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https://www.readbyqxmd.com/read/29245143/functionalization-of-protein-crystals-with-metal-ions-complexes-and-nanoparticles
#1
REVIEW
Satoshi Abe, Basudev Maity, Takafumi Ueno
Self-assembled proteins have specific functions in biology. With inspiration provided by natural protein systems, several artificial protein assemblies have been constructed via site-specific mutations or metal coordination, which have important applications in catalysis, material and bio-supramolecular chemistry. Similar to natural protein assemblies, protein crystals have been recognized as protein assemblies formed of densely-packed monomeric proteins. Protein crystals can be functionalized with metal ions, metal complexes or nanoparticles via soaking, co-crystallization, creating new metal binding sites by site-specific mutations...
December 12, 2017: Current Opinion in Chemical Biology
https://www.readbyqxmd.com/read/29245109/autosomal-recessive-hypercholesterolemia-in-spain
#2
Rosa María Sánchez-Hernández, Pablo Prieto-Matos, Fernando Civeira, Eduardo Esteve Lafuente, Manuel Frías Vargas, José T Real, Fernando Goñi Goicoechea, Francisco J Fuentes, Miguel Pocovi, Mauro Boronat, Ana María Wägner, Luis Masana
BACKGROUND AND AIMS: Autosomal recessive hypercholesterolemia (ARH) is a very rare disease, caused by mutations in LDL protein receptor adaptor 1 (LDLRAP1). It is characterized by high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature cardiovascular disease. We aimed to characterize ARH in Spain. METHODS: Data were collected from the Dyslipidemia Registry of the Spanish Atherosclerosis Society. A literature search was performed up to June 2017, and all diagnostic genetic studies for familial hypercholesterolemia of Spain were reviewed...
December 6, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29245087/genotyping-of-common-egfr-mutations-in-lung-cancer-patients-by-electrochemical-biosensor
#3
Xiu-Hua Weng, Xiong-Wei Xu, Chang-Lian Wang, Wei-Wei Lin, Ai-Lin Liu, Wei Chen, Xin-Hua Lin
In this study, we constructed a sandwich-type biosensor to identify six common types of mutations in exon 19 of the epidermal growth factor receptor (EGFR) gene, and tested them using tissue samples from patients with non-small cell lung carcinomas. Considering the characteristics that different locations of non-complementary in DNA probes resulting in different hybridization efficiency, we investigated the design of DNA capture probes with varying non-complementary sequence locations in an effort to optimize the selectivity of the biosensor...
December 9, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/29245078/analysis-of-nras-gain-in-657-patients-with-melanoma-and-evaluation-of-its-sensitivity-to-a-mek-inhibitor
#4
Junya Yan, Xiaowen Wu, Jiayi Yu, Huan Yu, Tianxiao Xu, Kevin M Brown, Xue Bai, Jie Dai, Meng Ma, Huan Tang, Lu Si, Zhihong Chi, Xinan Sheng, Chuanliang Cui, Yan Kong, Jun Guo
BACKGROUND: Neuroblastoma rat-sarcoma (NRAS) mutations have been described in Chinese patients with melanoma. However, the status and the clinical significance of NRAS gain have not been investigated on a large scale. METHODS: A total of 657 melanoma samples were included in the study. NRAS copy number was examined using the QuantiGene Plex DNA assay. The sensitivities of cell lines and patient-derived xenograft (PDX) models containing NRAS gain to a MAP/ERK kinase (MEK) inhibitor (binimetinib) were also evaluated...
December 11, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/29244957/hypercementosis-associated-with-enpp1-mutations-and-gaci
#5
V Thumbigere-Math, A Alqadi, N I Chalmers, M B Chavez, E Y Chu, M T Collins, C R Ferreira, K FitzGerald, R I Gafni, W A Gahl, K S Hsu, M S Ramnitz, M J Somerman, S G Ziegler, B L Foster
Mineralization of bones and teeth is tightly regulated by levels of extracellular inorganic phosphate (Pi) and pyrophosphate (PPi). Three regulators that control pericellular concentrations of Pi and PPi include tissue-nonspecific alkaline phosphatase (TNAP), progressive ankylosis protein (ANK), and ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). Inactivation of these factors results in mineralization disorders affecting teeth and their supporting structures. This study for the first time analyzed the effect of decreased PPi on dental development in individuals with generalized arterial calcification of infancy (GACI) due to loss-of-function mutations in the ENPP1 gene...
