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<context> Strikingly, in addition to ULK1 and ULK2, ATG13 and FIP200 interacted with human ATG8 proteins, all with strong preference for the GABARAP subfamily. The expansion of the ATG8 family in higher eukaryotes suggests that specific interactions with autophagy receptors facilitate differential cargo handling. How...
<context> The C-terminal decapeptide of prothymosin α is responsible for its stimulatory effect on the functions of human neutrophils in vitro In this study, we investigated the ability of the immunoreactive fragment of the polypeptide prothymosin alpha (proTα), i.e., the decapeptide proTα(100-109), to enhance the fu...
<context> Reconfigurable computing hardware, such as Field-Programmable Gate Arrays (FPGAs), provides one approach to the acceleration of biological sequence alignment. Most efforts to accelerate bio-sequence applications with hardware have focused solely on database searches and have employed a pairwise local compar...
<context> Our program Sherlocc, detects statistically relevant conserved rare codon clusters and produces a user-friendly HTML output. LaTcOm: a web server for visualizing rare codon clusters in coding sequences We present LaTcOm, a new web tool, which offers several alternative methods for 'rare codon cluster' (RCC)...
<context> Selective autophagy Macroautophagy (autophagy) is a bulk degradation system for cytoplasmic components and is ubiquitously found in eukaryotic cells Here we show that selective autophagy downregulates Ty1 transposition We propose that selective autophagy safeguards genome integrity against excessive inserti...
<context> Tuberous sclerosis complex (TSC) is a genetic disease Tuberous sclerosis is a rare genetic disease Tuberous sclerosis complex (TSC) is a multisystem genetic disease Tuberous sclerosis complex (TSC) is a genetic disease The disease is caused by mutational inactivation of the tumor suppressor gene tuberous sc...
<context> Integration of GWAS results with cell-type specific gene expression or epigenetic marks have highlighted regulatory T cells and CD4 memory T cells as critical cell types in RA A subset of synovial DCs is important in the response to cigarette smoke we demonstrate that autoimmune patient (systemic lupus ery...
<context> Metformin and glibenclamide are now increasingly viewed as a rational alternative to insulin therapy--a treatment both preferred by the women and a less expensive one, during pregnancy and breastfeeding. The effect of TFG on blood glucose were studied and the levels of lipid peroxidation [MDA (Malondialdehy...
<context> To describe the frequency and trends in the use of antipsychotics for adults with schizophrenia in Canada from 2005 to 2009. Antipsychotic recommendations were estimated using CDTI data in which schizophrenia was listed as the indication. RESULTS: First-generation antipsychotic (FGA) recommendations for adu...
<context> She was subsequently diagnosed with hypochondroplasia at the age of 6 years when disproportional short stature, stocky habitus and macrocephaly were observed. These phenotypic findings were later confirmed by the presence of fibroblast growth factor receptor 3 (FGFR3) gene mutation N540K. Achondroplasia can...
<context> In addition, Sir2 overexpression prevents Rif1 deletion from disrupting Sir2 at IGS1 and shortening lifespan. Roles for sirtuin proteins at telomeres are thought to promote lifespan in yeast and mammals. Overexpression of sirtuins (NAD(+)-dependent protein deacetylases) has been reported to increase lifesp...
<context> METHODS: Seventy-one patients diagnosed with primary hypothyroidism were randomly allocated into two study groups: the first group received usual dose of levothyroxine and the second group received combination of levothyroxine and liothyronine for at least 4 months. The main outcomes were psychosocial probl...
<context> Forkhead box O (FOXO) transcription factors have a conserved function in regulating metazoan lifespan. In contrast to FoxO1, FoxO3a and FoxO6 were specifically diminished in the CNS of HFD animals possibly contributing to the reduced lifespan observed in these animals. Interestingly, many target proteins of...
<context> Charcot-Marie-Tooth disease type 2D is a hereditary axonal and glycyl-tRNA synthetase (GARS)-associated neuropathy that is caused by a mutation in GARS. Mutations in the GARS gene cause Charcot-Marie-Tooth 2D and distal spinal muscular atrophy type V - allelic disorders characterized by predominantly dista...
