The N221D variant in PCSK1 is highly prevalent in childhood obesity and can influence the metabolic profile

Contribution of heterozygous PCSK1 variants to obesity and implications for precision medicine: a case-control study

(2023) Lise Folon et al.   Lancet Diabetes & Endocrinology

Prohormone convertase 1/3 deficiency causes obesity due to impaired proinsulin processing

(2022) Daniel T. Meier et al.   Nature Communications

Heterozygous rare genetic variants in non-syndromic early-onset obesity

(2019) Clara Serra-Juhé et al.   INTERNATIONAL JOURNAL OF OBESITY

Sex, puberty, and ethnicity have a strong influence on growth and metabolic comorbidities in children and adolescents with obesity: Report on 1300 patients (the Madrid Cohort)

(2019) Gabriel Á. Martos‐Moreno et al.   Pediatric Obesity

Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism

(2017) Dennis Löffler et al.   Molecular Metabolism

PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders

(2016) Pieter Stijnen et al.   ENDOCRINE REVIEWS

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

(2015) K. T. Nead et al.   HUMAN MOLECULAR GENETICS

The Association of Common Variants in PCSK1 With Obesity: A HuGE Review and Meta-Analysis

(2014) Pieter Stijnen et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Defective Transport of the Obesity Mutant PC1/3 N222D Contributes to Loss of Function

(2014) Yogikala Prabhu et al.   ENDOCRINOLOGY

A Novel Familial Mutation in the PCSK1 Gene That Alters the Oxyanion Hole Residue of Proprotein Convertase 1/3 and Impairs Its Enzymatic Activity

(2014) Michael Wilschanski et al.   PLoS One

Congenital Proprotein Convertase 1/3 Deficiency Causes Malabsorptive Diarrhea and Other Endocrinopathies in a Pediatric Cohort

(2013) Martín G. Martín et al.   GASTROENTEROLOGY

From Diarrhea to Obesity in Prohormone Convertase 1/3 Deficiency

(2013) Robert H.J. Bandsma et al.   JOURNAL OF CLINICAL GASTROENTEROLOGY

Contribution of Common PCSK1 Genetic Variants to Obesity in 8,359 Subjects from Multi-Ethnic American Population

(2013) Hélène Choquet et al.   PLoS One

PCSK1 rs6232 Is Associated with Childhood and Adult Class III Obesity in the Mexican Population

(2012) Marisela Villalobos-Comparán et al.   PLoS One

Heterozygous Mutations Causing Partial Prohormone Convertase 1 Deficiency Contribute to Human Obesity

(2011) J. W. M. Creemers et al.   DIABETES

Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes

(2011) R. J. Strawbridge et al.   DIABETES

National, regional, and global trends in body-mass index since 1980: systematic analysis of health examination surveys and epidemiological studies with 960 country-years and 9·1 million participants

(2011) Mariel M Finucane et al.   LANCET

Common Variants in FTO, MC4R, TMEM18, PRL, AIF1, and PCSK1 Show Evidence of Association With Adult Obesity in the Greek Population

(2011) Konstantinos Rouskas et al.   Obesity

Association of obesity risk SNPs in PCSK1with insulin sensitivity and proinsulin conversion

(2010) Martin Heni et al.   BMC Medical Genetics

Association of PCSK1 rs6234 with Obesity and Related Traits in a Chinese Han Population

(2010) Qibin Qi et al.   PLoS One

Insulin Resistance Markers in Children

(2009) Francisca Eyzaguirre et al.   Hormone Research in Paediatrics

Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations

(2009) David Meyre et al.   NATURE GENETICS

Serum brain-derived neurotrophic factor in patients with type 2 diabetes mellitus: Relationship to glucose metabolism and biomarkers of insulin resistance

(2008) Aya Fujinami et al.   CLINICAL BIOCHEMISTRY

Common nonsynonymous variants in PCSK1 confer risk of obesity

(2008) Michael Benzinou et al.   NATURE GENETICS

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

(2008) Cristen J Willer et al.   NATURE GENETICS