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https://www.readbyqxmd.com/read/28743124/the-role-of-discoidin-domain-receptor-1-in-inflammation-fibrosis-and-renal-disease
#1
Aude Dorison, Jean-Claude Dussaule, Christos Chatziantoniou
Discoidin domain receptors (DDRs) are a family of 2 non-integrin collagen receptors, DDR1 and DDR2, which display a tyrosine kinase activity. They are mainly expressed during embryonic development and their role during adulthood is very limited. DDR1 has been widely studied in several types of cancers, in atherosclerosis and fibrosis, but also in chronic kidney disease (CKD). This review focuses on the role of DDR1 in chronic nephropathies and on the effect of its deletion in the pathological processes involved in renal disease progression...
July 26, 2017: Nephron
https://www.readbyqxmd.com/read/28743121/a-severe-case-of-hemoglobin-h-disease-due-to-compound-heterozygosity-for-deletion-of-the-major-%C3%AE-globin-regulatory-element-mcs-r2-and-%C3%AE-0-thalassemia
#2
Lv-Yin Huang, Jin-Mei Yan, Jian-Ying Zhou, Jian Li, Xing-Mei Xie, Dong-Zhi Li
No abstract text is available yet for this article.
July 26, 2017: Acta Haematologica
https://www.readbyqxmd.com/read/28742927/a-new-model-for-netrin1-in-commissural-axon-guidance
#3
REVIEW
Daniel Morales
Now-classic experiments characterized netrin1 as a major player in commissural axon guidance in the spinal cord. The data suggest a chemotactic model in which netrin1 expression in the floor plate forms a concentration gradient that attracts commissural axons. New research published independently in Neuron and in Nature tests this model by deleting netrin1 specifically in the floor plate. Surprisingly, these conditional mutant mice have no overt commissure defects. The authors report that netrin1 decorates the pial surface of the spinal cord and hindbrain, likely deposited by radial processes of progenitor cells in the ventricular zone...
July 25, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/28742514/the-importance-of-biochemical-and-genetic-findings-in-the-diagnosis-of-atypical-norrie-disease
#4
Ana Rodríguez-Muñoz, Gema García-García, Francisco Menor, José M Millán, Miguel Tomás-Vila, Teresa Jaijo
BACKGROUND: Norrie disease (ND) is a rare X-linked disorder characterized by bilateral congenital blindness. ND is caused by a mutation in the Norrie disease pseudoglioma (NDP) gene, which encodes a 133-amino acid protein called norrin. Intragenic deletions including NDP and adjacent genes have been identified in ND patients with a more severe neurologic phenotype. We report the biochemical, molecular, clinical and radiological features of two unrelated affected males with a deletion including NDP and MAO genes...
July 25, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28742501/novel-insights-into-the-molecular-mechanisms-underlying-generalized-glucocorticoid-resistance-and-hypersensitivity-syndromes
#5
REVIEW
Nicolas C Nicolaides, Evangelia Charmandari
Glucocorticoids play a fundamental role in many physiologic functions and contribute substantially to the achievement of homeostasis. These pleiotropic glucocorticoid actions are mediated by a ubiquitously expressed transcription factor, the human glucocorticoid receptor (hGR), which may influence the transcription rate of numerous target genes, interact with other transcription factors, trigger the activation of several kinase pathways or modulate mitochondrial DNA expression. Any genetic defects in the NR3C1gene that encodes the hGR may cause Primary Generalized Glucocorticoid Resistance or Hypersensitivity Syndromes, two rare allostatic endocrinologic conditions characterized by partial impaired tissue sensitivity to glucocorticoids...
