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Allelic exclusion

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https://www.readbyqxmd.com/read/28543872/pai-1-gain-of-function-genotype-factors-increasing-pai-1-levels-and-airway-obstruction-the-gala-ii-cohort
#1
Michael G Sherenian, Seong H Cho, Albert Levin, Jin-Young Min, Sam S Oh, Donglei Hu, Joshua Galanter, Saunak Sen, Scott Huntsman, Celeste Eng, Jose R Rodriguez-Santana, Denise Serebrisky, Pedro C Avila, Ravi Kalhan, Lewis J Smith, Luisa N Borrell, Max A Seibold, L Keoki Williams, Esteban G Burchard, Rajesh Kumar
BACKGROUND: PAI-1 gain of function variants promote airway fibrosis, and are associated with asthma and with worse lung function in subjects with asthma. OBJECTIVE: We sought to determine if the association of a gain-of-function polymorphism in Plasminogen Activator Inhibitor -1 (PAI-1) with airway obstruction is modified by asthma status, and whether any genotype effect persists after accounting for common exposures that increase PAI-1 level. METHODS: We studied 2070 Latino children (8-21y) with genotypic and pulmonary function data from the GALA II cohort...
May 24, 2017: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28537274/characterization-of-pathogenic-sorl1-genetic-variants-for-association-with-alzheimer-s-disease-a-clinical-interpretation-strategy
#2
Henne Holstege, Sven J van der Lee, Marc Hulsman, Tsz Hang Wong, Jeroen Gj van Rooij, Marjan Weiss, Eva Louwersheimer, Frank J Wolters, Najaf Amin, André G Uitterlinden, Albert Hofman, M Arfan Ikram, John C van Swieten, Hanne Meijers-Heijboer, Wiesje M van der Flier, Marcel Jt Reinders, Cornelia M van Duijn, Philip Scheltens
Accumulating evidence suggests that genetic variants in the SORL1 gene are associated with Alzheimer disease (AD), but a strategy to identify which variants are pathogenic is lacking. In a discovery sample of 115 SORL1 variants detected in 1908 Dutch AD cases and controls, we identified the variant characteristics associated with SORL1 variant pathogenicity. Findings were replicated in an independent sample of 103 SORL1 variants detected in 3193 AD cases and controls. In a combined sample of the discovery and replication samples, comprising 181 unique SORL1 variants, we developed a strategy to classify SORL1 variants into five subtypes ranging from pathogenic to benign...
May 24, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28523558/epigenome-editing-in-the-brain
#3
Pavel Bashtrykov, Albert Jeltsch
Epigenome editing aims for an introduction or removal of chromatin marks at a defined genomic region using artificial EpiEffectors resulting in a modulation of the activity of the targeted functional DNA elements. Rationally designed EpiEffectors consist of a targeting DNA-binding module (such as a zinc finger protein, TAL effector, or CRISPR/Cas complex) and usually, but not exclusively, a catalytic domain of a chromatin-modifying enzyme. Epigenome editing opens a completely new strategy for basic research of the central nervous system and causal treatment of psychiatric and neurological diseases, because rewriting of epigenetic information can lead to the direct and durable control of the expression of disease-associated genes...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28520715/geographical-distribution-of-complement-receptor-type-1-variants-and-their-associated-disease-risk
#4
Thaisa Lucas Sandri, Selorme Adukpo, Dao Phuong Giang, Christian N Nguetse, Fabiana Antunes Andrade, Hoang van Tong, Nguyen Linh Toan, Le Huu Song, Preetham Elumalai, Kumarasamy Thangaraj, Vijaya Lakshmi Valluri, Francine Ntoumi, Christian G Meyer, Iara Jose de Messias Reason, Peter G Kremsner, Thirumalaisamy P Velavan
BACKGROUND: Pathogens exert selective pressure which may lead to substantial changes in host immune responses. The human complement receptor type 1 (CR1) is an innate immune recognition glycoprotein that regulates the activation of the complement pathway and removes opsonized immune complexes. CR1 genetic variants in exon 29 have been associated with expression levels, C1q or C3b binding and increased susceptibility to several infectious diseases. Five distinct CR1 nucleotide substitutions determine the Knops blood group phenotypes, namely Kna/b, McCa/b, Sl1/Sl2, Sl4/Sl5 and KCAM+/-...
