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https://www.readbyqxmd.com/read/28700716/improved-high-sensitivity-screen-for-huntington-disease-using-a-one-step-triplet-primed-pcr-and-melting-curve-assay
#1
Mingjue Zhao, Felicia S H Cheah, Min Chen, Caroline G Lee, Hai-Yang Law, Samuel S Chong
Molecular diagnosis of Huntington disease (HD) is currently performed by fluorescent repeat-flanking or triplet-primed PCR (TP-PCR) with capillary electrophoresis (CE). However, CE requires multiple post-PCR steps and may result in high cost in high-throughput settings. We previously described a cost-effective single-step molecular screening strategy employing the use of melting curve analysis (MCA). However, because it relies on repeat-flanking PCR, its efficiency in detecting expansion mutations decreases with increasing size of the repeat, which could lead to false-negative results...
2017: PloS One
https://www.readbyqxmd.com/read/28696025/a-novel-vwf-variant-associated-with-type-2-von-willebrand-disease-in-german-wirehaired-pointers-and-german-shorthaired-pointers
#2
M Vos-Loohuis, B A van Oost, C Dangel, I Langbein-Detsch, P A Leegwater
Von Willebrand disease (VWD), caused by deficiency of the von Willebrand factor (VWF), is the most common bleeding disorder in humans and dogs. The complete cDNA encoding VWF of a German Wirehaired Pointer with type 2 VWD was sequenced, and we found four variants that alter the amino acid sequence. These variants were: c.1657T>G corresponding to p.Trp553Gly; c.1777G>A (p.Glu593Lys); c.4937A>G (p.Asn1646Ser) and c.5544G>A (p.Met1848Ile). A haplotype of the c.1657G, c.1777A and c.4937G alleles co-segregated with the VWF antigen level in a four-generation pedigree with the disease...
August 2017: Animal Genetics
https://www.readbyqxmd.com/read/28692254/dissecting-the-disulfide-linkage-of-n-terminal-domain-of-hmw-1dx5-and-its-contributions-to-dough-functionality
#3
JingJing Wang, Guang Liu, Yanbo Huang, Qiaohui Zeng, Yi Hou, Lin Li, Shiyi Ou, Min Zhang, Song-Qing Hu
N-terminal domain of HMW-GS 1Dx5 (1Dx5-N) contains three cysteine residues (Cys10, Cys25, Cys40), which are the basis of gluten network formation through disulfide bonds. Disulfide linkage in 1Dx5-N was dissected by site-directed mutagenesis and LC-MS/MS, and its contributions to structural and conformational stability of 1Dx5-N and dough functionality were investigated by circular dichroism, intrinsic fluorescence, surface hydrophobicity determination, size exclusion chromatography, non-reducing/reducing SDS-PAGE, atomic force microscopy and farinographic analysis...
July 10, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28686676/exotic-qtl-improve-grain-quality-in-the-tri-parental-wheat-population-sw84
#4
Ioanna-Pavlina Nedelkou, Andreas Maurer, Anne Schubert, Jens Léon, Klaus Pillen
DEVELOPING THE TRI-PARENTAL EXOTIC WHEAT POPULATION SW84: Genetic diversity of cultivated wheat was markedly reduced, first, during domestication and, second, since the onset of modern elite breeding. There is an increasing demand for utilizing genetic resources to increase genetic diversity and, simultaneously, to improve agronomic performance of cultivated wheat. To locate favorable effects of exotic wheat alleles, we developed the tri-parental wheat population SW84. The population was derived from crossing the hexaploid spring wheat cultivars Triso and Devon with one synthetic exotic donor accession, Syn084L, followed by two rounds of backcrossing and three rounds of selfing...
2017: PloS One
https://www.readbyqxmd.com/read/28685717/variants-in-the-promoter-region-of-hla-dqa1-were-associated-with-idiopathic-membranous-nephropathy-in-a-chinese-han-population
#5
Xiao-Song Qin, Jian-Hua Liu, Guan-Ting Lyu, Meng-Le Peng, Fu-Ning Yang, Dong-Chun Qin, Yong-Zhe Li, Yong Liu
BACKGROUND: Idiopathic membranous nephropathy (IMN) is an autoimmune disease and the leading cause of adult nephritic syndrome. HLA-DQA1 had been identified to be associated with IMN in Europeans and the result was replicated in Chinese Han population. In this study, six single nucleotide polymorphisms (SNPs) in the promoter of HLA-DQA1 and other two SNPs with IgA nephropathy were included for the association analysis. METHODS: The SNPs were genotyped in 509 patients and 601 controls by the MassArray iPLEX...
