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https://www.readbyqxmd.com/read/29783100/cd133-cells-derived-from-skeletal-muscles-of-duchenne-muscular-dystrophy-patients-have-a-compromised-myogenic-and-muscle-regenerative-capability
#1
Jinhong Meng, Francesco Muntoni, Jennifer Morgan
Cell-mediated gene therapy is a possible means to treat muscular dystrophies like Duchenne muscular dystrophy. Autologous patient stem cells can be genetically-corrected and transplanted back into the patient, without causing immunorejection problems. Regenerated muscle fibres derived from these cells will express the missing dystrophin protein, thus improving muscle function. CD133+ cells derived from normal human skeletal muscle contribute to regenerated muscle fibres and form muscle stem cells after their intra-muscular transplantation into an immunodeficient mouse model...
May 12, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29782964/an-in-vitro-approach-for-prioritization-and-evaluation-of-chemical-effects-on-glucocorticoid-receptor-mediated-adipogenesis
#2
Jessica K Hartman, Tyler Beames, Bethany Parks, Daniel Doheny, Gina Song, Alina Efremenko, Miyoung Yoon, Briana Foley, Chad Deisenroth, Patrick D McMullen, Rebecca A Clewell
Rising obesity rates worldwide have socio-economic ramifications. While genetics, diet, and lack of exercise are major contributors to obesity, environmental factors may enhance susceptibility through disruption of hormone homeostasis and metabolic processes. The obesogen hypothesis contends that chemical exposure early in development may enhance adipocyte differentiation, thereby increasing the number of adipocytes and predisposing for obesity and metabolic disease. We previously developed a primary human adipose stem cell (hASC) assay to evaluate the effect of environmental chemicals on PPARG-dependent adipogenesis...
May 18, 2018: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29782695/dual-ag-zno-decorated-micro-nanoporous-sulfonated-polyetheretherketone-with-superior-antibacterial-capability-and-biocompatibility-via-layer-by-layer-self-assembly-strategy
#3
Yi Deng, Lei Yang, Xiaobing Huang, Junhong Chen, Xiuyuan Shi, Weizhong Yang, Min Hong, Yuan Wang, Matthew S Dargusch, Zhi-Gang Chen
Polyetheretherketone is attractive for dental and orthopedic applications due to its mechanical attributes close to that of human bone; however, the lack of antibacterial capability and bioactivity of polyetheretherketone has substantially impeded its clinical applications. Here, a dual therapy implant coating is developed on the 3D micro-/nanoporous sulfonated polyetheretherketone via layer-by-layer self-assembly of Ag ions and Zn ions. Material characterization studies have indicated that nanoparticles consisting of elemental Ag and ZnO are uniformly incorporated on the porous sulfonated polyetheretherketone surface...
May 21, 2018: Macromolecular Bioscience
https://www.readbyqxmd.com/read/29782246/precision-medicine-and-radiogenomics-in-breast-cancer-new-approaches-toward-diagnosis-and-treatment
#4
Katja Pinker, Joanne Chin, Amy N Melsaether, Elizabeth A Morris, Linda Moy
Precision medicine is medicine optimized to the genotypic and phenotypic characteristics of an individual and, when present, his or her disease. It has a host of targets, including genes and their transcripts, proteins, and metabolites. Studying precision medicine involves a systems biology approach that integrates mathematical modeling and biology genomics, transcriptomics, proteomics, and metabolomics. Moreover, precision medicine must consider not only the relatively static genetic codes of individuals, but also the dynamic and heterogeneous genetic codes of cancers...
