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Phenotypic heterogeneity

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https://www.readbyqxmd.com/read/29909142/what-does-not-kill-a-tumour-may-make-it-stronger-in-silico-insights-into-chemotherapeutic-drug-resistance
#1
Sara Hamis, Perumal Nithiarasu, Gibin G Powathil
Tumour recurrence post chemotherapy is an established clinical problem and many cancer types are often observed to be increasingly drug resistant subsequent to chemotherapy treatments. Drug resistance in cancer is a multipart phenomenon which can be derived from several origins and in many cases it has been observed that cancer cells have the ability to possess, acquire and communicate drug resistant traits. Here, an in silico framework is developed in order to study drug resistance and drug response in cancer cell populations exhibiting various drug resistant features...
June 14, 2018: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/29907799/utility-and-limitations-of-exome-sequencing-as-a-genetic-diagnostic-tool-for-children-with-hearing-loss
#2
Sarah Sheppard, Sawona Biswas, Mindy H Li, Vijayakumar Jayaraman, Ian Slack, Edward J Romasko, Ariella Sasson, Joshua Brunton, Ramakrishnan Rajagopalan, Mahdi Sarmady, Jenica L Abrudan, Sowmya Jairam, Elizabeth T DeChene, Xiahoan Ying, Jiwon Choi, Alisha Wilkens, Sarah E Raible, Maria I Scarano, Avni Santani, Jeffrey W Pennington, Minjie Luo, Laura K Conlin, Batsal Devkota, Matthew C Dulik, Nancy B Spinner, Ian D Krantz
PURPOSE: Hearing loss (HL) is the most common sensory disorder in children. Prompt molecular diagnosis may guide screening and management, especially in syndromic cases when HL is the single presenting feature. Exome sequencing (ES) is an appealing diagnostic tool for HL as the genetic causes are highly heterogeneous. METHODS: ES was performed on a prospective cohort of 43 probands with HL. Sequence data were analyzed for primary and secondary findings. Capture and coverage analysis was performed for genes and variants associated with HL...
June 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29907094/severe-renal-fanconi-and-management-strategies-in-arthrogryposis-renal-dysfunction-cholestasis-syndrome-a-case-report
#3
Alejandra Rosales, Maissa Mhibik, Paul Gissen, Oscar Segarra, Susana Redecillas, Gema Ariceta
BACKGROUND: Arthrogryposis-Renal dysfunction-Cholestasis syndrome (ARC, MIM#208085) is a rare multisystem disease due to mutations in the VPS33B and VIPAR genes, both involved in maintaining apical-basolateral cell polarity. The correlation between mutations and phenotype in the ARC Syndrome is not well described. We report on a 6 year old patient who presented with severe renal Fanconi as first manifestation of ARC related to a combined de novo mutation in the VPS33B gene. CASE PRESENTATION: A 6 year old girl presented during the first year of life with severe renal Fanconi as the first manifestation of ARC-Syndrome...
June 15, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29906612/nad-and-sirtuins-in-retinal-degenerative-diseases-a-look-at-future-therapies
#4
REVIEW
Jonathan B Lin, Rajendra S Apte
Retinal degenerative diseases are a major cause of morbidity in modern society because visual impairment significantly decreases the quality of life of patients. A significant challenge in treating retinal degenerative diseases is their genetic and phenotypic heterogeneity. However, despite this diversity, many of these diseases share a common endpoint involving death of light-sensitive photoreceptors. Identifying common pathogenic mechanisms that contribute to photoreceptor death in these diverse diseases may lead to a unifying therapy for multiple retinal diseases that would be highly innovative and address a great clinical need...
June 12, 2018: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29905851/immune-regulation-by-cd169-macrophages
#5
Kenichi Asano, Kenta Kikuchi, Masato Tanaka
Tissue macrophages comprise heterogeneous subsets that differ in localization, phenotype, and ontogeny. They acquire tissue-specific phenotype in order to maintain normal tissue physiology. This review summarizes the current knowledge about the functions of CD169-positive macrophage subset residing in the lymphoid organs and intestinal tract. Strategically positioned at the interface between tissue and circulating fluid, CD169+ macrophages in the lymphoid organs capture blood- and lymph-borne particulate materials...
