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Phenotypic heterogeneity

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https://www.readbyqxmd.com/read/28214707/shortcuts-to-a-functional-adipose-tissue-the-role-of-small-non-coding-rnas
#1
REVIEW
Bruna B Brandão, Beatriz A Guerra, Marcelo A Mori
Metabolic diseases such as type 2 diabetes are a major public health issue worldwide. These diseases are often linked to a dysfunctional adipose tissue. Fat is a large, heterogenic, pleiotropic and rather complex tissue. It is found in virtually all cavities of the human body, shows unique plasticity among tissues, and harbors many cell types in addition to its main functional unit - the adipocyte. Adipose tissue function varies depending on the localization of the fat depot, the cell composition of the tissue and the energy status of the organism...
February 7, 2017: Redox Biology
https://www.readbyqxmd.com/read/28214216/cancer-stem-cell-cytokeratins-and-epithelial-to-mesenchymal-transition-markers-expression-in-oral-squamous-cell-carcinoma-derived-from-ortothopic-xenoimplantation-of-cd44-high-cells
#2
Nathália Paiva de Andrade, Maria Fernanda Setúbal Destro Rodrigues, Camila Oliveira Rodini, Fabio Daumas Nunes
Oral squamous cell carcinoma (OSCC) is the most prevalent neoplasia of oral cavity worldwide and prognosis remains unchanged in decades. Recently, different authors reported that head and neck squamous cell carcinomas have a subpopulation of tumor initiating cells that apparently correspond to cancer stem cells (CSC) and are also responsible for tumor growth and metastasis. The purpose of the present study was to investigate the microscopic and phenotypic characteristics of OSCC tumors induced after orthotopic xenoimplantation of SCC9(WT) cell line and CSC-enriched subpopulation isolated from SCC9 cell line based on high expression of the putative CSC marker CD44...
December 23, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28212995/heterogeneity-of-circulating-tumor-cells-ctcs-in-patients-with-recurrent-small-cell-lung-cancer-sclc-treated-with-pazopanib
#3
I Messaritakis, E Politaki, M Plataki, V Karavassilis, N Kentepozidis, F Koinis, E Samantas, V Georgoulias, A Kotsakis
OBJECTIVES: To investigate the effect of pazopanib on different CTCs subpopulations in patients with recurrent SCLC and evaluate their clinical relevance. METHODS: Peripheral blood was obtained before the administration of pazopanib (n=56 patients), after the first cycle (n=35 patients) and at disease progression (n=45 patients). CTCs were detected by CellSearch and double immunofluorescent staining using antibodies against the cytokeratins (CK), TTF-1, CD56 and VEGFR2...
February 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/28212789/laboratory-diagnosis-of-echinococcus-spp-in-human-patients-and-infected-animals
#4
M Siles-Lucas, A Casulli, F J Conraths, N Müller
Among the species composing the genus Echinococcus, four species are of human clinical interest. The most prevalent species are Echinococcus granulosus and Echinococcus multilocularis, followed by Echinococcus vogeli and Echinococcus oligarthrus. The first two species cause cystic echinococcosis (CE) and alveolar echinococcosis (AE) respectively. Both diseases have a complex clinical management, in which laboratory diagnosis could be an adjunctive to the imaging techniques. To date, several approaches have been described for the laboratory diagnosis and followup of CE and AE, including antibody, antigen and cytokine detection...
2017: Advances in Parasitology
https://www.readbyqxmd.com/read/28211974/whole-exome-sequencing-identified-1-base-pair-novel-deletion-in-bcl2-associated-athanogene-3-bag3-gene-associated-with-severe-dilated-cardiomyopathy-dcm-requiring-heart-transplant-in-multiple-family-members
#5
Muhammad Arshad Rafiq, Ayeshah Chaudhry, Melanie Care, Danna A Spears, Chantal F Morel, Robert M Hamilton
Dilated cardiomyopathy (DCM) is characterized by dilation and impaired contraction of the left ventricle or both ventricles. Among hereditary DCM, the genetic causes are heterogeneous, and include mutations encoding cytoskeletal, nucleoskeletal, mitochondrial, and calcium-handling proteins. We report three severely affected males, in a four-generation pedigree, with DCM phenotype who underwent cardiac transplant. Cardiomegaly with marked biventricular dilation and fibrosis were noticeable histopathological findings...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211264/genetics-diagnosis-and-clinical-features-of-congenital-hypodysfibrinogenaemia-a-systematic-literature-review-and-report-of-a-novel-mutation
#6
A Casini, T Brungs, C Lavenu-Bombled, R Vilar, M Neerman-Arbez, P de Moerloose
BACKGROUND: Hypodysfibrinogenaemia is a rare disease characterised by decreased levels of a dysfunctional fibrinogen. It shares features with both hypo- and dysfibrinogenaemia, although with specific molecular patterns and clinical phenotypes. OBJECTIVES: To better define the genetics, the diagnosis and the clinical features of hypodysfibrinogenaemia. PATIENTS/METHODS: A systematic literature search led to 167 records. After removal of duplicates, abstract screening and full-text reviewing, 56 molecular and/or clinical studies were analysed, including a novel FGB missense mutation in a woman with a mild bleeding phenotype...
