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https://www.readbyqxmd.com/read/28646746/variable-spontaneous-mutation-rate-in-clinical-strains-of-multidrug-resistant-acinetobacter-baumannii-and-differentially-expressed-proteins-in-a-hypermutator-strain
#1
Morteza Karami-Zarandi, Masoumeh Douraghi, Behrouz Vaziri, Habibeh Adibhesami, Mohammad Rahbar, Mehdi Yaseri
BACKGROUND: The emergence of multidrug resistant Acinetobacter baumannii within hospitals poses a significant threat to patients. The inherent rate of mutation of these strains has not been described nor has the mechanism by which drug resistance arises. METHODS: Here, we determined the spontaneous mutation rates in 93 clinical strains of A. baumannii using fluctuation analysis. To rule out the clonal relatedness of hypermutator strains, pulsed-field gel electrophoresis (PFGE) was conducted...
June 8, 2017: Mutation Research
https://www.readbyqxmd.com/read/28646650/requirement-for-eukaryotic-translation-initiation-factors-in-cap-independent-translation-differs-between-bipartite-genomic-rnas-of-red-clover-necrotic-mosaic-virus
#2
Yuri Tajima, Hiro-Oki Iwakawa, Kiwamu Hyodo, Masanori Kaido, Kazuyuki Mise, Tetsuro Okuno
The bipartite genomic RNAs of red clover necrotic mosaic virus (RCNMV) lack a 5' cap and a 3' poly(A) tail. RNA1 encodes viral replication proteins, and RNA2 encodes a movement protein (MP). These proteins are translated in a cap-independent manner. We previously identified two cis-acting RNA elements that cooperatively recruit eukaryotic translation initiation factor (eIF) complex eIF4F or eIFiso4F to RNA1. Such cis-acting RNA elements and host factors have not been identified in RNA2. Here we found that translation of RNA1 was significantly compromised in Arabidopsis thaliana carrying eif4f mutation...
June 21, 2017: Virology
https://www.readbyqxmd.com/read/28646649/two-single-mutations-in-the-fusion-protein-of-newcastle-disease-virus-confer-hemagglutinin-neuraminidase-independent-fusion-promotion-and-attenuate-the-pathogenicity-in-chickens
#3
Yanhong Ji, Tao Liu, Yane Jia, Bin Liu, Qingzhong Yu, Xiaole Cui, Fengfeng Guo, Huiyun Chang, Qiyun Zhu
The fusion (F) protein of Newcastle disease virus (NDV) affects viral infection and pathogenicity through mediating membrane fusion. Previously, we found NDV with increased fusogenic activity in which contained T458D or G459D mutation in the F protein. Here, we investigated the effects of these two mutations on viral infection, fusogenicity and pathogenicity. Syncytium formation assays indicated that T458D or G459D increased the F protein cleavage activity and enhanced cell fusion with or without the presence of HN protein...
June 21, 2017: Virology
https://www.readbyqxmd.com/read/28646617/melanoma-associated-grm3-variants-dysregulate-melanosome-trafficking-and-camp-signaling
#4
Ana Neto, Craig J Ceol
Large-scale sequencing studies have revealed several genes that are recurrently mutated in melanomas. To annotate the melanoma genome we have expressed tumor-associated variants of these genes in zebrafish and characterized their effects on melanocyte development and function. Here, we describe expression of tumor-associated variants of the recurrently-mutated metabotropic glutamate receptor 3 (GRM3) gene. Unlike wild-type GRM3, tumor-associated GRM3 variants disrupted trafficking of melanosomes, causing their aggregation in the cell body...
June 24, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28646613/novel-tmc8-splice-site-mutation-in-epidermodysplasia-verruciformis-and-review-of-hpv-infections-in-patients-with-the-disease
#5
E Imahorn, Z Yüksel, I Spoerri, G Gürel, C Imhof, Z N Saraçoğlu, A E Koku Aksu, P L Rady, S K Tyring, W Kempf, P H Itin, B Burger
BACKGROUND: Epidermodysplasia verruciformis (EV) is a genodermatosis leading to infections with cutaneous HPV, persistent plane warts and a high rate of non-melanoma skin cancer (NMSC). Biallelic loss-of-function mutations in TMC6 and TMC8 are known to be causative. OBJECTIVE: The aim of this study was to report EV-causing mutations in four patients with EV and to give an overview of all described EV patients. PATIENTS AND METHODS: We investigated four patients with classical features of EV from two families...
