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https://www.readbyqxmd.com/read/28222538/vps35-the-retromer-complex-and-parkinson-s-disease
#1
Erin T Williams, Xi Chen, Darren J Moore
Mutations in the vacuolar protein sorting 35 ortholog (VPS35) gene encoding a core component of the retromer complex, have recently emerged as a new cause of late-onset, autosomal dominant familial Parkinson's disease (PD). A single missense mutation, AspD620Asn (D620N), has so far been unambiguously identified to cause PD in multiple individuals and families worldwide. The exact molecular mechanism(s) by which VPS35 mutations induce progressive neurodegeneration in PD are not yet known. Understanding these mechanisms, as well as the perturbed cellular pathways downstream of mutant VPS35, is important for the development of appropriate therapeutic strategies...
February 8, 2017: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/28222522/intranasal-insulin-transport-is-preserved-in%C3%A2-aged-samp8-mice-and-is-altered-by-albumin-and-insulin-receptor-inhibition
#2
Elizabeth M Rhea, Samantha R Humann, Surabhi Nirkhe, Susan A Farr, John E Morley, William A Banks
Insulin delivered to the level of the cribriform plate (intranasal insulin) is being investigated for its ability to enhance memory in people with Alzheimer's disease (AD). Recent work has shown intranasal insulin can be detected in young CD-1 mice within 5 min and is still present 60 min after injection. The current study determined whether intranasal insulin transport and the subsequent brain distribution of insulin varies in young, healthy mice (CD-1) compared to those with an AD-like phenotype (aged SAMP8) or those pre-disposed to develop such a phenotype (young SAMP8)...
February 10, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28222519/genetic-stratification-to-identify-risk-groups-for-alzheimer-s-disease
#3
Riccardo E Marioni, Archie Campbell, Saskia P Hagenaars, Reka Nagy, Carmen Amador, Caroline Hayward, David J Porteous, Peter M Visscher, Ian J Deary
Stratification by genetic risk factors for Alzheimer's disease (AD) may help identify groups with the greatest disease risk. Biological changes that cause late-onset AD are likely to occur years, if not decades prior to diagnosis. Here, we select a subset of the Generation Scotland: Scottish Family Health Study cohort in a likely preclinical age-range of 60-70 years (subset n = 3,495 with cognitive and genetic data). We test for cognitive differences by polygenic risk scores for AD. The polygenic scores are constructed using all available SNPs, excluding those within a 500 kb distance of the APOE locus...
February 10, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28222507/recent-progress-in-alzheimer-s-disease-research-part-1-pathology
#4
Francis T Hane, Brenda Y Lee, Zoya Leonenko
The field of Alzheimer's disease (AD) research has grown exponentially over the past few decades, especially since the isolation and identification of amyloid-β from postmortem examination of the brains of AD patients. Recently, the Journal of Alzheimer's Disease (JAD) put forth approximately 300 research reports which were deemed to be the most influential research reports in the field of AD since 2010. JAD readers were asked to vote on these most influential reports. In this 3-part review, we review the results of the 300 most influential AD research reports to provide JAD readers with a readily accessible, yet comprehensive review of the state of contemporary research...
February 10, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28222501/a-molecular-case-control-study-of-association-of-hnf1a-gene-polymorphisms-rs2259816-and-rs7310409-with-risk-of-coronary-artery-disease-in-iranian-patients
#5
Samaneh Adami Barzi, Sayyed Mohammad Hossein Ghaderian, Zahra Noormohammadi
BACKGROUND: Coronary artery disease (CAD) is the one of the most common heart diseases, being the main factor of mortality and morbidity worldwide. CAD has been known as a multifactorial disease and its progression depends on genetic and environmental factors. Numerous studies have shown evidence for association between 12q24.3 locus and CAD. OBJECTIVES: In the present study, the association of two HNF1A polymorphisms, rs2259816 and rs7310409, located on 12q24.3 locus with CAD was investigated in Iranian patients...
