Genetic Evaluation of kids with congenital ocular anomalies in three ecological areas of Nepal
Next generation sequencing reveals a novel pathogenic variant in the ATMgene
Introduction: Ataxia telangiectasia (A-T) is a uncommon autosomal recessive multisystemic illness. Sufferers with the A-T syndrome current a broad spectrum of illness phenotypes. The ATM (ataxia telangiectasia mutated) gene, the one causative gene for A-T.
Methodology: A affected person of Persian origin presenting with typical A-T was referred to our genetics middle for specialised genetic counseling and testing. Focused next-generation sequencing (NGS) was utilized. Sanger sequencing was used to substantiate the candidate variant. Modeling was carried out utilizing the SWISS-MODEL server.Outcomes: A homozygous stop-gain variant c.829G > T (p.E277*) was discovered within the ATM gene. This variant was confirmed by Sanger sequencing and modeling of native construction and truncated construction was carried out.
Conclusion: Thus far, only a few pathogenic variants of the ATM gene have been reported from the Iranian inhabitants. The discovering has implications in molecular diagnostic for A-T in Iran.
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human EGF . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human EGF . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Eotaxin/CCL11 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human FGF-1 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human FGF-2 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human FGF-2 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human KGF/FGF-7 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human FGF-8 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human FGF-10 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human FGF-10 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Flt3 Ligand . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Fractalkine . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human G-CSF . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human G-CSF . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human GM-CSF . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human GM-CSF . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human GM-CSF . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IL-7 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IL-9 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IL-17A . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IL-17F . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IL-33 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human sRANK Ligand . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IFN gamma . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IFN gamma . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IGF-I . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Anti-Rat IGF-1 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IGF-II . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IL-2 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IL-3 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IL-7 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IL-8 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IL-21 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IP-10 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IP-10 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human CCR10 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human LIF . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human RANKL . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human ApoSAA . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human TGF-alpha . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human TGF-beta3 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human TNF-beta . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human TNF-R1 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human CX3CR1/RBS11 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human CXCR4 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human FGF-19 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human C3aR . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IL-19 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human BLC . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human CTGF . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IL-21R . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human sRANK Ligand Polyclonal . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human MIF . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human BMP-5 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human BMP-14 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human BMP-10 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Leptin Receptor . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human FGF-20 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IFN alpha 2b . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IFN alpha . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IFN alpha . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human HDAC8 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human TGF-beta Receptor I . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human VEGF-B . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human VEGF-D . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Galectin-7 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human TCR beta . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human PTHrP . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human RELM-beta . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human BMP-2 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human BMP-4 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human BMP-4 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human BMP-5 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human BMP-6 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IGF-BP5 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IL-12p40 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human TFF-2/Spasmolysin . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Wnt-1 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human MMP-3 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Endostatin . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human MART-1/Melan-A . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human HSP90 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human HSP70 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Placental Lactogen . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human GDF-9 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human JMJD6 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human USP1 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human USP2 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human USP25 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human UHRF2 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human BMI 1 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human EHMT2 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human RBBP4 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human SMARCA4 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human BRD4 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IL-10 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human BRD4 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human BRD4 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Heregulin-β2/Neuregulin-1 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Neuregulin/Heregulin-1β . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human PSGL-1 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human GHBP . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IL-1RA . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Wnt-2 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human TDRD4 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Procathepsin B . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human PEDF . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IFN-alpha 2a . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human FGF-4 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Granzyme A . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Cathepsin S . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human TDP2 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human CCL4 (Center). This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human CD-14 (CT). This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human CD-14 (NT). This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human CD-45 (CT). This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human ANGPT2 (CT). This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human ANGPTL1 (NT). This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human OCT4 (OCT3) . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human BMPR2 (NT). This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human VCAM-1/CD106 (Center). This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human TERT . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human CD34 (Center). This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human CD105/Endoglin (Center E395). This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human CD146/MCAM (CT). This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human CD73/NT5E (CT). This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human RARA polyclonal . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Runx1/AML1-ETO polyclonal . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human ETO polyclonal . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human EzH2 polyclonal . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human BRD2 polyclonal . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human JMJD2c polyclonal . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human BMI1 polyclonal . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human PD-1/PDCD1 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Cyclin E1 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Cyclin F . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Cyclin G1 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human CD1e . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human CD3d . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human CD4 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human CD9 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human CD58 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Plasmin . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human P-glycoprotein . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human TRAIL . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human PI3Kβ . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human PI3Kβ . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Survivin . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Survivin . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human PAK1 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human BCMA (TNFRSF17) . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human RbBP5 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human RbBP5 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human PAK1 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human MMP-9 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IL-13 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IL-13 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human IL-13 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human M-CSF . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human M-CSF . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human MIP-2 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human MIP-2 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human SCF . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human SCF . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human SCF . This antibody is tested and proven to work in the following applications:
Familial dilated cardiomyopathy brought on by a novel variant within the Lamin A/C gene: a case report
Background: Familial dilated cardiomyopathy (FDCM) is mostly inherited as an autosomal dominant trait. The Lamin A/C (LMNA) gene variants have been recognized to be related to DCM, conductive system problems, kind 2 Emery-Dreifuss muscular dystrophy and a number of other different problems. Right here, we reported a novel variant within the LMNA gene that is likely to be associated to FDCM.
