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Disease on EC 3.4.24.14 - procollagen N-endopeptidase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Alzheimer Disease
A disintegrin and metalloproteinase with thrombospondin motifs 2 cleaves and inactivates Reelin in the postnatal cerebral cortex and hippocampus, but not in the cerebellum.
Angina, Stable
Expression of ADAMTS-2, -3, -13, and -14 in culprit coronary lesions in patients with acute myocardial infarction or stable angina.
Brain Diseases
A disintegrin and metalloproteinase with thrombospondin motifs 2 cleaves and inactivates Reelin in the postnatal cerebral cortex and hippocampus, but not in the cerebellum.
Carcinogenesis
ADAMTS14 Gene Polymorphism and Environmental Risk in the Development of Oral Cancer.
Decreased Cytoplasmic Expression of ADAMTS14 Is Correlated with Reduced Survival Rates in Oral Squamous Cell Carcinoma Patients.
Effects of ADAMTS14 genetic polymorphism and cigarette smoking on the clinicopathologic development of hepatocellular carcinoma.
Carcinoma
Decreased Cytoplasmic Expression of ADAMTS14 Is Correlated with Reduced Survival Rates in Oral Squamous Cell Carcinoma Patients.
Overexpression of ADAMTS-2 in tumor cells and stroma is predictive of poor clinical prognosis in gastric cancer.
Carcinoma, Hepatocellular
Effects of ADAMTS14 genetic polymorphism and cigarette smoking on the clinicopathologic development of hepatocellular carcinoma.
The competing endogenous circular RNA ADAMTS14 suppressed hepatocellular carcinoma progression through regulating microRNA-572/regulator of calcineurin 1.
Cardiomegaly
Critical Role of ADAMTS2 (A Disintegrin and Metalloproteinase With Thrombospondin Motifs 2) in Cardiac Hypertrophy Induced by Pressure Overload.
Systems Genetics Approach Identifies Gene Pathways and Adamts2 as Drivers of Isoproterenol-Induced Cardiac Hypertrophy and Cardiomyopathy in Mice.
Cardiomyopathies
Systems Genetics Approach Identifies Gene Pathways and Adamts2 as Drivers of Isoproterenol-Induced Cardiac Hypertrophy and Cardiomyopathy in Mice.
Colonic Neoplasms
[Identification of protein markers for serum diagnosis of cancer based on microRNA expression profiling].
Congenital Abnormalities
ADAMTS proteins in human disorders.
Corneal Dystrophies, Hereditary
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
Craniofacial Fibrous Dysplasia
Gene expression profiling of craniofacial fibrous dysplasia reveals ADAMTS2 overexpression as a potential marker.
Dermatitis, Atopic
Spontaneous atopic dermatitis due to immune dysregulation in mice lacking Adamts2 and 14.
Ehlers-Danlos Syndrome
A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility.
Abnormal dentin structure in two novel gene mutations [COL1A1, Arg134Cys] and [ADAMTS2, Trp795-to-ter] causing rare type I collagen disorders.
ADAMTS: a novel family of extracellular matrix proteases.
Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3.
Connective tissue disorders in domestic animals.
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.
In vivo and in vitro noncovalent association of excised alpha 1 (I) amino-terminal propeptides with mutant pN alpha 2(I) collagen chains in native mutant collagen in a case of Ehlers-Danlos syndrome, type VII.
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene.
Polymorphic variation within the ADAMTS2, ADAMTS14, ADAMTS5, ADAM12 and TIMP2 genes and the risk of Achilles tendon pathology: A genetic association study.
Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis.
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).
Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase.
Exostoses
Evidence of genetic underexpression in chorionic villi samples of euploid fetuses with increased nuchal translucency at 10-11 weeks' gestation.
Genetic Diseases, Inborn
The ADAMTS(L) family and human genetic disorders.
Heart Defects, Congenital
A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability.
Infertility, Male
Transgenic mice with inactive alleles for procollagen N-proteinase (ADAMTS-2) develop fragile skin and male sterility.
Intellectual Disability
A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability.
Leukemia
ADAMTS2 gene dysregulation in T/myeloid mixed phenotype acute leukemia.
Liver Cirrhosis
ADAM metallopeptidase with thrombospondin type 1 motif 2 inactivation reduces the extent and stability of carbon tetrachloride-induced hepatic fibrosis in mice.
Lymphatic Metastasis
Decreased Cytoplasmic Expression of ADAMTS14 Is Correlated with Reduced Survival Rates in Oral Squamous Cell Carcinoma Patients.
Lymphedema
Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1.