June 14, 2018: Journal of Biochemistry
https://www.readbyqxmd.com/read/29905636/phenotypes-of-thyroid-eye-disease
#6
Jimmy M Uddin, Tal Rubinstein, Shirin Hamed-Azzam
PURPOSE: To describe a new classification system of thyroid eye disease (TED) based on the phenotypic features (clinical and radiologic) of the disease. METHODS: Clinical features, photographic, and orbital imaging of TED patients were considered in relation to their natural history and treatment response in the experience of the author. Phenotypically distinct categories of patients were identified and described. RESULTS: Six phenotypes of TED are observed: 1) congestive (active inflammatory), 2) "white eye" expansion, 3) "hydraulic" apex, 4) "white eye" apex, 5) cicatricial active, and 6) cicatricial passive...
June 13, 2018: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29905377/red-blood-cell-adhesion-to-heme-activated-endothelial-cells-reflects-clinical-phenotype-in-sickle-cell-disease
#7
Erdem Kucukal, Anton Ilich, Nigel S Key, Jane A Little, Umut A Gurkan
In sickle cell disease (SCD), 'disease severity' associates with increased RBC adhesion to quiescent endothelium, but the impact on activated endothelium is not known. Increased concentrations of free heme result from intravascular hemolysis in SCD. Heme is essential for aerobic metabolism, and plays an important role in numerous biological processes. Excess free heme induces reactive oxygen species generation and endothelial activation, which are associated with cardiovascular disorders including atherosclerosis, hypertension, and thrombosis...
June 15, 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29904576/genomics-of-autism-spectrum-disorder-approach-to-therapy
#8
REVIEW
Fatma Ayhan, Genevieve Konopka
Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental condition with no current treatment available. Although advances in genetics and genomics have identified hundreds of genes associated with ASD, very little is known about the pathophysiology of ASD and the functional contribution of specific genes to ASD phenotypes. Improved understanding of the biological function of ASD-associated genes and how this heterogeneous group of genetic variants leads to the disease is needed in order to develop therapeutic strategies...
2018: F1000Research
https://www.readbyqxmd.com/read/29904177/phenotypic-spectrum-of-au-kline-syndrome-a-report-of-six-new-cases-and-review-of-the-literature
#9
P Y Billie Au, Caitlin Goedhart, Marcia Ferguson, Jeroen Breckpot, Koenraad Devriendt, Klaas Wierenga, Elizabeth Fanning, Dorothy K Grange, Gail E Graham, Carolina Galarreta, Marilyn C Jones, Usha Kini, Helen Stewart, Jillian S Parboosingh, Antonie D Kline, A Micheil Innes
Au-Kline syndrome (AKS, OMIM 616580) is a multiple malformation syndrome, first reported in 2015, associated with intellectual disability. AKS has been associated with de novo loss-of-function variants in HNRNPK (heterogeneous ribonucleoprotein K), and to date, only four of these patients have been described in the literature. Recently, an additional patient with a missense variant in HNRNPK was also reported. These patients have striking facial dysmorphic features, including long palpebral fissures, ptosis, deeply grooved tongue, broad nose, and down-turned mouth...
June 14, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29903764/inferior-survival-in-high-grade-b-cell-lymphoma-with-myc-and-bcl2-and-or-bcl6-rearrangements-is-not-associated-with-myc-ig-gene-rearrangements
#10
Ellen D McPhail, Matthew J Maurer, William R Macon, Andrew L Feldman, Paul J Kurtin, Rhett P Ketterling, Rakhee Vaidya, James R Cerhan, Stephen M Ansell, Luis F Porrata, Grzegorz S Nowakowski, Thomas E Witzig, Thomas M Habermann
High-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements (double-/triple-hit lymphoma) has an aggressive clinical course. We investigated prognostic value of transformation from low-grade lymphoma, cytologic features (high grade versus large cell), MYC gene rearrangement partners (immunoglobulin versus nonimmunoglobulin gene), and treatment. We evaluated 100 adults with double-/triple-hit lymphoma, reviewing cytologic features; cell of origin; and rearrangements of MYC, BCL2, and BCL6 using MYC, BCL2, and BCL6 break-apart and IGH/MYC, IGL/MYC, IGK/MYC, and IGH/BCL2 dual-fusion interphase fluorescence in situ hybridization probes...