<context> This testing is used for identifying singlegene disorders, chromosomal abnormalities, mitochondrial disorders, gender selection in non-mendelian disorders with unequal gender distribution, aneuploidy screening, and other preconceptually identified genetic abnormalities in prospective parents. Although man...
<context> A hearing screening program was performed to determine the prevalence of hearing loss and abnormal tympanometry in individuals with short-stature skeletal dysplasias attending a national meeting. Behavioral audiometry, otoacoustic emission testing, and tympanometry were used to assess hearing. Failed hearin...
<context> We characterized a family presenting with a history of ventricular fibrillation (VF) and sudden death without ECG or echocardiographic abnormalities at rest. Two siblings died suddenly at the ages of 9 and 10 years, and another two were resuscitated from out-of-hospital cardiac arrest with documented VF at ...
<context> Junctin (JCN), a 26-kd sarcoplasmic reticulum (SR) transmembrane protein, forms a quaternary protein complex with the ryanodine receptor, calsequestrin, and triadin in the SR lumen of cardiac muscle. Within this complex, calsequestrin, triadin, and JCN appear to be critical for normal regulation of ryanodin...
<context> All three deletions included SNORD116, but only two encompassed parts of SNURF-SNRPN, implicating SNORD116 as the major contributor to the Prader-Willi phenotype. Our case adds further information about genotype-phenotype correlation and supports the hypothesis that SNORD116 plays a major role in the pathog...
<context> Further analysis with array-CGH identified a mosaic 847 kb deletion in 15q11-q13, including SNURF-SNRPN, the snoRNA gene clusters SNORD116 (HBII-85), SNORD115, (HBII-52), SNORD109 A and B (HBII-438A and B), SNORD64 (HBII-13), and NPAP1 (C15ORF2). All three deletions included SNORD116, but only two encompass...
<context> We compared the suppressive effect of K201 (JTV519), a multiple-channel blocker and cardiac ryanodine receptor-calcium release channel (RyR2) stabilizer, with that of diltiazem, a Ca(2+ )channel blocker, in 2 studies of isoproterenol-induced (n = 30) and ischemic-reperfusion-induced VAs (n = 38) in rats. A...
<context> Junctin, a 26 kDa intra-sarcoplasmic reticulum (SR) protein, forms a quaternary complex with triadin, calsequestrin and the ryanodine receptor (RyR) at the junctional SR membrane. Junctin ablation appears to affect how RyRs 'sense' SR Ca(2+) load, resulting in decreased diastolic SR Ca(2+) leak despite an ...
<context> autosomal dominant FSHD1 Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disease, characterized by an autosomal dominant mode of inheritance, facial involvement, and selectivity and asymmetry of muscle involvement. Facioscapulohumeral dystrophy (FSHD) is an autosomal-dominant disorder chara...
<context> Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare arrythmogenic disease characterized by exercise--or stress--induced ventricular tachyarrythmias, syncope, or sudden death, usually in the pediatric age group. Familial occurrence has been noted in about 30% of cases. Inheritance may be a...
<context> These patients were exposed to rituximab (anti-CD20 monoclonal antibody) or abatacept (fusion protein CTLA4Ig) during the first trimester of their pregnancies. No significant adverse effects or complications were observed during the pregnancies, and all three patients delivered healthy newborns. Despite th...
<context> Recessively inherited CPVT is caused by either missense or null-allele mutations in the cardiac calsequestrin (CASQ2) gene. It was suggested that defects in CASQ2 cause protein deficiency and impair Ca(2+) uptake to the sarcoplasmic reticulum and Ca(2+)-dependent inhibition of ryanodine channels, leading to...
<context> The disease has an autosomal recessive mode of inheritance, and is characterized by excessive copper deposition, predominantly in the liver and brain. The inheritance is autosomal recessive. Wilson's disease (WD), or hepatolenticular degeneration, is an autosomal recessive inheritance disorder of copper m...
