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https://www.readbyqxmd.com/read/29780325/proteomics-of-stored-red-blood-cell-membrane-and-storage-induced-microvesicles-reveals-the-association-of-flotillin-2-with-band-3-complexes
#1
Michel Prudent, Julien Delobel, Aurélie Hübner, Corinne Benay, Niels Lion, Jean-Daniel Tissot
The storage of erythrocyte concentrates (ECs) induces lesions that notably affect metabolism, protein activity, deformability of red blood cells (RBCs), as well as the release of oxygen. Band 3 is one of the proteins affected during the ex vivo aging of RBCs. This membrane protein is an anion transporter, an anchor site for the cytoskeleton and other membrane proteins as well as a binding site for glycolytic enzymes and bears blood group antigens. In the present study, band 3 complexes were isolated from RBCs stored for 7 and 42 days in average ( n = 3), as well as from microvesicles ( n = 3)...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29768408/a-homozygous-kat2b-variant-modulates-the-clinical-phenotype-of-add3-deficiency-in-humans-and-flies
#2
Sara Gonçalves, Julie Patat, Maria Clara Guida, Noelle Lachaussée, Christelle Arrondel, Martin Helmstädter, Olivia Boyer, Olivier Gribouval, Marie-Claire Gubler, Geraldine Mollet, Marlène Rio, Marina Charbit, Christine Bole-Feysot, Patrick Nitschke, Tobias B Huber, Patricia G Wheeler, Devon Haynes, Jane Juusola, Thierry Billette de Villemeur, Caroline Nava, Alexandra Afenjar, Boris Keren, Rolf Bodmer, Corinne Antignac, Matias Simons
Recent evidence suggests that the presence of more than one pathogenic mutation in a single patient is more common than previously anticipated. One of the challenges hereby is to dissect the contribution of each gene mutation, for which animal models such as Drosophila can provide a valuable aid. Here, we identified three families with mutations in ADD3, encoding for adducin-γ, with intellectual disability, microcephaly, cataracts and skeletal defects. In one of the families with additional cardiomyopathy and steroid-resistant nephrotic syndrome (SRNS), we found a homozygous variant in KAT2B, encoding the lysine acetyltransferase 2B, with impact on KAT2B protein levels in patient fibroblasts, suggesting that this second mutation might contribute to the increased disease spectrum...
May 16, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29739876/the-actin-cytoskeleton-of-the-mouse-sperm-flagellum-is-organized-in-a-helical-structure
#3
María Gracia Gervasi, Xinran Xu, Blanca Carbajal-Gonzalez, Mariano G Buffone, Pablo E Visconti, Diego Krapf
Conception of a new mammalian organism is determined by the fusion of a sperm cell with an oocyte during fertilization. Motility is one of the features of sperm that allows them to succeed in fertilization, and their flagellum is essential for this function. Longitudinally, the flagellum divides into the midpiece, the principal piece, and the end piece. A precise cytoskeletal architecture of the sperm tail is key for the acquisition of fertilization competence. It has been proposed that the actin cytoskeleton plays essential roles in the regulation of sperm motility, however, actin organization in sperm remains elusive...
May 8, 2018: Journal of Cell Science
https://www.readbyqxmd.com/read/29527980/genetic-variants-in-add1-gene-and-their-associations-with-growth-traits-in-cattle
#4
Yong-Zhen Huang, Li-Na Qian, Jian Wang, Chun-Lei Zhang, Xing-Tang Fang, Chu-Zhao Lei, Xian-Yong Lan, Yun Ma, Yue-Yu Bai, Feng-Peng Lin, Hong Chen
The α-adducin (ADD1) is a subunit of adducin which is a cytoskeleton heterodimeric protein. Adducin participates in oocytes chromosome meiosis of mice, prompting adducin has an effect on embryonic development. Adducin gene mutation has significantly functional change. So the present study was to identify and characterize polymorphisms within the coding region of the bovine ADD1 gene among different cattle breeds. Here, 11 novel single nucleotide polymorphisms (SNPs 1-11) were identified by DNA sequencing and polymerase chain reaction-single stranded conformational polymorphism, there were one synonymous mutation in exon 1 (SNP1); four missense mutations in exons 4, 7, and 8 (SNPs 3-6); and six mutations in introns 4, 12, 13, and 14 (SNPs 2, 7-10)...
