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https://www.readbyqxmd.com/read/29783071/mef2a-regulates-calpain-3-expression-in-l6-myoblasts
#1
Ronghua Wu, Jun Wang, Jian Yao, Zhangji Dong, Yan Liu, Mei Liu
Calpain 3 (Capn3), a skeletal muscle-specific member of the calpain family, executes some non-proteolytic functions besides its role as a Ca2+ -regulated proteolytic enzyme. Previously, we found that changes in Capn3 expression were linearly correlated with the degree of muscular atrophy following reversible sciatic nerve injury and that knockdown of Capn3 gene expression promoted myoblast differentiation. While the regulation of capn3 gene expression is interesting, transcriptional regulation of Capn3 is still unclear...
May 18, 2018: Gene
https://www.readbyqxmd.com/read/29783046/bacterial-community-of-industrial-raw-sausage-packaged-in-modified-atmosphere-throughout-the-shelf-life
#2
Stefano Raimondi, Maria Rosaria Nappi, Tiziana Maria Sirangelo, Alan Leonardi, Alberto Amaretti, Alessandro Ulrici, Rudy Magnani, Chiara Montanari, Giulia Tabanelli, Fausto Gardini, Maddalena Rossi
Ten lots of industrial raw sausages in modified atmosphere (CO2 30%, O2 70%), produced in the same plant over 7 months, were analyzed at the day after production (S samples) and at the end of shelf life (E samples), after 12 days storage at 7 °C to simulate thermal abuse. Quality of the products was generally compromised by storage at 7 °C, with only 3 E samples without alterations. During the shelf life, the pH decreased for the accumulation of acetic and lactic acids. A few biogenic amines accumulated, remaining below acceptable limits...
April 28, 2018: International Journal of Food Microbiology
https://www.readbyqxmd.com/read/29782842/paraoxonase-1-pon1-l55m-among-common-variants-in-the-coding-region-of-the-paraoxonase-gene-family-may-contribute-to-the-glycemic-control-in-type-2-diabetes
#3
Abdolkarim Mahrooz, Mohammad Bagher Hashemi-Soteh, Masoud Heydari, Ruzbeh Boorank, Fatemeh Ramazani, Ali Mahmoudi, Anvarsadat Kianmehr, Ahad Alizadeh
OBJECTIVE: Genome studies have shown that the genes encoding paraoxonase 1 (PON1) and PON2 are associated with glucose metabolism. The goal of this study was to simultaneously evaluate the association between functional variants in PON1 and PON2 genes and susceptibility for type 2 diabetes (T2D) and determine whether they can affect glycemic control. METHODS: We performed a case-control study with 145 newly diagnosed patients with T2D and 148 controls. The common variants including PON1-Q192R, PON1-L55M and PON2-S311C were genotyped by PCR-based RFLP...
May 18, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29782524/leucocytes-telomere-length-and-breast-cancer-risk-susceptibility-a-case-control-study
#4
Sofia Pavanello, Liliana Varesco, Viviana Gismondi, Paolo Bruzzi, Claudia Bolognesi
BACKGROUND: Telomere length in peripheral blood leukocytes (PBL-TL) was proposed as a biomarker of cancer risk. Recent scientific evidence suggested PBL-TL plays a diverse role in different cancers. Inconsistent results were obtained on PBL-TL in relation to breast cancer risk and specifically to the presence of BRCA1 and BRCA2 mutations. The aim of the present case-control study was to analyse the correlation between family history of breast cancer or presence of a BRCA mutation and PBL-TL in the hypothesis that TL is a modifier of cancer risk...
2018: PloS One
https://www.readbyqxmd.com/read/29782520/polymorphic-sites-preferentially-avoid-co-evolving-residues-in-mhc-class-i-proteins
#5
Linda Dib, Nicolas Salamin, David Gfeller
Major histocompatibility complex class I (MHC-I) molecules are critical to adaptive immune defence mechanisms in vertebrate species and are encoded by highly polymorphic genes. Polymorphic sites are located close to the ligand-binding groove and entail MHC-I alleles with distinct binding specificities. Some efforts have been made to investigate the relationship between polymorphism and protein stability. However, less is known about the relationship between polymorphism and MHC-I co-evolutionary constraints...
