Disease on EC 3.4.21.93 - Proprotein convertase 1
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Adrenal Insufficiency
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
Carcinogenesis
Targeted production of proprotein convertase PC1 enhances mammary development and tumorigenesis in transgenic mice.
Carcinoid Tumor
Expression in human lung tumor cells of the proprotein processing enzyme PC1/PC3. Cloning and primary sequence of a 5 kb cDNA.
Coronary Artery Disease
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.
Cushing Syndrome
Treatment-related neuroendocrine prostate cancer resulting in Cushing's syndrome.
Diabetes Insipidus
Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus.
Diabetes Insipidus
Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.
Diabetes Insipidus, Neurogenic
Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.
Diabetes Mellitus
Association of type 2 diabetes susceptibility genes (TCF7L2, SLC30A8, PCSK1 and PCSK2) and proinsulin conversion in a Chinese population.
Diabetes Mellitus, Type 2
Association of genetic variants of the incretin-related genes with quantitative traits and occurrence of type 2 diabetes in Japanese.
Diabetes Mellitus, Type 2
Association of obesity susceptibility gene variants with metabolic syndrome and related traits in 1,443 czech adolescents.
Diabetes Mellitus, Type 2
Association of type 2 diabetes susceptibility genes (TCF7L2, SLC30A8, PCSK1 and PCSK2) and proinsulin conversion in a Chinese population.
Diabetes Mellitus, Type 2
Effects of PCSK1 genetic variants on obesity among Thai children and their family members: in relation to health risk, and biochemical and anthropometric parameters.
Diabetes Mellitus, Type 2
Enteroendocrine K and L cells in healthy and type 2 diabetic individuals.
Diabetes Mellitus, Type 2
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.
Diabetes Mellitus, Type 2
Human prohormone convertase 3 gene: exon-intron organization and molecular scanning for mutations in Japanese subjects with NIDDM.
Diabetes Mellitus, Type 2
Long-term elevation of free fatty acids leads to delayed processing of proinsulin and prohormone convertases 2 and 3 in the pancreatic beta-cell line MIN6.
Diabetes Mellitus, Type 2
The Ominous Trio of PCSK1, CHD7, and PAX4: Normosmic Hypogonadotropic Hypogonadism with Maturity-Onset Diabetes in a Young Man.
Essential Hypertension
The obesity-related polymorphism PCSK1 rs6235 is associated with essential hypertension in the Han Chinese population.
Gastrointestinal Diseases
PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders.
Genetic Diseases, Inborn
Hyperphagia and Obesity in Prader?Willi Syndrome: PCSK1 Deficiency and Beyond?
Glucose Intolerance
A common variant upstream of the PAX6 gene influences islet function in man.
Glucose Intolerance
Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism.
Hyperglycemia
Cellular responses of novel human pancreatic ?-cell line, 1.1B4 to hyperglycemia.
Hypertension
Common PCSK1 Haplotypes Are Associated With Obesity in the Chinese Population.
Hypertension
The obesity-related polymorphism PCSK1 rs6235 is associated with essential hypertension in the Han Chinese population.
Hypoglycemia
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
Hypogonadism
PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders.
Hypogonadism
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
Hypogonadism
The Ominous Trio of PCSK1, CHD7, and PAX4: Normosmic Hypogonadotropic Hypogonadism with Maturity-Onset Diabetes in a Young Man.
Infections
Association of adenovirus 36 infection with obesity-related gene variants in adolescents.
Insulin Resistance
Association of genetic variants of the incretin-related genes with quantitative traits and occurrence of type 2 diabetes in Japanese.
Insulin Resistance
Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion.
Insulin Resistance
Common PCSK1 Haplotypes Are Associated With Obesity in the Chinese Population.
