Associated Papers
A patient with ROHHAD syndrome and leptin-melanocortin pathway gene variations. Correlation or just a coincidence? Case report.
Kostopoulou E et al.
Hormones (athens, Greece), 2026
Spontaneous Improvement of Hypogonadotropic Hypogonadism in a Patient with PCSK1 and HS6ST1 Mutations: A Case Report.
Asgeirsson A et al.
Life (basel, Switzerland), 2025
Rare gene variants and weight loss at 10 years after sleeve gastrectomy and gastric bypass - a randomized clinical trial.
Loid P et al.
Surgery for Obesity and Related Diseases : Official Journal of the American Society for Bariatric Surgery, 2025
The Interplay of UCP3 and PCSK1 Variants in Severe Obesity.
Verde L et al.
Current Obesity Reports, 2025
Towards a genetic obesity risk score in a single-center study of children and adolescents with obesity.
Partenope C et al.
Scientific Reports, 2025
Cardiometabolic Risk Markers in Children With Obesity and Variants in MC4R Pathway-related Genes.
Salama M et al.
Journal of the Endocrine Society, 2024
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
The Tip of the Iceberg: Genotype of Puerto Rican Pediatric Obesity.
Melendez-Montañez JM et al.
Genes, 2024
Clinically Meaningful Outcomes after 1 Year of Treatment with Setmelanotide in an Adult Patient with a Variant in SH2B1.
Politei JM et al.
Obesity Facts, 2024
[Monogenic obesity: pathophysiology, diagnosis and treatment].
Andrés ME et al.
Medicina, 2024
The N221D variant in PCSK1 is highly prevalent in childhood obesity and can influence the metabolic profile.
Guijo B et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2023
Obesity Characteristics Are Poor Predictors of Genetic Mutations Associated with Obesity.
Al-Humadi AW et al.
Journal of Clinical Medicine, 2023
Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.
Xie Y et al.
Children (basel, Switzerland), 2022
The G209R mutant mouse as a model for human PCSK1 polyendocrinopathy.
Shakya M et al.
Endocrinology, 2022
Implication of Heterozygous Variants in Genes of the Leptin-Melanocortin Pathway in Severe Obesity.
Courbage S et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Reduced Stability and pH-Dependent Activity of a Common Obesity-Linked PCSK1 Polymorphism, N221D.
Jarvela TS et al.
Endocrinology, 2019
Benefits and limitations of genome-wide association studies.
Tam V et al.
Nature Reviews. Genetics, 2019
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.
John SE et al.
Scientific Reports, 2018
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 analysis of PCSK2 coding variants: A founder effect in the Old Order Amish population.
Winters A et al.
Diabetes Research and Clinical Practice, 2017
Exploring single nucleotide polymorphisms previously related to obesity and metabolic traits in pediatric-onset type 2 diabetes.
Miranda-Lora AL et al.
Acta Diabetologica, 2017
Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism.
Löffler D et al.
Molecular Metabolism, 2017
The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.
Hoffmann MJ et al.
Bladder Cancer (amsterdam, Netherlands), 2016
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
Association between rs155971 in the PCSK1 gene and the lipid profile of obese Thai children: a family-based study.
Kulanuwat S et al.
Genetics and Molecular Research : Gmr, 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
Common variants in PCSK1 influence blood pressure and body mass index.
Gu Q et al.
Journal of Human Hypertension, 2015
Association of adenovirus 36 infection with obesity-related gene variants in adolescents.
Dušátková L et al.
Physiological Research, 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
Defective transport of the obesity mutant PC1/3 N222D contributes to loss of function.
Prabhu Y et al.
Endocrinology, 2014
GWAS-identified common variants for obesity are not associated with the risk of developing colorectal cancer.
Sainz J et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2014
[Genetic background in common forms of obesity - from studies on identical twins to candidate genes of obesity].
Bendlová B et al.
Casopis Lekaru Ceskych, 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
Proprotein convertases in high-density lipoprotein metabolism.
Choi S et al.
Biomarker Research, 2013
The genetics of human obesity.
Xia Q et al.
Annals of the New York Academy of Sciences, 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
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
[FTO gene and his role in genetic determination of obesity].
Dušátková L et al.
Vnitrni Lekarstvi, 2012