February 16, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28211200/the-interrelation-between-hypothyroidism-and-glaucoma-a-critical-review-and-meta-analyses
#7
REVIEW
Marianne Thvilum, Frans Brandt, Thomas Heiberg Brix, Laszlo Hegedüs
Data on the association between hypothyroidism and glaucoma are conflicting. We sought to shed light on this by conducting a critical review and meta-analyses. The meta-analyses were conducted in adherence with the widely accepted MOOSE guidelines. Using the Medical Subject Heading (MeSH) terms: hypothyroidism, myxoedema and glaucoma or intraocular pressure, case-control studies, cohort studies and cross-sectional studies were identified (PubMed) and reviewed. Using meta-analysis, the relative risk (RR) of coexistence of glaucoma and hypothyroidism was calculated...
February 16, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28210865/the-impact-of-melanoma-genetics-on-treatment-response-and-resistance-in-clinical-and-experimental-studies
#8
M Kunz, M Hölzel
Recent attempts to characterize the melanoma mutational landscape using high-throughput sequencing technologies have identified new genes and pathways involved in the molecular pathogenesis of melanoma. Apart from mutated BRAF, NRAS, and KIT, a series of new recurrently mutated candidate genes with impact on signaling pathways have been identified such as NF1, PTEN, IDH1, RAC1, ARID2, and TP53. Under targeted treatment using BRAF and MEK1/2 inhibitors either alone or in combination, a majority of patients experience recurrences, which are due to different genetic mechanisms such as gene amplifications of BRAF or NRAS, MEK1/2 and PI3K mutations...
February 16, 2017: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/28209900/dna-damage-is-a-pervasive-cause-of-sequencing-errors-directly-confounding-variant-identification
#9
Lixin Chen, Pingfang Liu, Thomas C Evans, Laurence M Ettwiller
Mutations in somatic cells generate a heterogeneous genomic population and may result in serious medical conditions. Although cancer is typically associated with somatic variations, advances in DNA sequencing indicate that cell-specific variants affect a number of phenotypes and pathologies. Here, we show that mutagenic damage accounts for the majority of the erroneous identification of variants with low to moderate (1 to 5%) frequency. More important, we found signatures of damage in most sequencing data sets in widely used resources, including the 1000 Genomes Project and The Cancer Genome Atlas, establishing damage as a pervasive cause of sequencing errors...
February 17, 2017: Science
https://www.readbyqxmd.com/read/28209619/lapatinib-resistance-in-breast-cancer-cells-is-accompanied-by-phosphorylation-mediated-reprogramming-of-glycolysis
#10
Benjamin Ruprecht, Esther A Zaal, Jana Zecha, Wei Wu, Celia R Berkers, Bernhard Kuster, Simone Lemeer
HER2/ERBB2-overexpressing breast cancers targeted effectively by the small molecule kinase inhibitor lapatinib frequently acquire resistance to this drug. In this study, we employed explorative mass spectrometry to profile proteomic, kinomic, and phosphoproteomic changes in an established model of lapatinib resistance to systematically investigate initial inhibitor response and subsequent reprogramming in resistance. The resulting dataset, which collectively contains quantitative data for >7,800 proteins, >300 protein kinases and >15,000 phosphopeptides, enabled deep insight into signaling recovery and molecular reprogramming upon resistance...
