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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/28441709/association-of-cyp3a5-3-and-cyp1a1-2c-polymorphism-with-development-of-acute-myeloid-leukemia-in-egyptian-patients
#3
Nahed Abd El Wahab, Nevine F Shafik, Roxan E Shafik, Sherin A Taha, Hanan E Shafik, Amira D Darwish
Aim: Cytochrome P450 (CYP) enzyme catalyzes the phase I metabolism reaction which metabolize endogenous and exogenous DNA-reactive chemical compounds and xenobiotics which could induce genotoxicity and increase the risk for leukemia. We aimed to detect frequency of CYP3A5*3 and CYP1A1*2C polymorphisms in Egyptian acute myeloid leukemia (AML) patients and to determine role of allele’s variants as a risk factor for developing leukemia. Patients and Methods: A case-control study was conducted on seventy acute myeloid leukemia patients and thirty control subjects...
March 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28441666/a-microrna-124-polymorphism-is-associated-with-fracture-healing-via-modulating-bmp6-expression
#4
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/28441463/rapidsnps-a-new-computational-pipeline-for-rapidly-identifying-key-genetic-variants-reveals-previously-unidentified-snps-that-are-significantly-associated-with-individual-platelet-responses
#5
Bajuna Rashid Salehe, Chris Ian Jones, Giuseppe Di Fatta, Liam James McGuffin
Advances in omics technologies have led to the discovery of genetic markers, or single nucleotide polymorphisms (SNPs), that are associated with particular diseases or complex traits. Although there have been significant improvements in the approaches used to analyse associations of SNPs with disease, further optimised and rapid techniques are needed to keep up with the rate of SNP discovery, which has exacerbated the 'missing heritability' problem. Here, we have devised a novel, integrated, heuristic-based, hybrid analytical computational pipeline, for rapidly detecting novel or key genetic variants that are associated with diseases or complex traits...
2017: PloS One
https://www.readbyqxmd.com/read/28441362/real-world-experiences-with-the-combination-treatment-of-ledipasvir-plus-sofosbuvir-for-12-weeks-in-hcv-genotype-1-infected-japanese-patients-achievement-of-a-sustained-virological-response-in-previous-users-of-peginterferon-plus-ribavirin-with-hcv-ns3-4a-inhibitors
#6
Tatsuo Kanda, Shin Yasui, Masato Nakamura, Eiichiro Suzuki, Makoto Arai, Yoshihiko Ooka, Sadahisa Ogasawara, Tetsuhiro Chiba, Tomoko Saito, Yuki Haga, Koji Takahashi, Reina Sasaki, Shuang Wu, Shingo Nakamoto, Akinobu Tawada, Hitoshi Maruyama, Fumio Imazeki, Naoya Kato, Osamu Yokosuka
The aim of this study was to characterize the treatment response and serious adverse events of ledipasvir plus sofosbuvir therapies in Japanese patients infected with hepatitis C virus (HCV) genotype 1 (GT1). This retrospective study analyzed 240 Japanese HCV GT1 patients treated for 12 weeks with 90 mg of ledipasvir plus 400 mg of sofosbuvir daily. Sustained virological response at 12 weeks post-treatment (SVR12) was achieved in 236 of 240 (98.3%) patients. Among treatment-naïve patients, SVR12 was achieved in 136 of 138 (98...
April 25, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28441070/the-thr300ala-variant-of-atg16l1-is-associated-with-decreased-risk-of-brain-metastasis-in-patients-with-non-small-cell-lung-cancer
#7
Qian-Xia Li, Xiao Zhou, Ting-Ting Huang, Yang Tang, Bo Liu, Ping Peng, Li Sun, Yi-Hua Wang, Xiang-Lin Yuan
Non-small cell lung cancer (NSCLC) often metastasizes to the brain, but identifying which patients will develop brain metastases (BM) is difficult. Macroautophagy/autophagy is critical for cancer initiation and progression. We hypothesized that genetic variants of autophagy-related genes may affect brain metastases (BM) in NSCLC patients. We genotyped 16 single nucleotide polymorphisms (SNPs) in 7 autophagy-related (ATG) genes (ATG3, ATG5, ATG7, ATG10, ATG12, ATG16L1, and MAP1LC3/LC3) by using DNA from blood samples of 323 NSCLC patients...