April 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28742278/agenesis-of-the-corpus-callosum-developmental-delay-autism-spectrum-disorder-facial-dysmorphism-and-posterior-polymorphous-corneal-dystrophy-associated-with-zeb1-gene-deletion
#6
Ayeshah Chaudhry, Brian H Chung, Dimitri J Stavropoulos, Marcela P Araya, Asim Ali, Elise Heon, David Chitayat
We report on a girl diagnosed prenatally with agenesis of the corpus callosum (ACC) on fetal ultrasound and MRI. On postnatal follow-up she was noted to have developmental delay, facial dysmorphism, autism spectrum disorder, and posterior polymorphous corneal dystrophy (PPD). Array-comparative genomic hybridization analysis (Array-CGH) showed a 2.05 Mb de novo interstitial deletion at 10p11.23p11.22. The deleted region overlaps 1 OMIM Morbid Map gene, ZEB1 (the zinc finger E-box binding homeobox transcription factor 1), previously associated with posterior polymorphous corneal dystrophy type 3 (PPCD3)...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28742236/xylem-nac-domain1-an-angiosperm-nac-transcription-factor-inhibits-xylem-differentiation-through-conserved-motifs-that-interact-with-retinoblastoma-related
#7
Chengsong Zhao, Theres Lasses, Laszlo Bako, Danyu Kong, Bingyu Zhao, Bidisha Chanda, Aureliano Bombarely, Alfredo Cruz-Ramírez, Ben Scheres, Amy M Brunner, Eric P Beers
The Arabidopsis thaliana gene XYLEM NAC DOMAIN1 (XND1) is upregulated in xylem tracheary elements. Yet overexpression of XND1 blocks differentiation of tracheary elements. The molecular mechanism of XND1 action was investigated. Phylogenetic and motif analyses indicated that XND1 and its homologs are present only in angiosperms and possess a highly conserved C-terminal region containing linear motifs (CKII-acidic, LXCXE, E2F(TD) -like and LXCXE-mimic) predicted to interact with the cell cycle and differentiation regulator RETINOBLASTOMA-RELATED (RBR)...
July 25, 2017: New Phytologist
https://www.readbyqxmd.com/read/28742222/disruption-of-the-atp-adenosine-balance-in-cd39-mice-is-associated-with-handling-induced-seizures
#8
Amanda J Lanser, Rafael M Rezende, Stephen Rubino, Paul J Lorello, Dustin J Donnelly, Huixin Xu, Lauren A Lau, Chris G Dulla, Barbara J Caldarone, Simon C Robson, Howard L Weiner
Seizures are due to excessive, synchronous neuronal firing in the brain and are characteristic of epilepsy, the fourth most prevalent neurologic disease. Herein, we report handling-induced and spontaneous seizures in mice deficient of CD39, a cell-surface ATPase highly expressed on microglial cells. CD39(-/-) mice with handling-induced seizures had normal input-output curves and paired-pulse ratio measured from hippocampal slices and lacked microgliosis, astrogliosis or overt cell loss in the hippocampus and cortex...
July 25, 2017: Immunology
https://www.readbyqxmd.com/read/28742147/genetic-analysis-of-the-regulation-of-the-voltage-gated-calcium-channel-homolog-cch1-by-the-%C3%AE-subunit-homolog-ecm7-and-cortical-er-protein-scs2-in-yeast
#9
Takafumi Kato, Aya Kubo, Tatsuya Nagayama, Shinichiro Kume, Chikara Tanaka, Yoshitaka Nakayama, Kazuko Iida, Hidetoshi Iida
The yeast Cch1/Mid1 Ca2+ channel is equivalent to animal voltage-gated Ca2+ channels and activated in cells incubated in low Ca2+ medium. We herein investigated the third subunit, Ecm7, under the same cell culture conditions. The deletion of ECM7 slightly lowered Ca2+ influx activity in the CNB1+ background, in which calcineurin potentially dephosphorylates Cch1, but markedly lowered this activity in the cnb1Δ background. The deletion of the C-terminal cytoplasmic region of Ecm7 also reduced Ca2+ influx activity...
2017: PloS One
https://www.readbyqxmd.com/read/28742080/emergent-remitted-and-persistent-psychosis-spectrum-symptoms-in-22q11-2-deletion-syndrome
#10
S X Tang, T M Moore, M E Calkins, J J Yi, D M McDonald-McGinn, E H Zackai, B S Emanuel, R C Gur, R E Gur
Individuals with 22q11.2 deletion syndrome (22q11DS) are at markedly elevated risk for schizophrenia-related disorders. Stability, emergence, remission and persistence of psychosis-spectrum symptoms were investigated longitudinally. Demographic, clinical and cognitive predictors of psychosis were assessed. Prospective follow-up over 2.8 years was undertaken in 75 individuals with 22q11DS aged 8-35 years. Mood, anxiety, attention-deficit hyperactivity disorders and psychosis-spectrum symptoms were assessed with the Kiddie-Schedule for Affective Disorders and Schizophrenia and Scale of Prodromal Symptoms (SOPS)...
