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https://www.readbyqxmd.com/read/28441826/-a-childhood-onset-rapid-onset-dystonia-parkinsonism-family-with-atp1a3-gene-mutation-and-literatures-review
#1
C L Zhang, F Yin, F He, N Gai, Z Q Shi, J Peng
Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism"RDP"DYT12" as key words was reviewed...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441782/deep-sequencing-analysis-of-rnas-from-citrus-plants-grown-in-a-citrus-sudden-death-affected-area-reveals-diverse-known-and-putative-novel-viruses
#2
Emilyn E Matsumura, Helvecio D Coletta-Filho, Shahideh Nouri, Bryce W Falk, Luca Nerva, Tiago S Oliveira, Silvia O Dorta, Marcos A Machado
Citrus sudden death (CSD) has caused the death of approximately four million orange trees in a very important citrus region in Brazil. Although its etiology is still not completely clear, symptoms and distribution of affected plants indicate a viral disease. In a search for viruses associated with CSD, we have performed a comparative high-throughput sequencing analysis of the transcriptome and small RNAs from CSD-symptomatic and -asymptomatic plants using the Illumina platform. The data revealed mixed infections that included Citrus tristeza virus (CTV) as the most predominant virus, followed by the Citrus sudden death-associated virus (CSDaV), Citrus endogenous pararetrovirus (CitPRV) and two putative novel viruses tentatively named Citrus jingmen-like virus (CJLV), and Citrus virga-like virus (CVLV)...
April 24, 2017: Viruses
https://www.readbyqxmd.com/read/28441666/a-microrna-124-polymorphism-is-associated-with-fracture-healing-via-modulating-bmp6-expression
#3
Lin Zou, Guichun Zhang, Lifeng Liu, Chen Chen, Xuecheng Cao, Jinfang Cai
BACKGROUND: miR-124-3p has been reported to be involved in the pathogenesis of many diseases by modulating a variety of signaling pathways. In this study, we aimed to understand the impact of miR-124-3p expression level on the fracture healing in the patients of metaphyseal fracture of distal tibia, who received minimal invasive percutaneous plate osteosynthesis. METHODS: We firstly collected 195 patients of metaphyseal fracture of distal tibia, and the genotype of rs531564 was determined: GG (n=124) and GC+CC (n=71)...
April 20, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28440912/performance-of-in-silico-tools-for-the-evaluation-of-p16ink4a-cdkn2a-variants-in-cagi
#4
Marco Carraro, Giovanni Minervini, Manuel Giollo, Yana Bromberg, Emidio Capriotti, Rita Casadio, Roland Dunbrack, Lisa Elefanti, Pietro Fariselli, Carlo Ferrari, Julian Gough, Panagiotis Katsonis, Emanuela Leonardi, Olivier Lichtarge, Chiara Menin, Pier Luigi Martelli, Abhishek Niroula, Lipika R Pal, Susanna Repo, Maria Chiara Scaini, Mauno Vihinen, Qiong Wei, Qifang Xu, Yuedong Yang, Yizhou Yin, Jan Zaucha, Huiying Zhao, Yaoqi Zhou, Steven E Brenner, John Moult, Silvio C E Tosatto
Correct phenotypic interpretation of variants of unknown significance for cancer-associated genes is a diagnostic challenge as genetic screenings gain in popularity in the next-generation sequencing era. The Critical Assessment of Genome Interpretation (CAGI) experiment aims to test and define the state of the art of genotype-phenotype interpretation. Here, we present the assessment of the CAGI p16INK4a challenge. Participants were asked to predict the effect on cellular proliferation of ten variants for the p16INK4a tumor suppressor, a cyclin-dependent kinase inhibitor encoded by the CDKN2A gene...
April 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28440896/genome-wide-meta-analysis-identifies-a-novel-susceptibility-signal-at-cacna2d3-for-nicotine-dependence
#5
Xianyong Yin, Chris Bizon, Jeffrey Tilson, Yuan Lin, Ian R Gizer, Cindy L Ehlers, Kirk C Wilhelmsen
Nicotine dependence (ND) has a reported heritability of 40-70%. Low-coverage whole-genome sequencing was conducted in 1,889 samples from the UCSF Family study. Linear mixed models were used to conduct genome-wide association (GWA) tests of ND in this and five cohorts obtained from the database of Genotypes and Phenotypes. Fixed-effect meta-analysis was carried out separately for European (n = 14,713) and African (n = 3,369) participants, and then in a combined analysis of both ancestral groups. The meta-analysis of African participants identified a significant and novel susceptibility signal (rs56247223; p = 4...
