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https://www.readbyqxmd.com/read/28806188/tubulointerstitial-nephritis-and-uveitis
#1
Kaivon Pakzad-Vaezi, Kathryn L Pepple
PURPOSE OF REVIEW: Tubulointerstitial nephritis and uveitis (TINU) is an important yet underrecognized ocular inflammatory syndrome. This review summarizes key historical publications that identified and defined the syndrome, and more recent literature that reveal the importance of urinary β2-microglobulin testing and kidney biopsy in the diagnostic evaluation of patients with TINU. Additionally, research studies providing new insights into disease pathogenesis are highlighted. RECENT FINDINGS: In contrast with initial reports of TINU manifesting exclusively as an anterior uveitis in pediatric patients, more recent reports have identified TINU in patients of all ages with a wide range of ocular manifestations...
August 12, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28775003/interference-with-gs%C3%AE-coupled-receptor-signaling-in-renin-producing-cells-leads-to-renal-endothelial-damage
#2
Peter Lachmann, Linda Hickmann, Anne Steglich, Moath Al-Mekhlafi, Michael Gerlach, Niels Jetschin, Steffen Jahn, Brigitte Hamann, Monika Wnuk, Kirsten Madsen, Valentin Djonov, Min Chen, Lee S Weinstein, Bernd Hohenstein, Christian P M Hugo, Vladimir T Todorov
Intracellular cAMP, the production of which is catalyzed by the α-subunit of the stimulatory G protein (Gsα), controls renin synthesis and release by juxtaglomerular (JG) cells of the kidney, but may also have relevance for the physiologic integrity of the kidney. To investigate this possibility, we generated mice with inducible knockout of Gsα in JG cells and monitored them for 6 months after induction at 6 weeks of age. The knockout mapped exclusively to the JG cells of the Gsα-deficient animals. Progressive albuminuria occurred in Gsα-deficient mice...
August 3, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28768685/genetic-dissection-of-early-endosomal-recycling-highlights-a-torc1-independent-role-for-rag-gtpases
#3
Chris MacDonald, Robert C Piper
Endocytosed cell surface membrane proteins rely on recycling pathways for their return to the plasma membrane. Although endosome-to-plasma membrane recycling is critical for many cellular processes, much of the required machinery is unknown. We discovered that yeast has a recycling route from endosomes to the cell surface that functions efficiently after inactivation of the sec7-1 allele of Sec7, which controls transit through the Golgi. A genetic screen based on an engineered synthetic reporter that exclusively follows this pathway revealed that recycling was subject to metabolic control through the Rag GTPases Gtr1 and Gtr2, which work downstream of the exchange factor Vam6...
August 2, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28758129/the-association-of-haptoglobin-gene-variants-and-retinopathy-in-type-2-diabetic-patients-a-meta-analysis
#4
REVIEW
Huiqun Wu, Huan Wu, Lili Shi, Xinlu Yuan, Ying Yin, Mingjie Yuan, Yushan Zhou, Qianwen Hu, Kui Jiang, Jiancheng Dong
AIMS/INTRODUCTION: To collectively evaluate the association between haptoglobin (Hp) gene variants and diabetic retinopathy (DR) in patients with type 2 diabetes mellitus (T2DM). METHODS: A comprehensive literature review was performed for eligible studies. After inclusion and exclusion selection as well as quality assessment, those studies meeting quality standards were included. In this study, diabetic patients with retinopathy were selected as the case group and those ones without DR were treated as the control group...
2017: Journal of Diabetes Research
https://www.readbyqxmd.com/read/28749454/the-association-of-low-penetrance-variants-in-dna-repair-genes-with-colorectal-cancer-a-systematic-review-and-meta-analysis
#5
Nikhil Aggarwal, Neil D Donald, Salim Malik, Subothini S Selvendran, Mark Jw McPhail, Kevin J Monahan
OBJECTIVES: Approximately 35% of colorectal cancer (CRC) risk is attributable to heritable factors known hereditary syndromes, accounting for 6%. The remainder may be due to lower penetrance polymorphisms particularly of DNA repair genes. DNA repair pathways, including base excision repair (BER), nucleotide excision repair (NER), mismatch repair (MMR), direct reversal repair (DRR), and double-strand break repair are complex, evolutionarily conserved, and critical in carcinogenesis. Germline mutations in these genes are associated with high-penetrance CRC syndromes such as Lynch syndrome...