July 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28676969/genetic-study-of-the-pah-locus-in-the-iranian-population-familial-gene-mutations-and-minihaplotypes
#6
Masoumeh Razipour, Elaheh Alavinejad, Seyede Zahra Sajedi, Saeed Talebi, Mona Entezam, Neda Mohajer, Golnaz-Ensieh Kazemi-Sefat, Jalal Gharesouran, Aria Setoodeh, Seyyed Mojtaba Mohaddes Ardebili, Mohammad Keramatipour
Phenylketonuria (PKU), one of the most common inborn errors of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene (PAH). PKU has wide allelic heterogeneity, and over 600 different disease-causing mutations in PAH have been detected to date. Up to now, there have been no reports on the minihaplotype (VNTR/STR) analysis of PAH locus in the Iranian population. The aims of the present study were to determine PAH mutations and minihaplotypes in Iranian families with PAH deficiency and to investigate the correlation between them...
July 4, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28676569/vegf-a-and-neuropilin-1-nrp1-shape-axon-projections-in-the-developing-cns-via-dual-roles-in-neurons-and-blood-vessels
#7
Lynda Erskine, Urielle François, Laura Denti, Andy Joyce, Miguel Tillo, Freyja Bruce, Neil Vargesson, Christiana Ruhrberg
Visual information is relayed from the eye to the brain via retinal ganglion cell (RGC) axons. Mice lacking NRP1 or NRP1-binding VEGF-A isoforms have defective RGC axon organisation alongside brain vascular defects. It is not known whether axonal defects are caused exclusively by defective VEGF-A signalling in RGCs or are exacerbated by abnormal vascular morphology. Targeted NRP1 ablation in RGCs with a Brn3b(Cre) knock-in allele reduced axonal midline crossing at the optic chiasm and optic tract fasciculation...
July 1, 2017: Development
https://www.readbyqxmd.com/read/28673246/effects-of-ampd1-gene-c34t-polymorphism-on-cardiac-index-blood-pressure-and-prognosis-in-patients-with-cardiovascular-diseases-a-meta-analysis
#8
Ai-Fang Feng, Zhong-Hui Liu, Shu-Long Zhou, Shi-Yuan Zhao, Yan-Xin Zhu, Huai-Xin Wang
BACKGROUND: The meta-analysis was aimed to evaluate the effects of AMPD1 gene C34T polymorphism on cardiac function indexes, blood pressure and prognosis in patients with cardiovascular diseases (CVD). METHODS: Eligible studies were retrieved through a comprehensive search of electronic databases and manual search. Then the high-quality studies met the rigorous inclusion and exclusion criteria, as well as related to the subject was selected for the study. Comprehensive data analyses were conducted using STATA software 12...
July 3, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28662358/interaction-between-the-adh1b-3-allele-and-drinking-motives-on-alcohol-use-among-black-college-students
#9
Michelle J Zaso, Jessica M Desalu, Jueun Kim, Kavita Suryadevara, John M Belote, Aesoon Park
BACKGROUND: Black young adults have lower rates of alcohol use than other racial groups. Genetic factors may protect against drinking. Specifically, the ADH1B*3 allele is present almost exclusively in Black populations and has been protective against alcohol use and alcohol use disorder. The protective effects of the ADH1B*3 allele, however, may differ as a function of alcohol-promoting cognitions. OBJECTIVES: The current study examined whether ADH1B*3 moderated relations of drinking motives with alcohol consumption among Black college drinkers...
June 29, 2017: American Journal of Drug and Alcohol Abuse
https://www.readbyqxmd.com/read/28662356/a-population-based-study-of-effects-of-genetic-loci-on-orofacial-clefts
#10
L M Moreno Uribe, T Fomina, R G Munger, P A Romitti, M M Jenkins, H K Gjessing, M Gjerdevik, K Christensen, A J Wilcox, J C Murray, R T Lie, G L Wehby
Prior genome-wide association studies for oral clefts have focused on clinic-based samples with unclear generalizability. Prior samples were also small for investigating effects by cleft type and exclusively studied isolated clefts (those occurring without other birth defects). We estimated the effects of 17 top loci on cleft types in both isolated and nonisolated cases in the largest consortium to date of European-descent population-based studies. Our analytic approach focused on a mother-child dyad case-control design, but it also allowed analyzing mother-only or child-only genotypes to maximize power...