April 25, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28440885/a-comparison-of-direct-sequencing-and-invader-assay-for-y93h-mutation-and-response-to-interferon-free-therapy-in-hepatitis-c-virus-genotype-1b
#6
Kazuhiko Hayashi, Masatoshi Ishigami, Yoji Ishizu, Teiji Kuzuya, Takashi Honda, Hiroki Kawashima, Tetsuya Ishikawa, Yoshihiko Tachi, Masashi Hattori, Yoshiaki Katano, Hidemi Goto, Yoshiki Hirooka
BACKGROUND AND AIM: Virologic failure of interferon (IFN)-free therapy has been associated with Y93H mutation in the NS5A region in hepatitis C virus (HCV) genotype 1b, and screening is recommended. A simple assay based on Q-Invader technology was developed for Y93H mutant screening to reduce cost and effort. The present study sought to compare two methods of detection of Y93H mutation and to evaluate the effect of Y93H mutation on response to IFN free therapy. METHODS: Y93H mutation was examined in 258 patients with HCV genotype 1b using both direct sequencing analysis and the PCR-Invader assay...
April 25, 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28440785/impacts-of-hbv-rth55r-polymerase-substitution-on-viral-replication-and-rtm204i-v-resistance-to-nucleoside-nucleotide-antiviral-drugs
#7
Kuan-Hui Xiang, Cheng-Yu Zhao, Shuai Wang, Yao Li, Ming-Ze Su, Qiang-Yi Wang, Xi-Zhan Xu, Juan Deng, Hui Zhuang, Tong Li
BACKGROUND: High genetic variability at reverse transcriptase (RT) region of hepatitis B virus (HBV) could confer resistance to nucleos(t)ide analogues (NUCs). The aim of this study was to identify new RT amino acid (AA) substitutions related to NUCs resistance. METHODS: HBV RT sequences of genotype C from 501 chronic hepatitis B (CHB) patients were analyzed to identify potential RT substitutions related to NUCs resistance. In vitro studies without and with NUCs were performed in HepG2 cell line transfected by clones with RT harboring wild-type or substituted AA(s) of interest...
April 25, 2017: Antiviral Therapy
https://www.readbyqxmd.com/read/28440753/is-hla-the-cause-of-the-high-incidence-of-type-1-diabetes-in-the-canary-islands-results-from-the-type-1-diabetes-genetics-consortium-t1dgc
#8
Angelo Santana Del Pino, Nathan Medina-Rodríguez, Marta Hernández-García, Francisco J Nóvoa-Mogollón, Ana M Wägner
INTRODUCTION: Incidence of childhood-onset type 1 diabetes mellitus in the Canary Islands is the highest reported so far in Spain, and among the highest worldwide. The HLA region accounts for approximately half the genetic risk of type 1 diabetes. Our aim was to assess distribution of high-risk and protective HLA haplotypes in the Canarian families included in the T1DGC, as compared to the rest of Spain. METHODS: The T1DGC study, an international project to study the genetics and pathogenesis of type 1 diabetes, enrolled more than 3000 families with type 1 diabetes worldwide...
March 2017: Endocrinol Diabetes Nutr
https://www.readbyqxmd.com/read/28440597/external-quality-assessment-for-laboratory-testing-of-hla-b-15-02-allele-in-relation-to-carbamazepine-therapy
#9
Guigao Lin, Kuo Zhang, Yanxi Han, Jiehong Xie, Jinming Li
BACKGROUND: Due to the significant risk of developing Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN), the use of carbamazepine is not recommended in patients carrying the human leukocyte antigen B (HLA-B) *15:02 allele. In an effort to guarantee reliable community-based HLA-B*15:02 testing throughout China, a HLA-B*15:02 genotyping external quality assessment (EQA) program was set up. METHODS: In 2016, 10 genomic DNA samples with known HLA-B*15:02 allele status were sent to 37 laboratories from 16 provinces with a request for routine HLA-B*15:02 screening...
April 25, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28440418/two-novel-mutations-in-ercc6-cause-cockayne-syndrome-b-in-a-chinese-family
#10
Chunxia He, Mao Sun, Guoxia Wang, Ying Yang, Libo Yao, Yuanming Wu
Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized principally by progressive growth failure, neurologic abnormality and premature aging. Mutations of excision repair cross‑complementation group 6 (ERCC6) and ERCC8 are predominantly responsible for CS, of which mutation of ERCC6 accounts for approximately two thirds of cases. The current report describes two siblings with severe neurologic abnormality and premature aging. Whole exome sequencing identified two novel mutations in ERCC6 that had not been previously reported...
