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https://www.readbyqxmd.com/read/29913238/the-sensitive-detection-of-ivsii-1-g%C3%AB-a-mutation-in-beta-globin-gene-using-a-nano-based-ligation-genotyping-system
#1
Somaye Heidari Sharafdarkolaee, Majid Motovali-Bashi, Pooria Gill
Beta-thalassemia (β-thalassemia) is a globally genetic diseases, and is most prevalent in the Middle East, particularly in Iran. Carrier detection and prenatal diagnosis are the best ways to managing it, and to prevent new community cases from emerging. We report on a simple method for rapid detection of the worst β-thalassemia point mutation in Iran (IVS-II-1 G>A), using a nano-based ligation assay, this was performed using probes with labeled magnetic nanoparticles and quantum dots. After optimizing the technique, 50 DNA samples were genotyped with this method...
June 15, 2018: Gene
https://www.readbyqxmd.com/read/29913182/the-genetic-architecture-of-type-1-diabetes-mellitus
#2
REVIEW
Denis M Nyaga, Mark H Vickers, Craig Jefferies, Jo K Perry, Justin M O'Sullivan
Type 1 diabetes mellitus (T1D) is a complex autoimmune disorder characterised by loss of the insulin-producing pancreatic beta cells in genetically predisposed individuals, ultimately resulting in insulin deficiency and hyperglycaemia. T1D is most common among children and young adults, and the incidence is on the rise across the world. The aetiology of T1D is hypothesized to involve genetic and environmental factors that result in the T-cell mediated destruction of pancreatic beta cells. There is a strong genetic risk to T1D; with genome-wide association studies (GWAS) identifying over 60 susceptibility regions within the human genome which are marked by single nucleotide polymorphisms (SNPs)...
June 15, 2018: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/29913039/regulatory-t-cells-from-allo-to-xenotransplantation-opportunities-and-challenges
#3
REVIEW
Mohamed B Ezzelarab
Regulatory T cells (Treg) are currently being evaluated in clinical allotransplantation for tolerance induction, with proven safety in humans with autoimmune diseases and graft-versus-host disease. A considerable amount of recent data suggests that additional factors may need to be validated, including the stability and commitment of newly discovered Treg subsets under inflammatory conditions, to further warrant safe and effective Treg-based therapeutic approaches. This review explores the opportunities and challenges of Treg-based cell therapy in xenotransplantation...
May 2018: Xenotransplantation
https://www.readbyqxmd.com/read/29912912/new-insights-into-the-genetic-diversity-of-leishmania-rna-virus-1-and-its-species-specific-relationship-with-leishmania-parasites
#4
Lilian Motta Cantanhêde, Flavia Gonçalves Fernandes, Gabriel Eduardo Melim Ferreira, Renato Porrozzi, Ricardo de Godoi Mattos Ferreira, Elisa Cupolillo
Cutaneous leishmaniasis is a neglected parasitic disease that manifests in infected individuals under different phenotypes, with a range of factors contributing to its broad clinical spectrum. One factor, Leishmania RNA Virus 1 (LRV1), has been described as an endosymbiont present in different species of Leishmania. LRV1 significantly worsens the lesion, exacerbating the immune response in both experimentally infected animals and infected individuals. Little is known about the composition and genetic diversity of these viruses...
2018: PloS One
https://www.readbyqxmd.com/read/29912909/unravelling-the-pathogenic-role-and-genotype-phenotype-correlation-of-the-ush2a-p-cys759phe-variant-among-spanish-families
#5
Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, Gema García-García, Elena Aller, Blanca García-Sandoval, Pablo Mínguez, Marta Corton, Ignacio Mahíllo-Fernández, Inmaculada Martín-Mérida, Almudena Avila-Fernández, José M Millán, Carmen Ayuso
INTRODUCTION: Mutations in USH2A cause both isolated Retinitis Pigmentosa (RP) and Usher syndrome (that implies RP and hearing impairment). One of the most frequent variants identified in this gene and among these patients is the p.(Cys759Phe) change. However, the pathogenic role of this allele has been questioned since it was found in homozygosity in two healthy siblings of a Spanish family. To assess the causative role of USH2A p.(Cys759Phe) in autosomal recessive RP (ARRP) and Usher syndrome type II (USH2) and to establish possible genotype-phenotype correlations associated with p...
