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https://www.readbyqxmd.com/read/28107688/sequencing-and-de-novo-assembly-of-visceral-mass-transcriptome-of-the-critically-endangered-land-snail-satsuma-myomphala-annotation-and-ssr-discovery
#1
Se Won Kang, Bharat Bhusan Patnaik, Hee-Ju Hwang, So Young Park, Jong Min Chung, Dae Kwon Song, Hongray Howrelia Patnaik, Jae Bong Lee, Changmu Kim, Soonok Kim, Young-Su Park, Hong Seog Park, Seung-Hwan Park, Yeon Soo Han, Jun Sang Lee, Yong Seok Lee
Satsuma myomphala is critically endangered through loss of natural habitats, predation by natural enemies, and indiscriminate collection. It is a protected species in Korea but lacks genomic resources for an understanding of varied functional processes attributable to evolutionary success under natural habitats. For assessing the genetic information of S. myomphala, we performed for the first time, de novo transcriptome sequencing and functional annotation of expressed sequences using Illumina Next-Generation Sequencing (NGS) platform and bioinformatics analysis...
October 29, 2016: Comparative Biochemistry and Physiology. Part D, Genomics & Proteomics
https://www.readbyqxmd.com/read/28107432/ongoing-speciation-and-gene-flow-between-taxonomically-challenging-trochulus-species-complex-gastropoda-hygromiidae
#2
Małgorzata Proćków, Tomasz Strzała, Elżbieta Kuźnik-Kowalska, Jarosław Proćków, Paweł Mackiewicz
Geographical isolation, selection and genetic drift can cause the geographical diversification of populations and lead to speciation. Land snail species in the genus Trochulus show overlaps in geographical ranges as well as in morphology, but genetic data do not always support the species-level taxonomy based on morphological characters. Such a group offers an excellent opportunity to explore the processes involved. We have addressed the problem by determining the status of the restricted endemic T. graminicola within the larger context of Trochulus taxonomy...
2017: PloS One
https://www.readbyqxmd.com/read/28107384/an-approach-to-elucidate-nbs1-function-in-dna-repair-using-frequent-nonsynonymous-polymorphism-in-wild-medaka-oryzias-latipes-populations
#3
Kento Igarashi, Junya Kobayashi, Takafumi Katsumura, Yusuke Urushihara, Kyohei Hida, Tomomi Watanabe-Asaka, Hiroki Oota, Shoji Oda, Hiroshi Mitani
Nbs1 is one of the genes responsible for Nijmegen breakage syndrome, which is marked with high radiosensitivity. In human NBS1 (hNBS1), Q185E polymorphism is known as the factor to cancer risks, although its DSB repair defect has not been addressed. Here we investigated the genetic variations in medaka (Oryzias latipes) wild populations, and found 40 nonsynonymous single nucleotide polymorphisms (SNPs) in medaka nbs1 (olnbs1) gene within 5 inbred strains. A mutation to histidine in Q170 residue in olNbs1, which corresponds to Q185 residue of hNBS1, was widely distributed in the closed colonies derived from the eastern Korean population of medaka...
2017: PloS One
https://www.readbyqxmd.com/read/28107061/the-evolution-of-reproductive-phenology-in-broadcast-spawners-and-the-maintenance-of-sexually-antagonistic-polymorphism
#4
Colin Olito, Dustin J Marshall, Tim Connallon
Reproductive phenology is a crucial life-history trait that evolves in response to external environmental conditions and frequency- and density-dependent interactions within species. Broadcast spawners-which represent a large fraction of aquatic biodiversity-evolve phenologies that balance strong density-dependent fertilization success against abiotic environmental conditions that are required for successful reproduction. The overall balance between these processes may be particularly complex in dioecious species, where selection on reproductive timing potentially differs between the sexes...
February 2017: American Naturalist
https://www.readbyqxmd.com/read/28106810/genetic-aspects-of-susceptibility-to-mercury-toxicity-an-overview
#5
REVIEW
Virginia Andreoli, Francesca Sprovieri
Human exposure to mercury is still a major public health concern. In this context, children have a higher susceptibility to adverse neurological mercury effects, compared to adults with similar exposures. Moreover, there exists a marked variability of personal response to detrimental mercury action, in particular among population groups with significant mercury exposure. New scientific evidence on genetic backgrounds has raised the issue of whether candidate susceptibility genes can make certain individuals more or less vulnerable to mercury toxicity...