March 12, 2018: Animal Biotechnology
https://www.readbyqxmd.com/read/29508064/single-nucleotide-polymorphisms-within-adducin-3-and-adducin-3-antisense-rna1-genes-are-associated-with-biliary-atresia-in-thai-infants
#5
Wison Laochareonsuk, Piyawan Chiengkriwate, Surasak Sangkhathat
BACKGROUND: A genome-wide association study in East Asians suggested a genetic association between biliary atresia (BA) and a cluster of variants within the Adducin 3 (ADD3) and ADD3 antisense RNA1 (ADD3-AS1) genes. Another study in Thai neonates reported an association between BA and rs17095355. To validate those findings, this study aimed to analyze the BA association with single nucleotide polymorphisms (SNPs) and the additive influence of ADD3 and ADD3-AS1 in Thai neonates. METHODS: DNAs from 56 BA cases and 166 controls were genotyped for rs2501577, rs11194981, rs12268910 (ADD3) and rs17095355 (ADD3-AS1), using TaqMan PCR...
May 2018: Pediatric Surgery International
https://www.readbyqxmd.com/read/29386104/super-resolution-microscopy-reveals-the-native-ultrastructure-of-the-erythrocyte-cytoskeleton
#6
Leiting Pan, Rui Yan, Wan Li, Ke Xu
The erythrocyte cytoskeleton is a textbook prototype for the submembrane cytoskeleton of metazoan cells. While early experiments suggest a triangular network of actin-based junctional complexes connected by ∼200-nm-long spectrin tetramers, later studies indicate much smaller junction-to-junction distances in the range of 25-60 nm. Through super-resolution microscopy, we resolve the native ultrastructure of the cytoskeleton of membrane-preserved erythrocytes for the N and C termini of β-spectrin, F-actin, protein 4...
January 30, 2018: Cell Reports
https://www.readbyqxmd.com/read/29049185/relationship-between-add1-gly460trp-gene-polymorphism-and-essential-hypertension-in-madeira-island
#7
Ana Célia Sousa, Roberto Palma Dos Reis, Andreia Pereira, Sofia Borges, Ana Isabel Freitas, Graça Guerra, Teresa Góis, Mariana Rodrigues, Eva Henriques, Sónia Freitas, Ilídio Ornelas, Décio Pereira, António Brehm, Maria Isabel Mendonça
Essential hypertension (EH) is a complex disease in which physiological, environmental, and genetic factors are involved in its genesis. The genetic variant of the alpha-adducin gene (ADD1) has been described as a risk factor for EH, but with controversial results.The objective of this study was to evaluate the association of ADD1 (Gly460Trp) gene polymorphism with the EH risk in a population from Madeira Island.A case-control study with 1614 individuals of Caucasian origin was performed, including 817 individuals with EH and 797 controls...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29032200/sez6l2-regulates-phosphorylation-of-add-and-neuritogenesis
#8
Hiroaki Yaguchi, Ichiro Yabe, Hidehisa Takahashi, Masashi Watanabe, Taichi Nomura, Takahiro Kano, Masaki Matsumoto, Keiichi I Nakayama, Masahiko Watanabe, Shigetsugu Hatakeyama
Increasing evidence shows that immune-mediated mechanisms may contribute to the pathogenesis of central nervous system disorders including cerebellar ataxias, as indicated by the aberrant production of neuronal surface antibodies. We previously reported a patient with cerebellar ataxia associated with production of a new anti-neuronal antibody, anti-seizure-related 6 homolog like 2 (Sez6l2). Sez6l2 is a type 1 membrane protein that is highly expressed in the hippocampus and cerebellar cortex and mice lacking Sez6l2 protein family members develop ataxia...
December 9, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29028685/use-of-genetic-algorithm-combinational-single-nucleotide-polymorphisms-could-modify-the-association-of-blood-lead-levels-and-bone-matrix-density
#9
Chien-Juan Chen, Hsueh-Wei Chang, Cheng-Hong Yang, Hung-Yi Chuang, Hsin-Su Yu
BACKGROUND: Previous studies have not explored the relationship between a single gene and a single disease. Our study aims to investigate the association of multiple genotypes with blood lead levels and bone matrix density (BMD) by using genetic algorithms. METHODS: Our research focused on 506 employees (245 males and 261 females) of a lead battery factory in Taiwan. We collected data on their BMD, blood lead level, and 6 SNPs (ACE, alpha-adducin, Bsm, Tag, Apa, and ALAD); these factors were analyzed using discrete binary particle swarm optimization (DBPSO) and logistic regression analysis...
