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Intermediate phenotypes

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https://www.readbyqxmd.com/read/28919968/a-new-species-of-melitaea-from-israel-with-notes-on-taxonomy-cytogenetics-phylogeography-and-interspecific-hybridization-in-the-melitaea-persea-complex-lepidoptera-nymphalidae
#1
Vladimir A Lukhtanov
Specimens with intermediate morphology are often considered to be the result of ongoing interspecific hybridization; however, this conclusion is difficult to prove without analysis of chromosomal and/or molecular markers. In the butterfly genus Melitaea, such an intermediacy can be detected in male genitalia, and is more or less regularly observed in localities where two closely related, presumably parental species are found in sympatry. Here I analyze a high altitude Melitaea population from Mt. Hermon in north Israel and show that its male genitalia are clearly differentiated from those found in phenotypically similar M...
2017: Comparative Cytogenetics
https://www.readbyqxmd.com/read/28919188/-contribution-of-multimodal-imaging-in-the-various-stages-of-stargardt-disease
#2
L El Matri, Y Falfoul, M Kortli, A Hassairi, H Charfi, A Turki, F Kort, A Chebil
PURPOSE: To describe the contribution of multimodal imaging in the various stages of Stargardt disease (STGD). PATIENTS AND METHODS: We retrospectively reviewed 46 eyes of 23 STGD patients with identified ABCA4 mutations. All patients underwent a complete ophthalmic examination, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF), fluorescein angiography (FA) and Indocyanine green angiography (ICGA). RESULTS: The mean age of patients was 25...
September 14, 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/28917968/the-effect-of-fennel-essential-oil-in-combination-with-antibiotics-on-staphylococcus-aureus-strains-isolated-from-carriers
#3
Paweł Kwiatkowski, Magdalena Mnichowska-Polanowska, Agata Pruss, Helena Masiuk, Małgorzata Dzięcioł, Stefania Giedrys-Kalemba, Monika Sienkiewicz
An increase in the number of staphylococcal infections and carriers among medical staff has forced us to seek more and more effective antibacterial agents. Bacteria from the Staphylococcus genus possessing different mechanisms of resistance are the cause of nosocomial infections. The objective of our investigations was susceptibility of S. aureus strains isolated from nasal vestibule of medical students to fennel essential oil. The GC-MS analysis of fennel essential oil revealed eleven constituents among which a majority of trans-anethole (80%) was found...
September 13, 2017: Burns: Journal of the International Society for Burn Injuries
https://www.readbyqxmd.com/read/28916646/serac1-deficiency-causes-complicated-hsp-evidence-from-a-novel-splice-mutation-in-a-large-family
#4
Benjamin Roeben, Rebecca Schüle, Susanne Ruf, Benjamin Bender, Bader Alhaddad, Tanja Benkert, Thomas Meitinger, Selina Reich, Judith Böhringer, Claus-Dieter Langhans, Frédéric M Vaz, Saskia B Wortmann-Hagemann, Thorsten Marquardt, Tobias B Haack, Ingeborg Krägeloh-Mann, Ludger Schöls, Matthis Synofzik
OBJECTIVE: To demonstrate that mutations in the phosphatidylglycerol remodelling enzyme SERAC1 can cause juvenile-onset complicated hereditary spastic paraplegia (cHSP) clusters, thus adding SERAC1 to the increasing number of complex lipid cHSP genes. METHODS: Combined genomic and functional validation studies (whole-exome sequencing, mRNA, cDNA and protein), biomarker investigations (3-methyl-glutaconic acid, filipin staining and phosphatidylglycerols PG34:1/PG36:1), and clinical and imaging phenotyping were performed in six affected subjects from two different branches of a large consanguineous family...
September 15, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28915803/tartrate-resistant-acid-phosphatase-trap-acp5-promotes-metastasis-related-properties-via-tgf%C3%AE-2-t%C3%AE-r-and-cd44-in-mda-mb-231-breast-cancer-cells
#5
Anja Reithmeier, Elena Panizza, Michael Krumpel, Lukas M Orre, Rui M M Branca, Janne Lehtiö, Barbro Ek-Rylander, Göran Andersson
BACKGROUND: Tartrate-resistant acid phosphatase (TRAP/ACP5), a metalloenzyme that is characteristic for its expression in activated osteoclasts and in macrophages, has recently gained considerable focus as a driver of metastasis and was associated with clinically relevant parameters of cancer progression and cancer aggressiveness. METHODS: MDA-MB-231 breast cancer cells with different TRAP expression levels (overexpression and knockdown) were generated and characterized for protein expression and activity levels...
