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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.
Not available
S-EPMC6700413 | biostudies-literature
UnknownDysuricemia.
Not available
S-EPMC10740884 | biostudies-literature
UnknownPorphyrin accumulation in humans with common dysfunctional variants of ABCG2, a porphyrin transporter: potential association with acquired photosensitivity.
Not available
S-EPMC8197704 | biostudies-literature
UnknownUtility of a rapid assay for prostaglandin E-major urinary metabolite as a biomarker in pediatric ulcerative colitis.
Not available
S-EPMC10279732 | biostudies-literature
UnknownABCG2 variant has opposing effects on onset ages of Parkinson's disease and gout.
Not available
S-EPMC4369280 | biostudies-literature
UnknownMultiple common and rare variants of ABCG2 cause gout.
Not available
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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