May 21, 2018: PLoS Computational Biology
https://www.readbyqxmd.com/read/29782370/a-common-polymorphism-in-the-scn5a-gene-is-associated-with-dilated-cardiomyopathy
#6
Cristina Mazzaccara, Giuseppe Limongelli, Mario Petretta, Rossella Vastarella, Giuseppe Pacileo, Domenico Bonaduce, Francesco Salvatore, Giulia Frisso
AIMS: SCN5A is a disease-causing gene associated with familial dilated cardiomyopathy (FDC). We examined the possible association between a common polymorphism in the SCN5A gene (c.1673A>G-p.H558R; rs1805124) and the risk of dilated cardiomyopathy (DCM) occurrence. METHODS: We genotyped 185 DCM cases (familial DCM, idiopathic DCM and postischemic DCM) and 251 controls for the p.H558R polymorphism in the SCN5A gene, to test the association of the molecular epidemiology of the individuals with the presence/absence of various types of DCM...
May 17, 2018: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/29782216/carbapenemase-producing-carbapenem-resistant-enterobacteriaceae-from-bangkok-thailand-and-their-detection-by-the-carba-np-and-modified-carbapenem-inactivation-method-tests
#7
Warawut Laolerd, Yukihiro Akeda, Likit Preeyanon, Panan Ratthawongjirakul, Pitak Santanirand
AIM: The purpose of the study was to determine the epidemiology of carbapenemase genes among carbapenem-resistant Enterobacteriaceae and evaluate the Carba NP and modified carbapenem inactivation method (mCIM) tests in their detection. MATERIALS AND METHODS: A total of 287 nonduplicated Enterobacteriaceae isolates, which were at least resistant to one of the carbapenems, were identified and detected for carbapenemase genes by multiplex PCR covering blaKPC , blaNDM , blaVIM , blaIMP , and blaOXA-48-like ...
May 21, 2018: Microbial Drug Resistance: MDR: Mechanisms, Epidemiology, and Disease
https://www.readbyqxmd.com/read/29782060/autosomal-dominant-early-onset-spastic-paraparesis-with-brain-calcification-due-to-ifih1-gain-of-function
#8
Lyse Ruaud, Gillian I Rice, Christelle Cabrol, Juliette Piard, Mathieu Rodero, Lien van Eyk, Elise Boucher-Brischoux, Alain Maertens de Noordhout, Ricardo Maré, Emmanuel Scalais, Fernand Pauly, François-Guillaume Debray, William Dobyns, Carolina Uggenti, Ji Woo Park, Sun Hur, John H Livingston, Yanick J Crow, Lionel Van Maldergem
We describe progressive spastic paraparesis in two male siblings and the daughter of one of these individuals. Onset of disease occurred within the first decade, with stiffness and gait difficulties. Brisk deep tendon reflexes and extensor plantar responses were present, in the absence of intellectual disability or dermatological manifestations. Cerebral imaging identified intracranial calcification in all symptomatic family members. A marked upregulation of interferon stimulated gene (ISG) transcripts was recorded in all three affected individuals and in two clinically unaffected relatives...
May 21, 2018: Human Mutation
https://www.readbyqxmd.com/read/29781801/methanonatronarchaeum-thermophilum-gen-nov-sp-nov-and-candidatus-methanohalarchaeum-thermophilum-extremely-halo-natrono-philic-methyl-reducing-methanogens-from-hypersaline-lakes-comprising-a-new-euryarchaeal-class-methanonatronarchaeia-classis-nov
#9
Dimitry Y Sorokin, Alexander Y Merkel, Ben Abbas, Kira S Makarova, W Irene C Rijpstra, M Koenen, Jaap S Sinninghe Damsté, Erwin A Galinski, Eugene V Koonin, Mark C M van Loosdrecht
Methanogenic enrichments from hypersaline lakes at moderate thermophilic conditions have resulted in the cultivation of an unknown deep lineage of euryarchaeota related to the class Halobacteria. Eleven soda lake isolates and three salt lake enrichment cultures were methyl-reducing methanogens that utilize C1 methylated compounds as electron acceptors and H2 or formate as electron donors, but they were unable to grow on either substrates alone or to form methane from acetate. They are extreme halophiles, growing optimally at 4 M total Na+ and the first representatives of methanogens employing the 'salt-in' osmoprotective mechanism...
May 21, 2018: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/29781741/slowly-progressive-retinitis-pigmentosa-caused-by-two-novel-mutations-in-the-mak-gene
#10
Joanna Monika Gray, Harry Otway Orlans, Morag Shanks, Penny Clouston, Robert Elvis MacLaren
BACKGROUND: The growing number of clinical trials currently underway for inherited retinal diseases has highlighted the importance of achieving a molecular diagnosis for all new cases presenting to hospital eye services. The male germ cell-associated kinase (MAK) gene encodes a cilium-associated protein selectively expressed in the retina and testis, and has recently been implicated in autosomal recessive retinitis pigmentosa (RP). Whole exome sequencing has previously identified a homozygous Alu insertion in probands with recessive RP and nonsense and missense mutations have also been reported...