2018: PloS One
https://www.readbyqxmd.com/read/29912900/hla-class-iii-a-susceptibility-region-to-systemic-lupus-erythematosus-in-tunisian-population
#6
Hend Hachicha, Nadia Mahfoudh, Hajer Fourati, Nesrine Elloumi, Sameh Marzouk, Sawsan Feki, Raouia Fakhfakh, Faten Frikha, Abir Ayadi, Amira Maatoug, Lilia Gaddour, Feiza Hakim, Zouheir Bahloul, Hafedh Makni, Hatem Masmoudi, Arwa Kammoun
BACKGROUND AND OBJECTIVES: Short tandem repeats (STR) are usually used as informative polymorphic markers for genetic mapping and for disease susceptibility analysis. The involvement of these microsatellite markers localized in the MHC region was reported in many auto-immune diseases. In this study we analyzed for the first time eight polymorphisms of microsatellite loci at the HLA region: D6S291, D6S273, TNFa, b and c, MICA, D6S265 and D6S276, in Tunisian systemic lupus erythematosus (SLE) patients...
2018: PloS One
https://www.readbyqxmd.com/read/29912868/the-protective-capacity-of-high-payload-fmdv-a22-irq-vaccine-in-sheep-against-direct-contact-challenge-with-a-heterologous-contemporary-fmdv-a-strain-from-south-east-asia
#7
Jacquelyn Horsington, Charles Nfon, Hilary Bittner, Peter A Durr, Nagendrakumar Singanallur, Soren Alexandersen, Wilna Vosloo
Foot-and-mouth disease (FMD) is an acute, highly contagious viral disease of domestic and wild cloven-hoofed animals, caused by FMD virus (FMDV). An FMD outbreak can cause major production losses and have significant implications for trade. Vaccination can assist in controlling the disease, and emergency vaccination using high antigen payload vaccines (>6 PD50/dose) is considered an important control approach in the event of an outbreak. In recent years there has been a divergence of serotype A viruses in South East Asia (SEA) into several distinct genetic and antigenic clusters...
2018: PloS One
https://www.readbyqxmd.com/read/29912712/reemergence-of-reston-ebolavirus-in-cynomolgus-monkeys-the-philippines-2015
#8
Catalino Demetria, Ina Smith, Titus Tan, Daniel Villarico, Edson Michael Simon, Rex Centeno, Mary Tachedjian, Satoshi Taniguchi, Masayuki Shimojima, Noel Lee J Miranda, Mary Elizabeth Miranda, Melissa Marie R Rondina, Rowena Capistrano, Amado Tandoc, Glenn Marsh, Debbie Eagles, Ramses Cruz, Shuetsu Fukushi
In August 2015, a nonhuman primate facility south of Manila, the Philippines, noted unusual deaths of 6 cynomolgus monkeys (Macaca fascicularis), characterized by generalized rashes, inappetence, or sudden death. We identified Reston ebolavirus (RESTV) infection in monkeys by using serologic and molecular assays. We isolated viruses in tissues from infected monkeys and determined viral genome sequences. RESTV found in the 2015 outbreak is genetically closer to 1 of the 4 RESTVs that caused the 2008 outbreak among swine...
July 2018: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/29912706/virus-rna-load-in-patients-with-tick-borne-encephalitis-slovenia
#9
Ana Saksida, Nina Jakopin, Mateja Jelovšek, Nataša Knap, Luka Fajs, Lara Lusa, Stanka Lotrič-Furlan, Petra Bogovič, Maja Arnež, Franc Strle, Tatjana Avšič-Županc
We determined levels of tick-borne encephalitis (TBE) virus (TBEV) RNA in serum samples obtained from 80 patients during the initial phase of TBE in Slovenia. For most samples, levels were within the range of 3-6 log10 copies RNA/mL. Levels were higher in female patients than in male patients, but we found no association between virus load and several laboratory and clinical parameters, including severity of TBE. However, a weak humoral immune response was associated with a more severe disease course, suggesting that inefficient clearance of virus results in a more serious illness...
July 2018: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/29912591/optical-coherence-tomography-oct-study-in-argentinean-huntington-s-disease-patients
#10
Emilia Gatto, Virginia Parisi, Gabriel Persi, Estela Fernandez Rey, Martin Cesarini, José Luis Etcheverry, Pablo Rivera, Ferdinando Squitieri
BACKGROUND: Huntington's disease (HD) is a genetic, rare and progressive neurodegenerative disorder that causes motor and cognitive impairment in midlife patients. Although retinal damage was observed in animal HD models and in patients with other neurodegenerative diseases, we still need confirmation of impairment in HD patients. Optical Coherence Tomography (OCT) is a non-invasive methodology that analyzes the retinal nerve fiber layers (RNFL) and could reflect processes of neurodegeneration...
