keyword
MENU ▼
Read by QxMD icon Read
search

Polymorphisms

keyword
https://www.readbyqxmd.com/read/29166501/primary-cutaneous-t-cell-lymphoma-experience-from-the-peruvian-national-cancer-institute
#1
Rosana Ruiz, Zaida Morante, Raul Mantilla, Luis Mas, Luis Casanova, Henry L Gomez
BACKGROUND: Primary cutaneous T-cell lymphomas constitute a heterogeneous and rare group of diseases with regional particularities in Latin America. OBJECTIVE: To determine the clinicopathological features, relative frequency and survival among patients from a Peruvian institution. METHODS: Primary cutaneous T-cell lymphomas were defined based on the absence of extracutaneous disease at diagnosis. Classification was performed following the 2008 World Health Organization Classification of Neoplasms of the Hematopoietic and Lymphoid tissues...
September 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29166126/nutrient-sensing-biology-in-mammals-and-birds
#2
Eugeni Roura, Simon R Foster
Nutrient sensing mechanisms have emerged as the fringe articulating nutritional needs with dietary choices. Carbohydrate, amino acid, fatty acid, mineral, and water sensing receptors are highly conserved across mammals and birds, consisting of a repertoire of 22 genes known to date. In contrast, bitter receptors are highly divergent and have a high incidence of polymorphisms within and between mammals and birds and are involved in the adaptation of species to specific environments. In addition, the expression of nutrient sensing genes outside the oral cavity seems to mediate the required decision-making dialogue between the gut and the brain by translating exogenous chemical stimuli into neuronal inputs, and vice versa, to translate the endogenous signals relevant to the nutritional status into specific appetites and the control of feed intake...
November 20, 2017: Annual Review of Animal Biosciences
https://www.readbyqxmd.com/read/29166045/controlling-relative-polymorph-stability-in-soft-porous-crystals-with-a-barostat
#3
Nathan A Mahynski, Vincent K Shen
We use Monte Carlo simulations to investigate the thermodynamic behavior of soft porous crystal (SPC) adsorbents under the influence of an external barostat. We consider SPCs that naturally exhibit polymorphism between crystal forms of two distinct pore sizes. In the absence of barostatting, these crystals may be naturally divided into two categories depending on their response to stress applied by the adsorbate fluid: those which macroscopically deform and change the volume of their unit cell ("breathing") and those which instead undergo internal rearrangements that change the adsorbate-accessible volume without modifying the unit cell volume ("gate-opening")...
June 14, 2017: Journal of Chemical Physics
https://www.readbyqxmd.com/read/29165854/mmp-3-1171-5a-6a-lys45glu-variants-affect-serum-levels-of-matrix-metalloproteinase-mmp-3-and-correlate-with-severity-of-copd-a-study-of-mmp-3-mmp-7-and-mmp-12-in-a-tunisian-population
#4
Sarra Bchir, Hela Ben Nasr, Abdelhamid Garrouch, Amel Ben Anes, Ammar Abbassi, Zouhair Tabka, Karim Chahed
OBJECTIVE: The goal of this study was to examine the role of MMP-3 (-1171 5A/6A; Lys45Glu (A/G)), MMP-7 (-181) A/G and MMP-12 (-82 A/G; Asn357Ser (A/G)) variants in the development and severity of chronic obstructive pulmonary disease (COPD) in Tunisians. METHODS: Plethysmography was performed in all participants to measure FEV1, FVC and FEV1/FVC parameters. Genotyping of MMP-3, MMP-7 and MMP-12 polymorphisms was carried out in 138 patients with COPD and 216 healthy controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)...
November 22, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/29165755/research-on-the-correlation-between-the-fibrinogen-%C3%AE-and-attack-of-pediatric-pneumonia
#5
G Liu, H-W Wu, Z-G Li
OBJECTIVE: To investigate the correlation of the gene polymorphism of β-148C/T of fibrinogen with the expression of fibrinogen and the attack of pediatric pneumonia. PATIENTS AND METHODS: We employed polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to detect the gene polymorphism of beta-fibrinogen gene-148C/T (β-148C/T). The expression level of fibrinogen in plasma was measured using enzyme-linked immunosorbent assay (ELISA), and the expression level of fibrinogen β protein was determined using Western-blot method...