<context> Currently, there are four antivirals available that are active against CMV: ganciclovir, valganciclovir, foscarnet, and cidofovir. At present, the antiviral drugs ganciclovir, foscarnet and cidofovir are commonly used in the treatment of CMV infection and disease. Cidofovir can be considered as second-line...
<context> Five patients, ranging from Upton type 1 to type 3 Apert hand deformities, have had preoperative computed tomography angiography that delineated the vascular anatomy. This allowed planning and execution of a single-stage syndactyly release in all patients. The protocol presented allows preoperative planning...
<context> Abstract Muenke is a fibroblast growth factor receptor 3 (FGFR-3) associated syndrome, which was first described in late 1990s. The syndrome is defined molecularly by a unique point mutation c.749C>G in exon 7 of the FGFR3 gene which results to an amino acid substitution p.Pro250Arg of the protein product....
<context> Of 802 patients treated for craniosynostosis, 28 were identified with Pfeiffer syndrome: 17 were classified as type I (61 percent), seven were classified as type II (25 percent), and four were classified as type III (14 percent). Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" P...
<context> Whether the factor has the same role in humans is of clinical interest because an inhibitor for RANKL, denosumab, is already used for the treatment of bone disease and might benefit breast cancer patients. Treatment of AML cells with the clinically available RANKL Ab Denosumab resulted in enhanced NK cell a...
<context> Denosumab is a RANK-ligand antibody that was approved by the FDA in 2010 for the prevention of skeletal fractures in patients with bone metastases from solid tumors. The authors present the imaging findings and technical report of an attempted percutaneous vertebroplasty in the only patient found to be act...
<context> Adverse experiences included nausea, dizziness, and insomnia. Side effects to nalmefene were of greater duration and intensity in the subjects receiving 10 mg of nalmefene vs. those receiving 6 or 2 mg. These included most notably fatigue, lightheadedness, nausea and vomiting. The nalmefene treated group at...
<context> Opioids that stimulate the μ-opioid receptor (MOR1) are the most frequently prescribed and effective analgesics. Here we present a structural model of MOR1. Molecular dynamics simulations show a ligand-dependent increase in the conformational flexibility of the third intracellular loop that couples with the...
<context> Peroxiredoxin-2 (PRDX-2) is an antioxidant and chaperone-like protein critical for cell function. We found that the antioxidant enzyme peroxiredoxin-2 (Prx2) inversely correlated with the metastatic capacity of human melanoma cells. The aim of this study was to examine gonadotropin regulation of antioxidant...
<context> The present study utilizes in vivo amperometry to investigate the impact from unilateral 6-hydroxydopamine lesions and l-DOPA (4 mg/kg, including benserazide 15 mg/kg) -induced dyskinetic behavior on striatal basal extracellular glutamate concentration and potassium-evoked glutamate release in urethane-anes...
<context> Further clinical implications are described (capability of learning the therapeutic strategies, deliverability in broader clinical settings, acceptability by patients, combination with atypical neuroleptic drugs,and treatment of choice in risk populations). Intervention strategies are a multimodal psycholog...
<context> As determined by the new dissociation constants, antipsychotic drugs which elicit Parkinsonism (trifluperazine, chlorpromazine, raclopride, haloperidol, fluphenazine, risperidone) bind more tightly than dopamine to D2, while those antipsychotic drugs which elicit little or no Parkinsonism (melperone, seroqu...
<context> The current article presents a concise review of network theory and its application to the characterization of AED use in children with refractory epilepsy. Furthermore, first generation AEDs were often discontinued, while lacosamide and topiramate were most likely to be initiated. Overall, there is compel...
<context> The short-lived annual fish Nothobranchius furzeri shows extremely short captive life span and accelerated expression of age markers, making it an interesting model system to investigate the effects of experimental manipulations on longevity and age-related pathologies. Owing to large differences in aging p...
<context> The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. The Apert...
