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10491763 | 10491763 | 0 | 10491763 | Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion.
The transcription factor hepatocyte nuclear factor (HNF)-6 is an upstream regulator of several genes involved in the pathogenesis of maturity-onset diabetes of t... | [
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10661407 | 10661407 | 0 | 10661407 | Langerin, a novel C-type lectin specific to Langerhans cells, is an endocytic receptor that induces the formation of Birbeck granules.
We have identified a type II Ca2+-dependent lectin displaying mannose-binding specificity, exclusively expressed by Langerhans cells (LC), and named Langerin. LC are uniquely characteri... | [
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10788334 | 10788334 | 0 | 10788334 | Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with... | [
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11009181 | 11009181 | 0 | 11009181 | Apomorphine: an underutilized therapy for Parkinson's disease.
Apomorphine was the first dopaminergic drug ever used to treat symptoms of Parkinson's disease. While powerful antiparkinsonian effects had been observed as early as 1951, the potential of treating fluctuating Parkinson's disease by subcutaneous administrat... | [] | [] | [] |
11054569 | 11054569 | 0 | 11054569 | Rab6c, a new member of the rab gene family, is involved in drug resistance in MCF7/AdrR cells.
A new Rab6 homolog cDNA, Rab6c, was discovered by a hypermethylated DNA fragment probe that was isolated from a human multidrug resistant (MDR) breast cancer cell line, MCF7/AdrR, by the methylation sensitive-representational... | [
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11773892 | 11773892 | 0 | 11773892 | End-stage renal disease (ESRD) after orthotopic liver transplantation (OLTX) using calcineurin-based immunotherapy: risk of development and treatment.
BACKGROUND: The calcineurin inhibitors cyclosporine and tacrolimus are both known to be nephrotoxic. Their use in orthotopic liver transplantation (OLTX) has dramaticall... | [
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167
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11
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12442272 | 12442272 | 0 | 12442272 | D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype.
More than 100 different heterozygous mutations in copper/zinc superoxide dismutase (SOD1) have been found in patients with amyotrophic lateral sclerosis (ALS), a f... | [
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1353340 | 1353340 | 0 | 1353340 | Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.
We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In ... | [
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14722929 | 14722929 | 0 | 14722929 | Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants.
A large proportion of non-syndromic autosomal recessive deafness (NSARD) in many populations is caused by variants of the GJB2 gene. Here, the frequency of GJB2 variants was studied in 406 and 183 apparently unrelated childre... | [
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15099351 | 15099351 | 0 | 15099351 | Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia.
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gen... | [
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15122708 | 15122708 | 0 | 15122708 | Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes accoun... | [
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15177686 | 15177686 | 0 | 15177686 | Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes.
DiGeorge and Velocardiofacial syndromes (DGS/VCFS) are endowed by a similar complex phenotype including cardiovascular, craniofacial, and thymic malformations, and are associated with heterozygous deletions of 22q11 chro... | [
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15188772 | 15188772 | 0 | 15188772 | Severe reversible left ventricular systolic and diastolic dysfunction due to accidental iatrogenic epinephrine overdose.
Catecholamine-induced cardiomyopathy due to chronic excess of endogenous catecholamines has been recognized for decades as a clinical phenomenon. In contrast, reports of myocardial dysfunction due to... | [] | [] | [] |
15266215 | 15266215 | 0 | 15266215 | Effects of the cyclooxygenase-2 specific inhibitor valdecoxib versus nonsteroidal antiinflammatory agents and placebo on cardiovascular thrombotic events in patients with arthritis.
There have been concerns that the risk of cardiovascular thrombotic events may be higher with cyclooxygenase (COX)-2-specific inhibitors t... | [
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16005363 | 16005363 | 0 | 16005363 | Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome.
Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus. Affected individuals may also have renal... | [
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16200390 | 16200390 | 0 | 16200390 | A genetic analysis of serotonergic biosynthetic and metabolic enzymes in migraine using a DNA pooling approach.
Migraine is a common debilitating primary headache disorder with significant mental, physical and social health implications. The brain neurotransmitter 5-hydroxytryptamine (5-HT; serotonin) is involved in no... | [
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16369751 | 16369751 | 0 | 16369751 | 5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine.
Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was... | [] | [] | [] |
16596970 | 16596970 | 0 | 16596970 | Pilocarpine seizures cause age-dependent impairment in auditory location discrimination.
