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https://www.readbyqxmd.com/read/28103633/irf4-rs12203592-functional-variant-and-melanoma-survival
#1
Miriam Potrony, Aida Rebollo-Morell, Pol Giménez-Xavier, Lisa Zimmer, Joan Anton Puig-Butille, Gemma Tell-Marti, Antje Sucker, Celia Badenas, Cristina Carrera, Josep Malvehy, Dirk Schadendorf, Susana Puig
Inherited genetic factors may modulate clinical outcome in melanoma. Some low to medium risk genes in melanoma susceptibility play a role in melanoma outcome. Our aim was to assess the role of the functional IRF4 SNP rs12203592 in melanoma prognosis in two independent sets (Barcelona N=493 and Essen N=438). Genotype association analyses showed that the IRF4 rs12203592 T allele increased the risk of dying from melanoma in both sets (Barcelona: Odds Ratio [OR]=6.53, 95%CI 1.38 to 30.87, Adj P=0.032; Essen: OR=1...
January 19, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28103374/arg399gln-polymorphism-of-the-xrcc1-gene-is-associated-with-coronary-artery-disease-in-a-turkish-population
#2
N Özbilüm, S Arslan, M Yanartaş, Z Yılmaz, Ö Berkan
Objective: Coroner artery disease, the leading cause of morbidity and mortality worldwide, is an inflammatory disease. XRCC1 gene is playing the role of scaffolding protein for the base excision repair (BER) and single strand break (SSB) repair. Methods: The study population consisted of 402 participants living in the same region, classified into case group (n=201) and control group (n=201). Phenol-chloroform method was used to extract DNA from blood samples of the study participants...
March 17, 2016: West Indian Medical Journal
https://www.readbyqxmd.com/read/28103314/expression-of-a-mutant-sema3a-protein-with-diminished-signalling-capacity-does-not-alter-als-related-motor-decline-or-confer-changes-in-nmj-plasticity-after-botoxa-induced-paralysis-of-male-gastrocnemic-muscle
#3
Elizabeth B Moloney, Barbara Hobo, Fred De Winter, Joost Verhaagen
Terminal Schwann cells (TSCs) are specialized cells that envelop the motor nerve terminal, and play a role in the maintenance and regeneration of neuromuscular junctions (NMJs). The chemorepulsive protein semaphorin 3A (SEMA3A) is selectively up-regulated in TSCs on fast-fatigable muscle fibers following experimental denervation of the muscle (BotoxA-induced paralysis or crush injury to the sciatic nerve) or in the motor neuron disease amyotrophic lateral sclerosis (ALS). Re-expression of SEMA3A in this subset of TSCs is thought to play a role in the selective plasticity of nerve terminals as observed in ALS and following BotoxA-induced paralysis...
2017: PloS One
https://www.readbyqxmd.com/read/28103310/epidemiological-and-molecular-characterization-of-a-mexican-population-isolate-with-high-prevalence-of-limb-girdle-muscular-dystrophy-type-2a-due-to-a-novel-calpain-3-mutation
#4
Carlos A Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, Juan C Zenteno
Limb-Girdle Muscular Dystrophy type 2 (LGMD2) is a group of autosomally recessive inherited disorders defined by weakness and wasting of the shoulder and pelvic girdle muscles. In the past, several population isolates with high incidence of LGMD2 arising from founder mutation effects have been identified. The aim of this work is to describe the results of clinical, epidemiologic, and molecular studies performed in a Mexican village segregating numerous cases of LGMD2. A population census was conducted in the village to identify all LGMD affected patients...
2017: PloS One
https://www.readbyqxmd.com/read/28103253/polymorphisms-in-htr2a-and-drd4-predispose-to-smoking-and-smoking-quantity
#5
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
#6
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
https://www.readbyqxmd.com/read/28103232/a-model-of-compound-heterozygous-loss-of-function-alleles-is-broadly-consistent-with-observations-from-complex-disease-gwas-datasets
#7
Jaleal S Sanjak, Anthony D Long, Kevin R Thornton
The genetic component of complex disease risk in humans remains largely unexplained. A corollary is that the allelic spectrum of genetic variants contributing to complex disease risk is unknown. Theoretical models that relate population genetic processes to the maintenance of genetic variation for quantitative traits may suggest profitable avenues for future experimental design. Here we use forward simulation to model a genomic region evolving under a balance between recurrent deleterious mutation and Gaussian stabilizing selection...