Insulin Resistance
Several obesity- and nutrient-related gene polymorphisms but not FTO and UCP variants modulate postabsorptive resting energy expenditure and fat-induced thermogenesis in obese individuals: the NUGENOB Study.
kexin deficiency
A New Case of PCSK1 Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature Review.
kexin deficiency
A novel mutation of PCSK1 responsible for PC1/3 deficiency in two siblings.
kexin deficiency
Case Report: Complete Maternal Uniparental Isodisomy of Chromosome 5 (iUPD(5)mat) With PCSK1 Nonsense Variant in an Infant With Recurrent Diarrhea.
kexin deficiency
Early Clinical Diagnosis of PC1/3 Deficiency in a Patient With a Novel Homozygous PCSK1 Splice-Site Mutation.
Malnutrition
Perinatal food deprivation induces marked alterations of the hypothalamo-pituitary-adrenal axis in 8-month-old male rats both under basal conditions and after a dehydration period.
Metabolic Syndrome
Association of obesity susceptibility gene variants with metabolic syndrome and related traits in 1,443 czech adolescents.
Nasal Polyps
Overexpressed PC1/3 induces an epithelial-mesenchymal transition in airway epithelium.
Neoplasms
Alterations in gene expression of proprotein convertases in human lung cancer have a limited number of scenarios.
Neoplasms
Expression in human lung tumor cells of the proprotein processing enzyme PC1/PC3. Cloning and primary sequence of a 5 kb cDNA.
Neoplasms
Genetic variation may modify ovarian reserve in female childhood cancer survivors.
Neoplasms
PCSK1 Overexpression in Rectal Cancer Correlates with Poor Response to Preoperative Chemoradiotherapy and Prognosis.
Neoplasms
Primary hepatic carcinoid and neuroendocrine carcinoma: clinicopathological and immunohistochemical study of five cases.
Neoplasms
Rat Chromosome 2: assignment of the genes encoding cyclin B1, interleukin 6 signal transducer, and proprotein convertase 1 to the Mcs1-containing region and identification of new microsatellite markers.
Neoplasms
Treatment-related neuroendocrine prostate cancer resulting in Cushing's syndrome.
Obesity
A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity.
Obesity
Allelic clustering and ancestry-dependent frequencies of rs6232, rs6234, and rs6235 PCSK1 SNPs in a Northern Ontario population sample.
Obesity
Association between rs155971 in the PCSK1 gene and the lipid profile of obese Thai children: a family-based study.
Obesity
Association of adenovirus 36 infection with obesity-related gene variants in adolescents.
Obesity
Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion.
Obesity
Association of obesity susceptibility gene variants with metabolic syndrome and related traits in 1,443 czech adolescents.
Obesity
Association of PCSK1 rs6234 with obesity and related traits in a Chinese Han population.
Obesity
Association of the rs6235 variant in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene with obesity and related traits in a Taiwanese population.
Obesity
Common Variants in FTO, MC4R, TMEM18, PRL, AIF1, and PCSK1 Show Evidence of Association With Adult Obesity in the Greek Population.
Obesity
Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort.
Obesity
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.
Obesity
Contribution of Common PCSK1 Genetic Variants to Obesity in 8,359 Subjects from Multi-Ethnic American Population.
Obesity
Defective transport of the obesity mutant PC1/3 N222D contributes to loss of function.
Obesity
Early Clinical Diagnosis of PC1/3 Deficiency in a Patient With a Novel Homozygous PCSK1 Splice-Site Mutation.
Obesity
Effects of PCSK1 genetic variants on obesity among Thai children and their family members: in relation to health risk, and biochemical and anthropometric parameters.
Obesity
Endoplasmic reticulum-associated degradation of the mouse PC1/3-N222D hypomorph and human PCSK1 mutations contributes to obesity.
Obesity
Environment and Gene Association With Obesity and Their Impact on Neurodegenerative and Neurodevelopmental Diseases.
Obesity
Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism.
Obesity
Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity.
Obesity
Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity.
Obesity
Human 'brite/beige' adipocytes develop from capillary networks, and their implantation improves metabolic homeostasis in mice.