2017: PloS One
https://www.readbyqxmd.com/read/28508289/somatic-mosaicism-with-reversion-to-normality-of-a-mutated-transthyretin-allele-related-to-a-familial-amyloidotic-polyneuropathy
#5
Concetta Federico, Ketty Dugo, Francesca Bruno, Anna Maria Longo, Agata Grillo, Salvatore Saccone
Familial amyloidotic polyneuropathy (FAP) is a progressive neuropathy, with onset in adulthood and high mortality. It is related to an altered transthyretin (TTR) plasma protein, mainly produced by the liver and responsible for amyloid deposit in the peripheral nervous system. SNPs in the TTR gene were associated with FAP, and the G>C substitution (NM_000371.3:c.325G>C) in the 109th codon (GAG vs CAG; NP_362.1:p.E109Q) was previously described in Sicily (Italy). Here, we report on a Sicilian family with several patients affected by FAP related to the E109Q mutation, which displayed a somatic mosaicism with the reversion to normality of the c...
May 15, 2017: Human Genetics
https://www.readbyqxmd.com/read/28500993/nonsynonymous-changes-of-equine-lentivirus-receptor-1-elr1-gene-in-amino-acids-involved-in-the-interaction-with-equine-infectious-anemia-virus-eiav
#6
C M Corbi-Botto, S A Sadaba, M E Zappa, P Peral-García, S Díaz
Equine lentivirus receptor-1 (ELR1) has been characterized as the specific functional receptor that mediates equine infectious anemia virus (EIAV) entrance to horse macrophages. This receptor is tumor necrosis factor receptor superfamily member 14 (TNFRSF14). The aim of this study was to investigate the occurrence of allelic variants in the coding sequence of equine TNFRSF14 gene by screening for single-nucleotide polymorphisms (SNPs) in different equine populations. Forty seven horse samples were randomly selected from a reservoir of EIAV-seropositive and seronegative samples collected from different outbreaks and regions of Argentina...
May 2, 2017: Research in Veterinary Science
https://www.readbyqxmd.com/read/28494133/interaction-between-adh1b-3-and-alcohol-facilitating-social-environments-in-alcohol-behaviors-among-college-students-of-african-descent
#7
Jessica M Desalu, Michelle J Zaso, Jueun Kim, John M Belote, Aesoon Park
BACKGROUND AND OBJECTIVES: Although alcohol-facilitating social environmental factors, such as alcohol offers and high perceived peer drinking norms, have been extensively studied as determinants of college drinking, their role among college students of African descent remains understudied. Furthermore, gene-environment interaction research suggests that the effects of alcohol-facilitating environments may differ as a function of genetic factors. Specifically, the alcohol dehydrogenase gene's ADH1B*3 allele, found almost exclusively in persons of African descent, may modulate the association of risky social environments with alcohol behaviors...
June 2017: American Journal on Addictions
https://www.readbyqxmd.com/read/28487499/updated-meta-analysis-of-the-role-of-apoe-%C3%AE%C2%B52-%C3%AE%C2%B53-%C3%AE%C2%B54-alleles-in-frontotemporal-lobar-degeneration
#8
Wen-Hua Su, Zhi-Hong Shi, Shu-Ling Liu, Xiao-Dan Wang, Shuai Liu, Yong Ji
We performed an updated meta-analysis to assess the role of the ε2/ε3/ε4 alleles of Apolipoprotein E gene (APOE) in frontotemporal lobar degeneration (FTLD). The relevant articles were retrieved from PubMed, CENTRAL, EMBASE and Web of Science databases, and 51 eligible case-control studies with 5123 cases and 20566 controls were selected after screening according to inclusion and exclusion criteria. Our analysis demonstrated that APOE ε4 was associated with increased FTLD risk in all genetic models (ε4 vs...
April 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/28470721/hox11-function-is-required-for-region-specific-fracture-repair
#9
Danielle R Rux, Jane Y Song, Kyriel M Pineault, Gurjit S Mandair, Ilea T Swinehart, Aleesa J Schlientz, Kayla N Garthus, Steve A Goldstein, Ken M Kozloff, Deneen M Wellik
The processes that govern fracture repair rely on many mechanisms that recapitulate embryonic skeletal development. Hox genes are transcription factors that perform critical patterning functions in regional domains along the axial and limb skeleton during development. Much less is known about roles for these genes in the adult skeleton. We recently reported that Hox11 genes, which function in zeugopod development (radius/ulna and tibia/fibula), are also expressed in the adult zeugopod skeleton exclusively in PDGFRα + /CD51 + /LepR+ mesenchymal stem/stromal cells (MSCs)...
May 4, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28470669/long-distance-interaction-of-the-integrated-hpv-fragment-with-myc-gene-and-8q24-22-region-upregulating-the-allele-specific-myc-expression-in-hela-cells
#10
Congle Shen, Yongzhen Liu, Shu Shi, Ruiyang Zhang, Ting Zhang, Qiang Xu, Pengfei Zhu, Xiangmei Chen, Fengmin Lu
Human papillomavirus (HPV) infection is the most important risk factor for cervical cancer development. In HeLa cell line, the HPV viral genome is integrated at 8q24 in one allele of chromosome 8. It has been reported that the HPV fragment integrated in HeLa genome can cis-activate the expression of proto-oncogene MYC, which is located at 500 kb downstream of the integrated site. However, the underlying molecular mechanism of this regulation is unknown. A recent study reported that MYC was highly expressed exclusively from the HPV-integrated haplotype, and a long-range chromatin interaction between the integrated HPV fragment and MYC gene has been hypothesized...