Children who have status epilepticus have continuous or rapidly repeating seizures that may be life-threatening and may cause life-long changes in brain and behavior. The extent to which status epilepticus causes deficits in audito... | [] | [] | [] |
17000021 | 17000021 | 0 | 17000021 | No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations.
INTRODUCTION: The PTPN22 is a negative regulator of the T cell response. Its +1858C>T (R620W) polymorphism has been shown to associate with a risk ... | [
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17006606 | 17006606 | 0 | 17006606 | A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population.
Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk, of which IL1B-31T/C and -511C/T changes have been well investigated due to ... | [
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17035713 | 17035713 | 0 | 17035713 | Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy.
Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. Depletion of sulfhydryl (SH) groups has been repor... | [
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1711760 | 1711760 | 0 | 1711760 | Delayed institution of hypertension during focal cerebral ischemia: effect on brain edema.
The effect of induced hypertension instituted after a 2-h delay following middle cerebral artery occlusion (MCAO) on brain edema formation and histochemical injury was studied. Under isoflurane anesthesia, the MCA of 14 spontaneo... | [] | [] | [] |
17391797 | 17391797 | 0 | 17391797 | The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population.
BACKGROUND/AIMS: The genetic predisposition on the development of nonalcoholic steatohepatitis (NASH) has been poorly understood. A functional polymorphism Val175Met was ... | [
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17495183 | 17495183 | 0 | 17495183 | Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.
We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomod... | [
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17595233 | 17595233 | 0 | 17595233 | Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease.
BACKGROUND AND AIMS: A number of antibodies against microbial epitopes or self-antigens have been associated with Crohn's disease. The development of antibodies reflects a loss of t... | [
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17683901 | 17683901 | 0 | 17683901 | An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.
Achondroplasia is the most common form of dwarfism and has an incidence of approximately 1/7500. In more than 98% of cases, the disease is associated with a G to A or G to C substitution at nucleotide pos... | [
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18166824 | 18166824 | 0 | 18166824 | Genetic investigation of four meiotic genes in women with premature ovarian failure.
OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. cerevisiae homolog (SPO11), were associated with premature ovarian failure ... | [
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18408250 | 18408250 | 0 | 18408250 | A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population.
OBJECTIVES: Interferon regulatory factor 5 (IRF5) is a member of the IRF family of transcription factors, which regulate the production of proinflammatory cytokines. Polymor... | [
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18439317 | 18439317 | 0 | 18439317 | Association between promoter -1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese.
BACKGROUND: Matrix metalloproteinases (MMPs) are involved in the degradation of the extracellular matrix of the intervertebral disc. A SNP for guanine insertion/deletion (G/D), the -1607 promoter polymorphism, of the MM... | [
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18657397 | 18657397 | 0 | 18657397 | Detailed spectral profile analysis of penicillin-induced epileptiform activity in anesthetized rats.
Penicillin model is a widely used experimental model for epilepsy research. In the present study we aimed to portray a detailed spectral analysis of penicillin-induced epileptiform activity in comparison with basal brai... | [] | [] | [] |
18681856 | 18681856 | 0 | 18681856 | Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene.
OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin re... | [
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19067809 | 19067809 | 0 | 19067809 | Hemodynamic parameters and heart rate variability during a tilt test in relation to gene polymorphism of renin-angiotensin and serotonin system.
PURPOSE: The aim of the study was to evaluate the renin-angiotensin system and serotonin transporter gene polymorphisms in relation to hemodynamic parameters and heart rate va... | [
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19508969 | 19508969 | 0 | 19508969 | Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identifi... | [
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19521089 | 19521089 | 0 | 19521089 | Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy.
Parkinson's disease (PD) is a neurodegenerative disorder causing muscular rigidity, resting tremor and bradykinesia. We conducted an association study assessing how PD risk in Italy was influenced by the... | [
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19728177 | 19728177 | 0 | 19728177 | Prolonged hypothermia as a bridge to recovery for cerebral edema and intracranial hypertension associated with fulminant hepatic failure.
BACKGROUND: To review evidence-based treatment options in patients with cerebral edema complicating fulminant hepatic failure (FHF) and discuss the potential applications of hypother... | [] | [] | [] |
19881468 | 19881468 | 0 | 19881468 | hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type.