June 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28662107/highly-mutable-tandem-dna-repeats-generate-a-cell-wall-protein-variant-more-frequent-in-disease-causing-candida-albicans-isolates-than-in-commensal-isolates
#11
Zhuo Zhou, Zoe Jordens, Shuguang Zhang, Ningxin Zhang, Jan Schmid
During adaptation to host environments, many microorganisms alter their cell surface. One mechanism for doing so is variation in the number of amino acid repeats in cell surface proteins encoded by hypermutable DNA tandem repeats. In the yeast Candida albicans, an opportunistic human pathogen, the gene SSR1 encodes a GPI-anchored cell wall protein with a structural role. It contains two regions consisting of tandem repeats, almost exclusively encoding the amino acid pair Ser-Ala. As expected, the repeat regions make SSR1 highly mutable...
2017: PloS One
https://www.readbyqxmd.com/read/28652245/unpaired-extracellular-cysteine-mutations-of-csf3r-mediate-gain-or-loss-of-function
#12
Haijiao Zhang, Sophie Means, Anna Reister Schultz, Kevin Watanabe-Smith, Bruno C Medeiros, Daniel Bottomly, Beth Wilmot, Shannon K McWeeney, Tim Kükenshöner, Oliver Hantschel, Jeffrey W Tyner
Exclusive of membrane-proximal mutations seen commonly in chronic neutrophilic leukemia (e.g. T618I), functionally defective mutations in the extracellular domain of the granulocyte colony-stimulating factor receptor (CSF3R) have been reported only in severe congenital and idiopathic neutropenia patients. Here we describe the first activating mutation in the fibronectin like type III domain of the extracellular region of CSF3R (W341C) in a leukemia patient. This mutation transformed cells via cysteine-mediated intermolecular disulfide bonds, leading to receptor dimerization...
June 26, 2017: Cancer Research
https://www.readbyqxmd.com/read/28646043/an-efficient-flp-based-toolkit-for-spatiotemporal-control-of-gene-expression-in-caenorhabditis-elegans
#13
Celia María Muñoz-Jiménez, Cristina Ayuso, Agnieszka Dobrzynska, Antonio Torres, Patricia de la Cruz Ruiz, Peter Askjaer
Site-specific recombinases are potent tools to regulate gene expression. In particular, the Cre and FLP enzymes are widely used to either activate or inactivate genes in a precise spatiotemporal manner. Both recombinases work efficiently in the popular model organism Caenorhabditis elegans but their use in this nematode is still only sporadic. To increase the utility of the FLP system in C. elegans we have generated a series of single-copy transgenic strains that stably express an optimized version of FLP in specific tissues or by heat induction...
June 23, 2017: Genetics
https://www.readbyqxmd.com/read/28628900/evaluation-of-the-innotyper-%C3%A2-21-genotyping-kit-in-multi-ethnic-populations
#14
Peter Gustav Ristow, Nicole Barnes, Gina Pineda Murphy, Hiromi Brown, Kevin Wesley Cloete, Maria Eugenia D'Amato
We report the findings of the evaluation of the InnoTyper(®) 21 genotyping kit for the use of human identification (HID) and paternity testing in South Africa. This novel forensic kit evaluates 20 retrotransposable elements (AC4027, MLS26, ALU79712, NBC216, NBC106, RG148, NBC13, AC2265, MLS09, AC1141, TARBP, AC2305, HS4.69, NBC51, ACA1766, NBC120, NBC10, NBC102, SB19.12 and NBC148) and the Amelogenin locus for sex determination. The evaluation of the genotyping performance showed no significant spectral pull-up for peak heights between 100 and 30,000 RFUs...
June 7, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28624837/clinical-response-to-non-surgical-periodontal-treatment-in-patients-with-interleukin-6-and-interleukin-10-polymorphisms
#15
G-S Chatzopoulos, A-E Doufexi, A Kouvatsi
BACKGROUND: Genetic polymorphisms are commonly associated with altered transcriptional activity and possibly make individuals more susceptible to periodontal disease development, increased disease severity and poor treatment outcome. The study aimed to determine the effect of Interleukin-6 (IL-6) -572 G/C (rs1800796) and IL-10 -592 C/A (rs1800872) polymorphisms on the outcomes of non-surgical periodontal therapy in a Caucasian population. MATERIAL AND METHODS: Sixty-eight patients with chronic periodontal disease were grouped according to their genotype: IL-6, IL-10, IL-6 and IL-10 susceptible (SCP) and non-susceptible (NSCP)...