Obesity
Individual Genetic Variations Related to Satiety and Appetite Control Increase Risk of Obesity in Preschool-Age Children in the STRONG Kids Program.
Obesity
Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.
Obesity
Next-generation sequencing of the monogenic obesity genes LEP, LEPR, MC4R, PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls.
Obesity
Novel Homozygous Inactivating Mutation in the PCSK1 Gene in an Infant with Congenital Malabsorptive Diarrhea.
Obesity
PC1/3 Deficiency Impacts Pro-opiomelanocortin Processing in Human Embryonic Stem Cell-Derived Hypothalamic Neurons.
Obesity
PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders.
Obesity
PCSK1 rs6232 is associated with childhood and adult class III obesity in the Mexican population.
Obesity
Polymorphisms in an obesity-related gene (PCSK1) are associated with fat deposition and production traits in Italian heavy pigs.
Obesity
Re: "The Association of Common Variants in PCSK1 With Obesity: A HuGE Review and Meta-Analysis".
Obesity
Revisiting PC1/3 Mutants: Dominant-Negative Effect of Endoplasmic Reticulum-Retained Mutants.
Obesity
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
Obesity
The association of common variants in PCSK1 with obesity: a HuGE review and meta-analysis.
Obesity
The obesity-related polymorphism PCSK1 rs6235 is associated with essential hypertension in the Han Chinese population.
Obesity
[Heritability of obesity in children aged 30-36 months and an analysis of single nucleotide polymorphisms at four loci in Xi'an, China].
Obesity, Morbid
Association between rs155971 in the PCSK1 gene and the lipid profile of obese Thai children: a family-based study.
Obesity, Morbid
Implication of heterozygous variants in genes of the leptin-melanocortin pathway in severe obesity.
Obesity, Morbid
Next-generation sequencing of the monogenic obesity genes LEP, LEPR, MC4R, PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls.
Obesity, Morbid
Novel Mutations in Obesity-Related Genes in Turkish Children with Non-Syndromic Early Onset Severe Obesity: A Multicentre Study
Obesity, Morbid
PC1/3 Deficiency Impacts Pro-opiomelanocortin Processing in Human Embryonic Stem Cell-Derived Hypothalamic Neurons.
Obesity, Morbid
Revisiting PC1/3 Mutants: Dominant-Negative Effect of Endoplasmic Reticulum-Retained Mutants.
Overweight
A common variant near BDNF is associated with dietary calcium intake in adolescents.
Overweight
Association of PCSK1 rs6234 with obesity and related traits in a Chinese Han population.
Overweight
Association of the rs6235 variant in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene with obesity and related traits in a Taiwanese population.
Overweight
Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic Review.
Pediatric Obesity
Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion.
Pediatric Obesity
Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism.
Pediatric Obesity
The association of common variants in PCSK1 with obesity: a HuGE review and meta-analysis.
Primary Ovarian Insufficiency
Epistasis between polymorphisms in PCSK1 and DBH is associated with premature ovarian failure.
proprotein convertase 1 deficiency
Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity.
proprotein convertase 1 deficiency
Hyperphagia and Obesity in Prader?Willi Syndrome: PCSK1 Deficiency and Beyond?
proprotein convertase 1 deficiency
Mice lacking PC1/3 expression in POMC-expressing cells do not develop obesity.
proprotein convertase 1 deficiency
Novel Homozygous Inactivating Mutation in the PCSK1 Gene in an Infant with Congenital Malabsorptive Diarrhea.
proprotein convertase 1 deficiency
PC1/3 Deficiency Impacts Pro-opiomelanocortin Processing in Human Embryonic Stem Cell-Derived Hypothalamic Neurons.
proprotein convertase 1 deficiency
Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.
proprotein convertase 1 deficiency
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
Rectal Neoplasms
PCSK1 Overexpression in Rectal Cancer Correlates with Poor Response to Preoperative Chemoradiotherapy and Prognosis.
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