June 24, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28646612/dowling-degos-disease-with-mutation-in-the-exon-1-of-the-keratin-5-gene
#6
Wanting Yu, Lu Gan, Jianbing Wu, Jianfang Sun, Yiqun Jiang
Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterised by acquired hyperpigmentation in a reticulate pattern, particularly affecting the flexural areas and other major skin folds. Mutations in KRT5, POFUT1 and POGLUT1 genes have been identified as causative genetic defects(1,2,3) . We report a new mutation in KRT5 in a sporadic Chinese patient with classical features of DDD. The patient, a 54-year-old man presented a 10-year history of progressively prutitic reticulated hyperpigmented macules in the flexural areas...
June 24, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28646562/argininosuccinate-synthase-1-ass1-a-marker-of-unclassified-hepatocellular-adenoma-and-high-bleeding-risk
#7
Elodie Henriet, Aya Abou Hammoud, Jean-William Dupuy, Benjamin Dartigues, Zakaria Ezzoukry, Nathalie Dugot-Senant, Thierry Leste-Lasserre, Nestor Pallares-Lupon, Macha Nikolski, Brigitte Le Bail, Jean-Frédéric Blanc, Charles Balabaud, Paulette Bioulac-Sage, Anne-Aurélie Raymond, Frédéric Saltel
Hepatocellular adenomas (HCA) are rare benign tumors divided into three main subgroups defined by patho-molecular features, HNF1A (H-HCA), mutated β-catenin (b-HCA) and inflammatory (IHCA). In the case of unclassified HCA (UHCA), which are currently identified by default, a high risk of bleeding remains a clinical issue. The objective of this study was to explore UHCA proteome with the aim to identify specific biomarkers. Following dissection of the tumoral (T) and non-tumoral (NT) tissue on formalin-fixed paraffin-embedded (FFPE) from HCA tissue sections using laser capture methodology, we performed mass spectrometry analysis to compare T and NT protein expression levels in HCA, H-HCA, IHCA, b-HCA, UHCA and focal nodular hyperplasia...
June 23, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28646538/a-novel-attr-l32v-mutation-causes-familial-amyloid-polyneuropathy-in-a-bolivian-family
#8
P L Martínez-Ulloa, M Vallejo, I Corral, N García-Barragán, A Alcazar, Emma Martínez-Alonso, J Martínez-Poles, H Pian, A Jiménez-Escrig
We report a new transthyretin (ATTR) gene c.272C>G mutation and variant protein, p.Leu32Val, in a kindred of Bolivian origin with a rapid progressive peripheral neuropathy and cardiomyopathy. Three individuals from a kindred with peripheral nerve and cardiac amyloidosis were examined. Analysis of the TTR gene was performed by Sanger direct sequencing. Neuropathologic examination was obtained on the index patient with mass spectrometry study of the ATTR deposition. Direct DNA sequence analysis of exons 2, 3 and 4 of the TTR gene demonstrated a c...
June 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28646536/spectrum-of-mutations-in-cystinuria-patients-presenting-with-prenatal-hyperechoic-colon
#9
Isabelle Tostivint, Nicolas Royer, Mireille Nicolas, Agnes Bourillon, Isabelle Czerkiewicz, Pierre-Hadrien Becker, Françoise Muller, Jean-François Benoist
Cystinuria is a heterogeneous, rare but important cause of inherited kidney stone disease due to mutations in two genes: SLC3A1 and SLC7A9. Antenatal hyperechoic colon has been reported in some patients as a non-pathological consequence of the intestinal transport defect. We report 83 patients affected by cystinuria: 44 presented prenatally with a hyperechoic colon (HEC group) and 39 with a classical postnatal form (CC group). SLC3A1 and SLC7A9 were sequenced. All patients were fully genotyped, and the relationship between the genotype and clinical features was analyzed...
June 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28646493/src-family-kinase-phosphorylation-of-the-motor-domain-of-the-human-kinesin-5-eg5
#10
Kathleen G Bickel, Barbara J Mann, Joshua S Waitzman, Taylor A Poor, Sarah E Rice, Patricia Wadsworth
Spindle formation in mammalian cells requires precise spatial and temporal regulation of the kinesin-5, Eg5, which generates outward force to establish spindle bipolarity. Our results demonstrate that Eg5 is phosphorylated in cultured cells by Src family kinases (SFKs) at three sites in the motor head: Y125, Y211, and Y231. Mutation of these sites diminishes motor activity in vitro, and replacement of endogenous Eg5 with phosphomimetic Y211 in LLC-Pk1 cells results in monopolar spindles, consistent with loss of Eg5 activity...
