Associated Papers
Characterization of prevalent genetic variants in the Estonian Biobank body-mass index GWAS.
Abner E et al.
Nature Communications, 2025
Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.
Liu J et al.
Science Advances, 2025
The Interplay of UCP3 and PCSK1 Variants in Severe Obesity.
Verde L et al.
Current Obesity Reports, 2025
Differential sex-association between PCSK1 polymorphisms and obesity risk in Portuguese children.
Manco L et al.
American Journal of Human Biology : the Official Journal of the Human Biology Council, 2024
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
Mkaouar R et al.
Frontiers in Genetics, 2021
Reduced Stability and pH-Dependent Activity of a Common Obesity-Linked PCSK1 Polymorphism, N221D.
Jarvela TS et al.
Endocrinology, 2019
Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.
Ayers KL et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Identification of a potential functional single nucleotide polymorphism for fatness and growth traits in the 3'-untranslated region of the PCSK1 gene in chickens.
Zhang K et al.
Journal of Animal Science, 2017
Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism.
Löffler D et al.
Molecular Metabolism, 2017
PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders.
Stijnen P et al.
Endocrine Reviews, 2016
Endoplasmic reticulum-associated degradation of the mouse PC1/3-N222D hypomorph and human PCSK1 mutations contributes to obesity.
Stijnen P et al.
International Journal of Obesity (2005), 2016
PCSK1 Variants and Human Obesity.
Ramos-Molina B et al.
Progress in Molecular Biology and Translational Science, 2016
Revisiting PC1/3 Mutants: Dominant-Negative Effect of Endoplasmic Reticulum-Retained Mutants.
Blanco EH et al.
Endocrinology, 2015
Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals.
Nead KT et al.
Human Molecular Genetics, 2015
Biochemical and cell biological properties of the human prohormone convertase 1/3 Ser357Gly mutation: a PC1/3 hypermorph.
Blanco EH et al.
Endocrinology, 2014
Genetic variants in PCSK1 gene are associated with the risk of coronary artery disease in type 2 diabetes in a Chinese Han population: a case control study.
Wei X et al.
Plos One, 2014
Association of genetic variants of the incretin-related genes with quantitative traits and occurrence of type 2 diabetes in Japanese.
Enya M et al.
Molecular Genetics and Metabolism Reports, 2014
Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus.
Yourshaw M et al.
Journal of Pediatric Gastroenterology and Nutrition, 2013
Genetics of the first seven proprotein convertase enzymes in health and disease.
Turpeinen H et al.
Current Genomics, 2013
Functional consequences of a novel variant of PCSK1.
Pickett LA et al.
Plos One, 2013
Allelic clustering and ancestry-dependent frequencies of rs6232, rs6234, and rs6235 PCSK1 SNPs in a Northern Ontario population sample.
Sirois F et al.
Journal of Community Genetics, 2012
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
Manning AK et al.
Nature Genetics, 2012
Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity.
Creemers JW et al.
Diabetes, 2012
Effects of rs6234/rs6235 and rs6232/rs6234/rs6235 PCSK1 single-nucleotide polymorphism clusters on proprotein convertase 1/3 biosynthesis and activity.
Mbikay M et al.
Molecular Genetics and Metabolism, 2011
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
Strawbridge RJ et al.
Diabetes, 2011
Type 2 diabetes and obesity: genomics and the clinic.
Travers ME et al.
Human Genetics, 2011
The effect of PCSK1 variants on waist, waist-hip ratio and glucose metabolism is modified by sex and glucose tolerance status.
Gjesing AP et al.
Plos One, 2011
Association of PCSK1 rs6234 with obesity and related traits in a Chinese Han population.
Qi Q et al.
Plos One, 2010
Association of variants in the PCSK1 gene with obesity in the EPIC-Norfolk study.
Kilpeläinen TO et al.
Human Molecular Genetics, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Common nonsynonymous variants in PCSK1 confer risk of obesity.
Benzinou M et al.
Nature Genetics, 2008
Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension.
Kokubo Y et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2006