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ProteomicsaPKC controls endothelial growth by modulating c-Myc via FoxO1 DNA binding ability
Strict regulation of proliferation is vital for development, whereas unregulated cell proliferation is a fundamental characteristic of cancer. The polarity protein atypical protein kinase C lambda/iota (aPKC lambda) is associated with cell proliferation through unknown mechanisms. In endothelial ce...
ORGANISM(S): Homo sapiens (Human) 
2019-11-12 | PXD011595 | Pride
Human Human Foxo1 Immuno precipitation Apk C-myc 
ProteomicsDigenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome
Enlarged vestibular aqueducts (EVA) is one of the most commonly identified inner ear malformations in hearing loss patients including Pendred syndrome. While biallelic mutations of the SLC26A4 gene, encoding pendrin, causes non-syndromic hearing loss with EVA or Pendred syndrome, a considerable numb...
ORGANISM(S): Homo sapiens (Human) 
2020-04-22 | PXD017011 | Pride
Pendred syndrome Epha2 Ephrin-b2 
UnknownFabrication of an anatomy-mimicking BIO-AIR-TUBE with engineered cartilage.

Introduction

We devised a strategy for the fabrication of an 'anatomy-mimicking' cylinder-type engineered trachea combined with cartilage engineering. The engineered BIOTUBEs are used to support the architecture of the body tissue, for long-segment trachea (>5 cm) with carinal reconstruction...
S-EPMC6700413 | biostudies-literature
UnknownDysuricemia.
Gout results from elevated serum urate (SU) levels, or hyperuricemia, and is a globally widespread and increasingly burdensome disease. Recent studies have illuminated the pathophysiology of gout/hyperuricemia and its epidemiology, diagnosis, treatment, and complications. The genetic involvement of ...
S-EPMC10740884 | biostudies-literature
UnknownPorphyrin accumulation in humans with common dysfunctional variants of ABCG2, a porphyrin transporter: potential association with acquired photosensitivity.
Photosensitivity is a skin reaction disorder mediated by phototoxic and/or photoallergic mechanisms. The accumulation of porphyrins is generally considered to induce phototoxicity. ATP-binding cassette subfamily G member 2 (ABCG2) has been identified as a transporter of porphyrins and its common var...
S-EPMC8197704 | biostudies-literature
UnknownUtility of a rapid assay for prostaglandin E-major urinary metabolite as a biomarker in pediatric ulcerative colitis.
Prostaglandin E-major urinary metabolite (PGE-MUM) is a urinary biomarker reflecting ulcerative colitis (UC) activity. This prospective observational study aimed to evaluate the usefulness of PGE-MUM via rapid chemiluminescent enzyme immunoassay in detecting endoscopic remission (ER) and histologic ...
S-EPMC10279732 | biostudies-literature
UnknownABCG2 variant has opposing effects on onset ages of Parkinson's disease and gout.
Uric acid (urate) has been suggested to play a protective role in Parkinson's disease onset through its antioxidant activity. Dysfunction of ABCG2, a high-capacity urate exporter, is a major cause for early-onset gout based on hyperuricemia. In this study, the effects of a dysfunctional ABCG2 varian...
S-EPMC4369280 | biostudies-literature
UnknownMultiple common and rare variants of ABCG2 cause gout.

Objective

Previous studies have suggested an association between gout susceptibility and common dysfunctional variants in ATP-binding cassette transporter subfamily G member 2/breast cancer resistance protein (ABCG2/BCRP), including rs72552713 (Q126X) and rs2231142 (Q141K). However, t...
S-EPMC5706492 | biostudies-literature
UnknownIdentification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families.
Not available
S-EPMC7733723 | biostudies-literature
UnknownSNP-based heritability estimates of gout and its subtypes determined by genome-wide association studies of clinically defined gout.
Not available
S-EPMC10152276 | biostudies-literature
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