April 20, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28440412/a-rare-fanca-gene-variation-as-a-breast-cancer-susceptibility-allele-in-an-iranian-population
#11
Sakineh Abbasi, Mina Rasouli
Fanconi Anemia (FA) is an autosomal recessive syndrome characterized by congenital abnormalities, progressive bone marrow failure and Fanconi anemia complementation group A (FANCA) is also a potential breast and ovarian cancer susceptibility gene. A novel allele with tandem duplication of 13 base pair sequence in promoter region was identified. To investigate whether the 13 base pair sequence of tandem duplication in promoter region of the FANCA gene is of high penetrance in patients with breast cancer and to determine if the presence of the duplicated allele was associated with an altered risk of breast cancer, the present study screened DNA in blood samples from 304 breast cancer patients and 295 normal individuals as controls...
April 20, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28440407/effects-of-cytochrome-p450-family-3-subfamily-a-member%C3%A2-5-gene-polymorphisms-on-daunorubicin-metabolism-and-adverse-reactions-in-patients-with-acute-leukemia
#12
Zhen Huang, Juxiang Wang, Jiangchao Qian, Yuan Li, Zhisheng Xu, Min Chen, Hongfei Tong
The present study aimed to investigate the association between the genetic polymorphism of cytochrome P450 family 3 subfamily A member 5 (CYP3A5) and the activity of CYP3A and plasma concentrations of daunorubicin (DNR) in patients with acute leukemia. A total of 36 children with newly diagnosed acute lymphoblastic leukemia were enrolled in the study. Polymerase chain reaction (PCR)‑restriction fragment length polymorphism and PCR product sequencing were used to detect the genotype of CYP3A5*3. PCR was then used to express the mRNA expression of CYP3A5...
April 12, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28440406/associations-of-maternal-pla2g4c-and-pla2g4d-polymorphisms-with-the-risk-of-spontaneous-preterm-birth-in-a-chinese-population
#13
Guang-Jian Liu, Jian-Rong He, Ya-Shu Kuang, Xue-Jiao Fan, Wei-Dong Li, Jin-Hua Lu, Xiao-Yan Xia, Xiao-Dan Liu, Nian-Nian Chen, Wei-Bi Mai, Hui-Min Xia, Xiu Qiu
Preterm birth is the leading cause of mortality and morbidity in infants. Its etiology is multifactorial with genes and immune homeostasis. The authors investigated whether prostaglandin (PG) synthesis related single nucleotide polymorphisms (SNPs) PLA2G4C rs1366442 and PLA2G4D rs4924618 were associated with the risk of spontaneous preterm birth (SPTB) in a Chinese population of 114 cases of SPTB and 250 controls of term delivery. The risk associations were determined by odds ratios (ORs) and their 95% confidence intervals (CIs) calculated using multivariate logistic regression...
April 12, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28439856/the-generation-of-doubled-haploid-lines-for-qtl-mapping
#14
Daniele L Filiault, Danelle K Seymour, Ravi Maruthachalam, Julin N Maloof
Recombinant inbred lines (RILs) are an essential tool for quantitative trait locus (QTL) mapping in Arabidopsis thaliana. Conventionally, the development of these lines is a time-consuming and tedious process requiring six to eight generations of selfing. Here, we describe an alternative approach: the rapid generation of RILs in A. thaliana via the creation of doubled haploids. In this method, F1 plants are crossed to an engineered haploid inducer to produce haploid plants. The chromosomes of these haploids then spontaneously double, generating immortalized homozygous F2 lines called doubled haploid RILs (DH RILs)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28439478/development-of-microsatellite-loci-in-mediterranean-sarsaparilla-smilax-aspera-smilacaceae-using-transcriptome-data
#15
Zhe-Chen Qi, Chao Shen, Yu-Wei Han, Wei Shen, Man Yang, Jinliang Liu, Zong-Suo Liang, Pan Li, Cheng-Xin Fu
PREMISE OF THE STUDY: Although several microsatellite markers of Smilax aspera (Smilacaceae) have been reported in a previous study, due to universality issues in cross-population amplification, we have newly developed microsatellite markers for S. aspera based on transcriptome data to further investigate gene flow and genetic structure of its circum-Mediterranean, East African, and South Asian populations. METHODS AND RESULTS: A total of 4854 simple sequence repeat (SSR) primer pairs were designed from 99,193 contigs acquired from public transcriptome data of S...