<context> Muenke syndrome is an autosomal dominant craniosynostosis syndrome resulting from a defining point mutation in the Fibroblast Growth Factor Receptor3 (FGFR3) gene. The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Al...
<context> Mean weight increased by 0.54 kg, and mean body mass index by 0.24 kg/m(2). A large-scale trial comparing a first-generation antipsychotic (molindone) with newer agents did not find significant differences in treatment response, although the newer antipsychotics were associated with more severe weight gain...
<context> CONCLUSIONS: Several gene-based urinary biomarkers have demonstrated promise in initial studies, which now need to be rigorously validated in the clinical setting for them to be translated into clinically useful tests in diagnosis, surveillance or risk-stratification of bladder cancer Novel promising marke...
<context> Several immunodeficiencies have been treated successfully by stem cell-targeted, retroviral-mediated gene transfer with reconstitution of the immune system following infusion of the transduced cells. In this work we have developed and tested a self-inactivating (SIN) gammaretroviral vector (SINfes.gp91s) co...
<context> In addition to nuclei, investigators have variously injected peptides, antibodies, biologically active chemicals, lineage markers, mRNA, DNA, morpholinos, and enzymes. We established a high-efficiency nuclear transformation method for the diatom Phaeodactylum tricornutum using an electroporation system. Ba...
<context> Transcription activator-like effector nuclease (TALEN) and zinc finger nuclease (ZFN) DNA editing technology enables site-directed engineering of the genome We used this opportunity to evaluate the effect of total donor homology on transcription activator-like effector nuclease (TALEN) mediated bi-allelic m...
<context> Compared with the EF1α and the WASp promoters, expression from the MND promoter in mouse transplant recipients was much higher in all lineages examined Analysis of WAS protein expression in transduced human EBV-immortalized B-cells and transduced patient peripheral blood mononuclear cells also demonstrated ...
<context> Here we show that most methylation alterations in colon cancer occur not in promoters, and also not in CpG islands, but in sequences up to 2 kb distant, which we term 'CpG island shores'. Here, we find substantial hypermethylation and hypomethylation of cytosine-phosphate-guanine (CpG) island shores in ni...
<context> on human non-small cell lung cancer cell lines, A549, NCI-H460 and NCI-H520. NCI-H520 and NCI-H596 lung cancer cells. </context> <question> From which tissue was the NCI-H520 cell-line derived? </question> <answer> Lung </answer>
<context> Hutchinson-Gilford progeria syndrome is a syndrome that involves premature aging, leading usually to death at the age between 10 to 14 years predominatly due to a myocardial infarction or a stroke The genetic basis in most cases is a mutation at the nucleotide position 1824 of the lamin A gene At this posit...
<context> The decision to treat elderly people is still an unresolved clinical challenge--first, due to a lack of appropriately powered randomized controlled trials of L-T4 in sHT patients, examining cardiovascular hard endpoints in various classes of age; and second, because of the negative effects of possible overt...
<context> Members of the protein kinase CK1 family usually phosphorylate residues of serine that are close to other phosphoserine in a consensus motif of pS-X-X-S, a novel consensus phosphorylation motif (K/R-X-K/R-X-X-S/T) for CK1 CK1 acts as a 'phosphate-directed' kinase whose targeting is primed by a single phosp...
<context> We report that low percentages of dimethylsulfoxide (DMSO) in liquid chromatography solvents lead to a strong enhancement of electrospray ionization of peptides, improving the sensitivity of protein identification in bottom-up proteomics by up to tenfold. Introducing to the 80% formic acid injection soluti...
<context> We detected a nonsense mutation in the gene encoding the transcription factor GFI1B (growth factor independent 1B) that causes autosomal dominant gray platelet syndrome. GFI1B, in addition to being causally related to the gray platelet syndrome, GPS has been linked to loss of function mutations in NEABL2 (...
<context> Clathrin-mediated endocytosis is a central and well-studied trafficking process in eukaryotic cells. We reported the first small molecule inhibitors of the interaction between the clathrin N-terminal domain (TD) and endocyctic accessory proteins (i.e., clathrin inhibition1). Tubulobulbar complexes are elabo...
