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JOURNAL ARTICLE
Ana Töpf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bönnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan J Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here we show that predicted deleterious variants in SRPK3, encoding the X-linked serine/argenine protein kinase 3, lead to a progressive early onset skeletal muscle myopathy only when in combination with heterozygous variants in the TTN gene. The co-occurrence of predicted deleterious SRPK3/TTN variants was not seen among 76,702 healthy male individuals, and statistical modeling strongly supported digenic inheritance as the best-fitting model...
March 1, 2024: Nature Genetics
#2
JOURNAL ARTICLE
Tirta M Djajawi, Lizzy Pijpers, Akash Srivaths, David Chisanga, Kok Fei Chan, Simon J Hogg, Liam Neil, Sarahi Mendoza Rivera, Nenad Bartonicek, Sarah L Ellis, Terry C C Lim Kam Sian, Pouya Faridi, Yang Liao, Bhupinder Pal, Andreas Behren, Wei Shi, Stephin J Vervoort, Ricky W Johnstone, Conor J Kearney
Cancer immunotherapies have demonstrated remarkable success; however, the majority of patients do not respond or develop resistance. Here, we conduct epigenetic gene-targeted CRISPR-Cas9 screens to identify epigenomic factors that limit CD8+ T cell-mediated anti-tumor immunity. We identify that PRMT1 suppresses interferon gamma (Ifnγ)-induced MHC-I expression, thus dampening CD8+ T cell-mediated killing. Indeed, PRMT1 knockout or pharmacological targeting of type I PRMT with the clinical inhibitor GSK3368715 enhances Ifnγ-induced MHC-I expression through elevated STAT1 expression and activation, while re-introduction of PRMT1 in PRMT1-deficient cells reverses this effect...
February 23, 2024: Cell Reports
#3
JOURNAL ARTICLE
Indiraleka Muthiah, Karthikeyan Rajendran, Premnath Dhanaraj, Sugumari Vallinayagam
G Protein-Coupled Receptor gains more importance in cancer research; because of their key role in several physiologic functions of cells. However, most of the GPCR's are orphan receptors, this hampers the finding of drugs against GPCR. G Protein-Coupled Receptor 116 is an adhesion orphan receptor that intensifies the invasion of cells in Triple-Negative Breast Cancer. In this study, existing FDA approved anticancer drugs were chosen as ligands and molecular docking was performed using in silico protein model of GPR116...
June 25, 2020: Journal of Biomolecular Structure & Dynamics
#4
JOURNAL ARTICLE
Indiraleka Muthiah, Karthikeyan Rajendran, Premnath Dhanaraj, Sugumari Vallinayagam
BACKGROUND: Adhesion G Protein-Coupled Receptor 116 (GPR116) is an orphan receptor known for the function and variety of extracellular signalling, cell- cell adhesion, angiogenesis and cell migration. Many studies have shown that different GPCRs are over expressed in several cancers. GPR116 could be a pharmacologically important drug target for triple negative breast cancer (TNBC), because previous studies have found that the knockdown of GPR116 results in suppression of cell migration and invasion...
January 28, 2020: Current Computer-aided Drug Design
#5
JOURNAL ARTICLE
Sunita D Bansod, Manisha Bawaskar, Sudhir Shende, Aniket Gade, Mahendra Rai
Here, a rapid and easy transformation by electroporation technique for gene transfer in plants using cell penetrating amino nanocomplex (nanoplex) has been demonstrated in Nicotiana . Nanoplex was prepared using cell penetrating amino acids (CPAs) such as poly-L-lysine (PLL) and Argenine (Arg), in combination with the gold nanoparticles (AuNPs). PLLs-modified nanoplex with zeta potential of 34.2 ± 1.22 mV charge showed 63.3% efficiency for gene transformation in plant cells as compared to 60% when modified with Arg and the zeta potential was found to be 30...