April 25, 2017: Autophagy
https://www.readbyqxmd.com/read/28440964/effect-of-b9-and-b12-vitamin-intake-on-semen-parameters-and-fertility-of-men-with-mthfr-polymorphisms
#8
R Najafipour, S Moghbelinejad, A Aleyasin, A Jalilvand
The methylenetetrahydrofolate reductase (MTHFR) gene codes a crucial enzyme which involve in folate metabolism. The effect of MTHFR gene polymorphisms on male fertility status is uncertain and controversial. We evaluated the effect of B vitamin family intake on total homocysteine content and semen parameters of men with MTHFR gene polymorphisms. MTHFR genotypes frequency and serum total homocysteine concentration were measured among 280 men with impaired spermatogenesis (asthenospermia, oligospermia, severe oligospermia and azoospermia) and 85 control participants...
April 25, 2017: Andrology
https://www.readbyqxmd.com/read/28440912/performance-of-in-silico-tools-for-the-evaluation-of-p16ink4a-cdkn2a-variants-in-cagi
#9
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
#10
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
#11
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
#12
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
#13
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/28440692/both-hepatitis-c-virus-specific-t-cell-responses-and-il28b-rs12979860-single-nucleotide-polymorphism-genotype-influence-antihepatitis-c-virus-treatment-outcome-in-patients-with-chronic-hepatitis-c
#14
José M Benito, Javier García-Samaniego, Marcial García, Antonio Madejón, Luz Martín-Carbonero, Alfonso Cabello, Beatriz Álvarez, Miguel Górgolas, Norma Rallón
Despite new treatments for hepatitis C virus (HCV) infection, IFNα-based regimens still have clinical relevance in special populations of patients and remain the only therapeutic option for many patients. We sought to elucidate the interplay between two relevant factors (IL28B polymorphism and T cell immune responses) involved in the outcome of this therapy in HCV-infected patients. We evaluated 38 patients infected with HCV genotype 1-17 coinfected with HIV-who were undergoing a full course of pegIFNα/RBV therapy...
April 25, 2017: Journal of Interferon & Cytokine Research
https://www.readbyqxmd.com/read/28440681/discovery-and-preclinical-development-of-dasabuvir-for-the-treatment-of-hepatitis-c-infection
#15
Mohamed El Kassas, Tamer Elbaz, Enas Hafez, Mohamed Naguib Wifi, Gamal Esmat
Hepatitis C virus (HCV) is a leading cause of liver-related morbidity and mortality. Positively, the introduction of new directly-acting antivirals (DAAs) have led to dramatic improvements in response rates to antiviral therapy. Furthermore, newer generations of DAAs have demonstrated better safety profiles as well as efficacy than older generations. Current treatment recommendations are based on different combinations of DAAs. Current combination therapies rely on agents that target the different steps of viral replication by using different molecules from various DAAs families...
April 25, 2017: Expert Opinion on Drug Discovery
https://www.readbyqxmd.com/read/28440612/association-between-xrcc1-and-wrn-as-genetic-markers-of-stability-and-susceptibility-to-cancer-in-patients-with-hiv-aids-and-cancer-a-cross-sectional-study
#16
Gabriel de Carvalho Maldonado, Orlando Nascimento Terra Júnior, Adriano Arnóbio, Guilherme Rohem Alfradique, Maria Helena Ornellas, Roberto Irineu da Silva, Dirce Bonfim de Lima
Background: HIV-induced immunodeficiency has been implicated as a key factor for risk of cancer. Neoplasia is considered to result from accumulation of damage to the genome. Polymorphisms in repair genes, such as the XRCC1 and WRN, have been associated with susceptibility to development of cancer in patients with HIV/AIDS. The aim of this study was to analyze the frequency of polymorphisms in XRCC1 (Arg399Gln) and WRN (Cys1367Arg) in patients with HIV/AIDS with or without cancer. Materials and Methods: Genotyping for analysis of polymorphisms was carried out by PCR (Polymerase Chain Reaction) and RFLP (Restriction Fragment Length Polymorphism)...
March 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28440597/external-quality-assessment-for-laboratory-testing-of-hla-b-15-02-allele-in-relation-to-carbamazepine-therapy
#17
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/28440541/digest-plasticity-responses-help-in-coping-with-predation-in-nature
#18
Laura R Stein, Yuheng Huang
Phenotypic plasticity is a widespread phenomenon in which one genotype produces different phenotypes under different environmental conditions. Whether plasticity is adaptive or not depends on the optimal phenotypic value in each environment (Via 1993). Adaptive plasticity is expected to align with the direction of selective gradients, moving traits closer to the optima (Fig. 1A). Likewise, if the optimal values are similar in both environments, plasticity may be non-adaptive, opposing the directions of selective gradients (Fig...
April 25, 2017: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/28440418/two-novel-mutations-in-ercc6-cause-cockayne-syndrome-b-in-a-chinese-family
#19
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
#20
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
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