<context> Despite the fact that bariatric surgery-induced weight loss is associated with a significant decrease in morbidity and mortality and improvement in renal function, bariatric surgery has recently been shown to be associated with a significant risk of nephrolithiasis. The main risk factor for nephrolithiasis ...
<context> Although these supplementations are increasingly used by master athletes, very few data are available on their effects on oxidative stress, muscle recovery, and physical performance. The potential benefits of supplement use in athletes are thus questionable. Some studies indicate no benefits, while others h...
<context> Knockout in Arabidopsis (Arabidopsis thaliana) leads to a significant growth rate deficit in both roots and shoots and lowered activity of specific mitochondrial enzymes associated with respiratory metabolism. loss of Lon1 significantly modifies respiratory function and plant performance by small but broad...
<context> we developed an approach to biochemically isolate the pseudopodium from the cell body using 3.0-micrometer porous filters for large-scale quantitative proteomic and phosphoproteomic analysis. Recent work using unique subcellular fractionation methodologies combined with spatial genomic, proteomic, and phosp...
<context> Remarkably, in mammalian somatic cells, H3S10P initiates in the pericentromeric heterochromatin during the late G2 phase, and phosphorylation spreads throughout the chromosomes arms in prophase, being maintained until the onset of anaphase when it gets dephosphorylated Based on these findings, we believe th...
<context> Unusual frequencies of certain alternating purine-pyrimidine runs in natural DNA sequences Octanucleotides are the most deficient, occurring at only 60% of the frequency expected in random sequences. An unexpectedly high proportion of these octamers consists of alternating tetramers with the repeat structur...
<context> Among the millions of discovered patterns, we found a subset of 127,998 patterns, termed pyknons, which have additional nonoverlapping instances in the untranslated and protein-coding regions of 30,675 transcripts from 20,059 human genes. a nonrandom pattern of repeated elements, called pyknons, which are f...
<context> In conclusion, while regular physical activity increases life expectancy, it remains unclear if high-intensity sports activities further increase life expectancy. Competitive exercise does not induce cardiac damage in individuals with healthy hearts, but does induce physiological functional and structural c...
<context> In this study we analyzed 15 sMTC for mutations in the hotspots codon 12, 13 and 61 of the H- and K-ras oncogene. mutation in the codon 12, 13 and 61 of the H-ras and K-ras oncogene the mutation hotspots of the K-ras proto-oncogene in human functional adrenocortical tumors are in codons 15, 16, 18, and 31 m...
<context> Combined longitudinal analysis of the 2 cohorts suggests further association of several loci with Larsen score (KIF5A, PTPN22, AFF3, TAGAP) and therefore a significant accumulation of RA severity markers among RA susceptibility markers (p = 0.016) A non-intronic marker at TNFAIP3, GIN1/C5orf30, STAT4, ANKRD...
<context> Thyroid hormones exert important effects on heart remodeling through mir-208. RV and RA function and mechanics are significantly affected by SHT. l-T4 therapy and 1-year maintenance of euthyroid status improved but did not completely recover RV and RA function and deformation in the SHT patients, which impl...
<context> enistein treatment could help reduce insulin resistance through the amelioration of OVX-induced metabolic dysfunction, and the GSEA approach may be useful in proposing putative targets related to insulin resistance. he positive effects of ACE inhibitor drugs, particularly on hypertriglyceridemia and insulin...
<context> In conclusion, resveratrol attenuated cardiac oxidative damage and left ventricular remodeling and enhanced the decreased expression of SIRT1 in hearts of old rats with emphysema and thus might be a therapeutic modality for cardiac injury complicated in chronic obstructive pulmonary disease (COPD). In concl...