June 18, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29912582/biomarkers-of-aggressiveness-in-genitourinary-tumors-with-emphasis-on-kidney-bladder-and-prostate-cancer
#11
Alessia Cimadamore, Silvia Gasparrini, Matteo Santoni, Liang Cheng, Antonio Lopez-Beltran, Nicola Battelli, Francesco Massari, Francesca Giunchi, Michelangelo Fiorentino, Marina Scarpelli, Rodolfo Montironi
Over the last decade, the improvement in molecular techniques and the acquisition of genomic information has transformed and increased the quality of patient care and our knowledge of diseases. Areas covered: Protein expression levels in immunohistochemistry and molecular biomarkers are reported for their ability to predict recurrence, progression, development of metastases, or patient survival. In particular, for renal cell carcinoma, we take into consideration the biomarkers applicable to immunohistochemistry and with molecular and genetic analyses...
June 18, 2018: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29912575/racialized-risk-in-clinical-care-clinician-vigilance-and-patient-responsibility
#12
Hannah S Bell, Funmi Odumosu, Anna C Martinez-Hume, Heather A Howard, Linda M Hunt
Racial/ethnic identity is contingent and arbitrary, yet it is commonly used to evaluate disease risk and treatment response. Drawing on open-ended interviews with patients and clinicians in two US clinics, we explore how racialized risk is conceptualized and how it impacts patient care and experience. We found that racial/ethnic risk was a common but poorly defined construct for both patients and clinicians, who intermingled concepts of genetics, biology, behavior, and culture, while disregarding historical or structural context...
June 18, 2018: Medical Anthropology
https://www.readbyqxmd.com/read/29912560/computational-modeling-and-validation-of-thermally-induced-electrical-capacitance-changes-for-lipid-bilayer-membranes-irradiated-by-pulsed-lasers
#13
Zahra Ebtehaj, Ali Hatef, Mohammad Malekmohammad, Mahmood Soltanolkotabi
Neural stimulation has widespread applications in investigating brain functions, restoring impaired neural functions and treating numerous neurological/psychiatric diseases. Using infrared pulses to stimulate neurons (Infrared Neural Stimulation, INS) offers a direct and noninvasive technique. Recent research has demonstrated that transient heating associated with the absorption of infrared light by the local aqueous medium around the cell membrane can stimulate nerves. One mechanism for this stimulation is due to a thermally induced increase in the membrane electrical capacitance which causes cell depolarization as well as action potential production under certain physiological conditions...
June 18, 2018: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/29912393/a-plausibly-causal-functional-lupus-associated-risk-variant-in-the-stat1-stat4-locus
#14
Zubin Patel, Xiaoming Lu, Daniel Miller, Carmy R Forney, Joshua Lee, Arthur Lynch, Connor Schroeder, Lois Parks, Albert F Magnusen, Xiaoting Chen, Mario Pujato, Avery Maddox, Erin E Zoller, Bahram Namjou, Hermine I Brunner, Michael Henrickson, Jennifer L Huggins, Adrienne H Williams, Julie T Ziegler, Mary E Comeau, Miranda C Marion, Stuart B Glenn, Adam Adler, Nan Shen, Swapan K Nath, Anne M Stevens, Barry I Freedman, Bernardo A Pons-Estel, Betty P Tsao, Chaim O Jacob, Diane L Kamen, Elizabeth E Brown, Gary S Gilkeson, Graciela S Alarcón, Javier Martin, John D Reveille, Juan-Manuel Anaya, Judith A James, Kathy L Sivils, Lindsey A Criswell, Luis M Vilá, Michelle Petri, R Hal Scofield, Robert P Kimberly, Jeffrey C Edberg, Rosalind Ramsey-Goldman, So-Young Bang, Hye-Soon Lee, Sang-Cheol Bae, Susan A Boackle, Deborah Cunninghame Graham, Timothy J Vyse, Joan T Merrill, Timothy B Niewold, Hannah C Ainsworth, Earl D Silverman, Michael H Weisman, Daniel J Wallace, Prithvi Raj, Joel M Guthridge, Patrick M Gaffney, Jennifer A Kelly, Marta E Alarcón-Riquelme, Carl D Langefeld, Edward K Wakeland, Kenneth M Kaufman, Matthew T Weirauch, John B Harley, Leah C Kottyan
Systemic Lupus Erythematosus (SLE or lupus) (OMIM: 152700) is a chronic autoimmune disease with debilitating inflammation that affects multiple organ systems. The STAT1-STAT4 locus is one of the first and most highly-replicated genetic loci associated with lupus risk. We performed a fine-mapping study to identify plausible causal variants within the STAT1-STAT4 locus associated with increased lupus disease risk. Using complementary frequentist and Bayesian approaches in trans-ancestral Discovery and Replication cohorts, we found one variant whose association with lupus risk is supported across ancestries in both the Discovery and Replication cohorts: rs11889341...