July 27, 2017: Clinical and Translational Gastroenterology
https://www.readbyqxmd.com/read/28746047/genetic-variation-and-forensic-characteristic-analysis-of-25-strs-of-a-novel-fluorescence-co-amplification-system-in-chinese-southern-shaanxi-han-population
#6
Yao-Shun Liu, Jian-Gang Chen, Ting Mei, Yu-Xin Guo, Hao-Tian Meng, Jian-Fei Li, Yuan-Yuan Wei, Xiao-Ye Jin, Bo-Feng Zhu, Li-Ping Zhang
We analyzed the genetic polymorphisms of 15 autosomal and 10 Y-chromosomal STR loci in 214 individuals of Han population from Southern Shaanxi of China and studied the genetic relationships between Southern Shaanxi Han and other populations. We observed a total of 150 alleles at 15 autosomal STR loci with the corresponding allelic frequencies ranging from 0.0023 to 0.5210, and the combined power of discrimination and exclusion for the 15 autosomal STR loci were 0.99999999999999998866 and 0.999998491, respectively...
July 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28745447/commentary-perspectives-on-alcohol-related-gene-and-environment-interplay-in-diverse-populations
#7
Marcia S Scott
BACKGROUND AND OBJECTIVES: Racial/ethnic groups comprise more than 20% of the U.S. population, but many experience disproportionately high risk for alcohol misuse, often resulting in higher rates of alcohol-associated consequences. Completion of mapping the human genome has launched rapidly evolving research methods aimed at improved understanding of genetic contribution to disease. Despite decades of research on the influence of genetic and environmental risks on alcohol use disorders and outcomes, few studies have included racial/ethnic subpopulations in sufficient numbers to allow for proper statistical analysis...
August 2017: American Journal on Addictions
https://www.readbyqxmd.com/read/28744936/molecular-combing-reveals-complex-4q35-rearrangements-in-facioscapulohumeral-dystrophy
#8
Karine Nguyen, Francesca Puppo, Stéphane Roche, Marie-Cécile Gaillard, Charlène Chaix, Arnaud Lagarde, Marjorie Pierret, Catherine Vovan, Sylviane Olschwang, Emmanuelle Salort-Campana, Shahram Attarian, Marc Bartoli, Rafaëlle Bernard, Frédérique Magdinier, Nicolas Levy
Facioscapulohumeral dystrophy (FSHD), one of the most common hereditary neuromuscular disorders, is associated with a complex combination of genetic variations at the subtelomeric 4q35 locus. As molecular diagnosis relying on Southern blot (SB) might be challenging in some cases, molecular combing (MC) was recently developed as an additional technique for FSHD diagnosis and exploration of the genomic organization of the 4q35 and 10q26 regions. In complement to the usual SB, we applied MC in a large cohort of 586 individuals with clinical FSHD...
July 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28733797/population-genetic-analysis-of-a-21-plex-dip-panel-in-seven-chinese-ethnic-populations
#9
Youjing Jiang, Wang He, Hui Wang, Dan Chen, Xiaogang Bai, Jienan Li, Weibo Liang, Lin Zhang
A 21-plex DIP (deletion and insertion polymorphism) panel has a good performance in analyzing biogeographic ancestry in three main global population groups (European, African, and Asian). This panel was used to investigate 450 unrelated individuals in seven Chinese ethnic groups (Han, Dong, Miao, Zhuang, Uyghur, Tibetan, and Mongolian). Allele frequencies were calculated. Mho (mean value of observed heterozygosity) ranged from 0.3019 to 0.4367, MHe (mean value of expected heterozygosity) ranged from 0.31175 to 0...
July 21, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28700716/improved-high-sensitivity-screen-for-huntington-disease-using-a-one-step-triplet-primed-pcr-and-melting-curve-assay
#10
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
#11
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-the-n-terminal-domain-of-hmw-1dx5-and-its-contributions-to-dough-functionality
#12
Jing Jing Wang, Guang Liu, Yan-Bo Huang, Qiao-Hui Zeng, Yi Hou, Lin Li, Shiyi Ou, Min Zhang, Song-Qing Hu
The 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, nonreducing/reducing SDS-PAGE, atomic force microscopy, and farinographic analysis...
August 2, 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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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