Case presentation: A 30-year-old younger man was hospitalized for chest tightness, excessive fatigue, palpitation and impaired exercise tolerance. He had scientific traits together with cardiac dilatation, atrial tachyarrhythmia, extreme conductive system problems, and dyskinesia of each higher limbs and the neck. Genetic sequence evaluation indicated that the affected person carried a novel c.1325 T>C heterozygous LMNA gene variant. Catheter ablation and cardiac resynchronization remedy with pacing perform (CRT-P) have been carried out to deal with the arrhythmia.
Conclusion: The variant c.1325 T>C is a novel variant within the LMNA gene that has not been beforehand reported. Younger sufferers with DCM, conductive system problems and skeletal myopathy ought to be alert to the potential for LMNA gene variant. Cardiac resynchronization remedy (CRT) could also be an affordable selection for affected person carrying a LMNA gene variant with third-degree atrioventricular block even when the left ventricular ejection fraction is preserved with the intention to stop the deterioration of cardiac perform brought on by proper ventricular pacing dependency.
Genetic evaluation of kids with congenital ocular anomalies in three ecological areas of Nepal: a section II of Nepal pediatric ocular illnesses research
Background: Genetic eye illnesses represent a big and heterogeneous group of childhood ocular morbidity. Particular person illnesses could trigger a number of structural anomalies and developmental options. Nepal Pediatric Ocular Illness Research (NPODS) was a population-based epidemiological research carried out throughout three ecological areas of Nepal to find out the prevalence and etiology of childhood ocular morbidity and blindness. In Part II of this research, genetic evaluation was carried out for kids who have been discovered to have congenital ocular anomalies.
Methodology: It was a cross sectional descriptive research. A complete of 10,270 youngsters throughout three totally different ecological areas in Nepal (Low lands, hills, and mountains) underwent ocular examinations in NPODS. Out of 374 (3.6%) of kids with ocular abnormalities, 30 have been considered congenital in nature. Focused genetic evaluation, together with genotyping for genes particular to presenting phenotype, was carried out for 25 youngsters utilizing serum samples.
Outcomes: Out of 25 youngsters, 18 had significant genetic outcomes. Evaluation revealed one missense alteration G12411T of Zinc Finger Homeobox 4 (ZFHX4) gene in a single participant amongst 10 with congenital ptosis and one other missense variation T > C P. Y374 C of Signaling Receptor and Transporter Retinol 6 (STRA6) gene in a single participant amongst Three with microphthalmos.
Conclusion: The research is first of its sort from Nepal and mutant genes have been distinctive to Nepalese Inhabitants. Additional evaluation of genetic components is essential to higher perceive genetic affiliation with ocular illnesses and situations. This helps additional in genetic counseling and doubtless gene remedy to forestall blindness from these situations.
Doxorubicin Hydrochloride is used in a clinical setting for the treatment of a wide range of cancers, including lymphomas, leukemias, and solid tumors of the breast, pancreas, stomach, bladder, and ovaries. This drug intercalates into DNA and therefo
Description: The substance Doxorubicin Hydrochloride is a autophagy inducer. It is synthetically produced and has a purity of >98%. The pure substance is red solid which is soluble in water (50 mM)..
Doxorubicin Hydrochloride is used in a clinical setting for the treatment of a wide range of cancers, including lymphomas, leukemias, and solid tumors of the breast, pancreas, stomach, bladder, and ovaries. This drug intercalates into DNA and therefo
Description: The substance Doxorubicin Hydrochloride is a autophagy inducer. It is synthetically produced and has a purity of >98%. The pure substance is red solid which is soluble in water (50 mM)..
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.