Human 8-oxoguanine DNA glycosylase 1 (hOGG1) has a major role in the repair of 8-hydroxyguanine, a major promutagenic DNA lesion. The genetic polymorphism rs1052133, which leads to substitution of the amino acid at codon 326 from Ser to Cys, sho... | [
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20005218 | 20005218 | 0 | 20005218 | A potential regulatory single nucleotide polymorphism in the promoter of the Klotho gene may be associated with essential hypertension in the Chinese Han population.
BACKGROUND: Mice with defects in the Klotho gene exhibit multiple aging phenotypes including arteriosclerosis. We hypothesised that the G-395A polymorphis... | [
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20034406 | 20034406 | 0 | 20034406 | Chemokine CCL2 and its receptor CCR2 are increased in the hippocampus following pilocarpine-induced status epilepticus.
BACKGROUND: Neuroinflammation occurs after seizures and is implicated in epileptogenesis. CCR2 is a chemokine receptor for CCL2 and their interaction mediates monocyte infiltration in the neuroinflamm... | [
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20105310 | 20105310 | 0 | 20105310 | Association of adipocyte genes with ASP expression: a microarray analysis of subcutaneous and omental adipose tissue in morbidly obese subjects.
BACKGROUND: Prevalence of obesity is increasing to pandemic proportions. However, obese subjects differ in insulin resistance, adipokine production and co-morbidities. Based o... | [
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20606392 | 20606392 | 0 | 20606392 | Atypical GH insensitivity syndrome and severe insulin-like growth factor-I deficiency resulting from compound heterozygous mutations of the GH receptor, including a novel frameshift mutation affecting the intracellular domain.
BACKGROUND/AIMS: GH insensitivity and IGF deficiency may result from aberrations of the GH re... | [
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20708777 | 20708777 | 0 | 20708777 | Association of DNA polymorphisms within the CYP11B2/CYP11B1 locus and postoperative hypertension risk in the patients with aldosterone-producing adenomas.
OBJECTIVES: Hypertension often persists after adrenalectomy for primary aldosteronism. Traditional factors associated with postoperative hypertension were evaluated,... | [
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514,
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908,
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20806042 | 20806042 | 0 | 20806042 | A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.
PURPOSE: To identify the underlying genetic defect in a four-generation family of Chinese origin with autosomal dominant congenital cataract-microcornea syndrome (CCMC). METHODS: All individuals in the study underwent a ful... | [
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21163864 | 21163864 | 0 | 21163864 | The M235T polymorphism of the angiotensinogen gene in South Indian patients of hypertrophic cardiomyopathy.
INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is a complex disorder and genetically transmitted cardiac disease with a diverse clinical course. The objective of the present study was to examine the association ... | [
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21615796 | 21615796 | 0 | 21615796 | Interleukin-17F gene polymorphism in patients with chronic immune thrombocytopenia.
INTRODUCTION: IL-17F is a novel inflammatory cytokine and plays an important role in some autoimmune diseases. We investigated the association between chronic ITP and the frequency of the single-nucleotide polymorphism rs763780 (7488T/C... | [
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21682595 | 21682595 | 0 | 21682595 | XRCC1 Arg399Gln gene polymorphism and the risk of systemic lupus erythematosus in the Polish population.
It has been shown that DNA repair is reduced in patients with systemic lupus erythematosus (SLE) and that the X-ray repair cross-complementing (XRCC1) Arg399Gln (rs25487) polymorphism may contribute to DNA repair. W... | [
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22808010 | 22808010 | 0 | 22808010 | Defining an EPOR- regulated transcriptome for primary progenitors, including Tnfr-sf13c as a novel mediator of EPO- dependent erythroblast formation.
Certain concepts concerning EPO/EPOR action modes have been challenged by in vivo studies: Bcl-x levels are elevated in maturing erythroblasts, but not in their progenito... | [
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24126708 | 24126708 | 0 | 24126708 | Association of common genetic variants of HOMER1 gene with levodopa adverse effects in Parkinson's disease patients.
Levodopa is the most effective symptomatic therapy for Parkinson's disease, but its chronic use could lead to chronic adverse outcomes, such as motor fluctuations, dyskinesia and visual hallucinations. H... | [
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2422478 | 2422478 | 0 | 2422478 | Midline B3 serotonin nerves in rat medulla are involved in hypotensive effect of methyldopa.
