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https://www.readbyqxmd.com/read/28939533/comparative-mapping-of-on-targets-and-off-targets-for-the-discovery-of-anti-trypanosomatid-folate-pathway-inhibitors
#1
Joanna Panecka-Hofman, Ina Pöhner, Francesca Spyrakis, Talia Zeppelin, Flavio Di Pisa, Lucia Dello Iacono, Alessio Bonucci, Antonio Quotadamo, Alberto Venturelli, Stefano Mangani, Maria Paola Costi, Rebecca C Wade
BACKGROUND: Multi-target approaches are necessary to properly analyze or modify the function of a biochemical pathway or a protein family. An example of such a problem is the repurposing of the known human anti-cancer drugs, antifolates, as selective anti-parasitic agents. This requires considering a set of experimentally validated protein targets in the folate pathway of major pathogenic trypanosomatid parasites and humans: (i) the primary parasite on-targets: pteridine reductase 1 (PTR1) (absent in humans) and bifunctional dihydrofolate reductase-thymidylate synthase (DHFR-TS), (ii) the primary off-targets: human DHFR and TS, and (iii) the secondary on-target: human folate receptor β, a folate/antifolate transporter...
September 20, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28938739/sequence-variants-of-khdrbs1-as-high-penetrance-susceptibility-risks-for-primary-ovarian-insufficiency-by-mis-regulating-mrna-alternative-splicing
#2
Binbin Wang, Lin Li, Ying Zhu, Wei Zhang, Xi Wang, Beili Chen, Tengyan Li, Hong Pan, Jing Wang, Kehkooi Kee, Yunxia Cao
STUDY QUESTION: Does a novel heterozygous KHDRBS1 variant, identified using whole-exome sequencing (WES) in two patients with primary ovarian insufficiency (POI) in a pedigree, cause defects in mRNA alternative splicing? SUMMARY ANSWER: The heterozygous variant of KHDRBS1 was confirmed to cause defects in alternative splicing of many genes involved in DNA replication and repair. WHAT IS KNOWN ALREADY: Studies in mice revealed that Khdrbs1 deficient females are subfertile, which manifests as delayed sexual maturity and significantly reduced numbers of secondary and pre-antral follicles...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938721/the-draft-genome-sequence-of-a-desert-tree-populus-pruinosa
#3
Wenlu Yang, Kun Wang, Jian Zhang, Jianchao Ma, Jianquan Liu, Tao Ma
Populus pruinosa is a large tree that grows in deserts and shows distinct differences in both morphology and adaptation compared to its sister species, P. euphratica. Here we present a draft genome sequence for P. pruinosa and examine genomic variations between the 2 species. A total of 60 Gb of clean reads from whole-genome sequencing of a P. pruinosa individual were generated using the Illumina HiSeq2000 platform. The assembled genome is 479.3 Mb in length, with an N50 contig size of 14.0 kb and a scaffold size of 698...
September 1, 2017: GigaScience
https://www.readbyqxmd.com/read/28938637/the-loss-of-function-of-dna-methyltransferase-1-by-sirna-impairs-the-growth-of-non-small-cell-lung-cancer-with-alleviated-side-effects-via-reactivation-of-rassf1a-and-apc-in-vitro-and-vivo
#4
Qi Lai, Yin-Hui Xu, Qiang Chen, Liang Tang, An-Gui Li, Li-Fei Zhang, Chun-Fang Zhang, Jian-Fei Song, Zhen-Zong Du
Hypermethylation of tumor suppressor genes (TSGs) promoters by DNA methyltransferase (DNMT) can be observed in almost all cancers which represent a hallmark of carcinogenesis, including lung cancer. DNMT inhibitors (e.g.5-Aza-CR/CdR) reactivate TSGs to exert anti-cancer activity and have been applied into the clinical. However, it is cytotoxic even at low concentrations, which might be not directly related to DNA methylation. We here investigated an alternative strategy in the lung cancer therapy and aimed to estimate and compare its efficiency and side effects of knockdown of DNMT1 in vitro and in vivo...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938458/corticotroph-pituitary-carcinoma-in-a-patient-with-lynch-syndrome-ls-and-pituitary-tumors-in-a-nationwide-ls-cohort
#5
Daniel Bengtsson, Patrick Joost, Christos Aravidis, Marie Askmalm Stenmark, Ann-Sofie Backman, Beatrice Melin, Jenny von Salomé, Theofanis Zagoras, Samuel Gebre-Medhin, Pia Burman
Context: Lynch syndrome is a cancer predisposing syndrome caused by germline mutations in genes involved in DNA mismatch repair (MMR). Patients are at high risk for several types of cancer, but pituitary tumors have not previously been reported. Case: A 51-year old man with LS (MSH2 mutation) and a history of colon carcinoma presented with severe Cushing's disease and a locally aggressive pituitary tumor. The tumor harbored a mutation consistent with the patient's germline mutation, and displayed defect MMR function...