December 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/29244871/inflammatory-monocytes-mediate-control-of-acute-alphavirus-infection-in-mice
#6
Kelsey C Haist, Kristina S Burrack, Bennett J Davenport, Thomas E Morrison
Chikungunya virus (CHIKV) and Ross River virus (RRV) are mosquito-transmitted alphaviruses that cause debilitating acute and chronic musculoskeletal disease. Monocytes are implicated in the pathogenesis of these infections; however, their specific roles are not well defined. To investigate the role of inflammatory Ly6ChiCCR2+ monocytes in alphavirus pathogenesis, we used CCR2-DTR transgenic mice, enabling depletion of these cells by administration of diptheria toxin (DT). DT-treated CCR2-DTR mice displayed more severe disease following CHIKV and RRV infection and had fewer Ly6Chi monocytes and NK cells in circulation and muscle tissue compared with DT-treated WT mice...
December 15, 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/29244865/the-arabidopsis-thaliana-f-box-gene-hawaiian-skirt-is-a-new-player-in-the-microrna-pathway
#7
Xuebin Zhang, Dasuni Jayaweera, Janny L Peters, Judit Szecsi, Mohammed Bendahmane, Jeremy A Roberts, Zinnia H González-Carranza
In Arabidopsis, the F-box HAWAIIAN SKIRT (HWS) protein is important for organ growth. Loss of function of HWS exhibits pleiotropic phenotypes including sepal fusion. To dissect the HWS role, we EMS-mutagenized hws-1 seeds and screened for mutations that suppress hws-1 associated phenotypes. We identified shs-2 and shs-3 (suppressor of hws-2 and 3) mutants in which the sepal fusion phenotype of hws-1 was suppressed. shs-2 and shs-3 (renamed hst-23/hws-1 and hst-24/hws-1) carry transition mutations that result in premature terminations in the plant homolog of Exportin-5 HASTY (HST), known to be important in miRNA biogenesis, function and transport...
2017: PloS One
https://www.readbyqxmd.com/read/29244863/a-parapoxviral-virion-protein-targets-the-retinoblastoma-protein-to-inhibit-nf-%C3%AE%C2%BAb-signaling
#8
Ponnuraj Nagendraprabhu, Sushil Khatiwada, Sabal Chaulagain, Gustavo Delhon, Daniel L Rock
Poxviruses have evolved multiple strategies to subvert signaling by Nuclear Factor κB (NF-κB), a crucial regulator of host innate immune responses. Here, we describe an orf virus (ORFV) virion-associated protein, ORFV119, which inhibits NF-κB signaling very early in infection (≤ 30 min post infection). ORFV119 NF-κB inhibitory activity was found unimpaired upon translation inhibition, suggesting that virion ORFV119 alone is responsible for early interference in signaling. A C-terminal LxCxE motif in ORFV119 enabled the protein to interact with the retinoblastoma protein (pRb) a multifunctional protein best known for its tumor suppressor activity...
December 15, 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/29244844/diagnostic-markers-for-the-detection-of-ovarian-cancer-in-brca1-mutation-carriers
#9
Daphne Gschwantler-Kaulich, Sigrid Weingartshofer, Christine Rappaport-Fürhauser, Robert Zeilinger, Dietmar Pils, Daniela Muhr, Elena I Braicu, Marie-Therese Kastner, Yen Y Tan, Lorenz Semmler, Jalid Sehouli, Christian F Singer
BACKGROUND: Screening for ovarian cancer (OC) in women at high risk consists of a combination of carbohydrate antigen 125 (CA125) and transvaginal ultrasound, despite their low sensitivity and specificity. This could be improved by the combination of several biomarkers, which has been shown in average risk patients but has not been investigated until now in female BRCA mutation carriers. METHODS: Using a multiplex, bead-based, immunoassay system, we analyzed the concentrations of leptin, prolactin, osteopontin, insulin-like growth factor II, macrophage inhibitory factor, CA125 and human epididymis antigen 4 in 26 healthy wild type women, 26 healthy BRCA1 mutation carriers, 28 wildtype OC patients and 26 OC patients with BRCA1 mutation...
