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Phenotypic heterogeneity

Alessandro Borghesi, Mauro Stronati, Riccardo Castagnoli, Irene Ioimo, Cristian Achille, Paolo Manzoni, Chryssoula Tzialla
The pathogenesis of neonatal infection is incompletely understood. Neonatal immune immaturity and the microbial factors of virulence only partially explain the interindividual differences in the protective responses to the most common neonatal pathogens. Stratification of infants into high- and low-risk groups through epidemiological studies has been invaluable in designing preventive strategies and reducing the burden of neonatal infection. The discovery of the role of maternal antibodies (Abs) as, for instance, anti-capsular polysaccharide group B streptococcal (GBS) Abs, in protecting newborn infants against neonatal GBS sepsis, has been a milestone in the unraveling of the molecular underpinnings of susceptibility to infection in the neonatal age...
May 2018: American Journal of Perinatology
Fanny A Pelissier Vatter, Denis Schapiro, Hang Chang, Alexander D Borowsky, Jonathan K Lee, Bahram Parvin, Martha R Stampfer, Mark A LaBarge, Bernd Bodenmiller, James B Lorens
Aging is associated with tissue-level changes in cellular composition that are correlated with increased susceptibility to disease. Aging human mammary tissue shows skewed progenitor cell potency, resulting in diminished tumor-suppressive cell types and the accumulation of defective epithelial progenitors. Quantitative characterization of these age-emergent human cell subpopulations is lacking, impeding our understanding of the relationship between age and cancer susceptibility. We conducted single-cell resolution proteomic phenotyping of healthy breast epithelia from 57 women, aged 16-91 years, using mass cytometry...
April 24, 2018: Cell Reports
C E Petrea, Ş Crăiţoiu, A D Vrapciu, V S Mănoiu, M C Rusu
Telocytes (TCs) are stromal cells defined by the presence of long and slender prolongations (telopodes). They are a biologically and functionally heterogeneous population that has not been previously investigated in the sclera. The purpose of this study is to investigate the presence and characteristics of scleral telocytes through a combined immunohistochemical and transmission electron microscopy (TEM) study using samples from ten adult patients. Stromal cells with a TC-like morphology expressed CD34, CD45, CD105, vimentin and occasionally CD68 but were negative for collagen III, CD31, CD133, and CD146...
April 22, 2018: Annals of Anatomy, Anatomischer Anzeiger: Official Organ of the Anatomische Gesellschaft
Sarah Duerinckx, Marije Meuwissen, Camille Perazzolo, Laurence Desmyter, Isabelle Pirson, Marc Abramowicz
BACKGROUND: Autosomal recessive intellectual disability (ARID) is vastly heterogeneous. Truncating mutations of TRAPPC9 were reported in 8 ARID families. Autosomal recessive primary microcephaly (MCPH) represents another subgroup of ARID, itself very heterogeneous, where the size of the brain is very small since birth. MCPH1 plays a role at the centrosome via a BRCT1 domain, and in DNA Damage Repair (DDR) via BRCT2 and BRCT3, and it is not clear which of these two mechanisms causes MCPH in man...
April 24, 2018: Molecular Genetics & Genomic Medicine
Alvise Berti, Roscoe Warner, Kent Johnson, Divi Cornec, Darrell Schroeder, Brian Kabat, Carol A Langford, Gary S Hoffman, Fernanado C Fervenza, Cees G M Kallenberg, Philip Seo, Robert Spiera, E William St Clair, Paul Brunetta, John H Stone, Peter A Merkel, Ulrich Specks, Paul A Monach
OBJECTIVES: To evaluate circulating cytokine profiles in patients with ANCA-associated vasculitis (AAV), classified by ANCA specificity (proteinase 3 (PR3)-ANCA versus myeloperoxidase (MPO)-ANCA) or by clinical diagnosis (granulomatosis with polyangiitis (GPA) versus microscopic polyangiitis (MPA)). METHODS: A panel of 29 cytokines was tested in 186 patients with active AAV at inclusion into the Rituximab in AAV (RAVE) trial. Cytokine concentrations were compared between groups within each classification system...
April 25, 2018: Arthritis & Rheumatology
U Garza-Ramos, H Barrios-Camacho, S Moreno-Domínguez, J Toribio-Jiménez, D Jardón-Pineda, J Cuevas-Peña, A Sánchez-Pérez, J Duran-Bedolla, J Olguín-Rodriguez, A Román-Román
Klebsiella spp. isolates from community-acquired infections were characterized. A total of 39 Klebsiella spp. isolates were obtained from outpatients at four rural hospitals in Mexico (2013-2014). The biochemical tests identified all as being K. pneumoniae . The molecular multiplex-PCR test identified 36 (92.4%) K. pneumoniae isolates and one (2.5%) K. variicola isolate, and phylogenetic analysis of the rpoB gene identified two isolates (5.1%) belonging to K. quasipneumoniae subsp. quasipneumoniae and K...
