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https://www.readbyqxmd.com/read/28109190/qtl-mapping-and-candidate-genes-for-resistance-to-fusarium-ear-rot-and-fumonisin-contamination-in-maize
#1
Valentina Maschietto, Cinzia Colombi, Raul Pirona, Giorgio Pea, Francesco Strozzi, Adriano Marocco, Laura Rossini, Alessandra Lanubile
BACKGROUND: Fusarium verticillioides is a common maize pathogen causing ear rot (FER) and contamination of the grains with the fumonisin B1 (FB1) mycotoxin. Resistance to FER and FB1 contamination are quantitative traits, affected by environmental conditions, and completely resistant maize genotypes to the pathogen are so far unknown. In order to uncover genomic regions associated to reduced FER and FB1 contamination and identify molecular markers for assisted selection, an F2:3 population of 188 progenies was developed crossing CO441 (resistant) and CO354 (susceptible) genotypes...
January 21, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/28109013/investigation-of-genetic-defects-in-severe-combined-immunodeficiency-patients-from-turkey-by-targeted-sequencing
#2
Baran Erman, Ivan Bilic, Tatjana Hirschmugl, Elisabeth Salzer, Heidrun Boztug, Özden Sanal, Deniz Çağdaş Ayvaz, Ilhan Tezcan, Kaan Boztug
Primary immunodeficiencies (PIDs) represent a large group of disorders with an increased susceptibility to infections. Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiencies (PIDs) with marked T-cell lymphopenia. Investigation of the genetic etiology using classical Sanger sequencing is associated with considerable diagnostic delay. We here established a custom-designed, next generation sequencing-based panel to efficiently identify disease-causing genetic defects in PID patients and applied this method in SCID patients of Turkish origin with previously undefined genetic etiology...
January 21, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28109005/the-mboat7-variant-rs641738-increases-inflammation-and-fibrosis-in-chronic-hepatitis-b
#3
Khaled Thabet, Henry Lik Yuen Chan, Salvatore Petta, Alessandra Mangia, Thomas Berg, Andre Boonstra, Willem P Brouwer, Maria Lorena Abate, Vincent Wai-Sun Wong, Maiiada Nazmy, Janett Fischer, Christopher Liddle, Jacob George, Mohammed Eslam
Chronic hepatitis B (CHB) is characterized by hepatic inflammation that promotes progression to cirrhosis and predisposes to the development of hepatocellular carcinoma (HCC). Subtle inter-individual genetic variation, viral and environmental factors interact to determine the disease progression between individuals. Recently, the rs641738 Membrane Bound O-Acyltransferase Domain Containing 7 (MBOAT7) polymorphism was demonstrated to influence histological liver damage in alcoholic liver disease, nonalcoholic fatty liver disease and hepatitis C, but no data are available for CHB...
January 20, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28108859/the-arc-gene-confers-genetic-susceptibility-to-alzheimer-s-disease-in-han-chinese
#4
Rui Bi, Li-Li Kong, Min Xu, Guo-Dong Li, Deng-Feng Zhang, Tao Li, Yiru Fang, Chen Zhang, Buchang Zhang, Yong-Gang Yao
Alzheimer's disease (AD) is the most common form of dementia. The deposition of β-amyloid (Aβ) plaques in the brain was considered one of the main neuropathological hallmarks of AD. As the loss of synapses always occurs during AD progression, AD has been gradually regarded as a "synaptopathy." The activity-regulated cytoskeleton-associated protein (Arc) was recently identified as a key factor for AD due to its active roles in synaptic plasticity, learning, memory, and Aβ generation. However, there is little evidence to support the association of the Arc gene with AD...
January 20, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28108847/airway-mucus-inflammation-and-remodeling-emerging-links-in-the-pathogenesis-of-chronic-lung-diseases
#5
REVIEW
Zhe Zhou-Suckow, Julia Duerr, Matthias Hagner, Raman Agrawal, Marcus A Mall
Airway mucus obstruction is a hallmark of many chronic lung diseases including rare genetic disorders such as cystic fibrosis (CF) and primary ciliary dyskinesia, as well as common lung diseases such as asthma and chronic obstructive pulmonary disease (COPD), which have emerged as a leading cause of morbidity and mortality worldwide. However, the role of excess airway mucus in the in vivo pathogenesis of these diseases remains poorly understood. The generation of mice with airway-specific overexpression of epithelial Na(+) channels (ENaC), exhibiting airway surface dehydration (mucus hyperconcentration), impaired mucociliary clearance (MCC) and mucus plugging, led to a model of muco-obstructive lung disease that shares key features of CF and COPD...