June 23, 2017: Cytoskeleton
https://www.readbyqxmd.com/read/28646489/functional-analysis-of-p-ala253_leu254insasn-mutation-in-pls3-responsible-for-x-linked-osteoporosis
#11
Lianqing Wang, Qiaoli Zhai, Peiqing Zhao, Xinxin Xiang, Xiaowei Zhang, Wenxiu Tian, Tao Li
Mutations in Plastin-3 (PLS3) have been identified as a cause of X-linked osteoporosis. To reveal the molecular mechanism of PLS3 on osteoporosis, we characterized the p.Ala253_Leu254insAsn mutation in PLS3. We first identified Lymphocyte cytosolic protein 1 (LCP1) as a binding partner of PLS3 and the mutation disrupted the interaction between them. We then confirmed the roles of PLS3 and LCP1 in the regulation of intracellular Ca(2+) , which was weakened by the mutant PLS3. Moreover, the interaction between PLS3 and LCP1 was enhanced under a low concentration of extracellular Ca(2+) ...
June 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28646488/mutation-in-the-fgfr1-tyrosine-kinase-domain-or-inactivation-of-pten-is-associated-with-acquired-resistance-to-fgfr-inhibitors-in-fgfr1-driven-leukemia-lymphomas
#12
John K Cowell, Haiyan Qin, Tianxiang Hu, Qing Wu, Aaron Bhole, Mingqiang Ren
Stem cell leukemia/lymphoma syndrome (SCLL) is driven by constitutive activation of chimeric FGFR1 kinases generated by chromosome translocations. We have shown that FGFR inhibitors significantly suppress leukemia and lymphoma development in vivo, and cell viability in vitro. Since resistance to targeted therapies is a major reason for relapse, we developed FGFR1-overexpressing mouse and human cell lines that are resistant to the specific FGFR inhibitors AZD4547 and BGJ398, as well as non-specific inhibitors, such as ponatinib, TKI258 and E3810...
June 24, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28646478/newborn-screening-for-fabry-disease-in-the-north-west-of-spain
#13
Cristobal Colon, Saida Ortolano, Cristina Melcon-Crespo, Jose V Alvarez, Olalla E Lopez-Suarez, Maria L Couce, José R Fernández-Lorenzo
Fabry disease is an X-linked lysosomal storage disorder caused by the impairment of α-galactosidase A. Enzyme replacement therapy is available to treat patients, who often experience delayed diagnosis. A newborn screening for Fabry disease was performed to study the prevalence of the pathology and to evaluate the possibility to implement the test in systematic screenings. We collected 14,600 dried blood spot samples (7575 males and 7025 females) and carried out a diagnostic study by fluorometric measurement of α-galactosidase A enzymatic activity and GLA gene sequencing...
June 23, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28646474/correlation-between-braf-v600e-mutation-and-clinicopathological-features-in-pediatric-papillary-thyroid-carcinoma
#14
Jiangqiao Geng, Huanmin Wang, Yuanhu Liu, Jun Tai, Yaqiong Jin, Jie Zhang, Lejian He, Libing Fu, Hong Qin, Yingluan Song, Jinzhu Su, Aiying Zhang, Xin Wen, Yongli Guo, Xin Ni
In adults, the presence of the BRAF (V600E) mutation in papillary thyroid cancer (PTC) has been demonstrated to be strongly associated with aggressive cancer-cell characteristics and poor patient prognosis. In contrast, the frequency of this mutation in pediatric PTC has undergone limited study, and the few available estimates range from 0 to 63%. Furthermore, the role of the BRAF (V600E) mutation in pediatric PTC is controversial; thus, the present study aimed to investigate the prevalence and role of the BRAF (V600E) mutation in 48 pediatric patients with PTC, aged 3-13 years...
June 15, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28646452/dosage-effects-of-zp2-and-zp3-heterozygous-mutations-cause-human-infertility
#15
Wenqiang Liu, Kunming Li, Dandan Bai, Jiqing Yin, Yuanyuan Tang, Fengli Chi, Linfeng Zhang, Yu Wang, Jiaping Pan, Shanshan Liang, Yi Guo, Jingling Ruan, Xiaochen Kou, Yanhong Zhao, Hong Wang, Jiayu Chen, Xiaoming Teng, Shaorong Gao
The zona pellucida (ZP) is an extracellular matrix universally surrounding mammalian eggs, which is essential for oogenesis, fertilization, and pre-implantation embryo development. Here, we identified two novel heritable mutations of ZP2 and ZP3, both occurring in an infertile female patient with ZP-abnormal eggs. Mouse models with the same mutations were generated by CRISPR/Cas9 gene editing system, and oocytes obtained from female mice with either single heterozygous mutation showed approximately half of the normal ZP thickness compared to wild-type oocytes...