January 18, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28106707/association-study-between-polymorphisms-of-the-p53-and-lymphotoxin-alpha-lta-genes-and-the-risk-of-proliferative-vitreoretinopathy-retinal-detachment-in-a-mexican-population
#6
Natalia Quiroz-Casian, David Lozano-Giral, Antonio Miranda-Duarte, Ivan Garcia-Montalvo, Jose L Rodriguez-Loaiza, Juan C Zenteno
PURPOSE: To report the results of an association study between single-nucleotide polymorphisms of the p53 and LTA genes and the risk of proliferative vitreoretinopathy (PVR)/retinal detachment (RD) in a Mexican cohort. METHODS: A total of 380 unrelated subjects were studied, including 98 patients with primary rhegmatogenous RD without PVR, 82 patients with PVR after RD surgery, and 200 healthy, ethnically matched subjects. Genotyping of single-nucleotide polymorphisms rs1042522 (p53 gene) and rs2229094 (LTA gene) was performed by direct nucleotide sequencing...
January 18, 2017: Retina
https://www.readbyqxmd.com/read/28106538/a-polymorphism-in-mir-34b-c-as-a-potential-biomarker-for-early-onset-of-hereditary-retinoblastoma
#7
Ivna N S R Carvalho, Adriana H O Reis, Anna C E Dos Santos, Fernando R Vargas
BACKGROUND: Retinoblastoma (RB) is a malignant pediatric tumor and, mainly because of late diagnosis, most patients undergo enucleation. The tumor almost always initiates by two inactivation events at the RB1 gene. Single nucleotide polymorphisms (SNPs) in p53 pathway have been found to represent genetic modifiers of RB. OBJECTIVE: To investigate whether a SNP (rs4938723T > C) in mir-34b/c gene, a key effector of p53, could influence RB risk and patients' age of onset...
January 13, 2017: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/28106497/association-of-renin-angiotensin-system-genetic-polymorphisms-and-aneurysmal-subarachnoid-hemorrhage
#8
Christoph J Griessenauer, R Shane Tubbs, Paul M Foreman, Michelle H Chua, Nilesh A Vyas, Robert H Lipsky, Mingkuan Lin, Ramaswamy Iyer, Rishikesh Haridas, Beverly C Walters, Salman Chaudry, Aisana Malieva, Samantha Wilkins, Mark R Harrigan, Winfield S Fisher, Mohammadali M Shoja
OBJECTIVE Renin-angiotensin system (RAS) genetic polymorphisms are thought to play a role in cerebral aneurysm formation and rupture. The Cerebral Aneurysm Renin-Angiotensin System (CARAS) study prospectively evaluated common RAS polymorphisms and their relation to aneurysmal subarachnoid hemorrhage (aSAH). METHODS The CARAS study prospectively enrolled aSAH patients and controls at 2 academic centers in the United States. A blood sample was obtained from all patients for genetic evaluation and measurement of plasma angiotensin-converting enzyme (ACE) concentration...
January 20, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28105927/candidate-snp-markers-of-aggressiveness-related-complications-and-comorbidities-of-genetic-diseases-are-predicted-by-a-significant-change-in-the-affinity-of-tata-binding-protein-for-human-gene-promoters
#9
Irina V Chadaeva, Mikhail P Ponomarenko, Dmitry A Rasskazov, Ekaterina B Sharypova, Elena V Kashina, Marina Yu Matveeva, Tatjana V Arshinova, Petr M Ponomarenko, Olga V Arkova, Natalia P Bondar, Ludmila K Savinkova, Nikolay A Kolchanov
BACKGROUND: Aggressiveness in humans is a hereditary behavioral trait that mobilizes all systems of the body-first of all, the nervous and endocrine systems, and then the respiratory, vascular, muscular, and others-e.g., for the defense of oneself, children, family, shelter, territory, and other possessions as well as personal interests. The level of aggressiveness of a person determines many other characteristics of quality of life and lifespan, acting as a stress factor. Aggressive behavior depends on many parameters such as age, gender, diseases and treatment, diet, and environmental conditions...
December 28, 2016: BMC Genomics
https://www.readbyqxmd.com/read/28105631/association-of-genetic-variation-with-blood-pressure-traits-among-east-africans
#10
James Kayima, Jingjing Liang, Yanina Natanzon, Joaniter Nankabirwa, Isaac Ssinabulya, Jane Nakibuuka, Achilles Katamba, Harriet Mayanja-Kizza, Alexander Miron, Chun Li, Xiaofeng Zhu
Genetic variation may explain some of the disparity in prevalence and control of hypertension across sub-Saharan Africa. Twenty-seven blood pressure (BP) related single nucleotide polymorphisms (SNPs) were genotyped among 2881samples from participants in the MEPI-CVD survey. Associations with known BP variants were evaluated for SBP, DBP and PP as continuous variables and for HTN as a binary variable. Eleven SNPS were associated with at least one BP trait (P < 0.05). Four SNPs; rs2004776, rs7726475, rs11837544 and rs2681492 whose nearest genes are AGT, NPR3/SUB1, PLXNC1 and ATP2B1 respectively were associated with SBP...