August 18, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938448/novel-autosomal-dominant-pth-gene-signal-sequence-mutation-in-a-family-with-familial-isolated-hypoparathyroidism
#6
Luigia Cinque, Angelo Sparaneo, Laura Penta, Amedea Mencarelli, Daniela Rogaia, Susanna Esposito, Federico Pio Fabrizio, Filomena Baorda, Alberto Verrotti, Alberto Falorni, Gabriela Stangoni, Geoffrey N Hendy, Vito Guarnieri, Paolo Prontera
Context: Familial isolated hypoparathyroidism (FIH) is a genetically heterogeneous disorder due to mutations of the calcium-sensing receptor (CASR), glial cells missing-2 (GCM2), guanine nucleotide binding protein alpha 11 (GNA11), or parathyroid hormone (PTH) genes. Thus far, only 4 cases with homozygous and 2 cases with heterozygous mutations in the PTH gene have been reported. Objective: To clinically describe an FIH family and identify and characterize the causal gene mutation...
August 18, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938441/canonical-wnt-signaling-regulates-the-pituitary-organizer-and-pituitary-gland-formation
#7
Allison M Osmundsen, Jessica L Keisler, M Mark Taketo, Shannon W Davis
The pituitary organizer is a domain within the ventral diencephalon that expresses Bmp4, Fgf8, and Fgf10, which induces the formation of the pituitary precursor, Rathke's pouch, from the oral ectoderm. The WNT signaling pathway regulates this pituitary organizer such that loss of Wnt5a leads to an expansion of the pituitary organizer and an enlargement of Rathke's pouch. WNT signaling is classified into canonical signaling, which is mediated by β-CATENIN, and non-canonical signaling, which operates independently of β-CATENIN...
August 16, 2017: Endocrinology
https://www.readbyqxmd.com/read/28938122/genome-regulation-by-polycomb-and-trithorax-70-years-and-counting
#8
REVIEW
Bernd Schuettengruber, Henri-Marc Bourbon, Luciano Di Croce, Giacomo Cavalli
Polycomb (PcG) and Trithorax (TrxG) group proteins are evolutionarily conserved chromatin-modifying factors originally identified as part of an epigenetic cellular memory system that maintains repressed or active gene expression states. Recently, they have been shown to globally control a plethora of cellular processes. This functional diversity is achieved by their ability to regulate chromatin at multiple levels, ranging from modifying local chromatin structure to orchestrating the three-dimensional organization of the genome...
September 21, 2017: Cell
https://www.readbyqxmd.com/read/28937965/artemin-promotes-oncogenicity-metastasis-and-drug-resistance-in-cancer-cells
#9
Kamal Hezam, Jiahao Jiang, Fumou Sun, Xinrong Zhang, Juan Zhang
Artemin (ARTN) is a member of glial cell line-derived neurotrophic factor (GDNF) family of ligands, and its signaling is mediated via a multi-component receptor complex including the glycosylphosphatidylinositol-anchored GDNF family receptors a (GFRa1, GFRa3) and RET receptor tyrosine kinase. The major mechanism of ARTN action is via binding to a non-signaling co-receptor. The major function of ARTN is to drive the molecule to induce migration and axonal projection from sympathetic neurons. It also promotes the survival, proliferation and neurite outgrowth of sympathetic neurons in vitro...
September 22, 2017: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/28937692/bdnf-at-the-synapse-why-location-matters
#10
M Song, K Martinowich, F S Lee
Neurotrophic factors, a family of secreted proteins that support the growth, survival and differentiation of neurons, have been intensively studied for decades due to the powerful and diverse effects on neuronal physiology, as well as their therapeutic potential. Such efforts have led to a detailed understanding on the molecular mechanisms of neurotrophic factor signaling. One member, brain-derived neurotrophic factor (BDNF) has drawn much attention due to its pleiotropic roles in the central nervous system and implications in various brain disorders...
