Search Results - "Creemers, John W. M"
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PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders
Published in Endocrine reviews (01-08-2016)“…Prohormone convertase 1/3, encoded by the PCSK1 gene, is a serine endoprotease that is involved in the processing of a variety of proneuropeptides and…”
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Metabolic and Behavioural Phenotypes in Nestin-Cre Mice Are Caused by Hypothalamic Expression of Human Growth Hormone
Published in PloS one (14-08-2015)“…The Nestin-Cre driver mouse line has mild hypopituitarism, reduced body weight, a metabolic phenotype and reduced anxiety. Although several causes have been…”
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The proprotein convertase furin in cancer: more than an oncogene
Published in Oncogene (25-02-2022)“…Furin is the first discovered proprotein convertase member and is present in almost all mammalian cells. Therefore, by regulating the maturation of a wide…”
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Heterozygous Mutations Causing Partial Prohormone Convertase 1 Deficiency Contribute to Human Obesity
Published in Diabetes (New York, N.Y.) (01-02-2012)“…Null mutations in the PCSK1 gene, encoding the proprotein convertase 1/3 (PC1/3), cause recessive monogenic early onset obesity. Frequent coding variants that…”
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The dwarf phenotype in GH240B mice, haploinsufficient for the autism candidate gene Neurobeachin, is caused by ectopic expression of recombinant human growth hormone
Published in PloS one (15-10-2014)“…Two knockout mouse models for the autism candidate gene Neurobeachin (Nbea) have been generated independently. Although both models have similar phenotypes,…”
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Proteolytic maturation and activation of autotaxin (NPP2), a secreted metastasis-enhancing lysophospholipase D
Published in Journal of cell science (15-07-2005)“…Autotaxin (NPP2) is an extracellular protein that is upregulated in various malignancies, including breast and lung cancer. It potently stimulates cell…”
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Curbing activation: proprotein convertases in homeostasis and pathology
Published in The FASEB journal (01-07-2003)“…ABSTRACT The proprotein convertases (PCs) are a seven‐member family of endoproteases that activate proproteins by cleavage at basic motifs. Expression patterns…”
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SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles
Published in Human molecular genetics (01-04-2010)“…Autism is a neurodevelopmental disorder characterized by impaired social reciprocity, impaired communication and stereotypical behaviors. Despite strong…”
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The proprotein convertase furin is a pro-oncogenic driver in KRAS and BRAF driven colorectal cancer
Published in Oncogene (23-04-2020)“…Mutations in KRAS and/or BRAF that activate the ERK kinase are frequently found in colorectal cancer (CRC) and drive resistance to targeted therapies…”
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Differential Effects of Furin Deficiency on Insulin Receptor Processing and Glucose Control in Liver and Pancreatic β Cells of Mice
Published in International journal of molecular sciences (14-06-2021)“…The insulin receptor (IR) is critically involved in maintaining glucose homeostasis. It undergoes proteolytic cleavage by proprotein convertases, which is an…”
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Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism
Published in European journal of human genetics : EJHG (01-04-2007)“…Autism is a genetic neurodevelopmental disorder of unknown cause and pathogenesis. The identification of genes involved in autism is expected to increase our…”
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Loss of Proprotein Convertase Furin in Mammary Gland Impairs proIGF1R and proIR Processing and Suppresses Tumorigenesis in Triple Negative Breast Cancer
Published in Cancers (20-09-2020)“…In triple negative breast cancer (TNBC) cell lines, the proprotein convertase Furin cleaves and then activates several protein precursors involved in…”
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PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome
Published in Neurology (08-04-2014)“…OBJECTIVE:To investigate the genetic and physiologic basis of the neuromuscular symptoms of hypotonia-cystinuria syndrome (HCS) and isolated PREPL deficiency,…”
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Hyperphagia and Early-Onset Obesity due to a Novel Homozygous Missense Mutation in Prohormone Convertase 1/3
Published in The journal of clinical endocrinology and metabolism (01-09-2007)“…Context: Congenital deficiency of the neuroendocrine-specific enzyme prohormone convertase (PC) 1/3 leads to a syndrome characterized by obesity, small…”
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The Association of Common Variants in PCSK1 With Obesity: A HuGE Review and Meta-Analysis
Published in American journal of epidemiology (01-12-2014)“…Congenital deficiency of the proprotein convertase subtilisine/kexin type 1 gene (PCSK1), which encodes proprotein convertase 1/3, causes a severe…”
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Loss of Furin in β-Cells Induces an mTORC1-ATF4 Anabolic Pathway That Leads to β-Cell Dysfunction
Published in Diabetes (New York, N.Y.) (01-02-2021)“…FURIN is a proprotein convertase (PC) responsible for proteolytic activation of a wide array of precursor proteins within the secretory pathway. It maps to the…”
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Common nonsynonymous variants in PCSK1 confer risk of obesity
Published in Nature genetics (01-08-2008)“…Philippe Froguel and colleagues report that common nonsynonymous variants in PCSK1 , encoding a prohormone convertase, confer risk of obesity in individuals of…”
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In Vivo Analysis of the Contribution of Proprotein Convertases to the Processing of FGF23
Published in Frontiers in endocrinology (Lausanne) (04-06-2021)“…Fibroblast growth factor 23 (FGF23) is a hormone secreted from fully differentiated osteoblasts and osteocytes that inhibits phosphate reabsorption by kidney…”
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Decidual Differentiation of Stromal Cells Promotes Proprotein Convertase 5/6 Expression and Lefty Processing
Published in Endocrinology (Philadelphia) (01-12-2005)“…Lefty/Ebaf polypeptides, novel members of the TGF-β superfamily, are involved in endometrial differentiation and embryo implantation. Recently, we showed that,…”
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Loss of Endothelial Furin Leads to Cardiac Malformation and Early Postnatal Death
Published in Molecular and Cellular Biology (01-09-2012)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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