January 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28105587/phenotype-specific-association-of-single-nucleotide-polymorphisms-with-heart-failure-and-preserved-ejection-fraction-a-genome-wide-association-analysis-of-the-cardiovascular-health-study
#11
David P Kao, Laura M Stevens, Michael A Hinterberg, Carsten Görg
Little is known about genetics of heart failure with preserved ejection fraction (HFpEF) in part because of the many comorbidities in this population. To identify single-nucleotide polymorphisms (SNPs) associated with HFpEF, we analyzed phenotypic and genotypic data from the Cardiovascular Health Study, which profiled patients using a 50,000 SNP array. Results were explored using novel SNP- and gene-centric tools. We performed analyses to determine whether some SNPs were relevant only in certain phenotypes...
January 19, 2017: Journal of Cardiovascular Translational Research
https://www.readbyqxmd.com/read/28104789/a-novel-humanized-mouse-model-of-huntington-disease-for-preclinical-development-of-therapeutics-targeting-mutant-huntingtin-alleles
#12
Amber L Southwell, Niels H Skotte, Erika B Villanueva, Michael E Østergaard, Xiaofeng Gu, Holly B Kordasiewicz, Chris Kay, Daphne Cheung, Yuanyun Xie, Sabine Waltl, Louisa Dal Cengio, Hailey Findlay-Black, Crystal N Doty, Eugenia Petoukhov, Diepiriye Iworima, Ramy Slama, Jolene Ooi, Mahmoud A Pouladi, William X Yang, Eric E Swayze, Punit P Seth, Michael R Hayden
Huntington disease (HD) is a neurodegenerative disease caused by a mutation in the huntingtin (HTT) gene. HTT is a large protein, interacts with many partners and is involved in many cellular pathways, which are perturbed in HD. Therapies targeting HTT directly are likely to provide the most global benefit. Thus there is a need for preclinical models of HD recapitulating human HTT genetics. We previously generated a humanized mouse model of HD, Hu97/18, by intercrossing BACHD and YAC18 mice with knockout of the endogenous mouse HD homolog (Hdh)...
January 18, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28104681/copy-number-variations-of-e2f1-a-new-genetic-risk-factor-for-testicular-cancer
#13
Maria Santa Rocca, Andrea Di Nisio, Arianna Marchiori, Marco Ghezzi, Giuseppe Opocher, Carlo Foresta, Alberto Ferlin
Testicular germ cell tumor (TGCT) is one of the most heritable forms of cancer. In last years many evidence suggested that constitutional genetic factors, mainly single nucleotide polymorphisms, can increase its risk. However, the possible contribution of copy-number variations (CNVs) in TGCT susceptibility has not been substantially addressed. Indeed, an increasing number of studies have focused on the effect of CNVs on gene expression and on the role of these structural genetic variations as risk factors for different forms of cancer...
January 19, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28104410/the-drd2-rs1076560-polymorphism-and-schizophrenia-related-intermediate-phenotypes-a-systematic-review-and-meta-analysis
#14
REVIEW
Jurjen J Luykx, Juliette L Broersen, Max de Leeuw
Intermediate phenotypes may contribute to elucidate the genetic determinants of schizophrenia. A regulatory dopamine 2-receptor gene (DRD2) polymorphism (rs1076560; G > T) has been identified as a genetic risk factor for schizophrenia. Studies report conflicting results on its involvement in schizophrenia intermediate phenotypes and no systematic review on this topic has been published. Therefore, we aimed to assess whether this polymorphism is implicated in schizophrenia intermediate phenotypes by performing a systematic review and meta-analysis...
January 16, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28103905/spatio-temporal-analysis-of-the-genetic-diversity-and-complexity-of-plasmodium-falciparum-infections-in-kedougou-southeastern-senegal
#15
Makhtar Niang, Laty G Thiam, Cheikh Loucoubar, Abdourahmane Sow, Bacary D Sadio, Mawlouth Diallo, Amadou A Sall, Aissatou Toure-Balde
BACKGROUND: Genetic analyses of the malaria parasite population and its temporal and spatial dynamics could provide an assessment of the effectiveness of disease control strategies. The genetic diversity of Plasmodium falciparum has been poorly documented in Senegal, and limited data are available from the Kedougou Region. This study examines the spatial and temporal variation of the genetic diversity and complexity of P. falciparum infections in acute febrile patients in Kedougou, southeastern Senegal...