September 15, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28914734/revisiting-the-concept-of-amyotrophic-lateral-sclerosis-as-a-multisystems-disorder-of-limited-phenotypic-expression
#6
Michael J Strong
PURPOSE OF REVIEW: The current review will examine the contemporary evidence that amyotrophic lateral sclerosis (ALS) is a syndrome in which the unifying feature is a progressive loss of upper and lower motor neuron function. RECENT FINDINGS: Although ALS is traditionally viewed as a neurodegenerative disorder affecting the motor neurons, there is considerable phenotypic heterogeneity and widespread involvement of the central nervous system. A broad range of both causative and disease modifying genetic variants are associated with both sporadic and familial forms of ALS...
September 13, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28913408/hepatocyte-specific-deletion-of-mouse-lamin-a-c-leads-to-male-selective-steatohepatitis
#7
Raymond Kwan, Graham F Brady, Maria Brzozowski, Sujith V Weerasinghe, Hope Martin, Min-Jung Park, Makayla J Brunt, Ram K Menon, Xin Tong, Lei Yin, Colin L Stewart, M Bishr Omary
BACKGROUND & AIMS: Lamins are nuclear intermediate filament proteins that comprise the major components of the nuclear lamina. Mutations in LMNA, which encodes lamins A/C, cause laminopathies, including lipodystrophy, cardiomyopathy, and premature aging syndromes. However, the role of lamins in the liver is unknown, and it is unclear whether laminopathy-associated liver disease is caused by primary hepatocyte defects or systemic alterations. METHODS: To address these questions, we generated mice carrying a hepatocyte-specific deletion of Lmna (knockout [KO] mice) and characterized the KO liver and primary hepatocyte phenotypes by immunoblotting, immunohistochemistry, microarray analysis, quantitative real-time polymerase chain reaction, and Oil Red O and Picrosirius red staining...
November 2017: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28912775/shared-and-distinct-phenotypes-and-functions-of-human-cd161-v%C3%AE-7-2-t-cell-subsets
#8
Ayako Kurioka, Aminu S Jahun, Rachel F Hannaway, Lucy J Walker, Joannah R Fergusson, Eva Sverremark-Ekström, Alexandra J Corbett, James E Ussher, Christian B Willberg, Paul Klenerman
Human mucosal-associated invariant T (MAIT) cells are an important T cell subset that are enriched in tissues and possess potent effector functions. Typically such cells are marked by their expression of Vα7.2-Jα33/Jα20/Jα12 T cell receptors, and functionally they are major histocompatibility complex class I-related protein 1 (MR1)-restricted, responding to bacterially derived riboflavin synthesis intermediates. MAIT cells are contained within the CD161++ Vα7.2+ T cell population, the majority of which express the CD8 receptor (CD8+), while a smaller fraction expresses neither CD8 or CD4 coreceptor (double negative; DN) and a further minority are CD4+...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28911354/drug-resistance-patterns-among-extra-pulmonary-tuberculosis-cases-in-a-tertiary-care-centre-in-north-india
#9
S K Sharma, J Chaubey, B K Singh, R Sharma, A Mittal, A Sharma
BACKGROUND: xtra-pulmonary tuberculosis (EPTB) is a growing public health concern, and data on drug resistance are limited. MATERIAL AND METHODS: Specimens from 2468 clinically diagnosed EPTB patients received at the Intermediate Reference Laboratory (IRL) of a tertiary centre in India were subjected to Ziehl-Neelsen staining, Xpert® MTB/RIF testing, liquid culture and drug susceptibility testing (DST) using automated BACTEC MGIT™ 960™. Line-probe assay (LPA) was performed on all culture-positive isolates...
October 1, 2017: International Journal of Tuberculosis and Lung Disease
https://www.readbyqxmd.com/read/28910856/high-throughput-screening-of-hect-e3-ubiquitin-ligases-using-ubfluor
#10
Peter K Foote, David T Krist, Alexander V Statsyuk
HECT E3 ubiquitin ligases are responsible for many human disease phenotypes and are promising drug targets; however, screening assays for HECT E3 inhibitors are inherently complex, requiring upstream E1 and E2 enzymes as well as ubiquitin, ATP, and detection reagents. Intermediate ubiquitin thioesters and a complex mixture of polyubiquitin products provide further opportunities for off-target inhibition and increase the complexity of the assay. UbFluor is a novel ubiquitin thioester that bypasses the E1 and E2 enzymes and undergoes direct transthiolation with HECT E3 ligases...