January 20, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28108845/liver-involvement-in-congenital-disorders-of-glycosylation-cdg-a-systematic-review-of-the-literature
#6
REVIEW
D Marques-da-Silva, V Dos Reis Ferreira, M Monticelli, P Janeiro, P A Videira, P Witters, J Jaeken, D Cassiman
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases caused by defects in glycosylation. Nearly 100 CDG types are known so far. Patients present a great phenotypic diversity ranging from poly- to mono-organ/system involvement and from very mild to extremely severe presentation. In this literature review, we summarize the liver involvement reported in CDG patients. Although liver involvement is present in only a minority of the reported CDG types (22 %), it can be debilitating or even life-threatening...
January 20, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28108744/increased-breast-cancer-risk-with-habp1-p32-gc1qr-genetic-polymorphism-rs2285747-and-its-upregulation-in-northern-chinese-women
#7
Yongdong Jiang, Hao Wu, Jing Liu, Yanbo Chen, Jingjing Xie, Yashuang Zhao, Da Pang
OBJECT: Hyaluronic acid binding protein 1 (HABP1/p32/gC1qR) is overexpressed in breast cancer. However, it is unknown whether HABP1 gene polymorphisms affect breast cancer risk. This study aims to evaluate the potential association of single nucleotide polymorphisms (SNPs) of HABP1 with breast cancer in northern Chinese women. RESULTS: The minor allele of rs2285747 was strongly associated with breast cancer with OR of 1.553 (95% CI = 1.251-1.927). SNP rs2285747 was also associated with high HABP1 protein expression under the co-dominant and dominant model (p = 0...
January 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/28108555/immune-dysregulation-may-contribute-to-disease-pathogenesis-in-spinal-muscular-atrophy-mice
#8
Marc-Olivier Deguise, Yves De Repentigny, Emily McFall, Nicole Auclair, Subash Sad, Rashmi Kothary
Spinal muscular atrophy (SMA) has long been solely considered a neurodegenerative disorder. However, recent work has highlighted defects in many other cell types that could contribute to disease aetiology. Interestingly, the immune system has never been extensively studied in SMA. Defects in lymphoid organs could exacerbate disease progression by neuroinflammation or immunodeficiency. Smn depletion led to severe alterations in the thymus and spleen of two different mouse models of SMA. The spleen from Smn depleted mice was dramatically smaller at a very young age and its histological architecture was marked by mislocalization of immune cells in the Smn(2B/-) model mice...
January 19, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28108534/cell-biology-and-pathophysiology-of-%C3%AE-synuclein
#9
Jacqueline Burré, Manu Sharma, Thomas C Südhof
α-Synuclein is an abundant neuronal protein that is highly enriched in presynaptic nerve terminals. Genetics and neuropathology studies link α-synuclein to Parkinson's disease (PD) and other neurodegenerative disorders. Accumulation of misfolded oligomers and larger aggregates of α-synuclein defines multiple neurodegenerative diseases called synucleinopathies, but the mechanisms by which α-synuclein acts in neurodegeneration are unknown. Moreover, the normal cellular function of α-synuclein remains debated...
January 20, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/28108320/modulation-on-brain-gray-matter-activity-and-white-matter-integrity-by-apoe-%C3%AE%C2%B54-risk-gene-in-cognitively-intact-elderly-a-multimodal-neuroimaging-study
#10
Suping Cai, Yuanyuan Jiang, Yubo Wang, Xiaoming Wu, Junchan Ren, Min Seob Lee, Sunghoon Lee, Liyu Huang
Apolipoprotein E (APOE) ε4 allele is the genetic risk factor with the most established evidence for sporadic Alzheimer's disease. Previous neuroimaging studies have demonstrated insufficiently consistent functional and structural changes among healthy APOE ε4 carriers when compared to non-carriers. Here, in a cognitively intact elderly group (a total of 110: 45 APOE ε4 carriers, 65 non-carriers), we aimed to investigate the potential role of APOE ε4 in the modulation of grey matter activity, white matter integrity, and brain morphology before the development of clinically significant symptoms and signs, by methods of: amplitude of low frequency fluctuations and regional homogeneity analysis based on resting state fMRI, and fiber tractography approach based on diffusion tensor imaging...