January 19, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28103229/protein-phosphatase-1-down-regulates-zyg-1-levels-to-limit-centriole-duplication
#8
Nina Peel, Jyoti Iyer, Anar Naik, Michael P Dougherty, Markus Decker, Kevin F O'Connell
In humans perturbations of centriole number are associated with tumorigenesis and microcephaly, therefore appropriate regulation of centriole duplication is critical. The C. elegans homolog of Plk4, ZYG-1, is required for centriole duplication, but our understanding of how ZYG-1 levels are regulated remains incomplete. We have identified the two PP1 orthologs, GSP-1 and GSP-2, and their regulators I-2SZY-2 and SDS-22 as key regulators of ZYG-1 protein levels. We find that down-regulation of PP1 activity either directly, or by mutation of szy-2 or sds-22 can rescue the loss of centriole duplication associated with a zyg-1 hypomorphic allele...
January 19, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28102888/genetic-polymorphisms-in-estrogen-metabolic-pathway-associated-with-risks-of-alzheimer-s-disease-evidence-from-a-southern-chinese-population
#9
Lu Hua Chen, Yan Hui Fan, Patrick Yu Ping Kao, Deborah Tip Yin Ho, Joyce Cheuk Tung Ha, Leung Wing Chu, You-Qiang Song
OBJECTIVES: To investigate whether genetic variations on the estrogen metabolic pathway would be associated with risk of Alzheimer's disease (AD). DESIGN: Cross-sectional study. SETTING: Individuals were recruited at the Memory Clinic, Queen Mary Hospital, Hong Kong. PARTICIPANTS: Chinese individuals with (n = 426) and without (n = 350) AD. MEASUREMENTS: All subjects underwent a standardized cognitive assessment and genotyping of four candidate genes on the estrogen metabolic pathway (estrogen receptor α gene (ESR1), estrogen receptor β gene (ESR2), cytochrome P450 19A1 gene (CYP19A1), cytochrome P450 11A1 gene (CYP11A1))...
January 19, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28102864/transthyretin-v122i-pv142i-cardiac-amyloidosis-an-age-dependent-autosomal-dominant-cardiomyopathy-too-common-to-be-overlooked-as-a-cause-of-significant-heart-disease-in-elderly-african-americans
#10
REVIEW
Joel N Buxbaum, Frederick L Ruberg
Since the identification of a valine-to-isoleucine substitution at position 122 (TTR V122I; pV142I) in the transthyretin (TTR)-derived fibrils extracted from the heart of a patient with late-onset cardiac amyloidosis, it has become clear that the amyloidogenic mutation and the disease occur almost exclusively in individuals of identifiable African descent. In the United States, the amyloidogenic allele frequency is 0.0173 and is carried by 3.5% of community-dwelling African Americans. Genotyping across Africa indicates that the origin of the allele is in the West African countries that were the major source of the slave trade to North America...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102463/marked-differences-of-haplotype-tagging-snp-distribution-linkage-and-haplotype-profile-of-apoa5-gene-in-roma-population-samples
#11
Katalin Sumegi, Balazs Duga, Bela I Melegh, Zsolt Banfai, Erzsebet Kovesdi, Anita Maasz, Bela Melegh
Roma people are underprivileged, neglected population worldwide, with severe healthcare problems. They have significantly increased prevalence of cardiovascular morbidity, presumably related to their poor social status, alcohol consumption and smoking habits. Assuming that genetic background also plays a role in their susceptibility for cardiovascular diseases, we hypothesized that APOA5 gene polymorphisms, an important role-player in lipid metabolism and in the development of metabolic syndrome and cardio/cerebrovascular events, may also be involved...
January 19, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28102303/panmixia-and-dispersal-from-the-mediterranean-basin-to-macaronesian-islands-of-a-macrolichen-species
#12
David Alors, Francesco Dal Grande, Paloma Cubas, Ana Crespo, Imke Schmitt, M Carmen Molina, Pradeep K Divakar
The Mediterranean region, comprising the Mediterranean Basin and the Macaronesian Islands, represents a center of diversification for many organisms. The genetic structure and connectivity of mainland and island microbial populations has been poorly explored, in particular in the case of symbiotic fungi. Here we investigated genetic diversity and spatial structure of the obligate outcrossing lichen-forming fungus Parmelina carporrhizans in the Mediterranean region. Using eight microsatellite and mating-type markers we showed that fungal populations are highly diverse but lack spatial structure...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28102195/positive-association-between-kcnj5-rs2604204-a-c-polymorphism-and-plasma-aldosterone-levels-but-also-plasma-renin-and-angiotensin-i-and-ii-levels-in-newly-diagnosed-hypertensive-chinese-a-case-control-study
#13
H Wang, C Weng, H Chen
Variants in G protein-coupled inward rectifier K(+) channels 4 (GIRK4 also known as KCNJ5) gene are associated with primary aldosteronism, which is the most common cause of secondary hypertension. The KCNJ5 rs2604204 variant was shown to be common (minor allele frequency=32.5%) in Chinese patients with essential hypertension (EH). The relationship between KCNJ5 variant and plasma aldosterone (ALD) levels in EH patients has not been reported. We collected 229 patients with newly diagnosed EH without any antihypertensive agents...