Previous experiments in this laboratory have shown that microinjection of methyldopa onto the ventrolateral cells of the B3 serotonin neurons in the medulla elicits a hypotensive response mediated by a projection descending int... | [] | [] | [] |
24623966 | 24623966 | 0 | 24623966 | Endothelial NADPH oxidase 4 mediates vascular endothelial growth factor receptor 2-induced intravitreal neovascularization in a rat model of retinopathy of prematurity.
PURPOSE: NADPH oxidase-generated reactive oxygen species (ROS) are implicated in angiogenesis. Isoforms of NADPH oxidase NOX1, NOX2, and NOX4 are repor... | [
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24632946 | 24632946 | 0 | 24632946 | Disruption of the temporally regulated cloaca endodermal b-catenin signaling causes anorectal malformations.
The cloaca is temporally formed and eventually divided by the urorectal septum (URS) during urogenital and anorectal organ development. Although congenital malformations, such as anorectal malformations (ARMs), ... | [
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24911645 | 24911645 | 0 | 24911645 | Behavioral and neurochemical studies in mice pretreated with garcinielliptone FC in pilocarpine-induced seizures.
Garcinielliptone FC (GFC) isolated from hexanic fraction seed extract of species Platonia insignis Mart. It is widely used in folk medicine to treat skin diseases in both humans and animals as well as the s... | [
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24971338 | 24971338 | 0 | 24971338 | Conversion to sirolimus ameliorates cyclosporine-induced nephropathy in the rat: focus on serum, urine, gene, and protein renal expression biomarkers.
Protocols of conversion from cyclosporin A (CsA) to sirolimus (SRL) have been widely used in immunotherapy after transplantation to prevent CsA-induced nephropathy, but ... | [
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25054547 | 25054547 | 0 | 25054547 | Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium.
Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have mutations in the BCHE g... | [
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25983002 | 25983002 | 0 | 25983002 | Inhibition of LDHA suppresses tumor progression in prostate cancer.
A key hallmark of cancer cells is their altered metabolism, known as Warburg effect. Lactate dehydrogenase A (LDHA) executes the final step of aerobic glycolysis and has been reported to be involved in the tumor progression. However, the function of LD... | [
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27640183 | 27640183 | 0 | 27640183 | Erythropoietin does not activate erythropoietin receptor signaling or lipolytic pathways in human subcutaneous white adipose tissue in vivo.
BACKGROUND: Erythropoietin (Epo) exerts direct effects on white adipose tissue (WAT) in mice in addition to its erythropoietic effects, and in humans Epo increases resting energy ... | [
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27999109 | 27999109 | 0 | 27999109 | A Critical Role for the Type I Interferon Receptor in Virus-Induced Autoimmune Diabetes in Rats.
The pathogenesis of human type 1 diabetes, characterized by immune-mediated damage of insulin-producing b-cells of pancreatic islets, may involve viral infection. Essential components of the innate immune antiviral response... | [
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28411266 | 28411266 | 0 | 28411266 | Genetic Variation at the Sulfonylurea Receptor, Type 2 Diabetes, and Coronary Heart Disease.
Despite widespread clinical use in the treatment of type 2 diabetes, the impact of sulfonylurea therapy on cardiovascular outcomes remains uncertain. Studies of naturally occurring genetic variation can be used to anticipate th... | [
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28428256 | 28428256 | 0 | 28428256 | Regulation of lung endothelial permeability and inflammatory responses by prostaglandin A2: role of EP4 receptor.
The role of prostaglandin A2 (PGA2) in modulation of vascular endothelial function is unknown. We investigated effects of PGA2 on pulmonary endothelial cell (EC) permeability and inflammatory activation and... | [
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28487437 | 28487437 | 0 | 28487437 | Hypoglycemic Effect of Combined Ghrelin and Glucagon Receptor Blockade.
Glucagon receptor (GcgR) blockade has been proposed as an alternative to insulin monotherapy for treating type 1 diabetes since deletion or inhibition of GcgRs corrects hyperglycemia in models of diabetes. The factors regulating glycemia in a setti... | [
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28777492 | 28777492 | 0 | 28777492 | Gankyrin induces STAT3 activation in tumor microenvironment and sorafenib resistance in hepatocellular carcinoma.
Most hepatocellular carcinomas (HCC) develop as a result of chronic liver inflammation. We have shown that the oncoprotein gankyrin is critical for inflammation-induced tumorigenesis in the colon. Although ... | [
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7018927 | 7018927 | 0 | 7018927 | Pituitary response to luteinizing hormone-releasing hormone during haloperidol-induced hyperprolactinemia.