February 16, 2017: Cancer Research
https://www.readbyqxmd.com/read/28209183/variants-in-congenital-hypogonadotrophic-hypogonadism-genes-identified-in-an-indonesian-cohort-of-46-xy-under-virilised-boys
#11
Katie L Ayers, Aurore Bouty, Gorjana Robevska, Jocelyn A van den Bergen, Achmad Zulfa Juniarto, Nurin Aisyiyah Listyasari, Andrew H Sinclair, Sultana M H Faradz
BACKGROUND: Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of gonadotrophin-releasing hormone (GnRH) is often responsible. Various genes, many of which play a role in the development and function of the GnRH neurons, have been implicated in these disorders. Clinically, CHH and KS are heterogeneous; however, in 46,XY patients, they can be characterised by under-virilisation phenotypes such as cryptorchidism and micropenis or delayed puberty...
February 16, 2017: Human Genomics
https://www.readbyqxmd.com/read/28209166/intra-tumor-heterogeneity-from-a-cancer-stem-cell-perspective
#12
REVIEW
Pramudita R Prasetyanti, Jan Paul Medema
Tumor heterogeneity represents an ongoing challenge in the field of cancer therapy. Heterogeneity is evident between cancers from different patients (inter-tumor heterogeneity) and within a single tumor (intra-tumor heterogeneity). The latter includes phenotypic diversity such as cell surface markers, (epi)genetic abnormality, growth rate, apoptosis and other hallmarks of cancer that eventually drive disease progression and treatment failure. Cancer stem cells (CSCs) have been put forward to be one of the determining factors that contribute to intra-tumor heterogeneity...
February 16, 2017: Molecular Cancer
https://www.readbyqxmd.com/read/28208582/nutrients-in-energy-and-one-carbon-metabolism-learning-from-metformin-users
#13
REVIEW
Fedra Luciano-Mateo, Anna Hernández-Aguilera, Noemi Cabre, Jordi Camps, Salvador Fernández-Arroyo, Jose Lopez-Miranda, Javier A Menendez, Jorge Joven
Metabolic vulnerability is associated with age-related diseases and concomitant co-morbidities, which include obesity, diabetes, atherosclerosis and cancer. Most of the health problems we face today come from excessive intake of nutrients and drugs mimicking dietary effects and dietary restriction are the most successful manipulations targeting age-related pathways. Phenotypic heterogeneity and individual response to metabolic stressors are closely related food intake. Understanding the complexity of the relationship between dietary provision and metabolic consequences in the long term might provide clinical strategies to improve healthspan...
February 10, 2017: Nutrients
https://www.readbyqxmd.com/read/28208285/determining-gender-by-raman-spectroscopy-of-a-bloodstain
#14
Aliaksandra Sikirzhytskaya, Vitali Sikirzhytski, Igor K Lednev
The development of novel methods for forensic science is a constantly growing area of modern analytical chemistry. Raman spectroscopy is one of a few analytical techniques capable of nondestructive and nearly instantaneous analysis of a wide variety of forensic evidence, including body fluid stains, at the scene of a crime. In this proof-of-concept study, Raman microspectroscopy was utilized for gender identification based on dry bloodstains. Raman spectra were acquired in mapping mode from multiple spots on a bloodstain to account for intrinsic sample heterogeneity...
February 7, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28208214/pathogenesis-of-enuresis-towards-a-new-understanding
#15
REVIEW
Tryggve Nevéus
Enuresis was historically viewed as a primarily psychiatric disorder, but this understanding has changed dramatically since the end of the last century, when it became clear that somatic factors, such as nocturnal polyuria as a result of vasopressin deficiency, nocturnal detrusor overactivity and high arousal thresholds, all play a crucial role in enuresis pathogenesis. It has also become clear that enuresis is inherited in the majority of cases, although the correlation between genotype and enuretic phenotype is not straightforward...
February 16, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28207492/international-collaboration-including-patients-is-essential-to-develop-new-therapies-for-patients-with-myositis
#16
Ingrid E Lundberg, Jiri Vencovsky
PURPOSE OF REVIEW: To discuss the needs for international collaborations between investigators in different disciplines working with myositis and with patients with myositis. RECENT FINDINGS: Recent advances in detection of several myositis-specific autoantibodies that are associated with distinct clinical phenotypes, will enable studies in new well defined clinically homogenous subgroups of myositis This is likely to lead to development of new information on molecular pathogenesis that might be different in different myositis subgroups...