January 19, 2017: Journal of Human Hypertension
https://www.readbyqxmd.com/read/28102043/identification-of-a-novel-hla-b-40-allele-hla-b-40-332-in-a-korean-individual
#14
S-H Han, O-J Kwon, H-S Lim, S-Y Hwang, K-R Lee
HLA-B*40:332 differs from B*40:01:02 by 1 nucleotide difference at nucleotide position 439.
February 2017: HLA
https://www.readbyqxmd.com/read/28102042/identification-of-a-10-10-matched-donor-for-patients-with-an-uncommon-haplotype-is-unlikely
#15
J A Olson, Y Gibbens, K Tram, J Kempenich, J Novakovich, K Buck, J Dehn
BACKGROUND: Despite over 6 million subjects contributing to the National Marrow Donor Program human leukocyte antigen (HLA) haplotype frequency reference data (HFD), haplotypes cannot be predicted from the HLA assignments of some patients searching for an unrelated donor (URD) in the Be The Match Registry®. We aimed to determine the incidence of these patient searches and whether haplotypes lacking from the HFD can be found among the low-resolution typed URD pool. MATERIALS AND METHODS: New NMDP searches with uncommon patient haplotypes (UPH), defined as a lack of haplotype pairs in any single ethnic group in the HFD based upon HLA-A˜C˜B˜DRB1˜DQB1, were identified...
February 2017: HLA
https://www.readbyqxmd.com/read/28102041/a-new-hla-b-55-allele-b-55-83n-with-a-stop-codon-in-exon-4-generated-by-a-point-mutation-identified-in-a-chinese-individual
#16
X-Y Zhou, P Jiang, L-Q Zhang, J Cui, J-P Cai
The new allele HLA-B*55:83N differs from HLA-B*55:02:01:01 by a single nucleotide.
February 2017: HLA
https://www.readbyqxmd.com/read/28102040/identification-of-the-novel-hla-b-39-01-01-04-allele-in-a-chinese-individual-by-sequence-based-typing
#17
J Kwok, J C Y Ho, Y S Chan, A Soormally, S G E Marsh
The new HLA-B*39:01:01:04 allele differs from HLA-B*39:01:01 by a C → T substitution in intron 1.
February 2017: HLA
https://www.readbyqxmd.com/read/28102039/a-dispermic-chimerism-detected-in-a-taiwanese-potential-unrelated-hematopoietic-stem-cell-donor
#18
E K L Yang, S G E Marsh, P-Y Chen, C-P Chen, S-P Chen, P Y Lin
Chimerism is defined as the presence of 2 or more than 1 genetically distinct cell populations in an organism. Dispermic chimeras are derived from the fertilization of 1 or 2 matured nuclei by 2 sperms. We here report detection of a healthy and phenotypically normal female with normal ABO red blood cell typing in whom dispermic chimerism was suspected after 3 alleles were identified at multiple human leukocyte antigen (HLA) loci using molecular HLA analysis. Molecular HLA typing showed the donor to have 3 HLA-A, -B, -C, -DRB1, -DQB1 and -DPB1 alleles in blood, saliva and nail samples...
February 2017: HLA
https://www.readbyqxmd.com/read/28102036/combining-one-step-sanger-sequencing-with-phasing-probe-hybridization-for-hla-class-i-typing-yields-rapid-g-group-resolution-predicting-99-of-unique-full-length-protein-sequences
#19
Bin Tu, Carly Masaberg, Lihua Hou, Daniel Behm, Peter Brescia, Nuri Cha, Kanthi Kariyawasam, Jar How Lee, Thoa Nong, John Sells, Paul Tausch, Ruyan Yang, Jennifer Ng, Carolyn Katovich Hurley
BACKGROUND: Sanger-based DNA sequencing of exons 2+3 of HLA class I alleles from a heterozygote frequently results in two or more alternative genotypes. This study was undertaken to reduce the time and effort required to produce a single high resolution HLA genotype. MATERIALS AND METHODS: Samples were typed in parallel by Sanger sequencing and oligonucleotide probe hybridization. This workflow, together with optimization of analysis software, was tested and refined during the typing of over 42,000 volunteers for an unrelated hematopoietic progenitor cell donor registry...
February 2017: HLA
https://www.readbyqxmd.com/read/28102035/description-of-the-novel-kir2dl1-034-allele-identified-from-a-southern-chinese-han-individual
#20
R Chen, G-B Zhang, Z-H Deng
The novel KIR2DL1*034 allele differs from the closest allele KIR2DL1*00302 by a single missense mutation.
February 2017: HLA
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