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Intermediate phenotypes

Rebecca J Sardell, Muneeswar G Nittala, Larry D Adams, Reneé A Laux, Jessica N Cooke Bailey, Denise Fuzzell, Sarada Fuzzell, Lori Reinhart-Mercer, Laura J Caywood, Violet Horst, Tine Mackay, Debbie Dana, SriniVas R Sadda, William K Scott, Dwight Stambolian, Jonathan L Haines, Margaret A Pericak-Vance
PURPOSE: To evaluate the heritability of choroidal thickness and its relationship to age-related macular degeneration (AMD). DESIGN: Cohort study. PARTICIPANTS: Six hundred eighty-nine individuals from Amish families with early or intermediate AMD. METHODS: Ocular coherence tomography was used to quantify choroidal thickness, and fundus photography was used to classify eyes into categories using a modified Clinical Age-Related Maculopathy Staging (CARMS) system...
October 19, 2016: Ophthalmology
Rafael O Alvim, Andréa R V R Horimoto, Camila M Oliveira, Luiz A Bortolotto, José E Krieger, Alexandre C Pereira
BACKGROUND: Increased arterial stiffness is an important determinant of cardiovascular disease risk. In addition, it has been recognized that arterial stiffness has familial aggregation; however, there are no studies involving Brazilian families. Thus, the aim of this study was to evaluate the heritability of arterial stiffness in a Brazilian population. METHODS: In this study, 1675 eligible individuals (both sexes and aged 18-102 years) were distributed in 125 families resident in the municipality of Baependi, a city located in the southeast of Brazil...
October 19, 2016: Journal of Hypertension
Kipp Weiskopf, Peter J Schnorr, Wendy W Pang, Mark P Chao, Akanksha Chhabra, Jun Seita, Mingye Feng, Irving L Weissman
The hematopoietic stem cell (HSC) is a multipotent stem cell that resides in the bone marrow and has the ability to form all of the cells of the blood and immune system. Since its first purification in 1988, additional studies have refined the phenotype and functionality of HSCs and characterized all of their downstream progeny. The hematopoietic lineage is divided into two main branches: the myeloid and lymphoid arms. The myeloid arm is characterized by the common myeloid progenitor and all of its resulting cell types...
October 2016: Microbiology Spectrum
Eugen Widmeier, Weizhen Tan, Merlin Airik, Friedhelm Hildebrandt
INTRODUCTION: Steroid-resistant nephrotic syndrome (SRNS) inevitably progresses to end-stage kidney disease, requiring dialysis or transplantation for survival. However, treatment modalities and drug discovery remain limited. Mutations in over 30 genes have been discovered as monogenic causes of SRNS. Most of these genes are predominantly expressed in the glomerular epithelial cell, the podocyte, placing it at the center of the pathogenesis of SRNS. Podocyte migration rate (PMR) represents a relevant intermediate phenotype of disease in monogenic causes of SRNS...
October 19, 2016: American Journal of Physiology. Renal Physiology
Giang Huong Nguyen, James Y Wang, Kenneth B Hymes, Cynthia M Magro
Adult T-cell leukemia/lymphoma (ATLL) is a rare and often aggressive lymphoid malignancy known to be associated with human T-cell lymphotropic virus type 1. There are 2 broad categories: acute and chronic. In the acute category, there is a leukemic and a lymphomatous variant, whereas in the designated "chronic" form, there is mild peripheral blood lymphocytosis. The intermediate "smoldering" category is without peripheral blood lymphocytosis with only discernible skin involvement. We present a 68-year-old human T-cell lymphotropic virus type 1 seropositive female with a mild peripheral blood atypical lymphocytosis who had indurated nodules on her hands of 2 years duration and a new scaly ichthyosiform eruption on her lower extremities...