February 15, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28205212/sarcoidosis-extent-relates-to-molecular-variability
#17
Calixte S Monast, Katherine Li, Marc A Judson, Robert P Baughman, Eric Wadman, Rosemary Watt, Philip E Silkoff, Elliot S Barnathan, Carrie Brodmerkel
The molecular basis of sarcoidosis phenotype heterogeneity and its relationship to effective treatment of sarcoidosis have not been elucidated. Peripheral samples from sarcoidosis subjects who participated in a phase 2 study of golimumab (anti-TNFα) and ustekinumab (anti-IL12p40) were used to measure the whole blood transcriptome and levels of serum proteins. Differential gene and protein expression analyses were used to explore the molecular differences between sarcoidosis phenotypes as defined by extent of organ involvement...
February 16, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28205047/pre-diagnosis-insulin-like-growth-factor-i-and-risk-of-epithelial-invasive-ovarian-cancer-by-histological-subtypes-a-collaborative-re-analysis-from-the-ovarian-cancer-cohort-consortium
#18
Jennifer Ose, Helena Schock, Elizabeth M Poole, Matti Lehtinen, Kala Visvanathan, Kathy Helzlsouer, Julie E Buring, I-Min Lee, Anne Tjønneland, Marie-Christine Boutron-Ruault, Antonia Trichopoulou, Amalia Mattiello, N Charlotte Onland-Moret, Elisabete Weiderpass, María-José Sánchez, Annika Idahl, Ruth C Travis, Sabina Rinaldi, Melissa A Merritt, Nicolas Wentzensen, Shelley S Tworoger, Rudolf Kaaks, Renée T Fortner
PURPOSE: Biologic evidence suggests that the Insulin-like growth factor (IGF)-family may be involved in the etiology of epithelial invasive ovarian cancer (EOC). However, prospective studies investigating the role of IGF-I in ovarian carcinogenesis have yielded conflicting results. METHODS: We pooled and harmonized data from 6 case-control studies nested within the Ovarian Cancer Cohort Consortium to investigate the association between pre-diagnosis IGF-I concentrations and subsequent risk of EOC...
February 16, 2017: Cancer Causes & Control: CCC
https://www.readbyqxmd.com/read/28205040/clinical-phenotyping-of-heart-failure-with-biomarkers-current-and-future-perspectives
#19
REVIEW
Vichai Senthong, Jennifer L Kirsop, W H Wilson Tang
INTRODUCTION: Heart failure (HF) is a complex clinical syndrome with diverse risk factors and etiologies, differing underlying pathophysiology, and large phenotypic heterogeneity. RECENT FINDINGS: Advances in imaging techniques coupled with clinical trials that targeted only in those with impaired left ventricular ejection fraction (LVEF) have largely shaped the current management strategy for HF that focuses predominantly in patients with systolic HF. In contrast, there are no effective treatments for HF with preserved ejection fraction (HFpEF)...
February 15, 2017: Current Heart Failure Reports
https://www.readbyqxmd.com/read/28205010/prion-specific-and-surrogate-csf-biomarkers-in-creutzfeldt-jakob-disease-diagnostic-accuracy-in-relation-to-molecular-subtypes-and-analysis-of-neuropathological-correlates-of-p-tau-and-a%C3%AE-42-levels
#20
Francesca Lattanzio, Samir Abu-Rumeileh, Alessia Franceschini, Hideaki Kai, Giulia Amore, Ilaria Poggiolini, Marcello Rossi, Simone Baiardi, Lynne McGuire, Anna Ladogana, Maurizio Pocchiari, Alison Green, Sabina Capellari, Piero Parchi
The differential diagnosis of Creutzfeldt-Jakob disease (CJD) from other, sometimes treatable, neurological disorders is challenging, owing to the wide phenotypic heterogeneity of the disease. Real-time quaking-induced prion conversion (RT-QuIC) is a novel ultrasensitive in vitro assay, which, at variance with surrogate neurodegenerative biomarker assays, specifically targets the pathological prion protein (PrP(Sc)). In the studies conducted to date in CJD, cerebrospinal fluid (CSF) RT-QuIC showed good diagnostic sensitivity (82-96%) and virtually full specificity...
February 15, 2017: Acta Neuropathologica
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