<context> autosomal dominant mode of inheritance </context> <question> What is the mode of inheritance of Facioscapulohumeral muscular dystrophy (FSHD)? </question> <answer> autosomal dominant </answer>
<context> Two siblings died suddenly at the ages of 9 and 10 years Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a type of cardiac arrhythmia that occurs in people with a structurally normal heart. Stress or anxiety-induced release of endogenous catecholamines causes a dysfunction in the myocytic ca...
<context> mutations in the gene encoding for cardiac calsequestrin, CASQ2, cause a rare but severe form of catecholaminergic polymorphic ventricular tachycardia (CPVT) CPVT can be caused by mutations the cardiac ryanodine receptor gene (RYR2) or mutations in the cardiac calsequestrin gene CASQ2. To date, about 189 v...
<context> Their use is not currently allowed during pregnancy except in cases where the potential benefit to the mother justifies the potential risk to the fetus. No significant adverse effects or complications were observed during the pregnancies, and all three patients delivered healthy newborns. Biologics should...
<context> type I type II type III Pfeiffer syndrome is divided into three clinical subtypes Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outco...
<context> Our work describes, for the first time, distinct GATA-1 interactions with the essential hematopoietic factor Gfi-1b, the repressive MeCP1 complex, and the chromatin remodeling ACF/WCRF complex, in addition to the known GATA-1/FOG-1 and GATA-1/TAL-1 complexes. LMO2-C can bind endogenous GATA1 Ldb-1, a known ...
<context> Mutations in rfx6 were recently associated with Mitchell-Riley syndrome, which involves neonatal diabetes, and other digestive system defects. bi-allelic mutations in the transcription factor RFX6 were described as the cause of a rare condition characterized by neonatal diabetes with pancreatic and biliary...
<context> These studies are the first to establish VPA and its metabolites as in vitro activators of AMPK. </context> <question> Can valproic acid act as an activator of AMPK? </question> <answer> yes </answer>
<context> A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy We show that a mutation in TPM1 is associated with DCM and a lethal, early onset form of NCCM Mutation in MYH7B causes a classical LVNC phenotype We report on two prenatal ultrasound diagnoses of left ventricular no...
<context> Prevalence and long-term outcome of epilepsy in tuberous sclerosis complex (TSC) is reported to be variable Subependymal giant cell astrocytomas (SEGAs) are benign tumors, most commonly associated with tuberous sclerosis complex (TSC). Lymphangioleiomyomatosis (LAM) is a rare, progressive, frequently lethal...
<context> Neutrophil gelatinase-associated lipocalin (NGAL) is produced in the distal nephron and it is one of the most promising novel biomarkers for acute kidney injury (AKI) and chronic kidney disease (CKD). urinary neutrophil gelatinase-associated lipocalin (uNGAL- a chemiluminescent microparticle immunoassay (C...
<context> Mutations in human TRα1 mediate RTH with features of hypothyroidism in particular tissues (e.g. skeleton, gastrointestinal tract), but are not associated with a markedly dysregulated pituitary-thyroid axis. Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 recep...
<context> Hemizygous MCT8 mutations in males cause severe psychomotor retardation, known as the Allan-Herndon-Dudley syndrome (AHDS), and abnormal serum TH levels. AHDS thus represents a type of TH resistance caused by a defect in cellular TH transport. Novel mutation in MCT8 gene in a Brazilian boy with thyroid horm...
<context> Here, we describe a previously unknown population of parvalbuminergic neurons in the anterior hypothalamus that requires thyroid hormone receptor signaling for proper development. Specific stereotaxic ablation of these cells in the mouse resulted in hypertension and temperature-dependent tachycardia, indica...
<context> However, rs7140952 polymorphism is associated with components of metabolic syndrome including blood pressure and central obesity. Among euthyroid adults, the common Ala92 allele of the type 2 iodothyronine deiodinase increases risk for the development of hypertension. Ala92 type 2 deiodinase allele increas...
<context> One of the common mechanisms of multidrug resistance in eukaryotic cells is the active efflux of a broad range of xenobiotics through ATP-binding cassette (ABC) transporters. Overall, the phylogenetic diversity of As-resistant bacteria in underground water was very limited if compared with lentic and lotic...