June 14, 2018: Haematologica
https://www.readbyqxmd.com/read/29903031/what-s-new-in-pontocerebellar-hypoplasia-an-update-on-genes-and-subtypes
#11
REVIEW
Tessa van Dijk, Frank Baas, Peter G Barth, Bwee Tien Poll-The
BACKGROUND: Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of neurodegenerative disorders mainly with a prenatal onset. Patients have severe hypoplasia or atrophy of cerebellum and pons, with variable involvement of supratentorial structures, motor and cognitive impairments. Based on distinct clinical features and genetic causes, current classification comprises 11 types of PCH. MAIN TEXT: In this review we describe the clinical, neuroradiological and genetic characteristics of the different PCH subtypes, summarize the differential diagnosis and reflect on potential disease mechanisms in PCH...
June 15, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29902076/quantitative-magnetic-resonance-imaging-and-radiogenomic-biomarkers-for-gliomas-characterisation-a-systematic-review
#12
Pohchoo Seow, Jeannie Hsiu Ding Wong, Azlina Ahmad Annuar, Abhishek Mahajan, Nor Aniza Abdullah, Norlisah Ramli
  The diversity of tumour characteristics among glioma patients, even within same tumour grade, is a big challenge for disease outcome prediction. A possible approach for improved radiological imaging could come from combining information obtained at molecular level. This review assembles recent evidence highlighting the value of using radiogenomic biomarkers to infer underlying biology of gliomas and correlation with imaging features.  Methods:  Literature search was done for articles published between 2002 and 2017 on Medline electronic databases...
June 14, 2018: British Journal of Radiology
https://www.readbyqxmd.com/read/29901133/molecular-analysis-of-cypriot-families-with-aniridia-reveals-a-novel-pax6-mutation
#13
Andreas Syrimis, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Michael Nicolaou, Eleni Loukianou, Carolina Sismani, Stavros Malas, Violetta Christophidou-Anastasiadou, George A Tanteles
The present study investigated the clinical and mutational spectrum of aniridia in a cohort of 17 affected individuals from six families from Cyprus. Each proband was initially evaluated for copy number variants at the PAX6 locus and subsequently underwent PAX6 mutation screening. Sequence analysis of FOXC1 and PITX2 was performed in patients who did not carry a PAX6 mutation. The most common clinical features in the group of aniridia patients associated with aniridia were nystagmus, cataracts and glaucoma...
June 5, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29900047/immunosuppressive-activity-of-tumor-infiltrating-myeloid-cells-in-patients-with-meningioma
#14
Laura Pinton, Samantha Solito, Elena Masetto, Marina Vettore, Stefania Canè, Alessandro Della Puppa, Susanna Mandruzzato
Meningiomas WHO grade I and II are common intracranial tumors in adults that normally display a benign outcome, but are characterized by a great clinical heterogeneity and frequent recurrence of the disease. Although the presence of an immune cell infiltrate has been documented in these tumors, a clear phenotypical and functional characterization of the immune web is missing. Here, we performed an extensive immunophenotyping of peripheral blood and fresh tumor tissue at surgery by multiparametric flow cytometry in 34 meningioma patients, along with immunosuppressive activity of sorted cells of myeloid origin...
2018: Oncoimmunology
https://www.readbyqxmd.com/read/29899867/triple-negative-breast-cancer-subtypes-and-pathologic-complete-response-rate-to-neoadjuvant-chemotherapy
#15
Angela Santonja, Alfonso Sánchez-Muñoz, Ana Lluch, Maria Rosario Chica-Parrado, Joan Albanell, José Ignacio Chacón, Silvia Antolín, José Manuel Jerez, Juan de la Haba, Vanessa de Luque, Cristina Elisabeth Fernández-De Sousa, Luis Vicioso, Yéssica Plata, César Luis Ramírez-Tortosa, Martina Álvarez, Casilda Llácer, Irene Zarcos-Pedrinaci, Eva Carrasco, Rosalía Caballero, Miguel Martín, Emilio Alba
Triple negative breast cancer (TNBC) is a heterogeneous disease with distinct molecular subtypes that differentially respond to chemotherapy and targeted agents. The purpose of this study is to explore the clinical relevance of Lehmann TNBC subtypes by identifying any differences in response to neoadjuvant chemotherapy among them. We determined Lehmann subtypes by gene expression profiling in paraffined pre-treatment tumor biopsies from 125 TNBC patients treated with neoadjuvant anthracyclines and/or taxanes +/- carboplatin...