July 1, 2017: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/28619083/on-marker-based-parentage-verification-via-non-linear-optimization
#16
Vinzent Boerner
BACKGROUND: Parentage verification by molecular markers is mainly based on short tandem repeat markers. Single nucleotide polymorphisms (SNPs) as bi-allelic markers have become the markers of choice for genotyping projects. Thus, the subsequent step is to use SNP genotypes for parentage verification as well. Recent developments of algorithms such as evaluating opposing homozygous SNP genotypes have drawbacks, for example the inability of rejecting all animals of a sample of potential parents...
June 15, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/28613042/allele-frequencies-of-15-str-loci-in-bosnian-and-herzegovinian-population
#17
Amela Pilav, Naris Pojskić, Anesa Ahatović, Mirela Džehverović, Jasmina Čakar, Damir Marjanović
AIM: To determine newest the most accurate allele frequencies for 15 short tandem repeat (STR) loci in the Bosnian and Herzegovinian population, calculate statistical parameters, and compare them with the relevant data for seven neighboring populations. METHODS: Genomic DNA was obtained from buccal swabs of 1000 unrelated individuals from all regions of Bosnia and Herzegovina. Genotyping was performed using PowerPlex® 16 System to obtain allele frequencies for 15 polymorphic STR loci including D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, vWA, D8S1179, TPOX, and FGA...
June 14, 2017: Croatian Medical Journal
https://www.readbyqxmd.com/read/28608987/smarca4-inactivating-mutations-cause-concomitant-coffin-siris-syndrome-microphthalmia-and-small-cell-carcinoma-of-the-ovary-hypercalcemic-type
#18
Edoardo Errichiello, Noor Mustafa, Annalisa Vetro, Lucia Dora Notarangelo, Hugo de Jonge, Berardo Rinaldi, Debora Vergani, Sabrina Rita Giglio, Patrizia Morbini, Orsetta Zuffardi
SMARCA4 chromatin remodeling factor is mutated in 11% of Coffin-Siris syndrome (CSS) patients and in almost all small cell carcinoma of the ovary hypercalcemic type (SCCOHT) tumors. Missense mutations with gain-of-function or dominant-negative effects are associated with CSS, whereas inactivating mutations, leading to loss of SMARCA4 expression, have been exclusively found in SCCOHT. We applied whole exome sequencing to study a 15-year-old patient with mild CSS who concomitantly developed SCCOHT at age 13 years...
June 13, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28606620/efficacy-and-safety-of-lumacaftor-and-ivacaftor-in-patients-aged-6-11-years-with-cystic-fibrosis-homozygous-for-f508del-cftr-a-randomised-placebo-controlled-phase-3-trial
#19
Felix Ratjen, Christopher Hug, Gautham Marigowda, Simon Tian, Xiaohong Huang, Sanja Stanojevic, Carlos E Milla, Paul D Robinson, David Waltz, Jane C Davies
BACKGROUND: Lumacaftor and ivacaftor combination treatment showed efficacy in patients aged 12 years or older with cystic fibrosis homozygous for F508del-cystic fibrosis transmembrane conductance regulator (CFTR) in placebo-controlled studies and patients aged 6-11 years with cystic fibrosis homozygous for F508del-CFTR in an open-label study. We report efficacy and safety of lumacaftor and ivacaftor in patients with cystic fibrosis aged 6-11 years homozygous for F508del-CFTR. METHODS: In this phase 3, randomised, double-blind, placebo-controlled, multicentre study, patients were enrolled at 54 hospitals and medical centres in nine countries (the USA, Australia, Belgium, Canada, Denmark, France, Germany, Sweden, and the UK)...
June 8, 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/28600722/genetic-dissection-of-plant-growth-habit-in-chickpea
#20
Hari D Upadhyaya, Deepak Bajaj, Rishi Srivastava, Anurag Daware, Udita Basu, Shailesh Tripathi, Chellapilla Bharadwaj, Akhilesh K Tyagi, Swarup K Parida
A combinatorial genomics-assisted breeding strategy encompassing association analysis, genetic mapping and expression profiling is found most promising for quantitative dissection of complex traits in crop plants. The present study employed GWAS (genome-wide association study) using 24,405 SNPs (single nucleotide polymorphisms) obtained with genotyping-by-sequencing (GBS) of 92 sequenced desi and kabuli accessions of chickpea. This identified eight significant genomic loci associated with erect (E)/semi-erect (SE) vs...
June 9, 2017: Functional & Integrative Genomics
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