2017: PloS One
https://www.readbyqxmd.com/read/29244835/tumor-suppressor-protein-p53-mediated-repression-of-human-mitotic-centromere-associated-kinesin-gene-expression-is-exerted-via-down-regulation-of-sp1-level
#10
Do Youn Jun, Ji Young Lee, Hae Sun Park, Yun Han Lee, Young Ho Kim
The repressive role of p53 on the human mitotic centromere-associated kinesin (MCAK) core promoter from ‒266 to +54, relative to the transcription start site, has been determined. The MCAK mRNA and protein levels were 2.1- and 3.0-fold higher, respectively, in HCT116 (p53‒/‒) than in HCT116 (p53+/+) cells. Enforced down-regulation of p53 levels either in HCT116 (p53+/+) cells by p53 RNAi treatment or in MCF-7 cells using shRNA for p53 (shp53) resulted in a remarkable increase in the MCAK protein level...
2017: PloS One
https://www.readbyqxmd.com/read/29244830/transcriptome-profiling-identifies-regulators-of-pathogenesis-in-collagen-vi-related-muscular-dystrophy
#11
Russell J Butterfield, Diane M Dunn, Ying Hu, Kory Johnson, Carsten G Bönnemann, Robert B Weiss
OBJECTIVES: The collagen VI related muscular dystrophies (COL6-RD), Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) are among the most common congenital muscular dystrophies and are characterized by distal joint laxity and a combination of distal and proximal joint contractures. Inheritance can be dominant negative (DN) or recessive depending on the type and location of the mutation. DN mutations allow incorporation of abnormal chains into secreted tetramers and are the most commonly identified mutation type in COL6-RD...
2017: PloS One
https://www.readbyqxmd.com/read/29244809/hiv-1-viraemia-and-drug-resistance-amongst-female-sex-workers-in-soweto-south-africa-a-cross-sectional-study
#12
Jenny Coetzee, Gillian Hunt, Maya Jaffer, Kennedy Otwombe, Lesley Scott, Asiashu Bongwe, Johanna Ledwaba, Sephonono Molema, Rachel Jewkes, Glenda E Gray
BACKGROUND: HIV drug resistance (HIVDR) poses a threat to future antiretroviral therapy success. Monitoring HIVDR patterns is of particular importance in populations such as sex workers (SWs), where documented HIV prevalence is between 34-89%, and in countries with limited therapeutic options. Currently in South Africa, there is a dearth in evidence and no ongoing surveillance of HIVDR amongst sex work populations. This study aims to describe the prevalence of HIVDR amongst a sample of female sex workers (FSWs) from Soweto, South Africa...
2017: PloS One
https://www.readbyqxmd.com/read/29244808/fgmd-a-novel-approach-for-functional-gene-module-detection-in-cancer
#13
Daeyong Jin, Hyunju Lee
With the increasing availability of multi-dimensional biological datasets for the same samples (i.e., gene expression, microRNAs, copy numbers, mutations, methylations), it has now become possible to systematically understand the regulatory mechanisms operating in a cancer cell. For this task, it is important to discover a set of co-expressed genes with functions, representing a so-called functional gene module, because co-expressed genes tend to be co-regulated by the same regulators, including transcription factors, microRNAs, and copy number aberrations...
2017: PloS One
https://www.readbyqxmd.com/read/29244787/loss-of-podocalyxin-causes-a-novel-syndromic-type-of-congenital-nephrotic-syndrome
#14
Hee Gyung Kang, Moses Lee, Kyoung Boon Lee, Michael Hughes, Bo Sang Kwon, Sangmoon Lee, Kelly M McNagny, Yo Han Ahn, Jung Min Ko, Il-Soo Ha, Murim Choi, Hae Il Cheong
Many cellular structures directly imply specific biological functions. For example, normal slit diaphragm structures that extend from podocyte foot processes ensure the filtering function of renal glomeruli. These slits are covered by a number of surface proteins, such as nephrin, podocin, podocalyxin and CD2AP. Here we report a human patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL, which encodes podocalyxin, inherited from each parent...
December 15, 2017: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/29244767/regulatory-elements-located-in-the-upstream-region-of-the-rhizobium-leguminosarum-rosr-global-regulator-are-essential-for-its-transcription-and-mrna-stability
#15
Kamila Rachwał, Paulina Lipa, Iwona Wojda, José-María Vinardell, Monika Janczarek
Rhizobium leguminosarum bv. trifolii is a soil bacterium capable of establishing a symbiotic relationship with clover (Trifolium spp.). Previously, the rosR gene, encoding a global regulatory protein involved in motility, synthesis of cell-surface components, and other cellular processes was identified and characterized in this bacterium. This gene possesses a long upstream region that contains several regulatory motifs, including inverted repeats (IRs) of different lengths. So far, the role of these motifs in the regulation of rosR transcription has not been elucidated in detail...