September 14, 2017: Current Protocols in Chemical Biology
https://www.readbyqxmd.com/read/28902679/brief-report-peripheral-monocyte-macrophage-phenotypes-associated-with-the-evolution-of-cognitive-performance-in-hiv-infected-patients
#11
Massimiliano Fabbiani, Antonio Muscatello, Paolo Perseghin, Marco Bani, Arianna Incontri, Nicola Squillace, Giuseppe Lapadula, Andrea Gori, Alessandra Bandera
BACKGROUND: The contribution of monocyte activation in the development of HIV-associated neurocognitive disorders is not completely understood. This study aimed to explore the predictive value of peripheral monocyte/macrophage (M/M) phenotypes on the evolution of cognitive performance in a population of virologically suppressed HIV-infected patients. SETTING: Prospective, observational, longitudinal study. METHODS: HIV-1-infected patients with HIV-RNA <50copies/mL for >12 months underwent neuropsychological examination at baseline and after 1 year...
October 1, 2017: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/28894945/a-tabersonine-3-reductase-catharanthus-roseus-mutant-accumulates-vindoline-pathway-intermediates
#12
Alison Edge, Yang Qu, Michael L A E Easson, Antje M K Thamm, Kyung Hee Kim, Vincenzo De Luca
Monoterpenoid indole alkaloids (MIAs) have remarkable biological properties that have led to their medical uses for a variety of human diseases. Mutagenesis has been used to generate plants with new alkaloid profiles and a useful screen for rapid comparison of MIA profiles is described. The MIA mutants identified are useful for investigating MIA biosynthesis and for targeted production of these specialised metabolites. The Madagascar periwinkle (Catharanthus roseus) is the sole source of the dimeric anticancer monoterpenoid indole alkaloids (MIAs), 3',4'-anhydrovinblastine and derivatives, which are formed via the coupling of the MIAs, catharanthine and vindoline...
September 11, 2017: Planta
https://www.readbyqxmd.com/read/28894449/type-i-interferon-induced-by-streptococcus-suis-serotype-2-is-strain-dependent-and-may-be-beneficial-for-host-survival
#13
Jean-Philippe Auger, Agustina Santinón, David Roy, Karen Mossman, Jianguo Xu, Mariela Segura, Marcelo Gottschalk
Streptococcus suis serotype 2 is an important porcine bacterial pathogen and emerging zoonotic agent mainly responsible for sudden death, septic shock, and meningitis, with exacerbated inflammation being a hallmark of the infection. However, serotype 2 strains are genotypically and phenotypically heterogeneous, being composed of a multitude of sequence types (STs) whose virulence greatly varies: the virulent ST1 (Eurasia), highly virulent ST7 (responsible for the human outbreaks in China), and intermediate virulent ST25 (North America) are the most important worldwide...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28892492/hif-1%C3%AE-is-a-key-regulator-in-potentiating-suppressor-activity-and-limiting-the-microbicidal-capacity-of-mdsc-like-cells-during-visceral-leishmaniasis
#14
Akil Hammami, Belma Melda Abidin, Tania Charpentier, Aymeric Fabié, Annie-Pier Duguay, Krista M Heinonen, Simona Stäger
Leishmania donovani is known to induce myelopoiesis and to dramatically increase extramedullary myelopoiesis. This results in splenomegaly, which is then accompanied by disruption of the splenic microarchitecture, a chronic inflammatory environment, and immunosuppression. Chronically inflamed tissues are typically hypoxic. The role of hypoxia on myeloid cell functions during visceral leishmaniasis has not yet been studied. Here we show that L. donovani promotes the output from the bone marrow of monocytes with a regulatory phenotype that function as safe targets for the parasite...
September 11, 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28890870/treg-th17-cell-balance-and-phytohaemagglutinin-activation-of-t-lymphocytes-in-peripheral-blood-of-systemic-sclerosis-patients
#15
Ekaterina Krasimirova, Tsvetelina Velikova, Ekaterina Ivanova-Todorova, Kalina Tumangelova-Yuzeir, Desislava Kalinova, Vladimira Boyadzhieva, Nikolay Stoilov, Tsvetelina Yoneva, Rasho Rashkov, Dobroslav Kyurkchiev
AIM: To investigate T-cell activation, the percentage of peripheral T regulatory cells (Tregs), Th17 cells and the circulating cytokine profile in systemic sclerosis (SSc). METHODS: We enrolled a total of 24 SSc patients and 16 healthy controls in the study and divided the patients as having diffuse cutaneous SSc (dcSSc, n = 13) or limited cutaneous SSc (lcSSc, n = 11). We performed a further subdivision of the patients regarding the stage of the disease - early, intermediate or late...