June 2018: Radiology
https://www.readbyqxmd.com/read/29781421/molecular-phylogeny-based-on-six-nuclear-genes-suggests-that-echinococcus-granulosus-sensu-lato-genotypes-g6-g7-and-g8-g10-can-be-regarded-as-two-distinct-species
#5
Teivi Laurimäe, Liina Kinkar, Epp Moks, Thomas Romig, Rihab A Omer, Adriano Casulli, Gérald Umhang, Guna Bagrade, Malik Irshadullah, Mitra Sharbatkhori, Hossein Mirhendi, Francisco Ponce-Gordo, Silvia V Soriano, Antonio Varcasia, Mohammad Rostami-Nejad, Vanessa Andresiuk, Urmas Saarma
Tapeworms of the species complex of Echinococcus granulosus sensu lato (s. l.) are the cause of a severe zoonotic disease - cystic echinococcosis, which is listed among the most severe parasitic diseases in humans and is prioritized by the World Health Organization. A stable taxonomy of E. granulosus s. l. is essential to the medical and veterinary communities for accurate and effective communication of the role of different species in this complex on human and animal health. E. granulosus s. l. displays high genetic diversity and has been divided into different species and genotypes...
May 21, 2018: Parasitology
https://www.readbyqxmd.com/read/29781058/hammondia-sp-oocysts-shed-by-a-brazilian-fox-lycalopex-vetulus-differ-from-hammondia-heydorni-and-hammondia-triffittae
#6
Luís F P Gondim, Rodrigo M Soares, Silvia C Osaki, Alessandra Snak, Laura R Grillo, Nelson L M Fernandes, Anderson L de Carvalho
A Brazilian fox (Lycalopex vetulus) was rescued from a highway, and 16 days after maintained in captivity, the fox shed oocysts with sizes compatible with Hammondia sp. and Neospora caninum. DNA extracted from oocysts were initially tested in two PCRs targeting the internal transcribed spacer 1 (ITS-1) of the rDNA of Hammondia heydorni and the Nc-5 gene of N. caninum. A 270-bp product was visualized in the PCR for H. heydorni. No amplification was observed for N. caninum PCR. Since ITS-1-based PCR is not sufficient to differentiate Hammondia species derived from canids, oocyst DNA was examined using multilocus sequence analysis of five genetic fragments [intron 1 of the alpha tubulin gene (intron 1), internal transcribed spaces 1 and 2 (ITS-1 and ITS-2) of the rDNA, 28S rRNA gene (D2/D3 domain), and heat shock protein 70 (Hsp70)]...
May 21, 2018: Parasitology Research
https://www.readbyqxmd.com/read/29781024/the-owl-sensor-a-fragile-dna-nanostructure-for-the-analysis-of-single-nucleotide-variations
#7
Rebekah J Karadeema, Maria Stancescu, Tyler P Steidl, Sophia C Bertot, Dmitry M Kolpashchikov
Analysis of single nucleotide variations (SNVs) in DNA and RNA sequences is instrumental in healthcare for the detection of genetic and infectious diseases and drug-resistant pathogens. Here we took advantage of the developments in DNA nanotechnology to design a hybridization sensor, named the 'owl sensor', which produces a fluorescence signal only when it complexes with fully complementary DNA or RNA analytes. The novelty of the owl sensor operation is that the selectivity of analyte recognition is, at least in part, determined by the structural rigidity and stability of the entire DNA nanostructure rather than exclusively by the stability of the analyte-probe duplex, as is the case for conventional hybridization probes...