April 2017: Applications in Plant Sciences
https://www.readbyqxmd.com/read/28439397/transcriptomic-analysis-of-maternally-provisioned-cues-for-phenotypic-plasticity-in-the-annual-killifish-austrofundulus-limnaeus
#16
Amie L Romney, Jason E Podrabsky
BACKGROUND: Genotype and environment can interact during development to produce novel adaptive traits that support life in extreme conditions. The development of the annual killifish Austrofundulus limnaeus is unique among vertebrates because the embryos have distinct cell movements that separate epiboly from axis formation during early development, can enter into a state of metabolic dormancy known as diapause and can survive extreme environmental conditions. The ability to enter into diapause can be maternally programmed, with young females producing embryos that do not enter into diapause...
2017: EvoDevo
https://www.readbyqxmd.com/read/28439286/snp-discovery-and-genetic-variation-of-candidate-genes-relevant-to-heat-tolerance-and-agronomic-traits-in-natural-populations-of-sand-rice-agriophyllum-squarrosum
#17
Pengshan Zhao, Jiwei Zhang, Chaoju Qian, Qin Zhou, Xin Zhao, Guoxiong Chen, Xiao-Fei Ma
The extreme stress tolerance and high nutritional value of sand rice (Agriophyllum squarrosum) make it attractive for use as an alternative crop in response to concerns about ongoing climate change and future food security. However, a lack of genetic information hinders understanding of the mechanisms underpinning the morphological and physiological adaptations of sand rice. In the present study, we sequenced and analyzed the transcriptomes of two individuals representing semi-arid [Naiman (NM)] and arid [Shapotou (SPT)] sand rice genotypes...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28439278/exploration-of-elite-stilbene-synthase-alleles-for-resveratrol-concentration-in-wild-chinese-vitis-spp-and-vitis-cultivars
#18
Xianbo Zheng, Jiangli Shi, Yinmei Yu, Yanlong Shen, Bin Tan, Xia Ye, Jidong Li, Jiancan Feng
Resveratrol contributes to a plant's tolerance of various abiotic and biotic stresses and is highly beneficial to human health. A search for elite alleles affecting resveratrol production was undertaken to find useful grapevine germplasm resources. Resveratrol levels in both berry skins and leaves were determined in 95 grapevine accessions (including 50 wild Chinese grapevine accessions and 45 cultivars) during two consecutive years. Resveratrol contents were higher in berry skins than in leaves and in wild Chinese grapevines than in grapevine cultivars...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28438945/multi-hospital-occurrence-of-pan-resistant-klebsiella-pneumoniae-st147-with-an-isecp1-directed-blaoxa-181-insertion-into-the-mgrb-gene-in-the-united-arab-emirates
#19
Ágnes Sonnevend, Akela Ghazawi, Rayhan Hashmey, Aliasgher Haidermota, Safinaz Girgis, Mubarak Alfaresi, Mohammed Omar, David L Paterson, Hosam M Zowawi, Tibor Pál
The emergence of pan-resistant Klebsiella pneumoniae strains is an increasing concern. In the current study we describe a cluster of 9 pan-resistant K. pneumoniae ST147 isolates encountered in 4 patients over nearly one year in 3 hospitals of the United Arab Emirates. The isolates exhibited highly similar genotypes. All produced chromosomally encoded OXA-181 and the majority also produced the NDM-5 carbapenemase. Similarly to the previously described single isolate from the UAE, MS6671, the mgrB was disrupted by a functional, ISEcp1-driven blaOXA-181 insertion causing resistance to carbapenems...
April 24, 2017: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/28438670/epidemiological-features-and-genetic-characterization-of-virus-strains-in-rotavirus-associated-gastroenteritis-in-children-of-odisha-in-eastern-india
#20
Eileena Mohanty, Bhagirathi Dwibedi, S K Kar, A S Acharya
We have studied the clinical characteristics, severity and seasonality of rotavirus infection and prevalent genotypes in 652 non-rota vaccinated children in Odisha in eastern India. P genotypes were analysed for their association with host blood group antigens. P type of the virus is determined by the VP8* gene, and specific recognition of A - type of Histo - blood group antigen by P[14]VP8* has been reported. VP4, VP7 and VP6 genes of commonly identified G1P[8] strain were compared with genes of the same strain isolated from other parts of India, elsewhere and strains used for Rotarix and Rotateq vaccines...
April 21, 2017: Infection, Genetics and Evolution
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