October 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29165731/effects-of-the-actn3-r577x-genotype-on-the-muscular-strength-and-range-of-motion-before-and-after-eccentric-contractions-of-the-elbow-flexors
#6
Naoki Kikuchi, Yosuke Tsuchiya, Koichi Nakazato, Naokata Ishii, Eisuke Ochi
The purpose of present study was to examine the association between ACTN3 R577X genotype and functional characteristics of elbow flexors before and after isokinetic eccentric contractions (ECCs). Fifty-two men (age: 20.8±3.8 years, height: 172.5±5.9 cm, body mass: 64.7±6.5 kg, BMI: 21.7±1.7) who had not participated in any regular resistance training for at least 1 year prior to this study were recruited. ECCs consisted of five sets of six maximal voluntary isokinetic (30°/s) ECCs of the elbow flexors with a range of motion (ROM) from 90° flexion to 0° (full extension)...
November 17, 2017: International Journal of Sports Medicine
https://www.readbyqxmd.com/read/29165714/blood-lipid-genetic-scores-the-hmgcr-gene-and-cancer-risk-a-mendelian-randomization-study
#7
Marju Orho-Melander, George Hindy, Signe Borgquist, Christina-Alexandra Schulz, Jonas Manjer, Olle Melander, Tanja Stocks
Background: It is unclear whether there are causal associations between blood lipids, statin use and cancer risks. Under certain assumptions, Mendelian randomization analysis of a genetic marker for an exposure eliminates reverse causation and confounding. Methods: We applied Mendelian randomization analysis to genetic scores, comprising 26-41 single-nucleotide polymorphisms (SNPs), as instrumental variables (IVs) for triglycerides and low- and high-density lipoprotein cholesterol (LDLC, HDLC), using a prospective cohort of 26 904 individuals in which there were 6607 incident cancers...
November 20, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/29165650/evaluation-of-1-25-dihydroxyvitamin-d3-pathway-in-patients-with-chronic-urticaria
#8
Rasoul Nasiri-Kalmarzi, Mohammad Abdi, Javad Hosseini, Erfan Babaei, Aram Mokarizadeh, Zakaria Vahabzadeh
BACKGROUND: Previous studies showed the role of vitamin D (Vit D) on the progression of chronic urticaria. To the best of our knowledge, there are no other results regarding the contribution of single nucleotide polymorphisms (SNPs) in the vitamin D receptor (VDR) and vitamin D binding protein (VDBP) genes in Chronic Urticaria (CU). AIM: In the present study, we investigated the Vit pathway and the association between VDR and VDBP gene polymorphisms and CU risk in Iranian population...
November 20, 2017: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/29165633/genetic-variation-at-ifnl4-influences-extrahepatic-interferon-stimulated-gene-expression-in-chronic-hcv-patients
#9
Brad R Rosenberg, Catherine A Freije, Naoko Imanaka, Spencer T Chen, Jennifer L Eitson, Rachel Caron, Skyler A Uhl, Marija Zeremski, Andrew Talal, Ira M Jacobson, Charles M Rice, John W Schoggins
Polymorphisms at IFNL4 strongly influence spontaneous resolution and interferon therapeutic response in hepatitis C virus (HCV) infection. In chronic HCV, unfavorable alleles are associated with elevated interferon stimulated gene (ISG) expression in the liver, but extrahepatic effects are less well characterized. We used RNA-Seq to examine whether IFNL4 genetic variation (rs368234815) modulates ISG expression in peripheral blood mononuclear cells (PBMC) during chronic HCV. ISG expression was elevated in unstimulated PBMC homozygous for the unfavorable ΔG IFNL4 variant; expression following IFNα stimulation was comparable across genotypes...
November 20, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29165618/human-specific-mutations-and-positively-selected-sites-in-marco-confer-functional-changes
#10
Kyle E Novakowski, Nicholas V L Yap, Charles Yin, Kaori Sakamoto, Bryan Heit, G Brian Golding, Dawn M E Bowdish
Macrophage Receptor with COllagenous structure (MARCO) is a class A scavenger receptor that binds, phagocytoses, and modifies inflammatory responses to bacterial pathogens. Multiple candidate gene approach studies have shown that polymorphisms in MARCO are associated with susceptibility or resistance to Mycobacterium tuberculosis infection, but how these variants alter function is not known. To complement candidate gene approach studies, we previously used phylogenetic analyses to identify a residue, glutamine 452 (Q452), within the ligand-binding Scavenger Receptor Cysteine Rich (SRCR) domain as undergoing positive selection in humans...