August 2019: IET Nanobiotechnology
#6
RANDOMIZED CONTROLLED TRIAL
Anny H Xiang, Enrique Trigo, Mayra Martinez, Namir Katkhouda, Elizabeth Beale, Xinhui Wang, Jun Wu, Ting Chow, Cortney Montgomery, Krishna S Nayak, Fadi Hendee, Thomas A Buchanan
OBJECTIVE: Type 2 diabetes (T2D) results from progressive loss of β-cell function. The BetaFat study compared gastric banding and metformin for their impact on β-cell function in adults with moderate obesity and impaired glucose tolerance (IGT) or recently diagnosed, mild T2D. RESEARCH DESIGN AND METHODS: Eighty-eight people aged 21-65 years, BMI 30-40 kg/m2 , with IGT or diabetes known for <1 year, were randomized to gastric banding or metformin for 2 years...
December 2018: Diabetes Care
#7
JOURNAL ARTICLE
Rizwan Ali Zounr, Mumammad Yar Khuhawar, Taj Muhammad Jahangir, Malik Alamgir
An improved GC method in terms of sensitivity and decrease in the analysis time has been developed for the analysis of eight guanidino compounds: guanidine (G), methylguanidine (MG), creatinine (CTN), guanidinoacetic acid (GAA), guanidinobutyric acid (GBA), guanidinopropionic acid (GPA), argenine (Arg), and guanidinosuccinic acid (GSA), using isovaleroylacetone (IVA) and ethyl chloroformate (ECF) as derivatizing reagents. The separation was obtained from column HP-5 (30 m × 0.32 mm i.d.) with film thickness of 0...
2016: Analytical Sciences: the International Journal of the Japan Society for Analytical Chemistry
#8
JOURNAL ARTICLE
H Jonathan Groot, Joel D Trinity, Gwenael Layec, Matthew J Rossman, Stephen J Ives, David E Morgan, Amber Bledsoe, Russell S Richardson
The passive leg movement (PLM) model is a novel approach to assess vascular function. Increasing femoral perfusion pressure (FPP) by moving from the supine to the upright-seated posture augments the vasodilatory response to PLM in the young, with no effect in the old, but whether this augmented vasodilatation is nitric oxide (NO) dependent is unknown. Using an intra-arterial infusion of N(G) -monomethyl-L -arginine (L -NMMA) to inhibit nitric oxide synthase (NOS), the posture-induced increases in the PLM responses in the young were nearly ablated, with no effect of NOS inhibition in the old...
September 1, 2015: Journal of Physiology
#9
JOURNAL ARTICLE
Jiangtao Wang, Qingliu He, Xingyu Yan, Youmei Cai, Junyi Chen
BACKGROUND: Nitric oxide (NO) has been shown to be important in sperm function, and the concentration of NO appears to determine these effects. Studies have demonstrated both positive and negative effects of NO on sperm function, but have not been able to provide a clear link between NO concentration and the extent of exposure to NO. To study the relationship between nitric oxide and sperm capacitation in vitro, and to provide a theoretical basis for the use of NO-related preparations in improving sperm motility for in vitro fertilization, we investigated the effects of NO concentration and time duration at these concentrations on in vitro sperm capacitation in both normal and abnormal sperm groups...
September 18, 2014: Biological Research
#10
JOURNAL ARTICLE
K S Madathil, S S Karuppagounder, R Haobam, M Varghese, U Rajamma, K P Mohanakumar
Rotenone is known to cause progressive dopaminergic neuronal loss in rodents, but it remains unclear how this mitochondrial complex-I inhibitor mediates neurodegeneration specific to substantia nigra pars compacta (SNpc). One of the proposed mechanisms is increased free radical generation owing to mitochondrial electron transport chain dysfunction following complex-I inhibition. The present study examined the role of nitric oxide (NO) and hydroxyl radicals (OH) in mediating rotenone-induced dopaminergic neurotoxicity...