October 2017: Epidemiology
https://www.readbyqxmd.com/read/28982183/nima-related-kinase-1-nek1-regulates-meiosis-i-spindle-assembly-by-altering-the-balance-between-%C3%AE-adducin-and-myosin-x
#10
Miguel A Brieño-Enríquez, Stefannie L Moak, J Kim Holloway, Paula E Cohen
NIMA-related kinase 1 (NEK1) is a serine/threonine and tyrosine kinase that is highly expressed in mammalian germ cells. Mutations in Nek1 induce anemia, polycystic kidney and infertility. In this study we evaluated the role of NEK1 in meiotic spindle formation in both male and female gametes. Our results show that the lack of NEK1 provokes an abnormal organization of the meiosis I spindle characterized by elongated and/or multipolar spindles, and abnormal chromosome congression. The aberrant spindle structure is concomitant with the disruption in localization and protein levels of myosin X (MYO10) and α-adducin (ADD1), both of which are implicated in the regulation of spindle formation during mitosis...
2017: PloS One
https://www.readbyqxmd.com/read/28902846/downregulation-of-microrna-145-may-contribute-to-liver-fibrosis-in-biliary-atresia-by-targeting-add3
#11
Yongqin Ye, Zhihan Li, Qi Feng, Zimin Chen, Zhouguang Wu, Jianyao Wang, Xiaoshuo Ye, Dahao Zhang, Lei Liu, Wei Gao, Lihui Zhang, Bin Wang
BACKGROUND AND OBJECTIVES: Biliary atresia (BA) is a pediatric liver disease characterized by fibro-obliteration and obstruction of the extrahepatic biliary system, that invariably leads to cirrhosis and even death, if left untreated for extended time. However, its pathology and etiology still remained unknown. In this study, we tested the expression of adducin 3 (ADD3), the gene identified as a susceptibility gene in BA by GWAS, and uncovered its upstream regulatory microRNA in the pathogenesis of BA...
2017: PloS One
https://www.readbyqxmd.com/read/28748416/cryoprotective-effect-of-resveratrol-on-dna-damage-and-crucial-human-sperm-messenger-rnas-possibly-through-5-amp-activated-protein-kinase-activation
#12
Maryam Shabani Nashtaei, Saeid Nekoonam, Mohammad Naji, Shabnam Bakhshalizadeh, Fardin Amidi
This work aimed at investigating the effect of resveratrol on (1) DNA integrity and (2) fertilizing capacity of sperm by quantifying the presence of key paternal transcripts considered as markers for male fertility (protamine 1 [PRM1] and protamine 2 [PRM2]) and pregnancy success (adducin 1 alpha [ADD1]) in cryopreserved human spermatozoa through modulation of AMP-activated protein kinase (AMPK). The study populations was drawn from 22 normozoospermic healthy volunteers which were incubated with or without AMPK activator (resveratrol [RSV], 15 µM) or inhibitor (Compound C [CC], 30 µM) for 1 h and were then cryopreserved...
March 2018: Cell and Tissue Banking
https://www.readbyqxmd.com/read/28686109/%C3%AE-adducin-gene-promoter-dna-methylation-and-the-risk-of-essential-hypertension
#13
Nervana M K Bayoumy, Mohamed M El-Shabrawi, Ola Farouk Leheta, Hamdy Hassan Omar
This study was conducted to test the association between promoter DNA methylation of α-Adducin (ADD1) gene and the risk of essential hypertension (EH). A total of 150 EH patients and 100 aged- and gender-matched controls were investigated. DNA methylation levels of five cytosine-phosphate-guanine (CpG) dinucleotides on ADD1 promoter were measured employing bisulfite pyrosequencing technology. Our results showed that females have a higher ADD1 DNA methylation than males and a significantly lower CpG1 methylation level is associated with increased risk of EH among them...
July 7, 2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28648322/induction-of-type-2-diabetes-mellitus-with-antihypertensive-therapy-is-there-any-role-of-alpha-adducin-ace-and-irs-1-gene
#14
REVIEW
Sumeet Gupta, Vikas Jhawat
Hypertension and diabetes are related disorders that share common pathophysiological pathways and occur together. Although hypertension itself is a risk factor for developing diabetes, prolonged use of first-line antihypertensive therapy has also been reported to induce diabetes. Genetic polymorphism of genes affecting salt sensitivity and insulin resistance can have a role in antihypertensive therapy-induced diabetes. Polymorphism of the alpha adducin gene, angiotensin-converting enzyme gene, and insulin receptor substrate 1 gene has been found to be associated with new incident diabetes in hypertensive patients via salt sensitivity and insulin resistance...
May 2017: Value in Health Regional Issues
https://www.readbyqxmd.com/read/28628114/oncoprotein-znf322a-transcriptionally-deregulates-alpha-adducin-cyclin-d1-and-p53-to-promote-tumor-growth-and-metastasis-in-lung-cancer
#15
J Jen, L-L Lin, F-Y Lo, H-T Chen, S-Y Liao, Y-A Tang, W-C Su, R Salgia, C-L Hsu, H-C Huang, H-F Juan, Y-C Wang
This corrects the article DOI: 10.1038/onc.2015.296.