May 21, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29781574/melanocyte-development-in-the-mouse-tail-epidermis-requires-the-adamts9-metalloproteinase
#11
Grace Tharmarajah, Ulrich Eckhard, Fagun Jain, Giada Marino, Anna Prudova, Oscar Urtatiz, Helmut Fuchs, Martin Hrabe de Angelis, Christopher M Overall, Catherine D Van Raamsdonk
The mouse tail has an important role in the study of melanogenesis, because mouse tail skin can be used to model human skin pigmentation. To better understand the development of melanocytes in the mouse tail, we cloned two dominant ENU-generated mutations of the Adamts9 gene, Und3 and Und4, which cause an unpigmented ring of epidermis in the middle of the tail, but do not alter pigmentation in the rest of the mouse. Adamts9 encodes a widely expressed zinc metalloprotease with thrombospondin type 1 repeats with few known substrates...
May 21, 2018: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/29781422/spirocerca-vulpis-sp-nov-spiruridae-spirocercidae-description-of-a-new-nematode-species-of-the-red-fox-vulpes-vulpes-carnivora-canidae
#12
Alicia Rojas, Gloria Sanchis-Monsonís, Amer Alić, Adnan Hodžić, Domenico Otranto, Daniel Yasur-Landau, Carlos Martínez-Carrasco, Gad Baneth
Previous studies have reported nematodes of the Spirocercidae family in the stomach nodules of red foxes (Vulpes vulpes) described as Spirocerca sp. or Spirocerca lupi (Rudolphi, 1819). We characterized spirurid worms collected from red foxes and compared them to S. lupi from domestic dogs by morphometric and phylogenetic analyses. Nematodes from red foxes differed from S. lupi by the presence of six triangular teeth-like buccal capsule structures, which are absent in the latter. Additionally, in female worms from red foxes, the distance of the vulva opening to the anterior end and the ratio of the glandular-to-muscular oesophagus lengths were larger than those of S...
May 21, 2018: Parasitology
https://www.readbyqxmd.com/read/29781137/variants-in-actg2-underlie-a-substantial-number-of-australasian-patients-with-primary-chronic-intestinal-pseudo-obstruction
#13
G Ravenscroft, S Pannell, G O'Grady, R Ong, H C Ee, F Faiz, L Marns, H Goel, P Kumarasinghe, E Sollis, P Sivadorai, M Wilson, A Magoffin, S Nightingale, M-L Freckmann, E P Kirk, R Sachdev, D A Lemberg, M B Delatycki, M A Kamm, C Basnayake, P J Lamont, D J Amor, K Jones, J Schilperoort, M R Davis, N G Laing
BACKGROUND: Primary chronic intestinal pseudo-obstruction (CIPO) is a rare, potentially life-threatening disorder characterized by severely impaired gastrointestinal motility. The objective of this study was to examine the contribution of ACTG2, LMOD1, MYH11, and MYLK mutations in an Australasian cohort of patients with a diagnosis of primary CIPO associated with visceral myopathy. METHODS: Pediatric and adult patients with primary CIPO and suspected visceral myopathy were recruited from across Australia and New Zealand...
May 21, 2018: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29781053/expression-of-nox-family-genes-and-their-clinical-significance-in-colorectal-cancer
#14
Sang Yeon Cho, Ju Seok Kim, Hyuk Soo Eun, Sun Hyung Kang, Eaum Seok Lee, Seok Hyun Kim, Jae Kyu Sung, Byung Seok Lee, Hyun Yong Jeong, Hee Seok Moon
BACKGROUND: The NADPH oxidase (NOX) family is overexpressed in many cancers and is associated with cancer cell proliferation and metastasis; however, little is known about the role of the NOX family in colorectal cancer (CRC). AIMS: To identify the expression of the NOX family in CRC and to investigate the relationship between the expression of NOXs with the prognosis of the patients. METHODS: In the TCGA data portal, mRNA expression data were obtained from 41 normal samples and 458 CRC samples to analyze mRNA expression and gene alteration...