Description: Doxorubicin is a semi-synthesized anticancer agent derived from bacterial culture. [1] It is an anthracycline antibiotic. It is been widely used in blood cancers, solid tumors and sarcomas.
Description: This ADC product is comprised of an anti-TNFRSF8 monoclonal antibody (cCA10) conjugated via a β-glucuronide linker to a doxorubicin propyloxazoline (DPO)
Human HeLa (Cervix Adenocarcinoma) Cell Nuclear Extract - Doxorubicin Stimulated
Description: Almorexant is an antagonist of Orexin 1 receptor (OX1R) and Orexin 2 receptor (OX2R) with Kd values of 1.3nM and 0.17nM, respectively [1].
Description: Almorexant is an antagonist of Orexin 1 receptor (OX1R) and Orexin 2 receptor (OX2R) with Kd values of 1.3nM and 0.17nM, respectively [1].
Description: Memantine hydrochloride is an antagonist of NMDA receptor with IC50 values of 0.93?M, 0.82?M and 0.47?M for NRIa/NR2A, NRIa/NR2B and NRIa/NR2D, respectively [1].
Description: Memantine hydrochloride is an antagonist of NMDA receptor with IC50 values of 0.93?M, 0.82?M and 0.47?M for NRIa/NR2A, NRIa/NR2B and NRIa/NR2D, respectively [1].
Description: Memantine hydrochloride is an antagonist of NMDA receptor with IC50 values of 0.93?M, 0.82?M and 0.47?M for NRIa/NR2A, NRIa/NR2B and NRIa/NR2D, respectively [1].
Description: Cyproheptadine hydrochloride is an antagonist of serotonin receptor [1]. Cyproheptadine is a serotonin and histamine antagonist as well as an antimuscarinic reagent.
Description: Cyproheptadine hydrochloride is an antagonist of serotonin receptor [1]. Cyproheptadine is a serotonin and histamine antagonist as well as an antimuscarinic reagent.
Description: Cyproheptadine hydrochloride is an antagonist of serotonin receptor [1]. Cyproheptadine is a serotonin and histamine antagonist as well as an antimuscarinic reagent.
Description: Moxonidine hydrochloride is a mixed agonist of ?2-adrenergic receptor (?2AR) and imidazoline-1 receptor(I1R) with Ki values of 4.2±3.2 nmol/L, 13.0±4.2 nmol/L.
Description: Moxonidine hydrochloride is a mixed agonist of ?2-adrenergic receptor (?2AR) and imidazoline-1 receptor(I1R) with Ki values of 4.2±3.2 nmol/L, 13.0±4.2 nmol/L.
Description: Moxonidine hydrochloride is a mixed agonist of ?2-adrenergic receptor (?2AR) and imidazoline-1 receptor(I1R) with Ki values of 4.2±3.2 nmol/L, 13.0±4.2 nmol/L.
Description: Bupropion hydrochloride is a dual effective inhibitor of norepinephrine and dopamine neurotransmitter with the IC50 values of 6.5 ± 0.6?M and 3.4 ± 0.4 ?M, respectively [1].
Description: Bupropion hydrochloride is a dual effective inhibitor of norepinephrine and dopamine neurotransmitter with the IC50 values of 6.5 ± 0.6?M and 3.4 ± 0.4 ?M, respectively [1].
Description: Bupropion hydrochloride is a dual effective inhibitor of norepinephrine and dopamine neurotransmitter with the IC50 values of 6.5 ± 0.6?M and 3.4 ± 0.4 ?M, respectively [1].
Description: Sotalol hydrochloride is a potent and non-selective antagonist of ?-adrenergic receptor. Sotalol is also an inhibitor of potassinm channels with the IC50 value of ~1.2mM in HEK cell lines [1].
Description: Sotalol hydrochloride is a potent and non-selective antagonist of ?-adrenergic receptor. Sotalol is also an inhibitor of potassinm channels with the IC50 value of ~1.2mM in HEK cell lines [1].
Description: Sotalol hydrochloride is a potent and non-selective antagonist of ?-adrenergic receptor. Sotalol is also an inhibitor of potassinm channels with the IC50 value of ~1.2mM in HEK cell lines [1].
Description: Sotalol hydrochloride is a potent and non-selective antagonist of ?-adrenergic receptor. Sotalol is also an inhibitor of potassinm channels with the IC50 value of ~1.2mM in HEK cell lines [1].
Description: Sotalol hydrochloride is a potent and non-selective antagonist of ?-adrenergic receptor. Sotalol is also an inhibitor of potassinm channels with the IC50 value of ~1.2mM in HEK cell lines [1].
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