January 24, 2017: Human Antibodies
https://www.readbyqxmd.com/read/28222408/severe-osteoporosis-with-multiple-spontaneous-vertebral-fractures-in-a-young-male-carrying-triple-polymorphisms-in-the-vitamin-d-receptor-collagen-type-1-and-low-density-lipoprotein-receptor-related-peptide-5-genes
#6
Maria P Yavropoulou, Panagoulia Kollia, Dimitris Chatzidimitriou, Stavroula Samara, Lemonia Skoura, John G Yovos
: Osteoporosis is a common disease with a strong genetic component. Several studies have reported the vitamin D receptor (VDR), collagen type I (COL1A1), and LDL receptor-related protein 5 (LRP5) genes as the most likely candidates. However, most of the studies have been carried out in postmenopausal women and older men and show inconsistent results. CASE PRESENTATION: We report a case of a 26-year old male who presented with severe back pain of acute onset, unrelated to any kind of trauma, and diffuse myalgia...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28222301/impact-of-home-visit-capacity-on-genetic-association-studies-of-late-onset-alzheimer-s-disease
#7
David W Fardo, Laura E Gibbons, Shubhabrata Mukherjee, M Maria Glymour, Wayne McCormick, Susan M McCurry, James D Bowen, Eric B Larson, Paul K Crane
INTRODUCTION: Findings for genetic correlates of late-onset Alzheimer's disease (LOAD) in studies that rely solely on clinic visits may differ from those with capacity to follow participants unable to attend clinic visits. METHODS: We evaluated previously identified LOAD-risk single nucleotide variants in the prospective Adult Changes in Thought study, comparing hazard ratios (HRs) estimated using the full data set of both in-home and clinic visits (n = 1697) to HRs estimated using only data that were obtained from clinic visits (n = 1308)...
February 18, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/28222234/transcriptome-analysis-of-the-brassica-napus-leptosphaeria-maculans-pathosystem-identifies-receptor-signalling-and-structural-genes-underlying-plant-resistance
#8
Michael G Becker, Xuehua Zhang, Philip L Walker, Joey C Wan, Jenna L Millar, Deirdre Khan, Matthew J Granger, Jacob D Cavers, Ainsley C Chan, Dilantha W G Fernando, Mark F Belmonte
The hemibiotrophic fungal pathogen Leptosphaeria maculans is the causal agent of blackleg disease in Brassica napus (canola, oilseed rape) and causes significant yield loss worldwide. While genetic resistance has been used to mitigate the disease using traditional breeding strategies, there is little knowledge about the genes contributing to blackleg resistance. RNA sequencing and a streamlined bioinformatics pipeline identified unique genes and plant defense pathways specific to plant resistance in the B. napus-L...
February 21, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/28222229/leg-ulcers-caused-by-genetic-disease-prolidase-deficiency
#9
F Bertolini
I have just read the new guidelines for diagnostics and treatment of venus leg ulcers pubblished by the Journal of the European Academy of Dermatology and Venereology, 2016; 30: 1843-1875 (1), and I think that at this time it would be useful to also include leg ulcers caused by genetic disease "prolidase deficiency" in the differential diagnosis. This article is protected by copyright. All rights reserved.
February 21, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28222214/segregation-and-expression-analyses-of-habp2-insights-from-a-large-series-of-familial-non-medullary-thyroid-cancers-and-literature-review
#10
Carla Colombo, Marina Muzza, Maria Carla Proverbio, Giulia Ercoli, Michela Perrino, Valentina Cirello, Leonardo Vicentini, Stefano Ferrero, Laura Fugazzola
INTRODUCTION: Recently, the G534E variant of the HABP2 gene was reported as the underlying genetic defect in a large kindred with non-syndromic familial non medullary thyroid cancer (FNMTC). Nevertheless, this postulated role was not confirmed in additional cohorts. Contrasting data are also available on HABP2 expression in the thyroid. OBJECTIVES: To investigate HABP2 as a potential susceptibility gene in a large series of 27 unrelated families with FNMTC and to test its expression in thyroid tumor and matched normal tissues...