The effects of a 6-hour infusion with haloperidol on serum prolactin and luteinizing hormone (LH) levels was studied in a group of male subjects. Five hours after starting the infusions, a study of the pituitary r... | [
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7468724 | 7468724 | 0 | 7468724 | Cardiovascular complications associated with terbutaline treatment for preterm labor.
Severe cardiovascular complications occurred in eight of 160 patients treated with terbutaline for preterm labor. Associated corticosteroid therapy and twin gestations appear to be predisposing factors. Potential mechanisms of the pat... | [] | [] | [] |
7668252 | 7668252 | 0 | 7668252 | Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients.
Two overlapping cDNA clones (1, 991 bp and 736 bp, respectively) encoding the precursor of human mitochondrial very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) were cloned and sequenced.... | [
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7905839 | 7905839 | 0 | 7905839 | Human mu opiate receptor. cDNA and genomic clones, pharmacologic characterization and chromosomal assignment.
A human mu opiate receptor cDNA has been identified from a cerebral cortical cDNA library using sequences from the rat mu opiate receptor cDNA. The human mu opiate receptor (h mu OR1) shares 95% amino acid iden... | [
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8002973 | 8002973 | 0 | 8002973 | Adrenoleukodystrophy gene encodes an 80 kDa membrane protein.
An antibody against the synthetic C-terminal peptides deduced from the cDNA of the gene responsible for X-linked adrenoleukodystrophy (ALD) was produced to characterize the product of the ALD gene. The antibody reacted with the 80 kDa band protein in control... | [
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8755918 | 8755918 | 0 | 8755918 | Mutations associated with variant phenotypes in ataxia-telangiectasia.
We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10% -15% of A-T families identified in the United Kingdom). In 10 of th... | [
160,
1298
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3
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9294109 | 9294109 | 0 | 9294109 | Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells.
Myotonic dystrophy (DM), the most prevalent muscular disorder in adults, is caused by (CTG) n-repeat expansion in a gene encoding a protein kinase (DM protein kinase; DMPK) and involves changes in cytoarchi... | [
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9647766 | 9647766 | 0 | 9647766 | cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed.
NADH:ubiquinone oxidoreductase (complex I) of the mitochondrial respiratory chain can be fragmented in a flavoprotein (FP), iron-sulfur protein (IP... | [
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9746003 | 9746003 | 0 | 9746003 | Inappropriate use of carbamazepine and vigabatrin in typical absence seizures.
Carbamazepine and vigabatrin are contraindicated in typical absence seizures. Of 18 consecutive referrals of children with resistant typical absences only, eight were erroneously treated with carbamazepine either as monotherapy or as an add-... | [] | [] | [] |
15459183 | 15459183 | 0 | 15459183 | CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B.
We previously reported association of FCGR2B-Ile232Thr with systemic lupus erythematosus (SLE) in three Asian populations. Because polymorphism of CD72, another ... | [
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496,
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15599941 | 15599941 | 0 | 15599941 | Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer.
BACKGROUND: Recent data has suggested that polymorphisms in the prostate specific antigen (PSA) may increase prostate cancer (PC) risk. The PSA gene contains a G/A substitution in the an... | [
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15609295 | 15609295 | 0 | 15609295 | Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome.
Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) ... | [
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16288197 | 16288197 | 0 | 16288197 | Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree.
PURPOSE: Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with myopia and juvenile open angle glaucoma. Linkage to the chromosomal locus 13q31-q32 has previously been reported in a l... | [
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17177139 | 17177139 | 0 | 17177139 | A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome.
Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable periph... | [
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17634480 | 17634480 | 0 | 17634480 | Common germline genetic variation in antioxidant defense genes and survival after diagnosis of breast cancer.
PURPOSE: The prognosis of breast cancer varies considerably among individuals, and inherited genetic factors may help explain this variability. Of particular interest are genes involved in defense against react... | [
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18699851 | 18699851 | 0 | 18699851 | Integrated genomic and expression profiling in mantle cell lymphoma: identification of gene-dosage regulated candidate genes.
Mantle cell lymphoma (MCL) is characterized by the t(11;14)(q13;q32) translocation and several other cytogenetic aberrations, including heterozygous loss of chromosomal arms 1p, 6q, 11q and 13q ... | [
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20086182 | 20086182 | 0 | 20086182 | The six-nucleotide deletion/insertion variant in the CASP8 promoter region is inversely associated with risk of squamous cell carcinoma of the head and neck.
