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https://www.readbyqxmd.com/read/28448522/nestin-expression-is-upregulated-in-the-fibrotic-rat-heart-and-is-localized-in-collagen-expressing-mesenchymal-cells-and-interstitial-cd31-cells
#1
Vanessa Hertig, Kim Tardif, Marc Andre Meus, Natacha Duquette, Louis Villeneuve, Fanny Toussaint, Jonathan Ledoux, Angelino Calderone
Renal and lung fibrosis was characterized by the accumulation of collagen-immunoreactive mesenchymal cells expressing the intermediate filament protein nestin. The present study tested the hypothesis that nestin expression was increased in the hypertrophied/fibrotic left ventricle of suprarenal abdominal aorta constricted adult male Sprague-Dawley rats and induced in ventricular fibroblasts by pro-fibrotic peptide growth factors. Nestin protein levels were upregulated in the pressure-overloaded left ventricle and expression positively correlated with the rise of mean arterial pressure...
2017: PloS One
https://www.readbyqxmd.com/read/28446370/microcarrier-culture-enhances-osteogenic-potential-of-human-periodontal-ligament-stromal-cells
#2
Alina Čebatariūnienė, Akvilė Jarmalavičiūtė, Virginijus Tunaitis, Alina Pūrienė, Algirdas Venalis, Augustas Pivoriūnas
Regeneration of periodontal tissue represents a major challenge to modern tissue engineering, since cell-based therapies require large amounts of periodontal ligament stromal cells (PLSC), which can be obtained only by in vitro expansion. Ideally, the period of the in vitro expansion should be optimized for the generation of large enough numbers of pre-specified progenitor cells ready to contribute to the restoration of periodontal tissues. In the present study, we used a commercially available, three-dimensional culturing platform and alginate microcarrier cell culture system for the propagation of human PLSCs, which were derived using the explant outgrowth method...
March 29, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28445521/next-generation-sequencing-to-dissect-the-genetic-architecture-of-kng1-and-f11-loci-using-factor-xi-levels-as-an-intermediate-phenotype-of-thrombosis
#3
Laura Martin-Fernandez, Giovana Gavidia-Bovadilla, Irene Corrales, Helena Brunel, Lorena Ramírez, Sonia López, Juan Carlos Souto, Francisco Vidal, José Manuel Soria
Venous thromboembolism is a complex disease with a high heritability. There are significant associations among Factor XI (FXI) levels and SNPs in the KNG1 and F11 loci. Our aim was to identify the genetic variation of KNG1 and F11 that might account for the variability of FXI levels. The KNG1 and F11 loci were sequenced completely in 110 unrelated individuals from the GAIT-2 (Genetic Analysis of Idiopathic Thrombophilia 2) Project using Next Generation Sequencing on an Illumina MiSeq. The GAIT-2 Project is a study of 935 individuals in 35 extended Spanish families selected through a proband with idiopathic thrombophilia...
2017: PloS One
https://www.readbyqxmd.com/read/28445506/phenotype-function-and-differentiation-potential-of-human-monocyte-subsets
#4
Lisa B Boyette, Camila Macedo, Kevin Hadi, Beth D Elinoff, John T Walters, Bala Ramaswami, Geetha Chalasani, Juan M Taboas, Fadi G Lakkis, Diana M Metes
Human monocytes have been grouped into classical (CD14++CD16-), non-classical (CD14dimCD16++), and intermediate (CD14++CD16+) subsets. Documentation of normal function and variation in this complement of subtypes, particularly their differentiation potential to dendritic cells (DC) or macrophages, remains incomplete. We therefore phenotyped monocytes from peripheral blood of healthy subjects and performed functional studies on high-speed sorted subsets. Subset frequencies were found to be tightly controlled over time and across individuals...
2017: PloS One
https://www.readbyqxmd.com/read/28442211/leigh-like-neuroimaging-features-associated-with-new-biallelic-mutations-in-opa1
#5
Anna Rubegni, Tiziana Pisano, Giacomo Bacci, Alessandra Tessa, Roberta Battini, Elena Procopio, Sabrina Giglio, Rosa Pasquariello, Filippo Maria Santorelli, Renzo Guerrini, Claudia Nesti
Behr syndrome is characterized by the association of early onset optic atrophy, cerebellar ataxia, pyramidal signs, peripheral neuropathy and mental retardation. Recently, some cases were reported to be caused by biallelic mutations in OPA1. We describe an 11-year-old girl (Pt1) and a 7-year-old boy (Pt2) with cognitive delay, ataxic gait and clinical signs suggestive of a peripheral neuropathy, with onset in early infancy. In Pt1 ocular fundus examination revealed optic disk pallor whereas Pt2 exhibited severe optic atrophy...