June 24, 2017: Human Genetics
https://www.readbyqxmd.com/read/28646413/integrated-in-silico-in-vitro-identification-and-characterization-of-the-sh3-mediated-interaction-between-human-pttg-and-its-cognate-partners-in-medulloblastoma
#16
Jiangang Liu, Dapeng Wang, Yanyan Li, Hui Yao, Nan Zhang, Xuewen Zhang, Fangping Zhong, Yulun Huang
The human pituitary tumor-transforming gene is an oncogenic protein which serves as a central hub in the cellular signaling network of medulloblastoma. The protein contains two vicinal PxxP motifs at its C terminus that are potential binding sites of peptide-recognition SH3 domains. Here, a synthetic protocol that integrated in silico analysis and in vitro assay was described to identify the SH3-binding partners of pituitary tumor-transforming gene in the gene expression profile of medulloblastoma. In the procedure, a variety of structurally diverse, non-redundant SH3 domains with high gene expression in medulloblastoma were compiled, and their three-dimensional structures were either manually retrieved from the protein data bank database or computationally modeled through bioinformatics technique...
June 24, 2017: Cell Biochemistry and Biophysics
https://www.readbyqxmd.com/read/28646407/associations-of-red-and-processed-meat-intake-with-major-molecular-pathological-features-of-colorectal-cancer
#17
Prudence R Carr, Lina Jansen, Stefanie Bienert, Wilfried Roth, Esther Herpel, Matthias Kloor, Hendrik Bläker, Jenny Chang-Claude, Hermann Brenner, Michael Hoffmeister
Red and processed meat is an established risk factor for colorectal cancer (CRC). However, exact mechanisms to explain the associations remain unclear. Few studies have investigated the association with CRC by molecular tumor features, which could provide relevant information on associated molecular pathways. In this population-based case-control study from Germany (DACHS), 2449 cases and 2479 controls provided information on risk factors of CRC and completed a food frequency questionnaire. Multivariable logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (CI) for the associations between meat intake and risk of CRC by molecular pathologic features and specific subtypes...
June 23, 2017: European Journal of Epidemiology
https://www.readbyqxmd.com/read/28646326/transposable-elements-mediate-adaptive-debilitation-of-flagella-in-experimental-escherichia-coli-populations
#18
Gordon R Plague, Krystal S Boodram, Kevin M Dougherty, Sandar Bregg, Daniel P Gilbert, Hira Bakshi, Daniel Costa
Although insertion sequence (IS) elements are generally considered genomic parasites, they can mediate adaptive genetic changes in bacterial genomes. We discovered that among 12 laboratory-evolved Escherichia coli populations, three had experienced at least six different IS1-mediated deletions of flagellar genes. These deletions all involved the master flagellar regulator flhDC, and as such completely incapacitate motility. Two lines of evidence strongly suggest that these deletions were adaptive in our evolution experiment: (1) parallel evolution in three independent populations is highly unlikely just by chance, and (2) one of these deletion mutations swept to fixation within ~1000 generations, which is over two million times faster than expected if this deletion was instead selectively neutral and thus evolving by genetic drift...
June 23, 2017: Journal of Molecular Evolution
https://www.readbyqxmd.com/read/28646318/primary-renal-paragangliomas-and-renal-neoplasia-associated-with-pheochromocytoma-paraganglioma-analysis-of-von-hippel-lindau-vhl-succinate-dehydrogenase-sdhx-and-transmembrane-protein-127-tmem127
#19
Sounak Gupta, Jun Zhang, Dragana Milosevic, John R Mills, Stefan K Grebe, Steven C Smith, Lori A Erickson
Alterations of von Hippel-Lindau (VHL), succinate dehydrogenase (SDHX), and TMEM127 have been associated with the development of pheochromocytomas (PCs) and paragangliomas (PGLs) and are also associated with the development of renal neoplasms. This study involved 2 primary renal PGL and 12 cases of PC/PGL with associated renal neoplasia with a mean follow up of 74 months. Germline VHL and SDHX mutation status was obtained from the medical record. Immunohistochemistry for SDHB and mutation analysis for TMEM127 was performed, in addition to analysis of The Cancer Genome Atlas datasets for SDHX and TMEM127 mutated renal cell carcinomas (RCCs)...
June 23, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28646291/application-of-open-access-databases-to-determine-functional-connectivity-between-resveratrol-binding-protein-qr2-and-colorectal-carcinoma
#20
Barbara B Doonan, Evelien Schaafsma, John T Pinto, Joseph M Wu, Tze-Chen Hsieh
Colorectal cancer (CRC) is a major cause of cancer-associated deaths worldwide. Recently, oral administration of resveratrol (trans-3,5,4'-trihydroxystilbene) has been reported to significantly reduce tumor proliferation in colorectal cancer patients, however, with little specific information on functional connections. The pathogenesis and development of colorectal cancer is a multistep process that can be categorized using three phenotypic pathways, respectively, chromosome instability (CIN), microsatellite instability (MSI), and CpG island methylator (CIMP)...
June 23, 2017: In Vitro Cellular & Developmental Biology. Animal
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