October 12, 2016: American Journal of Dermatopathology
Henk-Jan Westeneng, Renée Walhout, Milou Straathof, Ruben Schmidt, Jeroen Hendrikse, Jan H Veldink, Martijn P van den Heuvel, Leonard H van den Berg
BACKGROUND: In patients with a C9orf72 repeat expansion (C9+), a neuroimaging phenotype with widespread structural cerebral changes has been found. We aimed to investigate the specificity of this neuroimaging phenotype in patients with amyotrophic lateral sclerosis (ALS). METHODS: 156 C9- and 14 C9+ patients with ALS underwent high-resolution T1-weighted MRI; a subset (n=126) underwent diffusion-weighted imaging. Cortical thickness, subcortical volumes and white matter integrity were compared between C9+ and C9- patients...
October 18, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
Farah Ben Tanfous, Carla Andrea Alonso, Wafa Achour, Laura Ruiz-Ripa, Carmen Torres, Assia Ben Hassen
The aim of this study was to investigate the molecular features among Klebsiella pneumoniae and Escherichia coli strains showing a resistant/intermediate-resistant phenotype to ertapenem (R/IR-ERT), implicated in colonization/infection in patients of the Hematology and Graft Units of the National Bone Marrow Transplant Center of Tunisia (3-year period, 2011-2014). The major carbapenemase, extended-spectrum beta-lactamase, and plasmidic AmpC beta-lactamase genes were analyzed and characterized by PCR and sequencing...
October 18, 2016: Microbial Drug Resistance: MDR: Mechanisms, Epidemiology, and Disease
Tristram A Lett, Henrik Walter, Eva J Brandl
Genetic variation underlies both the response to antidepressant treatment and the occurrence of side effects. Over the past two decades, a number of pharmacogenetic variants, among these the SCL6A4, BDNF, FKBP5, GNB3, GRIK4, and ABCB1 genes, have come to the forefront in this regard. However, small effects sizes, mixed results in independent samples, and conflicting meta-analyses results led to inherent difficulties in the field of pharmacogenetics translating these findings into clinical practice. Nearly all antidepressant pharmacogenetic variants have potentially pleiotropic effects in which they are associated with major depressive disorder, intermediate phenotypes involved in emotional processes, and brain areas affected by antidepressant treatment...
October 17, 2016: CNS Drugs
Eamonn B Mallon, Harindra E Amarasinghe, Swidbert R Ott
Desert locusts (Schistocerca gregaria) show a dramatic form of socially induced phenotypic plasticity known as phase polyphenism. In the absence of conspecifics, locusts occur in a shy and cryptic solitarious phase. Crowding with conspecifics drives a behavioural transformation towards gregariousness that occurs within hours and is followed by changes in physiology, colouration and morphology, resulting in the full gregarious phase syndrome. We analysed methylation-sensitive amplified fragment length polymorphisms (MS-AFLP) to compare the effect of acute and chronic crowding on DNA methylation in the central nervous system...
October 18, 2016: Scientific Reports
Adam Kawałek, Chandhuru Jagadeesan, Ida J van der Klei
The non-bilayer forming lipids cardiolipin (CL) and phosphatidylethanolamine (PE) modulate membrane curvature, facilitate membrane fusion and affect the stability and function of membrane proteins. Yeast peroxisomal membranes contain significant amounts of CL and PE. We analysed the effect of CL deficiency and PE depletion on peroxisome biogenesis and proliferation in Saccharomyces cerevisiae. Our data indicate that deletion of CRD1, which encodes cardiolipin synthase, does not affect peroxisome biogenesis or abundance, both at peroxisome repressing (glucose) or inducing (oleate) growth conditions...
October 13, 2016: Biochemical and Biophysical Research Communications
Hong Li, Melanie Elphick, Richard Shine
Viviparity (live-bearing) has evolved from oviparity (egg-laying) in more than 100 lineages of squamate reptiles (lizards and snakes). This transition generally has occurred in cool climates, where thermal differentials between eggs in the (cool) nest versus the (warm) maternal oviduct influence embryonic development, in ways that may enhance offspring fitness. To identify specific traits potentially under selection, we incubated eggs of a montane scincid lizard at conditions simulating natural nests, maternal body temperatures, and an intermediate stage (2-week uterine retention of eggs prior to laying)...
