Associated Papers
Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distribution.
Baya NA et al.
American Journal of Human Genetics, 2025
The Interplay of UCP3 and PCSK1 Variants in Severe Obesity.
Verde L et al.
Current Obesity Reports, 2025
Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.
Shah BP et al.
Expert Review of Endocrinology & Metabolism, 2023
Prohormone convertase 1/3 deficiency causes obesity due to impaired proinsulin processing.
Meier DT et al.
Nature Communications, 2022
The G209R mutant mouse as a model for human PCSK1 polyendocrinopathy.
Shakya M et al.
Endocrinology, 2022
Loss-of-function mutation in Pcsk1 increases serum APOA1 level and LCAT activity in mice.
Khan AA et al.
Laboratory Animal Research, 2022
Coronary Heart Disease in Type 2 Diabetes Mellitus: Genetic Factors and Their Mechanisms, Gene-Gene, and Gene-Environment Interactions in the Asian Populations.
Zarkasi KA et al.
International Journal of Environmental Research and Public Health, 2022
A novel mutation in the mouse Pcsk1 gene showing obesity and diabetes.
Muhsin NIA et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2020
Reduced Stability and pH-Dependent Activity of a Common Obesity-Linked PCSK1 Polymorphism, N221D.
Jarvela TS et al.
Endocrinology, 2019
Glucose-regulated protein 78 binds to and regulates the melanocortin-4 receptor.
Yoon YR et al.
Experimental & Molecular Medicine, 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
PC1/3 Deficiency Impacts Pro-opiomelanocortin Processing in Human Embryonic Stem Cell-Derived Hypothalamic Neurons.
Wang L et al.
Stem Cell Reports, 2017
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome.
Burnett LC et al.
The Journal of Clinical Investigation, 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
Common variants in PCSK1 influence blood pressure and body mass index.
Gu Q et al.
Journal of Human Hypertension, 2015
The association of common variants in PCSK1 with obesity: a HuGE review and meta-analysis.
Stijnen P et al.
American Journal of Epidemiology, 2014
Biochemical and cell biological properties of the human prohormone convertase 1/3 Ser357Gly mutation: a PC1/3 hypermorph.
Blanco EH et al.
Endocrinology, 2014
Defective transport of the obesity mutant PC1/3 N222D contributes to loss of function.
Prabhu Y et al.
Endocrinology, 2014
Genetics of the first seven proprotein convertase enzymes in health and disease.
Turpeinen H et al.
Current Genomics, 2013
Haplotype combination of the caprine PC1 gene sequence variants and association with growth traits in Chinese Haimen breed.
Sun J et al.
Journal of Genetics, 2012
Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity.
Creemers JW et al.
Diabetes, 2012
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
Novel single nucleotide polymorphisms of the caprine PC1 gene and association with growth traits.
Sun J et al.
Biochemical Genetics, 2010
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.
Bianco SD et al.
Nature Reviews. Endocrinology, 2009
Association of variants in the PCSK1 gene with obesity in the EPIC-Norfolk study.
Kilpeläinen TO et al.
Human Molecular Genetics, 2009
Common nonsynonymous variants in PCSK1 confer risk of obesity.
Benzinou M et al.
Nature Genetics, 2008
Diabetes models by screen for hyperglycemia in phenotype-driven ENU mouse mutagenesis projects.
Aigner B et al.
American Journal of Physiology. Endocrinology and Metabolism, 2008
Identification of positional candidate genes for body weight and adiposity in subcongenic mice.
Chiu S et al.
Physiological Genomics, 2007
Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.
Farooqi IS et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
A targeted deletion/insertion in the mouse Pcsk1 locus is associated with homozygous embryo preimplantation lethality, mutant allele preferential transmission and heterozygous female susceptibility to dietary fat.
Mbikay M et al.
Developmental Biology, 2007
Obesity, hyperphagia and increased metabolic efficiency in Pc1 mutant mice.
Lloyd DJ et al.
Human Molecular Genetics, 2006
Association of PCSK1 gene polymorphisms with abdominal fat content in broilers.
Zhou J et al.
Animal Science Journal = Nihon Chikusan Gakkaiho, 0