October 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28937686/serine-392-phosphorylation-modulates-p53-mitochondrial-translocation-and-transcription-independent-apoptosis
#11
Cédric Castrogiovanni, Béranger Waterschoot, Olivier De Backer, Patrick Dumont
The tumor suppressor p53 is a key regulator of apoptosis induced by various cellular stresses. p53 can induce apoptosis by two mechanisms. First, p53 acts as a transcription factor inducing and repressing pro-apoptotic and anti-apoptotic targets genes, respectively. Second, p53 is able to translocate to the mitochondria, where it interacts with BCL-2 family members to induce membrane permeabilization and cytochrome c release. p53 transcriptional activity is regulated by a set of post-translational modifications that have been well documented...
September 22, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28937653/differential-functional-roles-of-aldh1a1-and-aldh1a3-in-mediating-metastatic-behavior-and-therapy-resistance-of-human-breast-cancer-cells
#12
Alysha K Croker, Mauricio Rodriguez-Torres, Ying Xia, Siddika Pardhan, Hon Sing Leong, John D Lewis, Alison L Allan
Previous studies indicate that breast cancer cells with high aldehyde dehydrogenase (ALDH) activity and CD44 expression (ALDH(hi)CD44⁺) contribute to metastasis and therapy resistance, and that ALDH1 correlates with poor outcome in breast cancer patients. The current study hypothesized that ALDH1 functionally contributes to breast cancer metastatic behavior and therapy resistance. Expression of ALDH1A1 or ALDH1A3 was knocked down in MDA-MB-468 and SUM159 human breast cancer cells using siRNA. Resulting impacts on ALDH activity (Aldefluor(®) assay); metastatic behavior and therapy response in vitro (proliferation/adhesion/migration/colony formation/chemotherapy and radiation) and extravasation/metastasis in vivo (chick choroiallantoic membrane assay) was assessed...
September 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28937611/hcg-biological-functions-and-clinical-applications
#13
REVIEW
Chinedu Nwabuobi, Sefa Arlier, Frederick Schatz, Ozlem Guzeloglu-Kayisli, Charles Joseph Lockwood, Umit Ali Kayisli
Human chorionic gonadotropin (hCG) is produced primarily by differentiated syncytiotrophoblasts, and represents a key embryonic signal that is essential for the maintenance of pregnancy. hCG can activate various signaling cascades including mothers against decapentaplegic homolog 2 (Smad2), protein kinase C (PKC), and/or protein kinase A (PKA) in several cells types by binding to luteinizing hormone/chorionic gonadotropin receptor (LHCGR) or potentially by direct/indirect interaction with transforming growth factor beta receptor (TGFβR)...
September 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28937344/deep-brain-stimulation-authenticity-and-value
#14
Sven Nyholm, Elizabeth O'Neill
In this article, we engage in dialogue with Jonathan Pugh, Hannah Maslen, and Julian Savulescu about how to best interpret the potential impacts of deep brain stimulation on the self. We consider whether ordinary peoples' convictions about the true self should be interpreted in essentialist or existentialist ways. Like Pugh, Maslen, and Savulescu, we argue that it is useful to understand the notion of the true self as having both essentialist and existentialist components. We also consider two ideas from existentialist philosophy-Jean-Paul Sartre and Simone de Beauvoir's ideas about "bad faith" and "ambiguity"-to argue that there can be value to patients in regarding themselves as having a certain amount of freedom to choose what aspects of themselves should be considered representative of their true selves...
October 2017: Cambridge Quarterly of Healthcare Ethics: CQ: the International Journal of Healthcare Ethics Committees
https://www.readbyqxmd.com/read/28937226/diblock-terpolymers-are-tunable-and-ph-responsive-vehicles-to-increase-hydrophobic-drug-solubility-for-oral-administration
#15
Swapnil Tale, Anatolii A Purchel, Molly C Dalsin, Theresa M Reineke
Synthetic polymers offer tunable platforms to create new oral drug delivery vehicles (excipients) to increase solubility, supersaturation maintenance, and bioavailability of poorly aqueous soluble pharmaceutical candidates. Five well-defined diblock terpolymers were synthesized via reversible addition-fragmentation chain transfer polymerization (RAFT) and consist of a first block of either poly(ethylene-alt-propylene) (PEP), poly(N-isopropylacrylamide) (PNIPAm), or poly(N,N-diethylaminoethyl methacrylate) (PDEAEMA) and a second hydrophilic block consisting of a gradient copolymer of N,N-dimethylacrylamide (DMA) and 2-methacrylamidotrehalose (MAT)...