July 25, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28742079/the-dcdc2-deletion-is-not-a-risk-factor-for-dyslexia
#11
T S Scerri, E Macpherson, A Martinelli, W C Wa, A P Monaco, J Stein, M Zheng, C Suk-Han Ho, C McBride, M Snowling, C Hulme, M E Hayiou-Thomas, M M Y Waye, J B Talcott, S Paracchini
Dyslexia is a specific impairment in learning to read and has strong heritability. An intronic deletion within the DCDC2 gene, with ~8% frequency in European populations, is increasingly used as a marker for dyslexia in neuroimaging and behavioral studies. At a mechanistic level, this deletion has been proposed to influence sensory processing capacity, and in particular sensitivity to visual coherent motion. Our re-assessment of the literature, however, did not reveal strong support for a role of this specific deletion in dyslexia...
July 25, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28742008/development-of-a-crispr-cas9-mediated-gene-editing-tool-in-streptomyces-rimosus
#12
Haiyan Jia, Longmei Zhang, Tongtong Wang, Jin Han, Hui Tang, Liping Zhang
Clustered regularly interspaced short palindromic repeats, associated proteins (CRISPR/Cas), has been developed into a powerful, targeted genome-editing tool in a wide variety of species. Here, we report an extensive investigation of the type II CRISPR/Cas9 system for targeted gene editing in Streptomyces rimosus. S. rimosus is used in the production of the antibiotic oxytetracycline, and its genome differs greatly from other species of the genus Streptomyces in the conserved chromosome terminal and core regions, which is of major production and scientific research value...
July 26, 2017: Microbiology
https://www.readbyqxmd.com/read/28741180/loss-of-nhej1-protein-due-to-a-novel-splice-site-mutation-in-a-family-presenting-with-combined-immunodeficiency-microcephaly-and-growth-retardation-and-literature-review
#13
Farrukh Sheikh, Abbas Hawwari, Safa Alhissi, Sulaiman Al Gazlan, Hasan Al Dhekri, Agha M Rehan Khaliq, Esteban Borrero, Lina El-Baik, Rand Arnaout, Hamoud Al-Mousa, Anas M Alazami
INTRODUCTION: Non-homologous end joining gene 1 (NHEJ1) defect is a rare form of primary immune deficiency. Very few cases have been described from around the world. PURPOSE: We are reporting the first family from the Arabian Gulf with three siblings presenting with combined immunodeficiency (CID), microcephaly, and growth retardation due to a novel NHEJ1 splice site mutation, in addition to a review of the previously published literature on this subject. METHODS: Patients' clinical, immunological, and laboratory features were examined...
July 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28741095/phenotype-microarray-analysis-of-the-aders-two-component-system-in-acinetobacter-baumannii
#14
J-R Sun, Y-S Chiang, H-S Shang, C-L Perng, Y-S Yang, T-S Chiueh
Acinetobacter baumannii is a nosocomial pathogen capable of resistance to multiple antimicrobials. The AdeRS two-component system (TCS) is associated with antimicrobial resistance by controlling the AdeABC efflux pump. To elucidate modulation by AdeRS, we made an A. baumannii mutant lacking the AdeRS TCS and characterized it using phenotype microarray (PM) analysis. After disrupting the adeRS operon, lower expression of AdeABC efflux pump was observed in the mutant strain. PM analysis showed that the AdeRS deletion strain and parental strain presented different tolerances to 91 compounds...
July 24, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28740748/a-highly-pathogenic-porcine-reproductive-and-respiratory-syndrome-virus-candidate-vaccine-based-on-japanese-encephalitis-virus-replicon-system
#15
Pingsheng Hu, Xiaoming Chen, Lihong Huang, Shukai Liu, Fuyu Zang, Jinchao Xing, Youyue Zhang, Jiaqi Liang, Guihong Zhang, Ming Liao, Wenbao Qi
In the swine industry, porcine reproductive and respiratory syndrome (PRRS) is a highly contagious disease which causes heavy economic losses worldwide. Effective prevention and disease control is an important issue. In this study, we described the construction of a Japanese encephalitis virus (JEV) DNA-based replicon with a cytomegalovirus (CMV) promoter based on the genome of Japanese encephalitis live vaccine virus SA14-14-2, which is capable of offering a potentially novel way to develop and produce vaccines against a major pathogen of global health...