April 15, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28441765/distinct-fiber-type-signature-in-mouse-muscles-expressing-a-mutant-lamin-a-responsible-for-congenital-muscular-dystrophy-in-a-patient
#6
Alice Barateau, Nathalie Vadrot, Onnik Agbulut, Patrick Vicart, Sabrina Batonnet-Pichon, Brigitte Buendia
Specific mutations in LMNA, which encodes nuclear intermediate filament proteins lamins A/C, affect skeletal muscle tissues. Early-onset LMNA myopathies reveal different alterations of muscle fibers, including fiber type disproportion or prominent dystrophic and/or inflammatory changes. Recently, we identified the p.R388P LMNA mutation as responsible for congenital muscular dystrophy (L-CMD) and lipodystrophy. Here, we asked whether viral-mediated expression of mutant lamin A in murine skeletal muscles would be a pertinent model to reveal specific muscle alterations...
April 24, 2017: Cells
https://www.readbyqxmd.com/read/28438793/brassinosteroid-biosynthesis-is-modulated-via-a-transcription-factor-cascade-of-cog1-pif4-and-pif5
#7
Zhuoyun Wei, Tong Yuan, Danuše Tarkowská, Jeongsik Kim, Hong Gil Nam, Ondřej Novák, Kai He, Xiaoping Gou, Jia Li
Brassinosteroids (BRs) are essential phytohormones regulating various developmental and physiological processes during normal growth and development. cog1-3D (cogwheel 1-3D) was identified as an activation-tagged genetic modifier of bri1-5, an intermediate BR receptor mutant. COG1 encodes a Dof-type transcription factor previously found to act as a negative regulator of the phytochrome signaling pathway. cog1-3D single mutants show an elongated hypocotyl phenotype under light conditions. Loss-of-function by ethylmethanoesulfonate (EMS) mutation or inducible expression of a dominant-negative form of COG1 results in an opposite phenotype...
April 24, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28432052/genomic-instability-in-cancer-teetering-on-the-limit-of-tolerance
#8
REVIEW
Noemi Andor, Carlo C Maley, Hanlee P Ji
Cancer genomic instability contributes to the phenomenon of intratumoral genetic heterogeneity, provides the genetic diversity required for natural selection, and enables the extensive phenotypic diversity that is frequently observed among patients. Genomic instability has previously been associated with poor prognosis. However, we have evidence that for solid tumors of epithelial origin, extreme levels of genomic instability, where more than 75% of the genome is subject to somatic copy number alterations, are associated with a potentially better prognosis compared with intermediate levels under this threshold...
April 21, 2017: Cancer Research
https://www.readbyqxmd.com/read/28431563/inheritance-of-brewing-relevant-phenotypes-in-constructed-saccharomyces-cerevisiae%C3%A2-%C3%A3-%C3%A2-saccharomyces-eubayanus-hybrids
#9
Kristoffer Krogerus, Tuulikki Seppänen-Laakso, Sandra Castillo, Brian Gibson
BACKGROUND: Interspecific hybridization has proven to be a potentially valuable technique for generating de novo lager yeast strains that possess diverse and improved traits compared to their parent strains. To further enhance the value of hybridization for strain development, it would be desirable to combine phenotypic traits from more than two parent strains, as well as remove unwanted traits from hybrids. One such trait, that has limited the industrial use of de novo lager yeast hybrids, is their inherent tendency to produce phenolic off-flavours; an undesirable trait inherited from the Saccharomyces eubayanus parent...
April 21, 2017: Microbial Cell Factories
https://www.readbyqxmd.com/read/28427704/comparison-of-brain-and-spinal-cord-magnetic-resonance-imaging-features-in-neuromyelitis-optica-spectrum-disorders-patients-with-or-without-aquaporin-4-antibody
#10
Moli Fan, Ying Fu, Lei Su, Yi Shen, Kristofer Wood, Li Yang, Yaou Liu, Fu-Dong Shi
BACKGROUND: The spinal cord and brain measurements are rarely investigated in neuromyelitis optica (NMO) patients with and without antibodies to aquaporin-4 (AQP4), directly compared to multiple sclerosis (MS) patients. OBJECTIVES: To investigate magnetic resonance imaging (MRI) features of both brain and spinal cord in NMO patients with and without antibodies to AQP4, compared with MS patients and healthy controls (HC). METHODS: We recruited 55 NMO including 30 AQP4 (+) and 25 AQP4 (-), 25 MS and 25 HC...