May 21, 2018: Nanoscale
https://www.readbyqxmd.com/read/29780943/longitudinal-ophthalmic-findings-in-a-child-with-helsmoortel-van-der-aa-syndrome
#8
Michael J Gale, Hope E Titus, Gareth A Harman, Talal Alabduljalil, Anna Dennis, Jenny L Wilson, David M Koeller, Erika Finanger, Peter A Blasco, Pei-Wen Chiang, Daniel J Karr, Paul Yang
Purpose: We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa Syndrome (HVDAS), including longitudinal follow-up and analysis. Observations: After extensive workup, a young child with poor visual behavior, hypotonic cerebral palsy, intellectual disability, and global developmental delay was found to have a heterozygous de novo mutation in the ADNP gene and diagnosed with HVDAS. Ophthalmic findings were remarkable for progressive nystagmus, macular pigment mottling, mild foveal hypoplasia with abnormal macular laminations, persistent rod dysfunction with electronegative waveform, and progressive cone degeneration...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29780795/a-novel-de-novo-mutation-in-the-cd40-ligand-gene-in-a-patient-with-a-mild-x-linked-hyper-igm-phenotype-initially-diagnosed-as-cvid-new-aspects-of-old-diseases
#9
Tábata T França, Luiz F B Leite, Tiago A Maximo, Christiane G Lambert, Nuria B Zurro, Wilma C N Forte, Antonio Condino-Neto
Mutations in the CD40 ligand (CD40L) gene ( CD40LG ) lead to X-linked hyper-IgM syndrome (X-HIGM), which is a primary immunodeficiency (PID) characterized by decreased serum levels of IgG and IgA and normal or elevated IgM levels. Although most X-HIGM patients become symptomatic during the first or second year of life, during which they exhibit recurrent infections, some patients exhibit mild phenotypes, which are usually associated with hypomorphic mutations that do not abrogate protein expression or function...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29780368/-salmonella-enterica-prophage-sequence-profiles-reflect-genome-diversity-and-can-be-used-for-high-discrimination-subtyping
#10
Walid Mottawea, Marc-Olivier Duceppe, Andrée A Dupras, Valentine Usongo, Julie Jeukens, Luca Freschi, Jean-Guillaume Emond-Rheault, Jeremie Hamel, Irena Kukavica-Ibrulj, Brian Boyle, Alexander Gill, Elton Burnett, Eelco Franz, Gitanjali Arya, Joel T Weadge, Samantha Gruenheid, Martin Wiedmann, Hongsheng Huang, France Daigle, Sylvain Moineau, Sadjia Bekal, Roger C Levesque, Lawrence D Goodridge, Dele Ogunremi
Non-typhoidal Salmonella is a leading cause of foodborne illness worldwide. Prompt and accurate identification of the sources of Salmonella responsible for disease outbreaks is crucial to minimize infections and eliminate ongoing sources of contamination. Current subtyping tools including single nucleotide polymorphism (SNP) typing may be inadequate, in some instances, to provide the required discrimination among epidemiologically unrelated Salmonella strains. Prophage genes represent the majority of the accessory genes in bacteria genomes and have potential to be used as high discrimination markers in Salmonella ...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29779902/molecular-genetics-and-metabolism-special-edition-diagnosis-diagnosis-and-prognosis-of-mucopolysaccharidosis-iva
#11
REVIEW
Hira Peracha, Kazuki Sawamoto, Lauren Averill, Heidi Kecskemethy, Mary Theroux, Mihir Thacker, Kyoko Nagao, Christian Pizarro, William Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is an autosomal recessive disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to the accumulation of specific glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate (KS), which are mainly synthesized in the cartilage. Therefore, the substrates are stored primarily in the cartilage and its extracellular matrix (ECM), leading to a direct impact on bone development and successive systemic skeletal spondylepiphyseal dysplasia...
May 15, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29779709/a-mutation-in-transcription-factor-mafb-causes-focal-segmental-glomerulosclerosis-with-duane-retraction-syndrome
#12
Yoshinori Sato, Hiroyasu Tsukaguchi, Hiroyuki Morita, Koichiro Higasa, Mai Thi Nhu Tran, Michito Hamada, Toshiaki Usui, Naoki Morito, Shoichiro Horita, Takao Hayashi, Junko Takagi, Izumi Yamaguchi, Huan Thanh Nguyen, Masayo Harada, Kiyoko Inui, Yuichi Maruta, Yoshihiko Inoue, Fumihiko Koiwa, Hiroshi Sato, Fumihiko Matsuda, Shinya Ayabe, Seiya Mizuno, Fumihiro Sugiyama, Satoru Takahashi, Ashio Yoshimura
Focal segmental glomerulosclerosis (FSGS) is a leading cause of end-stage renal disease in children and adults. Genetic factors significantly contribute to early-onset FSGS, but the etiologies of most adult cases remain unknown. Genetic studies of monogenic syndromic FSGS exhibiting extra-renal manifestations have uncovered an unexpected biological role for genes in the development of both podocytes and other cellular lineages. To help define these roles, we studied two unrelated families with FSGS associated with Duane Retraction Syndrome, characterized by impaired horizontal eye movement due to cranial nerve malformation...