September 22, 2017: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/28937064/nephrocalcinosis-among-children-at-king-hussein-medical-center-causes-and-outcome
#16
Jwaher T Al-Bderat, Reham I Mardinie, Ghazi M Salaita, Amer T Al-Bderat, Mahdi K Farrah
Nephrocalcinosis (NC) is defined as deposition of calcium crystals in the renal parenchyma and tubules. This is a retrospective review of all the data of 63 children presented to Pediatric Nephrology Clinic at King Hussein Medical Center (KHMC) over a 15-year period with bilateral NC. We determine their causes, clinical presentation and evaluate their growth and renal function during their follow-up. Thirty-five (55.5%) cases were males and 28 (44.5%) were females. The median (range) age at presentation was four (2-192) months...
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28936965/-important-role-of-interleukin-35-in-infectious-diseases-and-its-significance
#17
Renqi Yao, Yao Wu, Bing Ma
Infectious diseases are resulted from the invasion of an organism's body tissues by multiple disease-causing agents. It has been demonstrated that the occurrence and development of infectious diseases are closely associated with the functional status of immune system. Cytokines play significant roles in modulating the host immune response to the clearance of pathogenic microorganisms and maintaining immune homeostasis. Interleukin-35 (IL-35), as a newly identified member of IL-12 family, exerts suppressive effect on immune response by means of a specific pattern...
September 2017: Zhonghua Wei Zhong Bing Ji Jiu Yi Xue
https://www.readbyqxmd.com/read/28936815/-current-clinical-variables-in-schizophrenia-cases-with-suicide-attempt-history
#18
Demet Sağlam Aykut, Filiz Civil Arslan, Evrim Özkorumak Karagüzel, Serdar Karakullukçu, Ahmet Tiryaki
OBJECTIVE: High suicide risk was shown to be related with depression and low quality of life in studies investigating clinical variables related to suicidal behavior. The aim of this study was to investigate the effects of a suicide attempt on clinical presentation by comparing sociodemographic variables, clinical signs, symptoms of depression, quality of life, social functionality, and reported adverse drug reactions in schizophrenic patients with and without suicide. METHOD: Positive and Negative Syndrome Scale (PANSS), Calgary Depression Scale (CDS), Quality of Life Enjoyment and Satisfaction Questionnaire (Q-LES-Q), Social Functioning Scale (SFS), and Udvalg for Kliniske Undersøgelser Side Effect Rating Scale (UKU) were administered to 115 patients with schizophrenia...
2017: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/28936781/coordinate-expression-of-pan-neuronal-and-functional-signature-genes-in-sympathetic-neurons
#19
U Ernsberger, M Kramer, K Tsarovina, T Deller, H Rohrer
Neuron subtypes of the mature nervous system differ in the expression of characteristic marker genes while they share the expression of generic neuronal genes. The regulatory logic that maintains subtype-specific and pan-neuronal genes is not well understood. To begin to address this issue, we analyze RNA sequencing results from whole sympathetic ganglia and single sympathetic neurons in the mouse. We focus on gene products involved in the neuronal cytoskeleton, neurotransmitter synthesis and storage, transmitter release and reception and electrical information processing...
September 21, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28936587/metabolite-ratios-as-potential-biomarkers-for-type-2-diabetes-a-direct-study
#20
Sophie Molnos, Simone Wahl, Mark Haid, E Marelise W Eekhoff, René Pool, Anna Floegel, Joris Deelen, Daniela Much, Cornelia Prehn, Michaela Breier, Harmen H Draisma, Nienke van Leeuwen, Annemarie M C Simonis-Bik, Anna Jonsson, Gonneke Willemsen, Wolfgang Bernigau, Rui Wang-Sattler, Karsten Suhre, Annette Peters, Barbara Thorand, Christian Herder, Wolfgang Rathmann, Michael Roden, Christian Gieger, Mark H H Kramer, Diana van Heemst, Helle K Pedersen, Valborg Gudmundsdottir, Matthias B Schulze, Tobias Pischon, Eco J C de Geus, Heiner Boeing, Dorret I Boomsma, Anette G Ziegler, P Eline Slagboom, Sandra Hummel, Marian Beekman, Harald Grallert, Søren Brunak, Mark I McCarthy, Ramneek Gupta, Ewan R Pearson, Jerzy Adamski, Leen M 't Hart
AIMS/HYPOTHESIS: Circulating metabolites have been shown to reflect metabolic changes during the development of type 2 diabetes. In this study we examined the association of metabolite levels and pairwise metabolite ratios with insulin responses after glucose, glucagon-like peptide-1 (GLP-1) and arginine stimulation. We then investigated if the identified metabolite ratios were associated with measures of OGTT-derived beta cell function and with prevalent and incident type 2 diabetes...
September 21, 2017: Diabetologia
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