October 14, 2016: Oecologia
Venkatesh L Murthy, Siddique A Abbasi, Juned Siddique, Laura A Colangelo, Jared Reis, Bharath A Venkatesh, J Jeffrey Carr, James G Terry, Sarah M Camhi, Michael Jerosch-Herold, Sarah de Ferranti, Saumya Das, Jane Freedman, Mercedes R Carnethon, Cora E Lewis, Joao A C Lima, Ravi V Shah
BACKGROUND: Despite evidence suggesting that early metabolic dysfunction impacts cardiovascular disease risk, current guidelines focus on risk assessments later in life, missing early transitions in metabolic risk that may represent opportunities for averting the development of cardiovascular disease. METHODS AND RESULTS: In 4420 young adults in the Coronary Artery Risk Development in Young Adults (CARDIA) study, we defined a "metabolic" risk score based on components of the Third Report of the Adult Treatment Panel's definition of metabolic syndrome...
October 13, 2016: Journal of the American Heart Association
Pedro F Soler-Lloréns, Chris R Quance, Sara D Lawhon, Tod P Stuber, John F Edwards, Thomas A Ficht, Suelee Robbe-Austerman, David O'Callaghan, Anne Keriel
Brucella are highly infectious bacterial pathogens responsible for brucellosis, a frequent worldwide zoonosis. The Brucella genus has recently expanded from 6 to 11 species, all of which were associated with mammals; The natural host range recently expanded to amphibians after some reports of atypical strains from frogs. Here we describe the first in depth phenotypic and genetic characterization of a Brucella strains isolated from a frog. Strain B13-0095 was isolated from a Pac-Man frog (Ceratophyrus ornate) at a veterinary hospital in Texas and was initially misidentified as Ochrobactrum anthropi...
2016: Frontiers in Cellular and Infection Microbiology
Florian Geisler, Harald Gerhardus, Katrin Carberry, Wayne Davis, Erik Jorgensen, Christine Richardson, Olaf Bossinger, Rudolf E Leube
Intermediate filaments are major cytoskeletal components whose assembly into complex networks and isotype-specific functions are still largely unknown. Caenorhabditis elegans provides an excellent model system to study intermediate filament organization and function in vivo Its intestinal intermediate filaments localize exclusively to the endotube, a circumferential sheet just below the actin-based terminal web. A genetic screen for defects in the organization of intermediate filaments identified a mutation in the catalytic domain of the MAP kinase 7 ortholog sma-5(kc1) In sma-5(kc1) mutants pockets of lumen penetrate the cytoplasm of the intestinal cells...
October 12, 2016: Molecular Biology of the Cell
S Wattanapokayakit, T Mushiroda, H Yanai, N Wichukchinda, C Chuchottawon, S Nedsuwan, A Rojanawiwat, S Denjanta, T Kantima, J Wongyai, W Suwankesawong, W Rungapiromnan, R Kidkeukarun, W Bamrungram, A Chaiwong, S Suvichapanich, S Mahasirimongkol, K Tokunaga
BACKGROUND: Anti-tuberculosis drug-induced liver injury (AT-DILI) is one of the most common forms of drug-induced liver injury (DILI) in high tuberculosis (TB) burden countries. Among anti-tuberculosis drugs, isoniazid is the main cause of hepatotoxicity in patients with AT-DILI. OBJECTIVE: To investigate the association of AT-DILI with N-acetyltransferase 2 (NAT2) genotype status in Thai TB patients. METHODS: We enrolled 53 patients diagnosed with AT-DILI and 85 patients who tolerated anti-tuberculosis treatment as controls...