April 2013: Neurochemistry International
#11
JOURNAL ARTICLE
Andre Skale, Rene Tänzler, Lars Hendrich, Michael Balke
Carabdytes upin tindigessp. n. is described from the Arfak Mountains Bird's Head Indonesian Papua. It is morphologically very similar to Carabdytes upin upin Balke et al. 1992 known from eastern Indonesian Papua eastward to the western limits of the Papuan Peninsula of Papua New Guinea. For 726 bp at the 3' end of the mitochondrial cox1 gene the subspecies differ by 8.1-9.2% uncorrected p-distance. However we also document considerable cox1 divergence within Carabdytes upin upin. We find few diagnostic positions in the nuclear genes argenine kinase as well as elongation factor 1 alpha that suggest there are indeed two isolated groups of Carabdytes but evidence in elongation factor 1 alpha is not unambiguous...
2012: ZooKeys
#12
JOURNAL ARTICLE
Nicusor Iftimia, Arun K Iyer, Daniel X Hammer, Niyom Lue, Mircea Mujat, Martha Pitman, R Daniel Ferguson, Mansoor Amiji
A new concept for cancer screening has been preliminarily investigated. A cancer targeting agent loaded with a near-infrared (NIR) dye was topically applied on the tissue to highlight cancer-suspect locations and guide optical coherence tomography (OCT) imaging, which was used to further investigate tissue morphology at the micron scale. A pilot study on ApcMin mice has been performed to preliminarily test this new cancer screening approach. As a cancer-targeting agent, poly(epsilon-caprolactone) microparticles (PCLMPs), labeled with a NIR dye and functionalized with an RGD (argenine-glycine-aspartic acid) peptide, were used...
January 1, 2012: Biomedical Optics Express
#13
JOURNAL ARTICLE
Steinar Hustad, Simone Eussen, Øivind Midttun, Arve Ulvik, Puck M van de Kant, Lars Mørkrid, Randi Gislefoss, Per M Ueland
BACKGROUND: Biomarkers and metabolites related to B vitamin function and one-carbon metabolism have been studied as predictors of chronic diseases in studies based on samples stored in biobanks. For most biomarkers, stability data are lacking or fragmentary. METHODS: Degradation and accumulation kinetics of 32 biomarkers were determined at 23 °C in serum and plasma (EDTA, heparin, and citrate) collected from 16 individuals and stored for up to 8 days. In frozen serum (-25 °C), stability was studied cross-sectionally in 650 archival samples stored for up to 29 years...
February 2012: Clinical Chemistry
#14
JOURNAL ARTICLE
Korey M Leland, Thomas L McDonald, Kristen M Drescher
Despite the widespread availability and use of dietary supplements, minimal work has been performed to assess the potential dangers many of these supplements may have on the host's well-being, in particular the host's ability to respond to infection. One supplement extensively used by both adolescents and adults is creatine. Using Real-time PCR, we examined the impact of short-term exposure of a mouse macrophage cell line (RAW 264.7 cells) to two readily available forms of creatine used in supplements--creatine monohydrate (CR) and creatine ethyl ester (CEE) as well as the end product of creatine metabolism, creatinine (CRN), on expression of toll-like receptor-2 (TLR-2), TLR-3, TLR-4, and TLR-7...
September 2011: International Immunopharmacology
#15
JOURNAL ARTICLE
Richard W Smith, Jiaxi Wang, Carmel E Mothersill, Thomas G Hinton, Kouichi Aizawa, Colin B Seymour
The directly irradiated and bystander gill proteome was examined in wild-type and radiosensitive transgenic medaka. Direct irradiation increased the expression of annexin max 3, creatine kinase (CK), and lactate dehydrogenase (LDH) in both strains and reduced annexin A4 in wild-type medaka only. In bystander fish, same strain pairings increased CK and LDH in both strains and increased annexin max 3 and annexin A4 in radiosensitive medaka. Mixed strain pairings revealed that, in bystander fish, annexin max 3 was only increased by a bystander signal originating from a radiosensitive source, annexin A4 was increased in radiosensitive bystanders irrespective of the signal source, and CK and LDH were increased if either the bystander signal origin or the recipient bystander fish was radiosensitive...