November 20, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/29165562/the-diversity-of-recent-and-ancient-human-dream-a-new-microarray-for-genetic-anthropology-and-genealogy-forensics-and-personalized-medicine
#11
Eran Elhaik, Leeban Yusuf, Ainan I J Anderson, Mehdi Pirooznia, Dimitrios Arnellos, Gregory Vilshansky, Gunes Ercal, Yontao Lu, Teresa Webster, Michael L Baird, Umberto Esposito
The human population displays wide variety in demographic history, ancestry, content of DNA derived from hominins or ancient populations, adaptation, traits, copy number variation (CNVs), drug response, and more. These polymorphisms are of broad interest to population geneticists, forensics investigators, and medical professionals. Historically, much of that knowledge was gained from population survey projects. While many commercial arrays exist for genome-wide single-nucleotide polymorphism (SNP) genotyping, their design specifications are limited and they do not allow a full exploration of biodiversity...
November 20, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29165164/association-between-nat2-cyp1a1-and-cyp1a2-genotypes-heterocyclic-aromatic-amines-and-prostate-cancer-risk-a-case-control-study-in-japan
#12
Masahide Koda, Motoki Iwasaki, Yuko Yamano, Xi Lu, Takahiko Katoh
BACKGROUND: Heterocyclic aromatic amines (HAAs) may confer prostate cancer risk; however, the evidence is inconclusive and the activity of HAA-metabolizing enzymes is modulated by gene variants. The purpose of our study was to determine whether there was evidence of an association between HAA intake, polymorphisms in NAT2, CYP1A1, and CYP1A2 and prostate cancer risk in Japanese men. METHODS: Secondary data analysis of an observational case control study was performed...
October 24, 2017: Environmental Health and Preventive Medicine
https://www.readbyqxmd.com/read/29165153/impact-of-single-nucleotide-polymorphism-on-short-stature-and-reduced-tongue-pressure-among-community-dwelling-elderly-japanese-participants-a-cross-sectional-study
#13
Yuji Shimizu, Shimpei Sato, Yuko Noguchi, Jun Koyamatsu, Hirotomo Yamanashi, Miho Higashi, Mako Nagayoshi, Koichiro Kadota, Shin-Ya Kawashiri, Yasuhiro Nagata, Noboru Takamura, Takahiro Maeda
BACKGROUND: Asian-specific single nucleotide polymorphism (SNPs) (rs3782886) is reported to be associated with myocardial infarction; sarcopenia is reported to be associated with coronary subclinical atherosclerosis. On the other hand, short stature has been revealed as an independent risk factor for cardiovascular disease. However, no studies have reported on the association between sarcopenia and short stature nor on the impact of rs3782886 on this association. METHODS: Since reduced maximum voluntary tongue pressure against the palate (MTP) reflects one aspect of sarcopenia, we conducted a cross-sectional study of 537 community-dwelling elderly Japanese participants aged 60-89 years who had participated in a general health checkup in 2015...
July 27, 2017: Environmental Health and Preventive Medicine
https://www.readbyqxmd.com/read/29165144/isolation-and-identification-of-acanthamoeba-strains-from-soil-and-tap-water-in-yanji-china
#14
Yinghua Xuan, Yanqin Shen, Yuxi Ge, Gen Yan, Shanzi Zheng
BACKGROUND: Members of the genus Acanthamoeba are widely distributed throughout the world, and some of them are considered pathogenic, as they are capable of causing corneal and central nervous system diseases. In this study, we isolated Acanthamoeba strains from soil and tap water in Yanji, China. METHODS: We identified four strains of Acanthamoeba (CJY/S1, CJY/S2, CJY/S3, and CJY/W1) using mitochondrial DNA restriction fragment length polymorphism (mtDNA RFLP) analysis...
June 30, 2017: Environmental Health and Preventive Medicine
https://www.readbyqxmd.com/read/29165112/influence-of-a-50bp-ins-del-polymorphism-at-promoter-of-the-superoxide-dismutase-1-on-gene-expression-and-risk-of-heroin-dependency
#15
Khyber Saify, Mostafa Saadat
OBJECTIVE: Superoxide dismutase-1 (SOD1, OMIM: 147450) is one of the major antioxidant enzymes, which plays a vital role in clearance of reactive oxygen species. A genetic polymorphism of 50 bp insertion/deletion (Ins/Del) in the promoter region of the SOD1 was reported. The aims of the present study are to evaluate the influence of this polymorphism on the SOD1 mRNA levels in human peripheral blood cells and its association with risk of heroin dependency. METHODS: The present study consisted of 47 healthy students of Shiraz University (south-west Iran) for investigating the association between the Ins/Del polymorphism on expression level of SOD1, also a total of 442 heroin dependent and 799 healthy controls were included in a case-control study investigating the association between the study polymorphism and risk of dependency to heroin...