April 18, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29912365/tisan-estimating-tissue-specific-effects-of-coding-and-noncoding-variants
#15
Kévin Vervier, Jacob J Michaelson
Motivation: Model-based estimates of general deleteriousness, like CADD, DANN or PolyPhen, have become indispensable tools in the interpretation of genetic variants. However, these approaches say little about the tissues in which the effects of deleterious variants will be most meaningful. Tissue-specific annotations have been recently inferred for dozens of tissues/cell types from large collections of cross-tissue epigenomic data, and have demonstrated sensitivity in predicting affected tissues in complex traits...
April 18, 2018: Bioinformatics
https://www.readbyqxmd.com/read/29912308/metabolic-changes-in-hypertrophic-cardiomyopathies-scientific-update-from-the-working-group-of-myocardial-function-of-the-european-society-of-cardiology
#16
Jolanda van der Velden, Carlo Gabriele Tocchetti, Gilda Varricchi, Anna Bianco, Vasco Sequeira, Denise Hilfiker-Kleiner, Nazha Hamdani, Adelino Leite-Moreira, Manuel Mayr, Ines Falcão-Pires, Thomas Thum, Dana K Dawson, Jean-Luc Balligand, Stephane Heymans
Disturbed metabolism as a consequence of obesity and diabetes may cause cardiac diseases (recently highlighted in the CVR spotlight issue on Metabolic cardiomyopathies).1 In turn, the metabolism of the heart may also be disturbed in genetic and acquired forms of hypertrophic cardiac disease. Here, we provide an overview of recent insights on metabolic changes in genetic hypertrophic cardiomyopathy (HCM) and discuss several therapies which may be explored to target disturbed metabolism and prevent onset of cardiac hypertrophy...
June 15, 2018: Cardiovascular Research
https://www.readbyqxmd.com/read/29912235/-peripartum-cardiomyopathy-a-little-known-disease
#17
Angela Beatrice Scardovi, Renata De Maria
Peripartum cardiomyopathy (PPCM) is a relatively rare cardiac disease that manifests itself in the final stage of pregnancy and in the first months after delivery in women with no previous history of cardiovascular disease. The incidence of PPCM varies widely across geographic areas and seems to be on the rise as a result of increased awareness and socioeconomic changes. PPCM recognizes a still partially undefined multifactorial etiology. Various pathogenetic hypotheses have been proposed, that range from autoimmune mechanisms to myocarditis to the hormonal hypothesis for aberrant, antiangiogenic and cardiotoxic prolactin (PRL) production, apoptosis, prolonged exposure to tocolytic drugs, malnutrition and genetic predisposition...
April 2018: Giornale Italiano di Cardiologia
https://www.readbyqxmd.com/read/29912186/generation-of-scaffold-free-three-dimensional-insulin-expressing-pancreatoids-from-mouse-pancreatic-progenitors-in-vitro
#18
Marissa A Scavuzzo, Jessica Teaw, Diane Yang, Malgorzata Borowiak
The pancreas is a complex organ composed of many different cell types that work together to regulate blood glucose homeostasis and digestion. These cell types include enzyme-secreting acinar cells, an arborized ductal system responsible for the transportation of enzymes to the gut, and hormone-producing endocrine cells. Endocrine beta-cells are the sole cell type in the body that produce insulin to lower blood glucose levels. Diabetes, a disease characterized by a loss or the dysfunction of beta-cells, is reaching epidemic proportions...
June 2, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29912168/efficient-transduction-and-expansion-of-ovine-macrophages-for-gene-therapy-implementations
#19
Garyfalia Karponi, Spyridon Kritas, Evanthia Petridou, Eleni Papanikolaou
A number of bacteria provoking zoonotic diseases present intracellular survival and a host cell tropism limited to the monocyte/macrophage lineage. Thus, infection is rendered difficult to eradicate, causing chronic inflammatory reactions to the host and widespread prevalence. Although self-inactivating lentiviral vectors have been successfully tested in the clinic against virally-induced human infectious diseases, little is known about the transduction susceptibility of ruminant animal phagocytes that play a critical role in the outbreak of zoonotic diseases such as brucellosis...
June 18, 2018: Veterinary Sciences
https://www.readbyqxmd.com/read/29912021/update-on-the-genetics-of-nonbacterial-osteomyelitis-in-humans
#20
Allison J Cox, Polly J Ferguson
PURPOSE OF REVIEW: To summarize the current advances in our understanding or the genetic basis of nonbacterial osteomyelitis. RECENT FINDINGS: Chronic recurrent multifocal osteomyelitis (CRMO) is a complex genetic disorder. Past discoveries identified several single gene defects (LPIN2, Pstpip2 and IL1RN) that cause IL-1-mediated sterile multifocal osteomyelitis. Recently Lorden et al.'s studies show that LIPIN2 deficiency can activate the NLRP3 inflammasome through alterations in the function of P2X7 receptor providing evidence that Majeed syndrome is an NLRP3 inflammasomopathy...
June 13, 2018: Current Opinion in Rheumatology
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