September 7, 2017: Oncogene
https://www.readbyqxmd.com/read/28490361/adducin-family-proteins-possess-different-nuclear-export-potentials
#16
Chia-Mei Liu, Wen-Hsin Hsu, Wan-Yi Lin, Hong-Chen Chen
BACKGROUND: The adducin (ADD) family proteins, namely ADD1, ADD2, and ADD3, are actin-binding proteins that play important roles in the stabilization of membrane cytoskeleton and cell-cell junctions. All the ADD proteins contain a highly conserved bipartite nuclear localization signal (NLS) at the carboxyl termini, but only ADD1 can localize to the nucleus. The reason for this discrepancy is not clear. METHODS: To avoid the potential effect of cell-cell junctions on the distribution of ADD proteins, HA epitope-tagged ADD proteins and mutants were transiently expressed in NIH3T3 fibroblasts and their distribution in the cytoplasm and nucleus was examined by immunofluorescence staining...
May 10, 2017: Journal of Biomedical Science
https://www.readbyqxmd.com/read/28476036/adducin-in-tumorigenesis-and-metastasis
#17
REVIEW
Cong Luo, Jiayu Shen
Adducin is a membrane-skeletal protein localized at spectrin-actin junctions, involving in the formation of the network of cytoskeleton, cellular signal transduction, ionic transportation, cell motility and cell proliferation. While previous researches focused mainly on the relationship between adducin and hypertension, there are few studies focusing on the role of adducin in tumor. Previous studies showed that adducin played a role in the evolution and progression of neoplasm. This review makes a brief summary on the structure, function and mechanism of adducin and how adducin functions in tumorigenesis and metastasis...
July 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28368404/oncoprotein-znf322a-transcriptionally-deregulates-alpha-adducin-cyclin-d1-and-p53-to-promote-tumor-growth-and-metastasis-in-lung-cancer
#18
J Jen, L-L Lin, F-Y Lo, H-T Chen, S-Y Liao, Y-A Tang, W-C Su, R Salgia, C-L Hsu, H-C Huang, H-F Juan, Y-C Wang
This corrects the article DOI: 10.1038/onc.2015.296.
August 2017: Oncogene
https://www.readbyqxmd.com/read/28072414/evidence-for-genetic-heterogeneity-between-clinical-subtypes-of-bipolar-disorder
#19
A W Charney, D M Ruderfer, E A Stahl, J L Moran, K Chambert, R A Belliveau, L Forty, K Gordon-Smith, A Di Florio, P H Lee, E J Bromet, P F Buckley, M A Escamilla, A H Fanous, L J Fochtmann, D S Lehrer, D Malaspina, S R Marder, C P Morley, H Nicolini, D O Perkins, J J Rakofsky, M H Rapaport, H Medeiros, J L Sobell, E K Green, L Backlund, S E Bergen, A Juréus, M Schalling, P Lichtenstein, P Roussos, J A Knowles, I Jones, L A Jones, C M Hultman, R H Perlis, S M Purcell, S A McCarroll, C N Pato, M T Pato, N Craddock, M Landén, J W Smoller, P Sklar
We performed a genome-wide association study of 6447 bipolar disorder (BD) cases and 12 639 controls from the International Cohort Collection for Bipolar Disorder (ICCBD). Meta-analysis was performed with prior results from the Psychiatric Genomics Consortium Bipolar Disorder Working Group for a combined sample of 13 902 cases and 19 279 controls. We identified eight genome-wide significant, associated regions, including a novel associated region on chromosome 10 (rs10884920; P=3.28 × 10-8 ) that includes the brain-enriched cytoskeleton protein adducin 3 (ADD3), a non-coding RNA, and a neuropeptide-specific aminopeptidase P (XPNPEP1)...
January 10, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28040068/association-between-alpha-adducin-gene-rs4963-polymorphism-and-hypertension-risk-in-asian-population-a-meta-analysis
#20
Y-L Qu, C-M Wu, L-X Zhang, B-L Wen, X Zhang, C Ma, X-Y Yan, H-B Cui, D-M Wang, Y-R Ji
Some studies investigated the association between ADD1 rs4963 polymorphism and hypertension risk. However, the results remained inconclusive. Thus, we performed a meta-analysis. Published reports were searched in PubMed and Google Scholar. The strength of association was assessed by calculating odds ratios (OR) and 95% confidence interval (CI). Twelve studies with 5097 cases and 5937 controls were conducted in this study. Individuals with ADD1 rs4963 polymorphism showed an increased hypertension risk (OR = 1...
November 30, 2016: Cellular and Molecular Biology
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