Mesothelioma
Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study.
Mouth Neoplasms
ADAMTS14 Gene Polymorphism and Environmental Risk in the Development of Oral Cancer.
Multiple Sclerosis
Genetic association between polymorphisms in the ADAMTS14 gene and multiple sclerosis.
Myocardial Infarction
Expression of ADAMTS-2, -3, -13, and -14 in culprit coronary lesions in patients with acute myocardial infarction or stable angina.
Myopia
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
Novel Myopia Genes and Pathways Identified From Syndromic Forms of Myopia.
Neoplasm Metastasis
Combination of laser microdissection, 2D-DIGE and MALDI-TOF MS to identify protein biomarkers to predict colorectal cancer spread.
Decreased Cytoplasmic Expression of ADAMTS14 Is Correlated with Reduced Survival Rates in Oral Squamous Cell Carcinoma Patients.
Effect of insulin on the mRNA expression of procollagen N-proteinases in chondrosarcoma OUMS-27 cells.
Neoplasms
ADAMTS-2 functions as anti-angiogenic and anti-tumoral molecule independently of its catalytic activity.
ADAMTS14 Gene Polymorphism and Environmental Risk in the Development of Oral Cancer.
Combination of laser microdissection, 2D-DIGE and MALDI-TOF MS to identify protein biomarkers to predict colorectal cancer spread.
Decreased Cytoplasmic Expression of ADAMTS14 Is Correlated with Reduced Survival Rates in Oral Squamous Cell Carcinoma Patients.
Effect of insulin on the mRNA expression of procollagen N-proteinases in chondrosarcoma OUMS-27 cells.
Increased mRNA expression of ADAMs in renal cell carcinoma and their association with clinical outcome.
Increasing the number of thyroid lesions classes in microarray analysis improves the relevance of diagnostic markers.
Overall survival in EGFR mutated non-small-cell lung cancer patients treated with afatinib after EGFR TKI and resistant mechanisms upon disease progression.
Overexpression of ADAMTS-2 in tumor cells and stroma is predictive of poor clinical prognosis in gastric cancer.
The membrane proteases adams and hepsin are differentially expressed in renal cell carcinoma. Are they potential tumor markers?
Obstetric Labor, Premature
Comparative analysis of gene expression in maternal peripheral blood and monocytes during spontaneous preterm labor.
The preterm labor associated ADAMTS2 gene is induced by glucocorticoids.
Osteoarthritis
Association of a nsSNP in ADAMTS14 to some osteoarthritis phenotypes.
Genetic association analysis of the IGFBP7, ADAMTS3, and IL8 genes as the potential osteoarthritis susceptibility that maps to chromosome 4q.
[Association between ADAMTS14 gene polymorphism and the temporomandibular joint osteoarthritis in Chinese Han females].
Osteoarthritis, Knee
ADAMTS14 gene polymorphism associated with knee osteoarthritis in Thai women.
Lack of association between MMP13 (rs3819089), ADAM12 (rs3740199-rs1871054) and ADAMTS14 (rs4747096) genotypes and advanced-stage knee osteoarthritis.
Osteogenesis Imperfecta
A heterozygous defect for structurally altered pro-alpha 2 chain of type I procollagen in a mild variant of osteogenesis imperfecta. The altered structure decreases the thermal stability of procollagen and makes it resistant to procollagen N-proteinase.
Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N-proteinase.
Osteosarcoma
IL-6 upregulates a disintegrin and metalloproteinase with thrombospondin motifs 2 (ADAMTS-2) in human osteosarcoma cells mediated by JNK pathway.
SP1-mediated downregulation of ADAMTS3 gene expression in osteosarcoma models.
Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase.
Purpura, Thrombotic Thrombocytopenic
The ADAMTS(L) family and human genetic disorders.
Sleep Apnea Syndromes
Association between the ADAMTS proteinases and obstructive sleep apnea.
Squamous Cell Carcinoma of Head and Neck
Decreased Cytoplasmic Expression of ADAMTS14 Is Correlated with Reduced Survival Rates in Oral Squamous Cell Carcinoma Patients.
Stomach Neoplasms
Overexpression of ADAMTS-2 in tumor cells and stroma is predictive of poor clinical prognosis in gastric cancer.
Stroke
ADAMTS genes and the risk of cerebral aneurysm.
ADAMTS12, a new candidate gene for pediatric stroke.
Urinary Incontinence
The role of ADAMTS-2, collagen type-1, TIMP-3 and papilin levels of uterosacral and cardinal ligaments in the etiopathogenesis of pelvic organ prolapse among women without stress urinary incontinence.