December 15, 2017: Genes
https://www.readbyqxmd.com/read/29244750/higa-a-running-history-information-guided-genetic-algorithm-for-protein-ligand-docking
#16
Boxin Guan, Changsheng Zhang, Yuhai Zhao
Protein-ligand docking is an essential part of computer-aided drug design, and it identifies the binding patterns of proteins and ligands by computer simulation. Though Lamarckian genetic algorithm (LGA) has demonstrated excellent performance in terms of protein-ligand docking problems, it can not memorize the history information that it has accessed, rendering it effort-consuming to discover some promising solutions. This article illustrates a novel optimization algorithm (HIGA), which is based on LGA for solving the protein-ligand docking problems with an aim to overcome the drawback mentioned above...
December 15, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29244742/fibrinogen-gamma-chain-mutations-provoke-fibrinogen-and-apolipoprotein-b-plasma-deficiency-and-liver-storage
#17
Francesco Callea, Isabella Giovannoni, Sinan Sari, Esendagli Guldal, Buket Dalgic, Gulen Akyol, Tsuyoshi Sogo, Abdulrahman Al-Hussaini, Giuseppe Maggiore, Andrea Bartuli, Renata Boldrini, Paola Francalanci, Emanuele Bellacchio
p.R375W (Fibrinogen Aguadilla) is one out of seven identified mutations (Brescia, Aguadilla, Angers, Al du Pont, Pisa, Beograd, and Ankara) causing hepatic storage of the mutant fibrinogen γ. The Aguadilla mutation has been reported in children from the Caribbean, Europe, Japan, Saudi Arabia, Turkey, and China. All reported children presented with a variable degree of histologically proven chronic liver disease and low plasma fibrinogen levels. In addition, one Japanese and one Turkish child had concomitant hypo-APOB-lipoproteinemia of unknown origin...
December 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29244539/genotype-phenotype-variability-of-retinal-manifestation-in-primary-hyperoxaluria-type-1
#18
S Dulz, E Bigdon, Y Atiskova, F Schuettauf, R Cerkauskiene, J Oh, F Brinkert
BACKGROUND: Primary hyperoxaluria type 1 (PH1) is a rare congenital metabolic disorder of the glyoxylate pathway, which manifests with nephrocalcinosis, urolithiasis, and end-stage renal failure (ESRD) as well as deposition of oxalate crystals within ocular tissues. This report demonstrates classical ocular features of PH1 of the posterior pole and furthermore highlights the ocular genotype-phenotype variability among siblings with identical compound heterozygous alanine-glyoxylate aminotransferase (AGXT) mutations...
December 15, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29244484/charge-switchable-nanozymes-for-bioorthogonal-imaging-of-biofilm-associated-infections
#19
Akash Gupta, Riddha Das, Gulen Yesilbag Tonga, Tsukasa Mizuhara, Vincent M Rotello
Early detection of biofilms is crucial for limiting infection-based damage. Imaging these biofilms is challenging: conventional imaging agents are unable to penetrate the dense matrix of the biofilm, and many imaging agents are susceptible to false positive/negative responses due to phenotypical mutations of the constituent microbes. We report the creation of pH-responsive nanoparticles with embedded transition metal catalysts (nanozymes) that effectively target the acidic microenvironment of biofilms. These pH-switchable nanozymes generate imaging agents through bio-orthogonal activation of pro-fluorophores inside biofilms...
December 15, 2017: ACS Nano
https://www.readbyqxmd.com/read/29244209/generation-of-a-kshv-k13-deletion-mutant-for-vflip-function-study
#20
Fei Wang, Yuanyuan Guo, Wan Li, Chun Lu, Qin Yan
Kaposi's sarcoma-associated herpesvirus (KSHV)-encoded viral Fas-associated death domain-like IL-1-converting enzyme inhibitory protein (vFLIP) is one of the latently expressed genes and plays a key role in cell survival and maintenance of latent infection by activating the NF-κB pathway. To obtain a genetic system for studying KSHV vFLIP mutation in the context of the viral genome, we generated recombinant viruses lacking the coding sequence (CDS) of vFLIP gene (K13/ORF71) by bacterial artificial chromosome (BAC) technology and the Escherichia coli Red recombination system...
December 15, 2017: Journal of Medical Virology
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