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we found eight known variants and two novel heterozygous variants (c.1095 + 1G > A and p.S24C), and identified and functionally characterized two rare novel PCSK1 variants of which c.1095 + 1G > A caused complete loss of protein function. In addition to confirming rs6232 and rs6234 in PCSK1 as polygenic risk variants for childhood obesity, we describe an association of rs725522 with insulin metabolism.
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investigation of the pathogenesis of obesity in the PC1/3-N222D mouse model and whether this molecular mechanism also applies to common and rare human PCSK1 mutations
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PCSK1 deficiency plays a role in human endocrinopathies, obesity, gastrointestinal disorders.
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findings suggest that the major neuroendocrine features of Prader-Willi syndrome are due to PC1 deficiency
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PCSK1 mutations are associated with Obesity.
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PCSK1 expression is significantly upregulated in human masticatory mucosa during wound healing
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these common variants in PCSK1 and POMC were not the major cause of obesity in the Thai subjects sampled. However, variants in PCSK1 did affect cholesterol level, LDL-C level, and waist circumference.
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conclude that the N309K enzyme is able to cleave its own propeptide but is catalytically inert against in trans substrates, and that this variant accounts for the enteric and systemic endocrinopathies seen in the consanguineous kindred studied
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we demonstrate evidence that common gene variation in PCSK1 contributes to BMI variation and susceptibility to common obesity in the largest known meta-analysis published to date in genetic epidemiology.
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Data show that prohormone convertase 1/3 (PC1/3) endoplasmic reticulum-retained mutants induce endoplasmic reticulum stress.
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Mechanism of Fine-tuning pH Sensors in Proprotein Convertases: IDENTIFICATION OF A pH-SENSING HISTIDINE PAIR IN THE PROPEPTIDE OF PROPROTEIN CONVERTASE 1/3.
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rs6232 associated with body mass index
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We showed for the first time that a nonsense mutation in PCSK1 was likely to cause dominantly inherited human obesity, due to the inhibiting properties of the propeptide fragment encoded by the null allele
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Epistases between single nucleotide polymorphisms within proprotein convertase subtilisin/kexin type 1(PCSK1) and dopamine beta-hydroxylase(DBH) genes are significantly associated with susceptibility or resistance to premature ovarian failure
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FTO-rs9939609, TMEM18-rs6548238 and PCSK1-rs6234 polymorphisms are significantly associated with body mass index in a southern Chinese population.
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SNPs rs6232, rs6234, and rs6235 associated with obesity in Caucasians [review]
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Common genetic variants in PCSK1 are associated with coronary artery disease in Chinese patients with type 2 diabetes.
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PC1/3(S357G) exhibited a lower calcium dependence; a higher pH optimum.
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PCSK1 is overexpressed in fibrolamellar hepatocellular carcinoma.
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Thais carrying SNPs rs6234-5 are at increased risk of obesity, and the risk of severe obesity increases when carrying both rs6234-5 and rs3811951, but not with rs271939. Patients with genetic variations at rs3811951 are at risk of having low HDL-C levels.