January 17, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28108290/pmp22-mutant-allele-specific-sirna-alleviates-demyelinating-neuropathic-phenotype-in-vivo
#11
Ji-Su Lee, Eun Hyuk Chang, Ok Jae Koo, Dong Hwan Jwa, Won Min Mo, Geon Kwak, Hyo Won Moon, Hwan Tae Park, Young Bin Hong, Byung-Ok Choi
Charcot-Marie-Tooth disease (CMT) is a genetic disorder that can be caused by aberrations in >80 genes. CMT has heterogeneous modes of inheritance, including autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive. Over 95% of cases are dominantly inherited. In this study, we investigated whether regulation of a mutant allele by an allele-specific small interfering RNA (siRNA) can alleviate the demyelinating neuropathic phenotype of CMT. We designed 19 different allele-specific siRNAs for Trembler J (Tr-J) mice harboring a naturally occurring mutation (Leu16Pro) in Pmp22...
January 17, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28108246/engineered-cell-lines-for-fish-health-research
#12
Bertrand Collet, Catherine Collins, Katherine Lester
As fish farming continues to increase worldwide, the related research areas of fish disease and immunology are also expanding, aided by the revolution in access to genomic information and molecular technology. The genomes of most fish species of economic importance are now available and annotation based on sequence homology with characterised genomes is underway. However, while useful, functional homology is more difficult to determine, there being a lack of widely distributed and well characterised reagents such as monoclonal antibodies, traditionally used in mammalian studies, to help with confirming functions and cellular interactions of fish molecules...
January 17, 2017: Developmental and Comparative Immunology
https://www.readbyqxmd.com/read/28108235/the-use-of-bacteriophages-to-biocontrol-oral-biofilms
#13
Szymon P Szafrański, Andreas Winkel, Meike Stiesch
Infections induced by oral biofilms include caries, as well as periodontal, and peri-implant disease, and may influence quality of life, systemic health, and expenditure. As bacterial biofilms are highly resistant and resilient to conventional antibacterial therapy, it has been difficult to combat these infections. An innovative alternative to the biocontrol of oral biofilms could be to use bacteriophages or phages, the viruses of bacteria, which are specific, non-toxic, self-proliferating, and can penetrate into biofilms...
January 17, 2017: Journal of Biotechnology
https://www.readbyqxmd.com/read/28108186/editing-the-trypanosoma-cruzi-genome-with-zinc-finger-nucleases
#14
Gabriela Assis Burle-Caldas, Viviane Grazielle-Silva, Melissa Soares-Simões, Gabriela Schumann Burkard, Isabel Roditi, Wanderson Duarte DaRocha, Santuza M Teixeira
Gene function studies in Trypanosoma cruzi, the protozoan parasite that causes Chagas disease, have been hindered by the lack of efficient genetic manipulation protocols. In most organisms, insertion and deletion of DNA fragments in the genome are dependent on the generation of double-stranded DNA break (DSB) and repair. By inducing a site-specific DSB, zinc finger nucleases (ZFNs) have proven to be useful to enhance gene editing in many cell types. Using a pair of ZFNs targeted to the T. cruzi gp72 gene, we were able to generate gp72 knockout parasites with improved efficiency compared to the conventional gene knockout protocol...
January 17, 2017: Molecular and Biochemical Parasitology
https://www.readbyqxmd.com/read/28108048/bullous-pseudobullous-pustular-dermatoses
#15
Mark R Wick
Several dermatoses are typified by the formation of spaces (blisters; bullae) within or beneath the epidermis. These may be acellular or filled with particular species of inflammatory cells. Etiological categories include infectious, immune-mediated, genetic, drug-related, and idiopathic lesions. Examples of such disorders include impetigo, Herpes virus infections, pemphigus, bullous pemphigoid and pemphigoid gestationis, epidermolysis bullosa acquisita, IgA-related dermatoses, inherited epidermolysis bullosa variants, Hailey-Hailey disease, and porphyria cutanea tarda...