May 2018: New Microbes and New Infections
Lorena Travaglini, Chiara Aiello, Fabrizia Stregapede, Adele D'Amico, Viola Alesi, Andrea Ciolfi, Alessandro Bruselles, Michela Catteruccia, Simone Pizzi, Ginevra Zanni, Sara Loddo, Sabina Barresi, Gessica Vasco, Marco Tartaglia, Enrico Bertini, Francesco Nicita
Hereditary spastic paraplegias (HSP) are clinical and genetic heterogeneous diseases with more than 80 disease genes identified thus far. Studies on large cohorts of HSP patients showed that, by means of current technologies, the percentage of genetically solved cases is close to 50%. Notably, the percentage of molecularly confirmed diagnoses decreases significantly in sporadic patients. To describe our diagnostic molecular genetic approach on patients with pediatric-onset pure and complex HSP, 47 subjects with HSP underwent molecular screening of 113 known and candidate disease genes by targeted capture and massively parallel sequencing...
April 24, 2018: Neurogenetics
Joshi Stephen, Sheela Nampoothiri, Aditi Banerjee, Nathanial J Tolman, Josef Martin Penninger, Ullrich Elling, Chukwuma A Agu, John D Burke, Kalpana Devadathan, Rajesh Kannan, Yan Huang, Peter J Steinbach, Susan A Martinis, William A Gahl, May Christine V Malicdan
Progressive microcephaly and neurodegeneration are genetically heterogenous conditions, largely associated with genes that are essential for the survival of neurons. In this study, we interrogate the genetic etiology of two siblings from a non-consanguineous family with severe early onset of neurological manifestations. Whole exome sequencing identified novel compound heterozygous mutations in VARS that segregated with the proband: a missense (c.3192G>A; p.Met1064Ile) and a splice site mutation (c.1577-2A>G)...
April 24, 2018: Human Genetics
José-Luis L Rivero
From a terrestrial ancestry, fin whale ( Balaenoptera physalus ) is one of the largest animal on Earth with a sprinter antipredator strategy, and a characteristic feeding mode, lunge feeding, which involve bouts of high-intensity muscle activity demanding high metabolic output. We investigated the locomotor muscle morphology and metabolism of this cetacean to determine whether its muscle profile (1) explains this unique swimming performance and feeding behaviour, (2) is or is not homogeneous within the muscle, and (3) predicts allometric variations inherent to an extreme body size...
April 24, 2018: Journal of Experimental Biology
Daniel Modin, Ditte Madsen Andersen, Tor Biering-Sørensen
Heart failure (HF) is a threat to public health. Heterogeneities in etiology and phenotype complicate the diagnosis and management of HF. This is especially true when considering HF with preserved ejection fraction (HFpEF) which make up 50% of HF cases. Natriuretic peptides may aid in establishing a working diagnosis in patients suspected of HF, but echocardiography remains the optimal choice for diagnosing HF. Echocardiography provides important prognostic information in both HF with reduced ejection fraction (HFrEF) and HFpEF...
April 24, 2018: Echo Research and Practice
Maya Botzman, Irit Gat-Viks
Major efforts are invested in the analysis of phenotypic variation in a population of individuals. While many of these studies focus on the genetic basis of phenotypic variation via measurements of DNA polymorphic sites, the environmental effects are still elusive. Here we propose a methodology, called CCCE ('Cell Composition Common Environment'), to identify environmental effects on the composition of immune cell functionalities. Specifically, CCCE is focused on the common experiences that are shared between siblings (the 'common environment'), designed to correct for cell subpopulation heterogeneity, and is based on a multicolor flow cytometry analysis across a large cohort of human monozygotic and dizygotic twins...
2018: PloS One
Midrelle E Noumbissi, Bianca Galasso, Monique F Stins
The vertebrate blood-brain barrier (BBB) is composed of cerebral microvascular endothelial cells (CEC). The BBB acts as a semi-permeable cellular interface that tightly regulates bidirectional molecular transport between blood and the brain parenchyma in order to maintain cerebral homeostasis. The CEC phenotype is regulated by a variety of factors, including cells in its immediate environment and within functional neurovascular units. The cellular composition of the brain parenchyma surrounding the CEC varies between different brain regions; this difference is clearly visible in grey versus white matter...
April 23, 2018: Fluids and Barriers of the CNS
Véronique Geoffroy, Corinne Stoetzel, Sophie Scheidecker, Elise Schaefer, Isabelle Perrault, Séverine Bär, Ariane Kröll, Marion Delbarre, Manuela Antin, Anne-Sophie Leuvrey, Charline Henry, Hélène Blanché, Eva Decker, Katja Kloth, Günter Klaus, Christoph Mache, Dominique Martin-Coignard, Steven McGinn, Anne Boland, Jean-François Deleuze, Sylvie Friant, Sophie Saunier, Jean-Michel Rozet, Carsten Bergmann, Hélène Dollfus, Jean Muller
Ciliopathies represent a wide spectrum of rare diseases with overlapping phenotypes and a high genetic heterogeneity. Among those, IFT140 is implicated in a variety of phenotypes ranging from isolated retinis pigmentosa to more syndromic cases such as the Bardet-Biedl syndrome. Using whole genome sequencing in patients with uncharacterized ciliopathies, we identified a novel recurrent tandem duplication of exon 27 to 30 (6.7 kb) in IFT140, c.3454-488_4182+2588dup p.(Tyr1152_Thr1394dup), missed by whole exome sequencing...