March 15, 2017: Environmental Health and Preventive Medicine
https://www.readbyqxmd.com/read/29165086/association-between-ltf-polymorphism-and-risk-of-hiv-1-transmission-among-zambian-seropositive-mothers
#16
Luisa Zupin, Vania Polesello, Ludovica Segat, Anselmo Jiro Kamada, Louise Kuhn, Sergio Crovella
BACKGROUND: Lactoferrin is a member of the innate immune system acting in the first line of defence against pathogens, and it is known for its antibacterial, antifungal and antiviral activity, including HIV-1. Two polymorphisms, T29A and R47K, in the exon 1 region of the LTF gene (encoding for the lactoferrin protein) were previously described as able to influence the lactoferrin antimicrobial function. OBJECTIVES: LTF T29A and R47K genetic variants were analysed in a Zambian population to unravel if these polymorphisms could play a role in HIV-1 mother-to-child HIV-1 transmission...
November 19, 2017: Current HIV Research
https://www.readbyqxmd.com/read/29164999/collagen-type-i-a2-gene-polymorphisms-and-susceptibility-to-intracranial-aneurysms-a-meta-analysis-of-genetic-association-studies
#17
Alexandros G Brotis, Anastasia Tasiou, Theofanis Giannis, Athanasios Paschalis, Kostas N Fountas
BACKGROUND: The development, evolution and rupture of intracranial aneurysms is in part related to genetic factors. The role Collagen type I a2 genetic polymorphisms has not been clarified yet. MATERIAL AND METHODS: A meta-analysis was realized by means of a genotype model-fitting processes (allele contrast, recessive, dominant, additive, and co-dominant), and a model-free approach using the generalized odds ratio (ORG). The latter was assessed in association to the degree of dominance (h-index)...
November 22, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29164813/chemical-polymorphism-of-essential-oils-of-artemisia-vulgaris-growing-wild-in-lithuania
#18
Asta Judzentiene, Jurga Budiene
Compositional variability of mugwort (Artemisia vulgaris L.) essential oils has been investigated in the study. Plant material (over ground parts at full flowering stage) was collected from forty-four wild populations in Lithuania. The oils from aerial parts were obtained by hydrodistillation and analyzed by GC(FID) and GC/MS. In total, up to 111 components were determined in the oils. As the major constituents were found: sabinene, 1,8-cineole, artemisia ketone, both thujone isomers, camphor, cis-chrysanthenyl acetate, davanone and davanone B...
November 21, 2017: Chemistry & Biodiversity
https://www.readbyqxmd.com/read/29164751/style-polymorphism-in-linum-linaceae-a-case-of-mediterranean-parallel-evolution
#19
J Ruiz-Martín, R Santos-Gally, M Escudero, J J Midgley, R Pérez-Barrales, J Arroyo
Heterostyly is a sex polymorphism which has challenged evolutionary biologists ever since Darwin. One of the lineages where heterostyly, and related stylar conditions, appears more frequently is the family Linaceae and its most diverse and widespread genus, Linum. Thus, this group is particularly suitable for testing competing hypotheses about ancestral and transitional stages on the evolutionary building up of heterostyly. We generated a well-resolved phylogeny of Linum based on extensive sampling and plastid and nuclear DNA sequences, and used it to trace the evolution of character states of style polymorphism and its association with traits related to pollination and breeding systems, obtained from our samples and the literature...
November 22, 2017: Plant Biology
https://www.readbyqxmd.com/read/29164635/influence-of-genetic-variants-of-idh1-idh2-tet2-and-dnmt3a-on-cytarabine-cytotoxicity-in-different-populations
#20
Y Wang, J K Lamba
WHAT IS KNOWN AND OBJECTIVE: Cytarabine (ara-C) is the mainstay of treatment for acute myeloid leukaemia. Resistance and toxicity are common reasons for its treatment failure. Genetic variants of susceptibility genes may be involved in resistance and toxicity to ara-C. This study is aimed to explore the association between influence of genetic variants of IDH1, IDH2, TET2 and DNMT3A on cytarabine cytotoxicity in European and/or African populations. METHODS: HapMap cell lines derived from European descent (CEU) and African descent (YRI) were exposed to ara-C at different concentrations (1, 5, 40 and 80 μmol/L)...
November 21, 2017: Journal of Clinical Pharmacy and Therapeutics
keyword
keyword
73046
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"