February 2011: Biochimica et Biophysica Acta
#16
JOURNAL ARTICLE
Caroline Brorsson, Fariba Vaziri-Sani, Regine Bergholdt, Stefanie Eising, Anita Nilsson, Jannet Svensson, Åke Lernmark, Flemming Pociot
We hypothesised that the correlation between autoantibody specificity for the ZnT8 Arg325Trp isoforms and the type 2 diabetes-associated rs13266634 may affect β-cell function at type 1 diabetes (T1D) onset. To study this, we tested 482 newly diagnosed diabetic probands and 478 healthy siblings from the Danish population-based T1D registry for autoantibodies to ZnT8 (ZnT8A) in addition to GAD65 and IA-2. The prevalence and titres of autoantibodies were correlated with genotypes for rs13266634 and HLA-DQB1, age at diagnosis (AAD) and insulin dose-adjusted HbA1c (IDAA1c), as a proxy for residual β-cell function...
March 2011: Autoimmunity
#17
JOURNAL ARTICLE
G Service, B Woodside
Central suppression of nitric oxide (NO) production by administering 250 microg of Nitro-superw--subL-Argenine Methyl Ether (L-NAME), an inhibitor of NO synthase, into the 3rd ventricle disrupts both pup retrieval and maternal aggression in postpartum rats. In these studies, the authors examined the ability of varying doses of L-NAME to produce these effects on maternal behavior. Doses of L-NAME that were shown to be ineffective when injected into the 3rd ventricle were administered bilaterally into the medial preoptic area (MPOA) of rats on Day 4 postpartum...
February 2007: Behavioral Neuroscience
#18
JOURNAL ARTICLE
Juliana Hwang, Mahsa Rouhanizadeh, Ryan T Hamilton, Tiantian C Lin, Jason P Eiserich, Howard N Hodis, Tzung K Hsiai
Within arterial bifurcations or branching points, oscillatory shear stress (OSS) induces oxidative stress mainly via the reduced nicotinamide adenine dinucleodtide phosphate (NADPH) oxidase system. It is unknown whether 17beta-estradiol (E(2)) can regulate OSS-mediated low-density lipoprotein (LDL) modifications. Bovine aortic endothelial cells were pretreated with E(2) at 5 nmol/L, followed by exposure to OSS (0 +/- 3.0 dynes/cm(2) s and 60 cycles/min) in a flow system. E(2) decreased OSS-mediated NADPH oxidase mRNA expression, and E(2)-mediated (...
August 15, 2006: Free Radical Biology & Medicine
#19
RANDOMIZED CONTROLLED TRIAL
R Tölg, M Witt, B Schwarz, T Kurz, V Kurowski, F Hartmann, V Geist, G Richardt
BACKGROUND: The value of early therapy with beta-blocking agents in acute myocardial infarction (AMI) undergoing reperfusion is not yet well established. Newer beta-blocking agents such as carvedilol offer potential advantages in the setting of ischemia and reperfusion injury. METHODS: We randomized 100 patients with acute ST-elevation myocardial infarction (STEMI) to receive either 12.5 mg carvedilol or 50 mg metoprolol tartrate orally already before percutaneous coronary intervention (PCI) of the infarct-related artery, uptitrating to a daily target dose of 50 mg carvedilol or 150 mg metoprolol during the first week...
January 2006: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
#20
JOURNAL ARTICLE
Zahra Fatehi-Hassanabad, Mohsen Imen-Shahidi, Mohammad Fatehi, Khadijeh Farrokhfall, Heidar Parsaeei
Diabetes mellitus is associated with an increased risk of cardiovascular disease. Endothelial dysfunction (i.e. decreased endothelium-dependent vasorelaxation) plays a key role in the pathogenesis of diabetic vascular disease. The present study was undertaken to determine whether diabetes induced by streptozotocin alters mesenteric responses to vasodilators and, if so, to study the acute in vitro effects of lovastatin and chelerythrine. Endothelial function was assessed in constantly perfused preparation removed from rats, 12 weeks after treatment with either saline or streptozotocin (45 mg/kg, intraperitoneally)...
March 27, 2006: European Journal of Pharmacology
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