May 29, 2018: Oncotarget
https://www.readbyqxmd.com/read/29899855/modeling-small-cell-lung-cancer-sclc-biology-through-deterministic-and-stochastic-mathematical-models
#16
REVIEW
Ravi Salgia, Isa Mambetsariev, Blake Hewelt, Srisairam Achuthan, Haiqing Li, Valeriy Poroyko, Yingyu Wang, Martin Sattler
Mathematical cancer models are immensely powerful tools that are based in part on the fractal nature of biological structures, such as the geometry of the lung. Cancers of the lung provide an opportune model to develop and apply algorithms that capture changes and disease phenotypes. We reviewed mathematical models that have been developed for biological sciences and applied them in the context of small cell lung cancer (SCLC) growth, mutational heterogeneity, and mechanisms of metastasis. The ultimate goal is to develop the stochastic and deterministic nature of this disease, to link this comprehensive set of tools back to its fractalness and to provide a platform for accurate biomarker development...
May 25, 2018: Oncotarget
https://www.readbyqxmd.com/read/29899725/long-term-effect-of-gpi-dbs-in-a-patient-with-generalized-dystonia-due-to-glut1-deficiency-syndrome
#17
Idil Hanci, Christoph Kamm, Marlieke Scholten, Lorenzo P Roncoroni, Yvonne Weber, Rejko Krüger, Christian Plewnia, Alireza Gharabaghi, Daniel Weiss
Treatment outcomes from pallidal deep brain stimulation are highly heterogeneous reflecting the phenotypic and etiologic spectrum of dystonia. Treatment stratification to neurostimulation therapy primarily relies on the phenotypic motor presentation; however, etiology including genetic factors are increasingly recognized as modifiers of treatment outcomes. Here, we describe a 53 year-old female patient with a progressive generalized dystonia since age 25. The patient underwent deep brain stimulation of the globus pallidus internus (GPi-DBS) at age 44...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29898899/linking-transcriptional-and-genetic-tumor-heterogeneity-through-allele-analysis-of-single-cell-rna-seq-data
#18
Jean Fan, Hae-Ock Lee, Soohyun Lee, Da-Eun Ryu, Semin Lee, Catherine Xue, Seok Jin Kim, Kihyun Kim, Nikolas Barkas, Peter J Park, Woong-Yang Park, Peter V Kharchenko
Characterization of intratumoral heterogeneity is critical to cancer therapy, as presence of phenotypically diverse cell populations commonly fuels relapse and resistance to treatment. Although genetic variation is a well-studied source of intratumoral heterogeneity, the functional impact of most genetic alterations remains unclear. Even less understood is the relative importance of other factors influencing heterogeneity, such as epigenetic state or tumor microenvironment. To investigate the relationship between genetic and transcriptional heterogeneity in a context of cancer progression, we devised a computational approach called HoneyBADGER to identify copy number variation and loss-of-heterozygosity in individual cells from single-cell RNA-sequencing data...
June 13, 2018: Genome Research
https://www.readbyqxmd.com/read/29898875/clinical-and-molecular-markers-in-copd
#19
I Gonçalves, M J Guimarães, M van Zeller, F Menezes, J Moita, P Simão
Chronic obstructive pulmonary disease (COPD) is a complex and heterogeneous disease, and there is a clinical need for validated markers and biomarkers that can contribute to the assessment of patients, risk prediction, treatment guidance, and assessment of response. Although according to the 2018 GOLD guidelines clinically useful biomarkers for COPD patients in stable condition have yet to be identified, several clinical markers and biomarkers have been proposed for COPD. These include isolated clinical markers, such as symptoms and Health Status assessment, exercise tests, function tests and imaging, and also composite scores and molecular markers...
June 10, 2018: Pulmonology
https://www.readbyqxmd.com/read/29898776/genetic-polymorphism-in-leishmania-infantum-isolates-from-human-and-animals-determined-by-nagt-pcr-rflp
#20
Adil El Hamouchi, Sofia El Kacem, Rajaa Ejghal, Meryem Lemrani
BACKGROUND: Leishmania infantum is the causative agent of human visceral leishmaniasis (VL) and sporadic human cutaneous leishmaniasis (CL) in the Mediterranean region. The genetic variation of the Leishmania parasites may result in different phenotypes that can be associated with the geographical distribution and diversity of the clinical manifestations. The main objective of this study was to explore the genetic polymorphism in L. infantum isolates from human and animal hosts in different regions of Morocco...
June 14, 2018: Infectious Diseases of Poverty
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