August 20, 2017: World Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28880872/microtubule-actin-crosslinking-factor-1-macf1-domain-function-in-balbiani-body-dissociation-and-nuclear-positioning
#16
Matias Escobar-Aguirre, Hong Zhang, Allison Jamieson-Lucy, Mary C Mullins
Animal-vegetal (AV) polarity of most vertebrate eggs is established during early oogenesis through the formation and disassembly of the Balbiani Body (Bb). The Bb is a structure conserved from insects to humans that appears as a large granule, similar to a mRNP granule composed of mRNA and proteins, that in addition contains mitochondria, ER and Golgi. The components of the Bb, which have amyloid-like properties, include germ cell and axis determinants of the embryo that are anchored to the vegetal cortex upon Bb disassembly...
September 7, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28878791/characterization-and-mapping-of-leaf-rust-and-stripe-rust-resistance-loci-in-hexaploid-wheat-lines-uc1110-and-pi610750-under-mexican-environments
#17
Caixia Lan, Iago L Hale, Sybil A Herrera-Foessel, Bhoja R Basnet, Mandeep S Randhawa, Julio Huerta-Espino, Jorge Dubcovsky, Ravi P Singh
Growing resistant wheat varieties is a key method of minimizing the extent of yield losses caused by the globally important wheat leaf rust (LR) and stripe rust (YR) diseases. In this study, a population of 186 F8 recombinant inbred lines (RILs) derived from a cross between a synthetic wheat derivative (PI610750) and an adapted common wheat line (cv. "UC1110") were phenotyped for LR and YR response at both seedling and adult plant stages over multiple seasons. Using a genetic linkage map consisting of single sequence repeats and diversity arrays technology markers, in combination with inclusive composite interval mapping analysis, we detected a new LR adult plant resistance (APR) locus, QLr...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28872638/modulation-of-defensive-reactivity-by-glrb-allelic-variation-converging-evidence-from-an-intermediate-phenotype-approach
#18
U Lueken, M Kuhn, Y Yang, B Straube, T Kircher, H-U Wittchen, B Pfleiderer, V Arolt, A Wittmann, A Ströhle, H Weber, A Reif, K Domschke, J Deckert, T B Lonsdorf
Representing a phylogenetically old and very basic mechanism of inhibitory neurotransmission, glycine receptors have been implicated in the modulation of behavioral components underlying defensive responding toward threat. As one of the first findings being confirmed by genome-wide association studies for the phenotype of panic disorder and agoraphobia, allelic variation in a gene coding for the glycine receptor beta subunit (GLRB) has recently been associated with increased neural fear network activation and enhanced acoustic startle reflexes...
September 5, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28871103/lipidomic-dysregulation-within-the-lung-parenchyma-following-whole-thorax-lung-irradiation-markers-of-injury-inflammation-and-fibrosis-detected-by-maldi-msi
#19
Claire L Carter, Jace W Jones, Ann M Farese, Thomas J MacVittie, Maureen A Kane
Radiation-induced lung injury (RILI) is a delayed effect of acute radiation exposure that can limit curative cancer treatment therapies and cause lethality following high-dose whole-thorax lung irradiation (WTLI). To date, the exact mechanisms of injury development following insult remain ill-defined and there are no FDA approved pharmaceutical agents or medical countermeasures. Traditionally, RILI development is considered as three phases, the clinically latent period, the intermediate acute pneumonitis phase and the later fibrotic stage...
September 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28868093/on-the-cellular-and-molecular-mechanisms-of-drug-induced-gingival-overgrowth
#20
Albert Ramírez-Rámiz, Lluís Brunet-LLobet, Eduard Lahor-Soler, Jaume Miranda-Rius
INTRODUCTION: Gingival overgrowth has been linked to multiple factors such as adverse drug effects, inflammation, neoplastic processes, and hereditary gingival fibromatosis. Drug-induced gingival overgrowth is a well-established adverse event. In early stages, this gingival enlargement is usually located in the area of the interdental papilla. Histologically, there is an increase in the different components of the extracellular matrix. OBJECTIVE: The aim of this manuscript is to describe and analyze the different cellular and molecular agents involved in the pathogenesis of Drug-induced gingival overgrowth...
2017: Open Dentistry Journal
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