
TranscriptomicsHuman keratinocytes have a response to injury that upregulates CCL20 and other genes linking innate and adaptive immunity
In the early stages of wound healing, keratinocytes become “activated” and release inflammatory molecules such as interleukin-1 and interleukin-8 that are linked to innate immune responses and neutrophil recruitment. It is unclear, however, whether keratinocytes release molecules linked to adaptive ...
ORGANISM(S): Homo sapiens 
2011-09-19 | E-GEOD-30355 | biostudies-arrayexpress
ProteomicsThe cellular and proteomic response of primary and immortalized murine Kupffer cells following immune stimulation diverges from that of monocyte-derived macrophages
Kupffer cells are the first line of defense in the liver against pathogens, yet several microbes successfully target the liver, bypass immune surveillance, and effectively develop in this tissue. Our current, albeit poor, understanding of Kupffer cell-pathogen interactions has been largely achieved ...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2016-07-22 | MSV000079995 | MassIVE
TranscriptomicsAMPK epidermal inhibition promotes HuR cytoplasmic localization eliciting post-transcriptional inflammatory response in psoriasis
IL-20 cytokines are involved in the establishment of psoriasis, a common chronic skin inflammation epidemiologically associated with metabolic syndrome, but molecular mechanisms underlying their over-expression remain to be elucidated. We find that keratinocytes (KCs) expressed IL-20 and lymphocytes...
ORGANISM(S): Homo sapiens 
2015-09-08 | E-GEOD-50598 | biostudies-arrayexpress
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