May 21, 2018: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29780795/a-novel-de-novo-mutation-in-the-cd40-ligand-gene-in-a-patient-with-a-mild-x-linked-hyper-igm-phenotype-initially-diagnosed-as-cvid-new-aspects-of-old-diseases
#15
Tábata T França, Luiz F B Leite, Tiago A Maximo, Christiane G Lambert, Nuria B Zurro, Wilma C N Forte, Antonio Condino-Neto
Mutations in the CD40 ligand (CD40L) gene ( CD40LG ) lead to X-linked hyper-IgM syndrome (X-HIGM), which is a primary immunodeficiency (PID) characterized by decreased serum levels of IgG and IgA and normal or elevated IgM levels. Although most X-HIGM patients become symptomatic during the first or second year of life, during which they exhibit recurrent infections, some patients exhibit mild phenotypes, which are usually associated with hypomorphic mutations that do not abrogate protein expression or function...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29780443/separase-inhibitor-sepin-1-inhibits-foxm1-expression-and-breast-cancer-cell-growth
#16
Nenggang Zhang, Debananda Pati
Sepin-1, a potent non-competitive inhibitor of separase, inhibits cancer cell growth, but the mechanisms of Sepin-1-mediated growth inhibition are not fully understood. Here we report that Sepin-1 hinders growth of breast cancer cells, cell migration, and wound healing. Inhibition of cell growth induced by Sepin-1 in vitro doesn't appear to be through apoptosis but rather due to growth inhibition. Following Sepin-1 treatment caspases 3 and 7 are not activated and Poly (ADP-ribose) polymerase (Parp) is not cleaved...
2018: Journal of Cancer Science & Therapy
https://www.readbyqxmd.com/read/29780401/molecular-characterization-of-squamosa-promoter-binding-protein-like-spl-gene-family-in-betula-luminifera
#17
Xiu-Yun Li, Er-Pei Lin, Hua-Hong Huang, Ming-Yue Niu, Zai-Kang Tong, Jun-Hong Zhang
As a major family of plant-specific transcription factors, SQUAMOSA PROMOTER BINDING PROTEIN-LIKE ( SPL ) genes play vital regulatory roles in plant growth, development and stress responses. In this study, 18 SPL genes were identified and cloned from Betula luminifera . Two zinc finger-like structures and a nuclear location signal (NLS) segments were existed in the SBP domains of all BlSPLs. Phylogenetic analysis showed that these genes were clustered into nine groups (group I-IX). The intron/exon structure and motif composition were highly conserved within the same group...
2018: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29780371/comparative-metatranscriptomics-of-wheat-rhizosphere-microbiomes-in-disease-suppressive-and-non-suppressive-soils-for-rhizoctonia-solani-ag8
#18
Helen L Hayden, Keith W Savin, Jenny Wadeson, Vadakattu V S R Gupta, Pauline M Mele
The soilborne fungus Rhizoctonia solani anastomosis group (AG) 8 is a major pathogen of grain crops resulting in substantial production losses. In the absence of resistant cultivars of wheat or barley, a sustainable and enduring method for disease control may lie in the enhancement of biological disease suppression. Evidence of effective biological control of R. solani AG8 through disease suppression has been well documented at our study site in Avon, South Australia. A comparative metatranscriptomic approach was applied to assess the taxonomic and functional characteristics of the rhizosphere microbiome of wheat plants grown in adjacent fields which are suppressive and non-suppressive to the plant pathogen R...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29780362/characterization-and-genomic-study-of-phage-vb_ecos-b2-infecting-multidrug-resistant-escherichia-coli
#19
Yue Xu, Xinyan Yu, Yu Gu, Xu Huang, Genyan Liu, Xiaoqiu Liu
The potential of bacteriophage as an alternative antibacterial agent has been reconsidered for control of pathogenic bacteria due to the widespread occurrence of multi-drug resistance bacteria. More and more lytic phages have been isolated recently. In the present study, we isolated a lytic phage named vB_EcoS-B2 from waste water. VB_EcoS-B2 has an icosahedral symmetry head and a long tail without a contractile sheath, indicating that it belongs to the family Siphoviridae . The complete genome of vB_EcoS-B2 is composed of a circular double stranded DNA of 44,283 bp in length, with 54...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29780132/a-japanese-case-of-cadasil-with-a-rare-mutation-in-exon-24-of-the-notch3-gene
#20
Yuka Ebihara, Hitoshi Mochizuki, Nobuyuki Ishii, Ikuko Mizuta, Kazutaka Shiomi, Toshiki Mizuno, Masamitsu Nakazato
A 50-year-old man with a family history of stroke and depression slowly developed brain lesions. Magnetic resonance imaging revealed hyperintense lesions in the diffuse white matter, external capsules, and temporal poles on T2-weighted imaging. A heterozygous mutation c.3879C>G in exon 24 of the NOTCH3 gene (p.Cys1293Trp) was detected, confirming a diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Exon 24 mutations are rather rare and this represents the first Japanese case of CADASIL...
May 18, 2018: Internal Medicine
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