April 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28426667/bioenergetic-status-modulates-motor-neuron-vulnerability-and-pathogenesis-in-a-zebrafish-model-of-spinal-muscular-atrophy
#11
Penelope J Boyd, Wen-Yo Tu, Hannah K Shorrock, Ewout J N Groen, Roderick N Carter, Rachael A Powis, Sophie R Thomson, Derek Thomson, Laura C Graham, Anna A L Motyl, Thomas M Wishart, J Robin Highley, Nicholas M Morton, Thomas Becker, Catherina G Becker, Paul R Heath, Thomas H Gillingwater
Degeneration and loss of lower motor neurons is the major pathological hallmark of spinal muscular atrophy (SMA), resulting from low levels of ubiquitously-expressed survival motor neuron (SMN) protein. One remarkable, yet unresolved, feature of SMA is that not all motor neurons are equally affected, with some populations displaying a robust resistance to the disease. Here, we demonstrate that selective vulnerability of distinct motor neuron pools arises from fundamental modifications to their basal molecular profiles...
April 20, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28426387/characterization-of-bimodal-chronotype-and-its-association-with-sleep-a-population-based-study
#12
Priscila Farias Tempaku, Juliana Ramirez Arruda, Diego Robles Mazzotti, Bruno S B Gonçalves, Mário Pedrazzoli, Lia Bittencourt, Sergio Tufik
The circadian system coordinates internal events in a daily schedule to make sure that the body systems are synchronized to environmental time and internal cues. One important behavioral aspect of the circadian system is the chronotype. It is usually assessed through subjective questionnaires, being the Horne-Ostberg Morningness-Eveningness Questionnaire (MEQ) one of the most used. It classifies individuals into three major categories: morning, evening, and intermediate types. Recently, it has been hypothesized the existence of a fourth chronotype, the bimodal type, through an algorithm derived from the MEQ responses...
2017: Chronobiology International
https://www.readbyqxmd.com/read/28425185/the-influence-of-hippocampal-atrophy-on-the-cognitive-phenotype-of-dementia-with-lewy-bodies
#13
Greg J Elder, Karen Mactier, Sean J Colloby, Rosie Watson, Andrew M Blamire, John T O'Brien, John-Paul Taylor
OBJECTIVE: The level of hippocampal atrophy in dementia with Lewy bodies (DLB) is typically less than that observed in Alzheimer's disease (AD). However, it is not known how the cognitive phenotype of DLB is influenced by hippocampal atrophy or the atrophy of adjacent medial temporal lobe structures. METHODS: Dementia with Lewy bodies (n = 65), AD (n = 76) and control (n = 63) participants underwent 3T magnetic resonance imaging and cognitive Cambridge Cognitive Examination and Mini-Mental State Examination (CAMCOG and MMSE) assessments...
April 20, 2017: International Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/28424304/giant-axonal-neuropathy-alters-the-structure-of-keratin-intermediate-filaments-in-human-hair
#14
Asfia Soomro, Richard J Alsop, Atsuko Negishi, Laurent Kreplak, Douglas Fudge, Edward R Kuczmarski, Robert D Goldman, Maikel C Rheinstädter
Giant axonal neuropathy (GAN) follows an autosomal recessive genetic inheritance and impedes the peripheral and central nervous system due to axonal swellings that are packed with neurofilaments. The patients display a number of phenotypes, including hypotonia, muscle weakness, decreased reflexes, ataxia, seizures, intellectual disability, pale skin and often curled hair. We used X-ray diffraction and tensile testing to determine potential changes to the structure of keratin intermediate filaments (IFs) in the hair of patients with GAN...
April 2017: Journal of the Royal Society, Interface
https://www.readbyqxmd.com/read/28422989/the-lack-of-btk-does-not-impair-monocytes-and-polymorphonuclear-cells-functions-in-x-linked-agammaglobulinemia-under-treatment-with-intravenous-immunoglobulin-replacement
#15
Filomena Monica Cavaliere, Alessandro Prezzo, Caterina Bilotta, Metello Iacobini, Isabella Quinti
The lack of BTK in X-linked agammaglobulinemia (XLA) patients does not affect monocytes and polymorphonuclear cells (PMN) phenotype and functions. In this study, we show that XLA patients had an increased frequency of the intermediate monocytes subset and that BTK-deficient monocytes and PMN had a normal expression of receptors involved in the activation and cellular responses. We demonstrate that BTK is not required for migration, phagocytosis and the production of reactive oxygen species (ROS) following engagement of FC gamma receptors (FcγR)...
