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UnknownThyroidal expression of ER molecular chaperone GRP170 is required for efficient TSH-mediated thyroid hormone synthesis.
Not available
S-EPMC12487683 | biostudies-literature
TranscriptomicsBulk RNA sequencing analysis of a patient with an immunodeficiency caused by a novel homozygous missense variant in HYOU1
In this study, we report a patient with a novel homozygous variant in HYOU1 (NM_001130991.3:c.1331C>A, p.Pro444His), who was born to related parents and presented with combined immunodeficiency, failure to thrive, and hypoglycemia. We undertook a multiomics analysis combining transcriptomics, prote...
ORGANISM(S): Homo sapiens 
2025-08-25 | E-MTAB-15443 | biostudies-arrayexpress
TranscriptomicsSingle-cell RNA sequencing analysis of circulating leucocytes and bone marrow cells from a patient with HYOU1 Pro444His variant and heatlhy controls
In this study, we report a patient with a novel homozygous variant in HYOU1 (NM_001130991.3:c.1331C>A, p.Pro444His), who was born to related parents and presented with combined immunodeficiency, failure to thrive, and hypoglycemia. We undertook a multiomics analysis combining transcriptomics, prote...
ORGANISM(S): Homo sapiens 
2025-01-29 | E-MTAB-14786 | biostudies-arrayexpress
ProteomicsTracking effects of SIL1 increase: taking a closer look beyond the consequences of elevated expression level
SIL1 acts as a co-chaperone for the major ER-resident chaperone BiP and thus plays a role in many BiP-dependent cellular functions such as protein folding control and unfolded protein response. Whereas increase of BiP upon cellular stress conditions is a well-known phenomenon, elevation of SIL1 unde...
ORGANISM(S): Homo sapiens (Human) 
2020-07-24 | PXD005218 | Pride
Bip/ grp78 Hyou1/ grp170 Marinesco-sjögren syndrome Co-chaperone Chaperonopathy Neuroprotection 
UnknownA multifunctional chimeric chaperone serves as a novel immune modulator inducing therapeutic antitumor immunity.
Not available
S-EPMC3618619 | biostudies-literature
UnknownEndoplasmic Reticulum Stress and Unfolded Protein Response in Vernal Keratoconjunctivitis.
Not available
S-EPMC11008754 | biostudies-literature
ProteomicsLC7 Proteomic Analysis of Matched Control and NSCLC Lung Adenocarcinoma Tissue.
Non-small cell lung adenocarcinoma is the most frequently diagnosed lung cancer type and remains the leading cause of cancer mortality for men and women in the United States. Management of lung cancer is hindered by high false-positive rates due to the inability to resolve benign versus malignant tu...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2017-03-31 | MSV000080825 | MassIVE
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