February 21, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28222201/linkage-and-mapping-of-quantitative-trait-loci-associated-with-angular-leaf-spot-and-powdery-mildew-resistance-in-common-beans
#11
Denis Bassi, Boris Briñez, Juliana Santa Rosa, Paula Rodrigues Oblessuc, Caléo Panhoca de Almeida, Stella Maris Nucci, Larissa Chariel Domingos da Silva, Alisson Fernando Chiorato, Rosana Pereira Vianello, Luis Eduardo Aranha Camargo, Matthew Wohlgemuth Blair, Luciana Lasry Benchimol-Reis
Angular leaf spot (ALS) and powdery mildew (PWM) are two important fungi diseases causing significant yield losses in common beans. In this study, a new genetic linkage map was constructed using single sequence repeats (SSRs) and single nucleotide polymorphisms (SNPs), in a segregating population derived from the AND 277 x SEA 5 cross, with 105 recombinant inbred lines. Phenotypic evaluations were performed in the greenhouse to identify quantitative trait loci (QTLs) associated with resistance by means of the composite interval mapping analysis...
February 20, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28222192/blastocystis-subtyping-and-its-association-with-intestinal-parasites-in-children-from-different-geographical-regions-of-colombia
#12
Juan David Ramírez, Carolina Flórez, Mario Olivera, María Consuelo Bernal, Julio Cesar Giraldo
Blastocystis is a common enteric protist colonizing probably more than 1 billion people with a large variety of non-human hosts. Remarkable genetic diversity has been observed, leading to the subdivision of the genus into multiple subtypes (ST), some of which are exclusively found in non-human hosts. The aim of this study was to determine the distribution of Blastocystis STs/18S alleles in symptomatic (abdominal pain, anal pruritus, diarrhea, headache, nauseas and/or vomit) and asymptomatic children from nine geographical regions of Colombia...
2017: PloS One
https://www.readbyqxmd.com/read/28222161/the-distinct-features-of-microbial-dysbiosis-of-crohn-s-disease-do-not-occur-to-the-same-extent-in-their-unaffected-genetically-linked-kindred
#13
Umer Zeeshan Ijaz, Christopher Quince, Laura Hanske, Nick Loman, Szymon T Calus, Martin Bertz, Christine A Edwards, Daniel R Gaya, Richard Hansen, Paraic McGrogan, Richard K Russell, Konstantinos Gerasimidis
BACKGROUND/AIMS: Studying the gut microbiota in unaffected relatives of people with Crohn's disease (CD) may advance our understanding of the role of bacteria in disease aetiology. METHODS: Faecal microbiota composition (16S rRNA gene sequencing), genetic functional capacity (shotgun metagenomics) and faecal short chain fatty acids (SCFA) were compared in unaffected adult relatives of CD children (CDR, n = 17) and adult healthy controls, unrelated to CD patients (HUC, n = 14)...
2017: PloS One
https://www.readbyqxmd.com/read/28222122/poor-replication-validity-of-biomedical-association-studies-reported-by-newspapers
#14
Estelle Dumas-Mallet, Andy Smith, Thomas Boraud, François Gonon
OBJECTIVE: To investigate the replication validity of biomedical association studies covered by newspapers. METHODS: We used a database of 4723 primary studies included in 306 meta-analysis articles. These studies associated a risk factor with a disease in three biomedical domains, psychiatry, neurology and four somatic diseases. They were classified into a lifestyle category (e.g. smoking) and a non-lifestyle category (e.g. genetic risk). Using the database Dow Jones Factiva, we investigated the newspaper coverage of each study...
2017: PloS One
https://www.readbyqxmd.com/read/28222105/stat3-cdc25a-dependent-cell-proliferation-promotes-embryonic-axis-extension-during-zebrafish-gastrulation
#15
Yinzi Liu, Diane S Sepich, Lilianna Solnica-Krezel
Cell proliferation has generally been considered dispensable for anteroposterior extension of embryonic axis during vertebrate gastrulation. Signal transducer and activator of transcription 3 (Stat3), a conserved controller of cell proliferation, survival and regeneration, is associated with human scoliosis, cancer and Hyper IgE Syndrome. Zebrafish Stat3 was proposed to govern convergence and extension gastrulation movements in part by promoting Wnt/Planar Cell Polarity (PCP) signaling, a conserved regulator of mediolaterally polarized cell behaviors...