April 24, 2018: Human Mutation
Marielle Kaplan, Anna Shur, Yvgeny Tendler
Arterial macrophages comprise a heterogeneous population: pro-inflammatory (M1) and anti-inflammatory (M2). Since C-reactive protein (CRP) is produced by macrophages in atherosclerotic lesions, understanding of CRP regulation in macrophages could be crucial to decipher inflammatory patterns in atherogenesis. We aimed to analyze CRP expression in M1/M2 macrophages and to question whether it involves NFκB signaling pathway. Furthermore, we questioned whether oxidative stress affect macrophage phenotype and modulate macrophage CRP expression...
April 23, 2018: Inflammation
Hubert Tseng, Alexes C Daquinag, Glauco R Souza, Mikhail G Kolonin
White adipose tissue (WAT) has attracted interest for tissue engineering and cell-based therapies as an abundant source of adipose stem/stromal cells (ASC). However, technical challenges in WAT cell culture have limited its applications in regenerative medicine. Traditional two-dimensional (2D) cell culture models, which are essentially monolayers of cells on glass or plastic substrates, inadequately represent tissue architecture, biochemical concentration gradients, substrate stiffness, and most importantly for WAT research, cell phenotypic heterogeneity...
2018: Methods in Molecular Biology
Judith Montag, Kathrin Kowalski, Mirza Makul, Pia Ernstberger, Ante Radocaj, Julia Beck, Edgar Becker, Snigdha Tripathi, Britta Keyser, Christian Mühlfeld, Kirsten Wissel, Andreas Pich, Jolanda van der Velden, Cristobal G Dos Remedios, Andreas Perrot, Antonio Francino, Francesco Navarro-López, Bernhard Brenner, Theresia Kraft
Hypertrophic Cardiomyopathy (HCM) has been related to many different mutations in more than 20 different, mostly sarcomeric proteins. While development of the HCM-phenotype is thought to be triggered by the different mutations, a common mechanism remains elusive. Studying missense-mutations in the ventricular beta-myosin heavy chain (β-MyHC, MYH7 ) we hypothesized that significant contractile heterogeneity exists among individual cardiomyocytes of HCM-patients that results from cell-to-cell variation in relative expression of mutated vs...
2018: Frontiers in Physiology
John R Krause, Sarah Findeis
Mixed phenotypic acute leukemias (MPALs) are a heterogeneous group of rare leukemias constituting about 1% to 5% of all leukemias. MPAL is defined as an acute leukemia that demonstrates expression of a combination of antigens of different lineages so that it is not possible to assign a single lineage to that leukemia. These leukemias have been characterized by relative therapeutic resistance. We present a case of a woman with an acute MPAL diagnosed as a B/myeloid leukemia.
January 2018: Proceedings of the Baylor University Medical Center
Yali Wang, Yuan Gao, Chao Li, Hong Gao, Cheng-Cai Zhang, Xudong Xu
Anabaena sp. PCC 7120 is a model strain for molecular studies of cell differentiation and patterning in heterocyst-forming cyanobacteria. Subtle differences in heterocyst development have been noticed in different laboratories working on the same organism. In this study, 360 mutations, including single nucleotide polymorphisms (SNPs), small insertion/deletions (InDels, 1 to 3 bp), fragment deletions and transpositions, were identified in genomes of three substrains. Heterogeneous/heterozygous bases were also identified due to the polyploidy nature of the genome and the multicellular morphology, but could be completely segregated when plated after filament fragmentation by sonication...
April 23, 2018: Journal of Bacteriology
John K Lee, Nathanael J Bangayan, Timothy Chai, Bryan A Smith, Tiffany E Pariva, Sangwon Yun, Ajay Vashisht, Qingfu Zhang, Jung Wook Park, Eva Corey, Jiaoti Huang, Thomas G Graeber, James Wohlschlegel, Owen N Witte
Prostate cancer is a heterogeneous disease composed of divergent molecular and histologic subtypes, including prostate adenocarcinoma (PrAd) and neuroendocrine prostate cancer (NEPC). While PrAd is the major histology in prostate cancer, NEPC can evolve from PrAd as a mechanism of treatment resistance that involves a transition from an epithelial to a neurosecretory cancer phenotype. Cell surface markers are often associated with specific cell lineages and differentiation states in normal development and cancer...
April 23, 2018: Proceedings of the National Academy of Sciences of the United States of America
Jian Liu, Sevan Arabaciyan, Jean Marie François, Jean-Pascal Capp
Bimodality in gene expression is thought to provide a high phenotypic heterogeneity that can be favorable for adaptation or unfavorable notably in industrial processes that require stable and homogenous properties. Whether this property is produced or suppressed in different conditions has been understudied. Here we identified tens of Saccharomyces cerevisiae genomic fragments conferring bimodal yEGFP expression on centromeric plasmid and studied some of these promoters in different DNA contexts, inducing conditions or strain backgrounds...
April 19, 2018: FEMS Yeast Research
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