December 14, 2016: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28108040/genetic-analysis-of-chchd2-and-chchd10-in-italian-patients-with-parkinson-s-disease
#16
Elisa Rubino, Livia Brusa, Ming Zhang, Silvia Boschi, Flora Govone, Alessandro Vacca, Annalisa Gai, Lorenzo Pinessi, Leonardo Lopiano, Ekaterina Rogaeva, Innocenzo Rainero
In recent years, CHCHD2 and CHCHD10 mutations were reported to be associated with a broad spectrum of neurodegenerative diseases, including Parkinson's disease (PD), although with conflicting results in different populations. The present study aimed to evaluate CHCHD2 and CHCHD10 coding variants in Italian patients with PD. All the coding regions and flanking intronic splice sites of CHCHD2 and CHCHD10 were sequenced. None of our 119 PD cases carried CHCHD2 mutations, whereas 1 sporadic PD patient showed the Pro34Ser substitution in CHCHD10...
January 5, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28108025/viral-induced-suppression-of-self-reactive-t-cells-lessons-from-neurotropic-coronavirus-induced-demyelination
#17
REVIEW
Carine Savarin, Cornelia C Bergmann
Genetic and environmental factors, i.e. infections, have been proposed to contribute to disease induction and relapsing events in multiple sclerosis (MS), an autoimmune demyelinating disease of the central nervous system (CNS). While research has mainly focused on virus associated autoimmune activation, less is known about prevention of autoimmunity, especially following resolving infections associated with CNS tissue damage. This review discusses novel insights on control of self-reactive (SR) T cells activated during neurotropic coronavirus-induced demyelination...
January 11, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28107834/a-label-free-colorimetric-isothermal-cascade-amplification-for-the-detection-of-disease-related-nucleic-acids-based-on-double-hairpin-molecular-beacon
#18
Dong Wu, Huo Xu, Haimei Shi, Weihong Li, Mengze Sun, Zai-Sheng Wu
K-Ras mutations at codon 12 play an important role in an early step of carcinogenesis. Here, a label-free colorimetric isothermal cascade amplification for ultrasensitive and specific detection of K-Ras point mutation is developed based on a double-hairpin molecular beacon (DHMB). The biosensor consists of DHMB probe and a primer-incorporated polymerization template (PPT) designed partly complementary to DHMB. In the presence of polymerase, target DNA is designed to trigger strand displacement amplification (SDA) via promote the hybridization of PPT with DHMB and subsequently initiates cascade amplification process with the help of the nicking endonuclease...
March 8, 2017: Analytica Chimica Acta
https://www.readbyqxmd.com/read/28107592/psoriasis-and-palmoplantar-pustulosis-an-endless-debate
#19
Alexandra Maria Giovanna Brunasso, Cesare Massone
Since 2007, palmoplantar pustulosis (PPP) has been classified as a separate entity and not a clinical variant of psoriasis despite the presence of certain phenotypes common in both diseases.(1) We read with interest the review by Misiak-Galazka et al., and we found that even after the extensive work (inclusion of 65 articles), some relevant data are missing.(1-3) The clue question remains the following: Is palmoplantar pustulosis (PPP) closely related to psoriasis or is PPP a separate condition? Herein we will systematically review the literature searching for frequency of psoriasis in PPP patients and we will discuss new genetic insights that connect PPP and psoriasis vulgaris...
January 20, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28107502/rnai-based-functional-genomics-identifies-new-virulence-determinants-in-mucormycosis
#20
Trung Anh Trieu, María Isabel Navarro-Mendoza, Carlos Pérez-Arques, Marta Sanchis, Javier Capilla, Patricia Navarro-Rodriguez, Loida Lopez-Fernandez, Santiago Torres-Martínez, Victoriano Garre, Rosa María Ruiz-Vázquez, Francisco E Nicolás
Mucorales are an emerging group of human pathogens that are responsible for the lethal disease mucormycosis. Unfortunately, functional studies on the genetic factors behind the virulence of these organisms are hampered by their limited genetic tractability, since they are reluctant to classical genetic tools like transposable elements or gene mapping. Here, we describe an RNAi-based functional genomic platform that allows the identification of new virulence factors through a forward genetic approach firstly described in Mucorales...
January 20, 2017: PLoS Pathogens
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