Search Results - "te Morsche, René H M"
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Heterozygosity of ALG9 in Association with Autosomal Dominant Polycystic Liver Disease
Published in Genes (01-09-2023)“…α-1,2-mannosyltransferase (ALG9) germline variants are linked to autosomal dominant polycystic kidney disease (ADPKD). Many individuals affected with ADPKD…”
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Loss of heterozygosity is present in SEC63 germline carriers with polycystic liver disease
Published in PloS one (28-11-2012)“…Polycystic liver disease (PCLD) is an autosomal dominant disorder characterised by multiple fluid filled cysts in the liver. This rare disease is caused by…”
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3
Novel α-1,3-Glucosyltransferase Variants and Their Broad Clinical Polycystic Liver Disease Spectrum
Published in Genes (19-08-2023)“…Protein-truncating variants in α-1,3-glucosyltransferase ( ) are a risk factor for a mild cystic kidney disease phenotype. The association between these…”
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4
Paroxysmal extreme pain disorder: a molecular lesion of peripheral neurons
Published in Nature reviews. Neurology (01-01-2011)“…Choi et al . describe the case of a 3 month-old infant who, on the second day of life, had begun to experience painful paroxysmal events starting with tonic…”
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5
Effect of a specific cyclooxygenase-gene polymorphism (A-842G/C50T) on the occurrence of peptic ulcer hemorrhage
Published in Digestive diseases and sciences (01-12-2006)“…Cyclooxygenases (COX) catalyze the conversion of arachidonic acid to prostaglandins (PGs). COX-inhibiting drugs, such as nonsteroidal anti-inflammatory drugs…”
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6
Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis
Published in Proceedings of the National Academy of Sciences - PNAS (08-04-2014)“…Polycystic livers are seen in the rare inherited disorder isolated polycystic liver disease (PCLD) and are recognized as the most common extrarenal…”
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Novel GANAB variants associated with polycystic liver disease
Published in Orphanet journal of rare diseases (23-10-2020)“…Polycystic liver disease (PLD) is an inherited disorder characterized by numerous cysts in the liver. Autosomal dominant polycystic kidney and liver disease…”
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Short mucin 6 alleles are associated with H pylori infection
Published in World journal of gastroenterology : WJG (07-10-2006)“…AIM: To investigate the relationship between mucin 6 (MUC6) VNTR length and Hpylori infection. METHODS: Blood samples were collected from patients visiting the…”
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Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene
Published in Journal of clinical laboratory analysis (01-09-2016)“…Background Isolated polycystic liver disease (ADPLD) is an autosomal dominant Mendelian disorder. Heterozygous PRKCSH (where PRKCSH is protein kinase C…”
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10
LRP5 variants may contribute to ADPKD
Published in European journal of human genetics : EJHG (01-02-2016)“…Mutations in Polycystic Kidney Disease proteins (PKD1 or PKD2) are causative for autosomal dominant polycystic kidney disease (ADPKD). However, a small subset…”
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Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p
Published in Histochemistry and cell biology (01-03-2008)“…Polycystic liver disease (PCLD) is an inherited disorder caused by mutations in either PRKCSH (hepatocystin) or SEC63 (Sec63p). However, expression patterns of…”
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Influence of Curcumin, Quercetin, and Eicosapentaenoic Acid on the Expression of Phase II Detoxification Enzymes in the Intestinal Cell Lines HT-29, Caco-2, HuTu 80, and LT97
Published in Nutrition and cancer (01-08-2012)“…Curcumin, quercetin, and eicosapentaenoic acid (EPA) are 3 natural compounds with the capacity to reduce adenoma burden in patients with familial adenomatous…”
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13
Cyclooxygenase-2 polymorphisms and the risk of esophageal adeno- or squamous cell carcinoma
Published in World journal of gastroenterology : WJG (28-07-2009)“…AIM: TO determine whether -1195 A→G and/or -765 G→C polymorphisms in Cyclooxygenase-2 CCOX-2) may have a risk modifying effect on the development of esophageal…”
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14
The functional -765G→C polymorphism of the COX-2 gene may reduce the risk of developing crohn's disease
Published in PloS one (24-11-2010)“…Cyclooxygenase-2 (COX-2) is a key enzyme involved in the conversion of arachidonic acid into prostaglandins. COX-2 is mainly induced at sites of inflammation…”
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15
Infliximab Exerts No Direct Hepatotoxic Effect on HepG2 Cells In Vitro
Published in Digestive diseases and sciences (01-06-2012)“…Background Infliximab-induced hepatotoxicity is reported in several case studies involving patients with inflammatory bowel disease (IBD) and a direct…”
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16
Common variants in glyoxalase I do not increase chronic pancreatitis risk
Published in PloS one (29-10-2019)“…Chronic pancreatitis (CP) may be caused by oxidative stress. An important source of reactive oxygen species (ROS) is the methylglyoxal-derived formation of…”
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Over-expression of COX-2 mRNA in colorectal cancer
Published in BMC gastroenterology (02-01-2014)“…Cyclooxygenase-2 (COX-2, PTGS2) is an enzyme involved in the synthesis of prostaglandins and thromboxanes, which are regulators of biologic processes such as…”
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Celecoxib and tauro-ursodeoxycholic acid co-treatment inhibits cell growth in familial adenomatous polyposis derived LT97 colon adenoma cells
Published in Experimental cell research (15-04-2012)“…Chemoprevention would be a desirable strategy to avoid duodenectomy in patients with familial adenomatous polyposis (FAP) suffering from duodenal adenomatosis…”
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COX-2 polymorphisms and the risk for head and neck cancer in white patients
Published in Head & neck (01-07-2009)“…Background. Cyclooxygenase‐2 (COX‐2) is an enzyme involved in the synthesis of prostaglandins and thromboxanes, which are regulators of processes such as…”
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Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy
Published in Brain (London, England : 1878) (01-09-2012)“…Patients with small fibre neuropathy typically manifest pain in distal extremities and severe autonomic dysfunction. However, occasionally patients present…”
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