October 2016: International Journal of Tuberculosis and Lung Disease
Stephanie C Burke Schinkel, Steven Rubin, Kathryn E Wright
Temperature sensitivity is a phenotype often associated with attenuation of viruses. Previously, we purified several mumps variants from an incompletely attenuated Urabe strain live attenuated vaccine. Here we characterize one isolate that is sensitive to growth at high temperature. This virus was attenuated in a small animal model of mumps virulence, and we identified unique coding substitutions in the hemagglutinin-neuraminidase (HN), the viral polymerase (L) gene, and a non-coding substitution close to the anti-genome promoter sequences...
October 6, 2016: Virus Research
Peter Løvendahl, Lars Peter Sørensen, Martin Bjerring, Jan Lassen
Dairy cows milked in automatic milking systems (AMS) with more than 1 milking box may, as individuals, have a preference for specific milking boxes if allowed free choice. Estimates of quantitative genetic variation in behavioral traits of farmed animals have previously been reported, with estimates of heritability ranging widely. However, for the consistency of choice in dairy cows, almost no published estimates of heritability exist. The hypothesis for this study was that choice consistency is partly under additive genetic control and partly controlled by permanent environmental (animal) effects...
October 5, 2016: Journal of Dairy Science
Edward M Zoratti, Rebecca Z Krouse, Denise C Babineau, Jacqueline A Pongracic, George T O'Connor, Robert A Wood, Gurjit K Khurana Hershey, Carolyn M Kercsmar, Rebecca S Gruchalla, Meyer Kattan, Stephen J Teach, Steven M Sigelman, Peter J Gergen, Alkis Togias, Cynthia M Visness, William W Busse, Andrew H Liu
BACKGROUND: Children with asthma in low-income urban areas have high morbidity. Phenotypic analysis in these children is lacking, but may identify characteristics to inform successful tailored management approaches. OBJECTIVE: We sought to identify distinct asthma phenotypes among inner-city children receiving guidelines-based management. METHODS: Nine inner-city asthma consortium centers enrolled 717 children aged 6 to 17 years. Data were collected at baseline and prospectively every 2 months for 1 year...
October 2016: Journal of Allergy and Clinical Immunology
Auttawit Sirichoat, Aroonlug Lulitanond, Rattiyaporn Kanlaya, Ratree Tavichakorntrakool, Aroonwadee Chanawong, Sujintana Wongthong, Visith Thongboonkerd
Reduced vancomycin susceptibility of methicillin-resistant Staphylococcus aureus (MRSA) is a worldwide problem. Unfortunately, its genetic marker and molecular mechanisms remained unknown. This study investigated differential phenotypic characteristic and protein expression profiles among three groups of MRSA isolates, including vancomycin-susceptible S. aureus (VSSA), heterogeneous vancomycin-intermediate S. aureus (hVISA) and vancomycin-intermediate S. aureus (VISA) (n = 7 isolates/group). Phenotypic characteristic revealed significant greater number of isolates with non-spreading colony in VISA as compared to both VSSA and hVISA groups...
September 17, 2016: Diagnostic Microbiology and Infectious Disease
Juan Pablo Fededa, Christopher Esk, Beata Mierzwa, Rugile Stanyte, Shuiqiao Yuan, Huili Zheng, Klaus Ebnet, Wei Yan, Juergen A Knoblich, Daniel W Gerlich
Correct orientation of the mitotic spindle determines the plane of cellular cleavage and is crucial for organ development. In the developing cerebral cortex, spindle orientation defects result in severe neurodevelopmental disorders, but the precise mechanisms that control this important event are not fully understood. Here, we use a combination of high-content screening and mouse genetics to identify the miR-34/449 family as key regulators of mitotic spindle orientation in the developing cerebral cortex. By screening through all cortically expressed miRNAs in HeLa cells, we show that several members of the miR-34/449 family control mitotic duration and spindle rotation...
October 5, 2016: EMBO Journal
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