2017: PloS One
https://www.readbyqxmd.com/read/28420746/the-mitochondrial-dna-mtdna-associated-protein-swib5-influences-mtdna-architecture-and-homologous-recombination
#16
Jonas Blomme, Olivier Van Aken, Jelle Van Leene, Teddy Jégu, Riet Maria De Rycke, Michiel De Bruyne, Jasmien Vercruysse, Jonah Nolf, Twiggy Van Daele, Liesbeth De Milde, Mattias Vermeersch, Catherine Colas des Francs-Small, Geert De Jaeger, Moussa Benhamed, A Harvey Millar, Dirk Inzé, Nathalie Gonzalez
In addition to the nucleus, mitochondria and chloroplasts in plant cells also contain genomes. Efficient DNA repair pathways are crucial in these organelles to fix damage resulting from endogenous and exogenous factors. Plant organellar genomes are complex compared to their animal counterparts and although several plant-specific mediators of organelle DNA repair have been reported, many regulators remain to be identified. Here, we show that a mitochondrial SWI/SNF (nucleosome remodeling) complex B protein, SWIB5, is capable of associating with mitochondrial DNA (mtDNA) in Arabidopsis thaliana...
April 18, 2017: Plant Cell
https://www.readbyqxmd.com/read/28420693/modulation-of-innate-immunity-of-patients-with-alzheimer-s-disease-by-omega-3-fatty-acids
#17
REVIEW
Milan Fiala, Gijs Kooij, Karen Wagner, Bruce Hammock, Matteo Pellegrini
The innate immune system of patients with Alzheimer's disease and mild cognitive impairment (MCI) is deregulated with highly increased or decreased transcription of inflammatory genes and consistently depressed phagocytosis of amyloid-β1-42 (Aβ) by monocytes and macrophages. Current immune therapies target single mechanisms in the adaptive immune system but not innate immunity. Here, we summarize recent advances in therapy by ω-3, ω-6, and epoxy fatty acids; specialized proresolving mediators; and vitamin D3 that have proven immune effects and emerging cognitive effects in patients with MCI...
April 18, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28419831/molecular-phenotyping-of-transient-postnatal-tyrosine-hydroxylase-neurons-in-the-rat-bed-nucleus-of-the-stria-terminalis
#18
David A Carter
The bed nucleus of the stria terminalis (BNST) is a complex integrative centre in the forebrain, composed of multiple sub-nuclei, each with discrete populations of neurons. Progress in understanding BNST function, both in the adult and during postnatal maturation, is dependent upon a more complete characterization of neuronal phenotypes in the BNST. The aim of the current study was to define the molecular phenotype of one postnatal BNST neuronal population, in order to identify molecular factors that may underlie both (protein marker-related) immaturity, and secondly, the transience of this phenotype...
April 15, 2017: Journal of Chemical Neuroanatomy
https://www.readbyqxmd.com/read/28419447/divergence-and-evolution-of-assortative-mating-in-a-polygenic-trait-model-of-speciation-with-gene-flow
#19
Himani Sachdeva, Nicholas H Barton
Assortative mating is an important driver of speciation in populations with gene flow and is predicted to evolve under certain conditions in few-locus models. However, the evolution of assortment is less understood for mating based on quantitative traits, which are often characterized by high genetic variability and extensive linkage disequilibrium between trait loci. We explore this scenario for a two-deme model with migration, by considering a single polygenic trait subject to divergent viability selection across demes, as well as assortative mating and sexual selection within demes, and investigate how trait divergence is shaped by various evolutionary forces...
April 17, 2017: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/28419401/unilateral-pigmented-paravenous-retinochoroidal-atrophy-associated-with-presumed-ocular-tuberculosis
#20
Guillermo Fernandez-Sanz, Ester Carreño, Sonia Mall, Magella M Neveu, Graham E Holder, Dhanes Thomas
This report describes a case of unilateral pigmented paravenous retinochoroidal atrophy (PPRCA) in a patient with low-grade unilateral intermediate uveitis. A 31-year-old woman, previously diagnosed with intermediate uveitis in the right eye (OD) presented to the clinic. Best-corrected visual acuity was 20/20 OD. Fundus examination, fluorescein angiography, autofluorescence, and optical coherence tomography OD were in keeping with a phenotypic diagnosis of PPRCA. Electrophysiology showed severe photoreceptor dysfunction of both the rod and the cone systems OD...
April 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
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