May 3, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28453176/discovery-and-characterization-of-new-microsatellite-loci-in-dipteryx-alata-vogel-fabaceae-using-next-generation-sequencing-data
#11
R A Guimarães, M P C Telles, A M Antunes, K M Corrêa, C V G Ribeiro, A S G Coelho, T N Soares
The use of next-generation sequencing (NGS) technologies provides a great volume of genome sequence data even for non-model species. The development of microsatellite markers using these data is a relatively quick and easy process. Dipteryx alata Vogel (Fabaceae) is an arboreal species from the Cerrado biome and is considered an important plant genetic resource. Here, we report the development of microsatellite markers for D. alata using NGS data. DNA samples from four individuals were sequenced using the Illumina MiSeq platform and high-quality reads were assembled into contigs of the D...
April 28, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28450788/effects-of-cyp2d6-and-cyp3a5-polymorphisms-on-tamoxifen-and-its-metabolites-in-thai-breast-cancer-patients
#12
Wanaporn Charoenchokthavee, Nutthada Areepium, Duangchit Panomvana, Virote Sriuranpong
PURPOSE: This study aimed to determine the effects of CYP2D6 and CYP3A5 polymorphisms on the levels of tamoxifen (TAM) and its metabolites in the plasma of breast cancer patients. The protocol was designed to test the associations between CYP2D6, CYP3A5 genotypes and phenotypes (extensive metabolizer [EM], intermediate metabolizer [IM] and poor metabolizer [PM]) and TAM, N-desmethyl tamoxifen (NDMT), endoxifen (END) and 4-hydroxytamoxifen (4OHT) concentrations. PATIENTS AND METHODS: One hundred and thirty-four Thai breast cancer patients from the Thai Tamoxifen Project undergoing TAM treatment who met the inclusion/exclusion criteria were recruited...
2017: Breast Cancer: Targets and Therapy
https://www.readbyqxmd.com/read/28449233/an-evaluation-of-the-international-society-for-animal-genetics-recommended-parentage-and-identification-panel-for-the-domestic-pigeon-columba-livia-domestica
#13
M de Groot, W A van Haeringen
In this study, the International Society for Animal Genetics (ISAG) recommended panel for the identification of the domestic pigeon (Columba livia domestica) is characterized based on commonly used statistical parameters. The marker panel is based on 16 short tandem repeat (STR) loci (PIGN15, PIGN10, PIGN57, PIGN26, CliμD16, CliμD19, PIGN12, CliμD17, CliμT17, PIGN04, CliμD01, CliμD11, CliμD35, CliμT02, CliμT13, CliμT43). The alleles of the 16 loci consist of a mixture of tri-, tetra-, penta- and hexameric repeat patterns...
April 27, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28435090/trinucleotide-repeat-expanded-and-normal-dmpk-transcripts-contain-unusually-long-poly-a-tails-despite-differential-nuclear-residence
#14
Anke E E G Gudde, Ingeborg D G van Kessel, Laurène M André, Bé Wieringa, Derick G Wansink
In yeast and higher eukaryotes nuclear retention of transcripts may serve in control over RNA decay, nucleocytoplasmic transport and premature cytoplasmic appearance of mRNAs. Hyperadenylation of RNA is known to be associated with nuclear retention, but the cause-consequence relationship between hyperadenylation and regulation of RNA nuclear export is still unclear. We compared polyadenylation status between normal and expanded DMPK transcripts in muscle cells and tissues derived from unaffected individuals and patients with myotonic dystrophy type 1 (DM1)...
June 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28434779/a-comparative-study-of-cutibacterium-propionibacterium-acnes-clones-from-acne-patients-and-healthy-controls
#15
H B Lomholt, C F P Scholz, H Brüggemann, H Tettelin, M Kilian
BACKGROUND: Cutibacterium (Propionibacterium) acnes is assumed to play an important role in the pathogenesis of acne. OBJECTIVES: To examine if clones with distinct virulence properties are associated with acne. METHODS: Multiple C. acnes isolates from follicles and surface skin of patients with moderate to severe acne and healthy controls were characterized by multilocus sequence typing. To determine if CC18 isolates from acne patients differ from those of controls in the possession of virulence genes or lack of genes conducive to a harmonious coexistence the full genomes of dominating CC18 follicular clones from six patients and five controls were sequenced...