2017: PeerJ
https://www.readbyqxmd.com/read/28740731/comparing-new-generation-candidate-vaccines-against-human-orthopoxvirus-infections
#16
R A Maksyutov, S N Yakubitskyi, I V Kolosova, S N Shchelkunov
The lack of immunity to the variola virus in the population, increasingly more frequent cases of human orthopoxvirus infection, and increased risk of the use of the variola virus (VARV) as a bioterrorism agent call for the development of modern, safe vaccines against orthopoxvirus infections. We previously developed a polyvalent DNA vaccine based on five VARV antigens and an attenuated variant of the vaccinia virus (VACV) with targeted deletion of six genes (VACΔ6). Independent experiments demonstrated that triple immunization with a DNA vaccine and double immunization with VACΔ6 provide protection to mice against a lethal dose (10 LD50) of the ectromelia virus (ECTV), which is highly pathogenic for mice...
April 2017: Acta Naturae
https://www.readbyqxmd.com/read/28740729/role-of-the-inserted-%C3%AE-helical-domain-in-e-coli-atp-dependent-lon-protease-function
#17
A M Kudzhaev, A G Andrianova, E S Dubovtseva, O V Serova, T V Rotanova
Multidomain ATP-dependent Lon protease of E. coli (Ec-Lon) is one of the key enzymes of the quality control system of the cellular proteome. A recombinant form of Ec-Lon with deletion of the inserted characteristic α-helical HI(CC) domain (Lon-dHI(CC)) has been prepared and investigated to understand the role of this domain. A comparative study of the ATPase, proteolytic, and peptidase activities of the intact Lon protease and Lon-dHI(CC) has been carried out. The ability of the enzymes to undergo autolysis and their ability to bind DNA have been studied as well...
April 2017: Acta Naturae
https://www.readbyqxmd.com/read/28739805/functional-insights-into-the-mode-of-dna-and-ligand-binding-of-the-tetr-family-regulator-tylp-from-streptomyces-fradiae
#18
Shamayeeta Ray, Anwesha Maitra, Anwesha Biswas, Santosh Panjikar, Jagannath Mondal, Ruchi Anand
Tetracycline Repressors (TetRs) modulate multi-drug efflux pathways in several pathogenic bacteria. In Streptomyces, they additionally regulate secondary metabolic pathways like antibiotic production. For instance, in the antibiotic producer Streptomyces fradiae, a layered network of TetRs regulate the levels of commercially important antibiotic tylosin, with TylP occupying the top of this cascading network. TetRs exist in two functional states; the DNA-bound and the ligand-bound form, which are allosterically regulated...
July 24, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28739804/role-of-the-disulfide-bond-in-stabilizing-and-folding-of-the-fimbrial-protein-drae-from-uropathogenic-escherichia-coli
#19
Justyna Pilipczuk, Beata Zalewska-Piątek, Piotr Bruździak, Jacek Czub, Milosz Wieczór, Marcin Olszewski, Marta Wanarska, Bogdan Nowicki, Danuta Augustin-Nowacka, Rafal Piątek
Dr fimbriae are homopolymeric adhesive organelles of uropathogenic Escherichia coli composed of DraE subunits, responsible for the attachment to host cells. These structures are characterized by enormously high stability resulting from the structural properties of an Ig-like fold of DraE. One feature of DraE and other fimbrial subunits that makes them peculiar among Ig-like domain-containing proteins is a conserved disulfide bond that joins their A and B strands. Here, we investigated how this disulfide bond affects the stability and folding/unfolding pathway of DraE...
July 24, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28739799/lgr5-receptor-promotes-cell-cell-adhesion-in-stem-cells-and-colon-cancer-cells-via-the-iqgap1-rac1-pathway
#20
Kendra S Carmon, Xing Gong, Jing Yi, Ling Wu, Anthony Thomas, Catherine M Moore, Ikuo Masuho, David J Timson, Kirill A Martemyanov, Qingyun J Liu
Leucine rich repeat containing G protein coupled receptor 5 (LGR5) is a bona fide marker of adult stem cells in several epithelial tissues, most notably in the intestinal crypts and is highly upregulated in many colorectal, hepatocellular, and ovarian cancers. LGR5 activation by R-spondin (RSPO) ligands potentiates Wnt/β-catenin signaling in vitro, yet deletion of LGR5 in stem cells has little or no effect on Wnt/β-catenin signaling or cell proliferation in vivo. Remarkably, modulation of LGR5 expression has a major impact on the actin cytoskeletal structure and cell adhesion in the absence of RSPO stimulation, but the molecular mechanism is unclear...
July 24, 2017: Journal of Biological Chemistry
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