Caspase 8 (CASP8) is an apoptosis-related cysteine peptidase involved in the death receptor pathway and likely in the mitochondrial pathway. A CASP8 promoter regi... | [
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24914936 | 24914936 | 0 | 24914936 | Thyroid hormone receptor a mutation causes a severe and thyroxine-resistant skeletal dysplasia in female mice.
A new genetic disorder has been identified that results from mutation of THRA, encoding thyroid hormone receptor a1 (TRa1). Affected children have a high serum T3:T4 ratio and variable degrees of intellectual ... | [
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27014915 | 27014915 | 0 | 27014915 | NF-kB functions as a molecular link between tumor cells and Th1/Tc1 T cells in the tumor microenvironment to exert radiation-mediated tumor suppression.
Radiation modulates both tumor cells and immune cells in the tumor microenvironment to exert its anti-tumor activity; however, the molecular connection between tumor c... | [
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27959382 | 27959382 | 0 | 27959382 | Bach1 siRNA attenuates bleomycin-induced pulmonary fibrosis by modulating oxidative stress in mice.
Oxidative stress plays an essential role in inflammation and fibrosis. Bach1 is an important transcriptional repressor that acts by modulating oxidative stress and represents a potential target in the treatment of pulmon... | [
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28368537 | 28368537 | 0 | 28368537 | Tissue-Specific Ablation of the LIF Receptor in the Murine Uterine Epithelium Results in Implantation Failure.
The cytokine leukemia inhibitory factor (LIF) is essential for rendering the uterus receptive for blastocyst implantation. In mice, LIF receptor expression (LIFR) is largely restricted to the uterine luminal e... | [
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28650467 | 28650467 | 0 | 28650467 | Genome-wide loss-of-function genetic screening identifies opioid receptor u1 as a key regulator of L-asparaginase resistance in pediatric acute lymphoblastic leukemia.
L-asparaginase is a critical chemotherapeutic agent for acute lymphoblastic leukemia (ALL). It hydrolyzes plasma asparagine into aspartate and NH3, caus... | [
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15748645 | 15748645 | 0 | 15748645 | Photochemoprevention of ultraviolet B signaling and photocarcinogenesis.
Exposure to solar radiation, particularly its ultraviolet (UV) B component, has a variety of harmful effects on human health. Some of these effects include sunburn cell formation, basal and squamous cell cancers, melanoma, cataracts, photoaging of... | [
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16543197 | 16543197 | 0 | 16543197 | A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
PURPOSE: To identify the genetic basis of recessive inheritance of high hyperopia and Leber congenital amaurosis (LCA) in a family of Middle Eastern origin. MATERIALS AND METHODS: The patients were examined using standard opht... | [
21,
770,
854,
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16574712 | 16574712 | 0 | 16574712 | MDMA polydrug users show process-specific central executive impairments coupled with impaired social and emotional judgement processes.
In recent years working memory deficits have been reported in users of MDMA (3,4-methylenedioxymethamphetamine, ecstasy). The current study aimed to assess the impact of MDMA use on th... | [] | [] | [] |
16575011 | 16575011 | 0 | 16575011 | Tumor thymidylate synthase 1494del6 genotype as a prognostic factor in colorectal cancer patients receiving fluorouracil-based adjuvant treatment.
PURPOSE: The purpose of this study was to analyze the value of germline and tumor thymidylate synthase (TS) genotyping as a prognostic marker in a series of colorectal cance... | [
6,
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17074608 | 17074608 | 0 | 17074608 | Valproate-induced chorea and encephalopathy in atypical nonketotic hyperglycinemia.
Nonketotic hyperglycinemia is a disorder of amino acid metabolism in which a defect in the glycine cleavage system leads to an accumulation of glycine in the brain and other body compartments. In the classical form it presents as neonat... | [] | [] | [] |
18310445 | 18310445 | 0 | 18310445 | Bone morphogenetic protein-4 interacts with activin and GnRH to modulate gonadotrophin secretion in LbetaT2 gonadotrophs.
We have shown previously that, in sheep primary pituitary cells, bone morphogenetic proteins (BMP)-4 inhibits FSHbeta mRNA expression and FSH release. In contrast, in mouse LbetaT2 gonadotrophs, oth... | [
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19082493 | 19082493 | 0 | 19082493 | Combination of polymorphisms within 5' and 3' untranslated regions of thymidylate synthase gene modulates survival in 5 fluorouracil-treated colorectal cancer patients.