May 17, 2018: Kidney International
https://www.readbyqxmd.com/read/29779563/association-of-polygenic-risk-scores-for-multiple-cancers-in-a-phenome-wide-study-results-from-the-michigan-genomics-initiative
#13
Lars G Fritsche, Stephen B Gruber, Zhenke Wu, Ellen M Schmidt, Matthew Zawistowski, Stephanie E Moser, Victoria M Blanc, Chad M Brummett, Sachin Kheterpal, Gonçalo R Abecasis, Bhramar Mukherjee
Health systems are stewards of patient electronic health record (EHR) data with extraordinarily rich depth and breadth, reflecting thousands of diagnoses and exposures. Measures of genomic variation integrated with EHRs offer a potential strategy to accurately stratify patients for risk profiling and discover new relationships between diagnoses and genomes. The objective of this study was to evaluate whether polygenic risk scores (PRS) for common cancers are associated with multiple phenotypes in a phenome-wide association study (PheWAS) conducted in 28,260 unrelated, genotyped patients of recent European ancestry who consented to participate in the Michigan Genomics Initiative, a longitudinal biorepository effort within Michigan Medicine...
May 17, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29779484/genetics-and-epigenetics-pathogenesis-of-beh%C3%A3-et-s-syndrome
#14
Jibran Sualeh Muhammad, Muhammad Ishaq, Khalid Ahmed
Behçet's syndrome (BS) is characterized numerous systemic manifestations, is known for its ability to affect both, arteries and the veins. However, the etiology of BS is only partially understood, and previous studies have demonstrated a role of genetic and epigenetic factors contributes to disease pathophysiology. Several studies have implicated the T cells and monocytes, especially when stimulated by seat shock proteins and streptococcal antigen. Furthermore, during disease exacerbations adenosine deaminase has an important role in lymphocyte proliferation, maturation, and differentiation, is activated in Behçet's syndrome...
May 20, 2018: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/29779155/prioritising-risk-factors-for-type-2-diabetes-causal-inference-through-genetic-approaches
#15
REVIEW
Laura B L Wittemans, Luca A Lotta, Claudia Langenberg
PURPOSE OF THE REVIEW: Causality has been demonstrated for few of the many putative risk factors for type 2 diabetes (T2D) emerging from observational epidemiology. Genetic approaches are increasingly being used to infer causality, and in this review, we discuss how genetic discoveries have shaped our understanding of the causal role of factors associated with T2D. RECENT FINDINGS: Genetic discoveries have led to the identification of novel potential aetiological factors of T2D, including the protective role of peripheral fat storage capacity and specific metabolic pathways, such as the branched-chain amino acid breakdown...
May 19, 2018: Current Diabetes Reports
https://www.readbyqxmd.com/read/29779147/promicromonospora-viridis-sp-nov-a-novel-actinomycete-isolated-from-soil
#16
Liying Jin, Junwei Zhao, Shanwen Jiang, Yang Zhao, Xiaoyang Han, Xiaowei Guo, Xiangjing Wang, Wensheng Xiang
Two Gram-stain positive, aerobic actinomycete strains, designated NEAU-JGR1T and NEAU-JGC41, were isolated from soil collected from Fairy Lake Botanical Garden in Shenzhen, Guangdong Province, south of China. The 16S rRNA gene sequences analysis showed that the two strains exhibited 99.5% 16S rRNA gene sequence similarity with each other and were closely related to Promicromonospora thailandica JCM 17130T (99.4, 99.3%) and Promicromonospora citrea DSM 43110T (99.2, 99.2%). Phylogenetic analysis based on the 16S rRNA gene sequences indicated that the two strains clustered together and formed a cluster with P...