<context> During T3-dependent amphibian metamorphosis, the digestive tract is extensively remodeled from the larval to the adult form for the adaptation of the amphibian from its aquatic herbivorous lifestyle to that of a terrestrial carnivorous frog. This involves de novo formation of ASCs that requires T3 signaling...
<context> We demonstrate that FBXL17 controls the transcription of the NRF2 target HMOX1 via turnover of the transcriptional repressor BACH1 in the absence or presence of extrinsic oxidative stress arallel SCF adaptor capture proteomics reveals a role for SCFFBXL17 in NRF2 activation via BACH1 repressor turnover TB a...
<context> The ability to differentiate between brain tumor progression and radiation therapy induced necrosis is critical for appropriate patient management. I Experimental results on public leukemia, prostate, and colon cancer datasets show that fuzzy support vector machine applied in combination with filter or wrap...
<context> KCNQ1 is associated with two different entities of LQTS, the autosomal-dominant Romano-Ward syndrome (RWS), and the autosomal-recessive Jervell and Lange-Nielsen syndrome (JLNS) characterized by bilateral deafness in addition to cardiac arrhythmias. The Romano Ward long QT syndrome (LQTS) has an autosomal d...
<context> Homozygous or compound heterozygous mutations in KCNQ1 cause Jervell and Lange-Nielsen syndrome, a rare, autosomal-recessive form of long-QT syndrome characterized by deafness, marked QT prolongation, and a high risk of sudden death. KCNQ1 is associated with two different entities of LQTS, the autosomal-dom...
<context> Long QT syndrome (LQTS) 1 is the most common type of inherited LQTS and is linked to mutations in the KCNQ1 gene. This report describes a three-generation family with a severe phenotype of long-QT syndrome-1 (LQTS-1) caused by a single nucleotide mutation in the KQT-like, voltage-gated potassium channel-1 ...
<context> Mutations of KCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1, cause Andersen-Tawil syndrome (ATS), a disease exhibiting ventricular arrhythmia, periodic paralysis, and dysmorphic features. Andersen cardiodysrhythmic periodic paralysis or Andersen-Tawil syndrome includes the dist...
<context> However, several issues in the processing and analysis of ChIP-chip data have not been resolved fully, including the effect of background (mock control) subtraction and normalization within and across arrays Proper normalization is essential for ChIP-chip experiments. The proposed normalization technique c...
<context> association study and gene expression analysis identifies CD84 as a predictor of response to etanercept therapy in rheumatoid arthritis The SNP is predicted to disrupt transcription factor binding site motifs in the 3' UTR of an immune-related gene, CD84, and the allele associated with better response to et...
<context> We show that Histone-like Nucleoid Structuring (H-NS) protein can facilitate correct recognition of a promoter by RNA polymerase in AT-rich gene regulatory regions One feature is a histone-like protein that is associated with the DNA, condensing it into subunits similar to those in eukaryotic chromatin Rece...
<context> different replication origins in some archaeal genomes leave quite different patterns of strand asymmetry, suggesting that different replication origins in the same genome may be differentially used In the process of identifying the minimum replication origin sequence required for autonomous plasmid replic...
<context> sHT in older people should be not regarded as a unique condition, and moderately old patients (aged <70-75 y) could be considered clinically similar to the adult population, albeit with a higher optimal TSH target value. Conversely, the oldest old subjects should be carefully followed with a wait-and-see st...
<context> Despite the fact that bariatric surgery-induced weight loss is associated with a significant decrease in morbidity and mortality and improvement in renal function, bariatric surgery has recently been shown to be associated with a significant risk of nephrolithiasis. The main risk factor for nephrolithiasis ...
<context> In all 13 intervals, cumulative observed survival was smaller than cumulative expected survival, resulting in cumulative RSRs being <1. This impaired survival experience of the internationals translates into a loss of median residual lifetime of 1.9 years [95% confidence interval: 0.6, 3.2] years at the en...