|
Proprotein Convertase 1 3 Deficiency
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
A New Case of PCSK1 Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature Review.
|
30383237 |
2019 |
|
Proprotein Convertase 1 3 Deficiency
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.
|
17595246 |
2007 |
|
Proprotein Convertase 1 3 Deficiency
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.
|
17595246 |
2007 |
|
Proprotein Convertase 1 3 Deficiency
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
|
14617756 |
2003 |
|
Proprotein Convertase 1 3 Deficiency
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.
|
9207799 |
1997 |
|
Proprotein Convertase 1 3 Deficiency
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.
|
9207799 |
1997 |
|
Proprotein Convertase 1 3 Deficiency
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Proprotein Convertase 1 3 Deficiency
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Proprotein Convertase 1 3 Deficiency
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To further define the MC4R pathway and its potential impact on obesity, we tested associations between body mass index (BMI) and LoF mutation burden in the POMC, PCSK1, and LEPR genes in various populations.
|
29726959 |
2018 |
|
Obesity
|
0.700 |
Biomarker
|
disease |
BEFREE |
We conclude that the obesity accompanying PCSK1 deficiency may not be primarily due to αMSH deficiency.
|
28132887 |
2017 |
|
Obesity
|
0.700 |
Biomarker
|
disease |
BEFREE |
Proprotein convertase 1/3 (PC1/3) deficiency is a very rare disease characterized by severe intractable diarrhea in the first years of life, followed by obesity and several hormonal deficiencies later.
|
28588004 |
2017 |
|
Obesity
|
0.700 |
Biomarker
|
disease |
BEFREE |
A better understanding of these molecular and cellular pathologies may illuminate possible treatments for the complex endocrinopathy of PCSK1 deficiency, including obesity.
|
27288825 |
2016 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Congenital inactivation of PCSK1 leads to obesity in human but not in mice.
|
26786350 |
2016 |
|
Obesity
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
These adipocytes express neuroendocrine and secreted factors, including the pro-protein convertase PCSK1, which is strongly associated with human obesity.
|
26808348 |
2016 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Humans who are homozygous or compound heterozygous for loss-of-function mutations in PCSK1 exhibit a variable and pleiotropic syndrome consisting of some or all of the following: obesity, malabsorptive diarrhea, hypogonadotropic hypogonadism, altered thyroid and adrenal function, and impaired regulation of plasma glucose levels in association with elevated circulating proinsulin-to-insulin ratio.
|
27187081 |
2016 |
|
Obesity
|
0.700 |
Biomarker
|
disease |
BEFREE |
Furthermore, we replicated the association of PCSK1 with BMI and obesity.
|
25031086 |
2015 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Therefore, these common variants in PCSK1 and POMC were not the major cause of obesity in the Thai subjects sampled.
|
26345846 |
2015 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, PCSK1 rs6235 risk allele was related to Adv36 seropositivity (chi(2)=6.85, p=0.033) in overweight/obese subgroup.
|
26680480 |
2015 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In summary, 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.
|
25784503 |
2015 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
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.
|
24890885 |
2015 |
|
Obesity
|
0.700 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to investigate the messenger RNA (mRNA) gene expression of proglucagon, glucose-dependent insulinotropic peptide (GIP), prohormone convertase 1/3 (PC1/3), and dipeptidyl peptidase-IV (DPP-IV) in jejunum cells of the morbidly obese (OB) non type 2 diabetes mellitus (NDM2) and type 2 diabetes mellitus (T2DM), to determine the molecular basis of incretin secretion after bariatric surgery.
|
24831459 |
2014 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
No difference was found in the association with different obesity grades, and no association of PCSK1 rs6234-rs6235 with obesity was identified in Asian populations.
|
25355447 |
2014 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A total of 1276 bariatric patients were genotyped for the INSIG-2, FTO, MC4R, and PCSK-1 obesity single nucleotide polymorphisms.
|
22695173 |
2014 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PCSK1 gene encoding prohormone convertase 1/3 (PC1/3) are strongly associated with obesity in humans.
|
24828610 |
2014 |