January 19, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/28103844/genetic-risk-score-and-risk-of-stage-3-chronic-kidney-disease
#16
Jiantao Ma, Qiong Yang, Shih-Jen Hwang, Caroline S Fox, Audrey Y Chu
BACKGROUND: We developed a genetic risk score (GRS) and examined whether the GRS may predict incident stage 3 chronic kidney disease (CKD) independent of common clinical risk factors. METHOD: The present study included 2,698 individuals who attended the 15th (1977 to 1979) and the 24th exams (1995 to 1998) in the Framingham Original cohort or the 6th (1995 to 1998) and the 8th exams (2005 to 2008) in the Framingham Offspring cohort. A weighted GRS was constructed combining 53 single nucleotide polymorphisms (SNPs) associated with lower creatinine-based estimated glomerular filtration rate (eGFR)...
January 19, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28103821/genetic-polymorphisms-of-scn9a-are-associated-with-oxaliplatin-induced-neuropathy
#17
María Sereno, Gerardo Gutiérrez-Gutiérrez, Juan Moreno Rubio, María Apellániz-Ruiz, Lara Sánchez-Barroso, Enrique Casado, Sandra Falagan, Miriam López-Gómez, María Merino, César Gómez-Raposo, Nuria Rodriguez-Salas, Francisco Zambrana Tébar, Cristina Rodríguez-Antona
BACKGROUND: Oxaliplatin is a chemotherapy agent active against digestive tumors. Peripheral neuropathy is one of the most important dose-limiting toxicity of this drug. It occurs in around 60-80% of the patients, and 15% of them develop severe neuropathy. The pathophysiology of oxaliplatin neurotoxicity remains unclear. SCN9A is a gene codifying for a subtype sodium channel (type IX, subunit α) and mutations in this gene are involved in neuropathic perception. In this study we investigated whether SCN9A genetic variants were associated with risk of neurotoxicity in patients diagnosed of cancer on treatment with oxaliplatin...
January 19, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28103273/association-between-genetic-polymorphisms-in-interleukin-genes-and-recurrent-pregnancy-loss-a-systematic-review-and-meta-analysis
#18
Meixiang Zhang, Jiawei Xu, Xiao Bao, Wenbin Niu, Linlin Wang, Linqing Du, Nan Zhang, Yingpu Sun
Interleukins are a group of immunomodulatory proteins that mediate a variety of immune reactions in the human body. To investigate the association between interleukin gene polymorphisms and recurrent pregnancy loss (RPL), we reviewed 21 studies from MEDLINE, EMBASE, OVID SP and PubMed to evaluate RPL-related interleukin gene polymorphisms. Meta-analysis was performed on 12 of the polymorphisms, and a review included the others. Our integrated results indicated that IL-1β (-511C/T) (P = 0.02, 95% CI 0.77[0...
2017: PloS One
https://www.readbyqxmd.com/read/28103253/polymorphisms-in-htr2a-and-drd4-predispose-to-smoking-and-smoking-quantity
#19
Gloria Pérez-Rubio, Alejandra Ramírez-Venegas, Valeri Noé Díaz, Leonor García Gómez, Karina Elvira Fabián, Salvador García Carmona, Luis A López-Flores, Enrique Ambrocio-Ortiz, Rocío Contreras Romero, Noé Alcantar-Ayala, Raúl H Sansores, Ramcés Falfán-Valencia
BACKGROUND: Genes encoding the receptors involved in the dopaminergic and serotonergic pathways are potential candidates in the mechanisms of nicotine addiction. AIMS: To identify genetic variants in the promoter regions and exons of the DRD4 and HTR2A genes associated with tobacco smoking and the degree of nicotine addiction in Mexican mestizos. METHODS: The study included 438 non-smokers (NS) and 1,157 current smokers, ranked based on their consumption of cigarettes per day (cpd): 574 heavy smokers (HS, >20 cpd) and 583 light smokers (LS, 1-10 cpd)...
2017: PloS One
https://www.readbyqxmd.com/read/28103238/weak-genetic-structure-in-northern-african-dromedary-camels-reflects-their-unique-evolutionary-history
#20
Youcef Amine Cherifi, Suheil Bechir Semir Gaouar, Rosangela Guastamacchia, Khalid Ahmed El-Bahrawy, Asmaa Mohammed Aly Abushady, Abdoallah Aboelnasr Sharaf, Derradji Harek, Giovanni Michele Lacalandra, Nadhira Saïdi-Mehtar, Elena Ciani
Knowledge on genetic diversity and structure of camel populations is fundamental for sustainable herd management and breeding program implementation in this species. Here we characterized a total of 331 camels from Northern Africa, representative of six populations and thirteen Algerian and Egyptian geographic regions, using 20 STR markers. The nineteen polymorphic loci displayed an average of 9.79 ± 5.31 alleles, ranging from 2 (CVRL8) to 24 (CVRL1D). Average He was 0.647 ± 0.173. Eleven loci deviated significantly from Hardy-Weinberg proportions (P<0...
2017: PloS One
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