In the present study we explored the effect of three polymorphisms of the TS gene on overall and progression- free survival of colorectal cancer (CRC) ... | [
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19218574 | 19218574 | 0 | 19218574 | Phosphatidylinositol 3-kinase p85alpha regulatory subunit gene Met326Ile polymorphism in women with polycystic ovary syndrome.
BACKGROUND: Insulin resistance is a core feature of polycystic ovary syndrome (PCOS). Phosphatidylinositol (PI) 3-kinase is an important enzyme in the early insulin signaling cascade and plays ... | [
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19996135 | 19996135 | 0 | 19996135 | High-dose tranexamic Acid is associated with nonischemic clinical seizures in cardiac surgical patients.
BACKGROUND: In 2 separate centers, we observed a notable increase in the incidence of postoperative convulsive seizures from 1.3% to 3.8% in patients having undergone major cardiac surgical procedures. These events ... | [] | [] | [] |
20477932 | 20477932 | 0 | 20477932 | Cocaine causes memory and learning impairments in rats: involvement of nuclear factor kappa B and oxidative stress, and prevention by topiramate.
Different mechanisms have been suggested for cocaine toxicity including an increase in oxidative stress but the association between oxidative status in the brain and cocaine ... | [
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24587916 | 24587916 | 0 | 24587916 | Antioxidant effects of bovine lactoferrin on dexamethasone-induced hypertension in rat.
Dexamethasone- (Dex-) induced hypertension is associated with enhanced oxidative stress. Lactoferrin (LF) is an iron-binding glycoprotein with antihypertensive properties. In this study, we investigated the effect of chronic adminis... | [
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24743235 | 24743235 | 0 | 24743235 | IL-3 and CSF-1 interact to promote generation of CD11c+ IL-10-producing macrophages.
Unraveling the mechanisms of hematopoiesis regulated by multiple cytokines remains a challenge in hematology. IL-3 is an allergic cytokine with the multilineage potential, while CSF-1 is produced in the steady state with restricted lin... | [
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28348168 | 28348168 | 0 | 28348168 | FGFR2 is required for airway basal cell self-renewal and terminal differentiation.
Airway stem cells slowly self-renew and produce differentiated progeny to maintain homeostasis throughout the lifespan of an individual. Mutations in the molecular regulators of these processes may drive cancer or degenerative disease, b... | [
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28398555 | 28398555 | 0 | 28398555 | Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia.
Dystonia is a neurological movement disorder that forces the body into twisting, repetitive movements or sometimes painful abnormal postures. With the advent of next-generation sequencing technologies, the homozygous muta... | [
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30442153 | 30442153 | 0 | 30442153 | Ca2+-dependent endoplasmic reticulum stress correlation with astrogliosis involves upregulation of KCa3.1 and inhibition of AKT/mTOR signaling.
BACKGROUND: The intermediate-conductance Ca2+-activated K+ channel KCa3.1 was recently shown to control the phenotype switch of reactive astrogliosis (RA) in Alzheimer's diseas... | [
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15461822 | 15461822 | 0 | 15461822 | Vaccine candidates derived from a novel infectious cDNA clone of an American genotype dengue virus type 2.
BACKGROUND: A dengue virus type 2 (DEN-2 Tonga/74) isolated from a 1974 epidemic was characterized by mild illness and belongs to the American genotype of DEN-2 viruses. To prepare a vaccine candidate, a previousl... | [
1381
] | [
3
] | [
0
] |
16418600 | 16418600 | 0 | 16418600 | Genetic investigation of the TSPYL1 gene in sudden infant death syndrome.
BACKGROUND: Sudden infant death syndrome (SIDS) constitutes the most frequent cause of death in the postperinatal period in Germany. Recently, a lethal phenotype characterized by sudden infant death with dysgenesis of the testes syndrome (SIDDT) ... | [
29,
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1327,
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16720068 | 16720068 | 0 | 16720068 | Possible neuroleptic malignant syndrome related to concomitant treatment with paroxetine and alprazolam.
A 74-year-old man with depressive symptoms was admitted to a psychiatric hospital due to insomnia, loss of appetite, exhaustion, and agitation. Medical treatment was initiated at a daily dose of 20 mg paroxetine and... | [] | [] | [] |
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