May 19, 2018: Antonie Van Leeuwenhoek
https://www.readbyqxmd.com/read/29779125/genetic-diversity-and-structure-of-a-rare-endemic-cactus-and-an-assessment-of-its-genetic-relationship-with-a-more-common-congener
#17
Niraj Rayamajhi, Jyotsna Sharma
Endemic, obligate outcrossing plant species with narrow geographic distributions and disjunct populations are prone to loss of genetic diversity. Simultaneously, delineating clear species boundaries is important for targeted conservation efforts. The rare and endemic cactus, Sclerocactus brevihamatus subsp. tobuschii (SBT), has a parapatric relationship with Sclerocactus brevihamatus subsp. brevihamatus (SBB) but genetic distance between the two taxa is unknown. We: (1) developed taxon-specific polymorphic microsatellites, (2) assessed genetic diversity within and among nine populations of SBT, and within one population of SBB, and (3) estimated the genetic relationship between the two subspecies...
May 19, 2018: Genetica
https://www.readbyqxmd.com/read/29779018/common-and-unique-transcriptional-responses-to-dietary-restriction-and-loss-of-insulin-receptor-substrate-1-irs1-in-mice
#18
Melissa M Page, Eugene F Schuster, Manikhandan Mudaliar, Pawel Herzyk, Dominic J Withers, Colin Selman
Dietary restriction (DR) is the most widely studied non-genetic intervention capable of extending lifespan across multiple taxa. Modulation of genes, primarily within the insulin/insulin-like growth factor signalling (IIS) and the mechanistic target of rapamycin (mTOR) signalling pathways also act to extend lifespan in model organisms. For example, mice lacking insulin receptor substrate-1 (IRS1) are long-lived and protected against several age-associated pathologies. However, it remains unclear how these particular interventions act mechanistically to produce their beneficial effects...
May 20, 2018: Aging
https://www.readbyqxmd.com/read/29778978/tough-love-accommodating-intracellular-bacteria-through-directed-secretion-of-antimicrobial-peptides-during-the-nitrogen-fixing-symbiosis
#19
REVIEW
Christina Stonoha-Arther, Dong Wang
The symbiosis formed by nitrogen-fixing bacteria with plant hosts mainly in the legume family involves a very intimate interaction. Within the symbiotic organ (the nodule) the bacteria are fully internalized by the host cell to become an intracellular organelle surrounded by a host-derived membrane. This arrangement is probably necessary for the efficient provision of energy and the sequestration of free oxygen molecules, two conditions required for sustained nitrogen fixation. Recent advances made in model legume species, such as Medicago truncatula, are beginning to uncover the genetic components allowing rhizobia to access the host cytoplasm and establish chronic intracellular infections without overt detrimental effects...
May 17, 2018: Current Opinion in Plant Biology
https://www.readbyqxmd.com/read/29778975/establishment-of-an-integration-free-induced-pluripotent-stem-cell-line-musii005-a-from-exfoliated-renal-epithelial-cells
#20
Bootsakorn Boonkaew, Weeradee Thummavichit, Ratchapong Netsrithong, Chinnavuth Vatanashevanopakorn, Kovit Pattanapanyasat, Methichit Wattanapanitch
Human induced pluripotent stem cells (iPSCs) were generated from exfoliated renal epithelial cells isolated from a urine sample of a 31-year-old healthy woman. Epithelial cells were characterized for the expression of E-cadherin and reprogrammed using non-integrating Sendai viral vectors. The urine-derived iPSC line (designated as MUSIi005-A) was karyotypically normal, expressed pluripotent markers, differentiated into cells of three embryonic germ layers, and showed no viral and transgene expressions at passage 29...
May 16, 2018: Stem Cell Research
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