February 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28222097/a-genome-wide-association-study-identifies-a-lncrna-as-risk-factor-for-pathological-inflammatory-responses-in-leprosy
#16
Vinicius M Fava, Jeremy Manry, Aurélie Cobat, Marianna Orlova, Nguyen Van Thuc, Milton O Moraes, Carolinne Sales-Marques, Mariane M A Stefani, Ana Carla P Latini, Andrea F Belone, Vu Hong Thai, Laurent Abel, Alexandre Alcaïs, Erwin Schurr
Leprosy Type-1 Reactions (T1Rs) are pathological inflammatory responses that afflict a sub-group of leprosy patients and result in peripheral nerve damage. Here, we employed a family-based GWAS in 221 families with 229 T1R-affect offspring with stepwise replication to identify risk factors for T1R. We discovered, replicated and validated T1R-specific associations with SNPs located in chromosome region 10p21.2. Combined analysis across the three independent samples resulted in strong evidence of association of rs1875147 with T1R (p = 4...
February 21, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28221925/genetic-diversity-and-antibiotic-resistance-of-escherichia-coli-isolates-from-different-leafy-green-production-systems
#17
Mosimanegape Jongman, Lise Korsten
Foodborne disease outbreaks linked to contaminated irrigation water and fresh produce are a public health concern. The presence of Escherichia coli isolates from irrigation water and leafy green vegetables in different food production systems (large commercial farms, small-scale farms, and homestead gardens) was investigated. The prevalence of antibiotic resistance and virulence in these isolates was further assessed, and links between water source and irrigated crops were identified using antimicrobial and genotypic analyses...
November 2016: Journal of Food Protection
https://www.readbyqxmd.com/read/28221916/characterization-and-antimicrobial-resistance-of-salmonella-typhimurium-isolates-from-clinically-diseased-pigs-in-korea
#18
Sang-Ik Oh, Jong Wan Kim, Myeongju Chae, Ji-A Jung, Byungjae So, Bumseok Kim, Ha-Young Kim
This study investigated the prevalence of Salmonella enterica serovar and antimicrobial resistance in Salmonella Typhimurium isolates from clinically diseased pigs collected from 2008 to 2014 in Korea. Isolates were also characterized according to the presence of antimicrobial resistance genes and pulsed-field gel electrophoresis patterns. Among 94 Salmonella isolates, 81 (86.2%) were identified as being of the Salmonella Typhimurium serotype, followed by Salmonella Derby (6 of 94, 6.4%), Salmonella 4,[5],12:i:- (4 of 94, 4...
November 2016: Journal of Food Protection
https://www.readbyqxmd.com/read/28221879/antimicrobial-susceptibility-and-molecular-typing-of-salmonella-senftenberg-isolated-from-humans-and-other-sources-in-shanghai-china-2005-to-2011
#19
Zeqiang Zhan, Dai Kuang, Ming Liao, Hongxia Zhang, Jingzhang Lu, Xueming Hu, Yulong Ye, Jianghong Meng, Xuebin Xu, Jianmin Zhang
Salmonella Senftenberg is an important nontyphoidal Salmonella serovar that causes gastrointestinal disease worldwide. In total, 130 Salmonella Senftenberg strains obtained from humans, food, and the environment in Shanghai, People's Republic of China, were characterized for antimicrobial susceptibility and subjected to molecular typing. Our findings indicated that most (96 of 130, 73.8%) of the strains were susceptible to all 13 antimicrobial compounds tested, whereas only two strains (1.5%) were resistant to two antimicrobial compounds...
January 2017: Journal of Food Protection
https://www.readbyqxmd.com/read/28221838/use-of-the-escherichia-coli-identification-microarray-for-characterizing-the-health-risks-of-shiga-toxin-producing-escherichia-coli-isolated-from-foods
#20
David W Lacher, Jayanthi Gangiredla, Isha Patel, Christopher A Elkins, Peter C H Feng
More than 470 serotypes of Shiga toxin-producing Escherichia coli (STEC) have been identified, but not all cause severe illness in humans. Most STEC that cause severe diseases can adhere to epithelial cells, produce specific stx subtypes, and belong to certain serotypes; therefore, these traits appear to be critical STEC risk factors. However, testing for these traits is labor intensive, and serotyping is inadequate because of extensive variations among E. coli O and H antigen types. In the present study, the E...
October 2016: Journal of Food Protection
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