April 19, 2017: Anaerobe
https://www.readbyqxmd.com/read/28427253/meta-analysis-of-the-correlation-between-the-rs17401966-polymorphism-in-kinesin-family-member-1b-and-susceptibility-to-hepatitis-b-virus-related-hepatocellular-carcinoma
#16
Mingkuan Su, Jianfeng Guo, Jiancheng Huang
Background/Aims: The association between the kinesin family member 1B (KIF1B) gene polymorphism and the risk of hepatitis B virus-related hepatocellular carcinoma (HCC) has been investigated in many peer-reviewed studies. However, scholars have failed to replicate these results in validation tests. The purpose of the present study was to explore whether the KIF1B rs17401966 polymorphism was associated with susceptibility to HCC. Methods: The results of case-controlled studies on the correlation between the KIF1B rs17401966 polymorphism and HCC susceptibility were collected using Google Scholar and the EMBASE, PubMed and CNKI databases...
April 21, 2017: Clinical and Molecular Hepatology
https://www.readbyqxmd.com/read/28416677/structural-toggle-in-the-rnaseh-domain-of-prp8-helps-balance-splicing-fidelity-and-catalytic-efficiency
#17
Megan Mayerle, Madhura Raghavan, Sarah Ledoux, Argenta Price, Nicholas Stepankiw, Haralambos Hadjivassiliou, Erica A Moehle, Senén D Mendoza, Jeffrey A Pleiss, Christine Guthrie, John Abelson
Pre-mRNA splicing is an essential step of eukaryotic gene expression that requires both high efficiency and high fidelity. Prp8 has long been considered the "master regulator" of the spliceosome, the molecular machine that executes pre-mRNA splicing. Cross-linking and structural studies place the RNaseH domain (RH) of Prp8 near the spliceosome's catalytic core and demonstrate that prp8 alleles that map to a 17-aa extension in RH stabilize it in one of two mutually exclusive structures, the biological relevance of which are unknown...
May 2, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28414633/genome-wide-analysis-provides-evidence-on-the-genetic-relatedness-of-the-emergent-xylella-fastidiosa-genotype-in-italy-to-isolates-from-central-america
#18
Annalisa Giampetruzzi, Maria Saponari, Giuliana Loconsole, Donato Boscia, Vito Nicola Savino, Rodrigo Almeida, Stefania Zicca, Blanca Landa, Carlos Chacon Diaz, Pasquale Saldarelli
Xylella fastidiosa is a plant pathogenic bacterium recently introduced in Europe that is causing decline in olive trees in the South of Italy. Genetic studies have consistently shown that the bacterial genotype recovered from infected olive trees belongs to the sequence type ST53 within subspecies pauca. This genotype, ST53, has also been reported to occur in Costa Rica. The ancestry of ST53 was recently clarified, showing it contains alleles which are monophyletic with those of subsp. pauca in South America...
April 17, 2017: Phytopathology
https://www.readbyqxmd.com/read/28412872/chinese-xibe-population-genetic-composition-according-to-linkage-groups-of-x-chromosomal-strs-population-genetic-variability-and-interpopulation-comparisons
#19
Hao-Tian Meng, Chun-Mei Shen, Yu-Dang Zhang, Qian Dong, Yu-Xin Guo, Guang Yang, Jiang-Wei Yan, Yao-Shun Liu, Ting Mei, Jian-Feng Shi, Bo-Feng Zhu
BACKGROUND: The Xibe population is one of China's officially recognised populations and is now distributed separately from west to east in the northern part of China. X-chromosomal short tandem repeats have a special inheritance pattern, and could be used as complements in forensic application, especially for complex or deficiency cases. SUBJECTS AND METHODS: This study obtained the allelic and haplotypic frequencies of 19 X-STR loci in the Xibe population from Xinjiang Uygur Autonomous Region, China, and studied the genetic differentiations between the Xibe and other populations...
May 5, 2017: Annals of Human Biology
https://www.readbyqxmd.com/read/28411125/hypersociability-in-the-angelman-syndrome-mouse-model
#20
David C Stoppel, Matthew P Anderson
Deletions and reciprocal triplications of the human chromosomal 15q11-13 region cause two distinct neurodevelopmental disorders. Maternally-derived deletions or inactivating mutations of UBE3A, a 15q11-13 gene expressed exclusively from the maternal allele in neurons, cause Angelman syndrome, characterized by intellectual disability, motor deficits, seizures, and a characteristic increased social smiling, laughing, and eye contact. Conversely, maternally-derived triplications of 15q11-13 cause a behavioral disorder on the autism spectrum with clinical features that include decreased sociability that we recently reconstituted in mice with Ube3a alone...
April 11, 2017: Experimental Neurology
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