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https://www.readbyqxmd.com/read/28622305/the-thrombopoietin-mpl-axis-is-activated-in-the-gata1-low-mouse-model-of-myelofibrosis-and-is-associated-with-a-defective-rps14-signature
#1
M Zingariello, L Sancillo, F Martelli, F Ciaffoni, M Marra, L Varricchio, R A Rana, C Zhao, J D Crispino, A R Migliaccio
Myelofibrosis (MF) is characterized by hyperactivation of thrombopoietin (TPO) signaling, which induces a RPS14 deficiency that de-regulates GATA1 in megakaryocytes by hampering its mRNA translation. As mice carrying the hypomorphic Gata1(low) mutation, which reduces the levels of Gata1 mRNA in megakaryocytes, develop MF, we investigated whether the TPO axis is hyperactive in this model. Gata1(low) mice contained two times more Tpo mRNA in liver and TPO in plasma than wild-type littermates. Furthermore, Gata1(low) LSKs expressed levels of Mpl mRNA (five times greater than normal) and protein (two times lower than normal) similar to those expressed by LSKs from TPO-treated wild-type mice...
June 16, 2017: Blood Cancer Journal
https://www.readbyqxmd.com/read/28587961/expression-and-comparative-characterization-of-complete-and-c-terminally-truncated-forms-of-saccharifying-%C3%AE-amylase-from-lactobacillus-plantarum-s21
#2
Apinun Kanpiengjai, Thu-Ha Nguyen, Dietmar Haltrich, Chartchai Khanongnuch
Lactobacillus plantarum S21 α-amylase possesses 475 amino acids at the C-terminal region identified as the starch-binding domain (SBD) and has been previously reported to play a role in raw starch degradation. To understand the specific roles of this SBD, cloning and expression of the complete (AmyL9) and C-terminally truncated (AmyL9ΔSBD) forms of α-amylase were conducted for enzyme purification and comparative characterization. AmyL9 and AmyL9ΔSBD were overproduced in Escherichia coli at approximately 10- and 20-times increased values of volumetric productivity when compared to α-amylase produced by the wild type, respectively...
June 3, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28559515/in-silico-structure-based-drug-screening-of-novel-antimycobacterial-pharmacophores-by-dock-gold-tandem-screening
#3
Junichi Taira, Takashi Ito, Hitomi Nakatani, Tomohiro Umei, Hiroki Baba, Shotaro Kawashima, Taira Maruoka, Hideyuki Komatsu, Hiroshi Sakamoto, Shunsuke Aoki
BACKGROUND: Enzymes responsible for cell wall development in Mycobacterium tuberculosis are considered as potential targets of anti-tuberculosis (TB) agents. Mycobacterial cyclopropane mycolic acid synthase 1 (CmaA1) is essential for mycobacterial survival because of its critical role in synthesizing mycolic acids. MATERIALS AND METHODS: We screened compounds that were capable of interacting with the mycobacterial CmaA1 active site using a virtual compound library with an in silico structure-based drug screening (SBDS)...
April 2017: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28509441/the-greek-registry-of-shwachman-diamond-syndrome-molecular-and-clinical-data
#4
Polyxeni Delaporta, Christalena Sofocleous, Marina Economou, Alexandros Makis, Stavroula Kostaridou, Antonis Kattamis
This study presents the clinical phenotype and molecular analysis findings from 11 patients recorded in the Greek Shwachman-Diamond syndrome (SDS) Registry. The most severely affected patient in our registry was diagnosed at birth and is the first patient reported to require bone marrow transplantation so early in life. Severe psoriasis, a feature not previously reported in SDS, was observed in one patient. Mutations in the Shwachman-Bodian-Diamond syndrome gene (SBDS) were found in all patients. Cytogenetic analyses revealed clonal abnormalities, one novel, in two patients...
May 16, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28341220/national-academy-of-medicine-social-and-behavioral-measures-associations-with-self-reported-health
#5
Aric A Prather, Laura M Gottlieb, Nunzia B Giuse, Taneya Y Koonce, Sheila V Kusnoor, William W Stead, Nancy E Adler
INTRODUCTION: Social and behavioral factors play important roles in physical and mental health; however, they are not routinely assessed in the healthcare system. A brief panel of measures of social and behavioral determinants of health (SBDs) were recommended in a National Academy of Medicine report for use in electronic health records. Initial testing of the panel established feasibility of use and robustness of the measures. This study evaluates their convergent and divergent validity in relation to self-reported physical and mental health and social desirability bias...
March 21, 2017: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28338038/school-based-dental-sealant-programmes-may-be-effective-in-caries-prevention
#6
Tarek Himida, Ucheka Promise
DesignSplit-mouth randomised controlled clinical trial.InterventionSchool-based dental sealant (SBDS) programme. The study population that was selected from 67-year-old pupils of 16 elementary schools in areas of low socioeconomic status within Nice, France. Children with first permanent molar pairs sufficiently erupted for sealing with no caries (ICDAS [International Caries Detection and Assessment System] 0) or initial enamel lesions (ICDAS 1-2) were included. Children were randomised to either the intervention group (light polymerised resin-based sealant with fluoride) or the control group (no treatment)...
March 2017: Evidence-based Dentistry
https://www.readbyqxmd.com/read/28331068/mutations-in-efl1-an-sbds-partner-are-associated-with-infantile-pancytopenia-exocrine-pancreatic-insufficiency-and-skeletal-anomalies-in-a-shwachman-diamond-like-syndrome
#7
Polina Stepensky, Montserrat Chacón-Flores, Katherine H Kim, Omar Abuzaitoun, Arnulfo Bautista-Santos, Natalia Simanovsky, Dritan Siliqi, Davide Altamura, Alfonso Méndez-Godoy, Abril Gijsbers, Adeeb Naser Eddin, Talia Dor, Joel Charrow, Nuria Sánchez-Puig, Orly Elpeleg
BACKGROUND: For the final step of the maturation of the ribosome, the nascent 40S and 60S subunits are exported from the nucleus to the cell cytoplasm. To prevent premature association of these ribosomal subunits, eukaryotic initiation factor 6 (eIF6) binds the 60S subunit within the nucleus. Its release in the cytoplasm requires the interaction of EFL1 and SDBS proteins. In Shwachman-Diamond syndrome (SDS), a defective SDBS protein prevents eIF6 eviction, inhibiting its recycle to the nucleus and subsequent formation of the active 80S ribosome...
March 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28212192/genetic-control-of-erythropoiesis
#8
Laxminath Tumburu, Swee Lay Thein
PURPOSE OF REVIEW: The discovery of several genetic variants associated with erythroid traits and subsequent elucidation of their functional mechanisms are exemplars of the power of the new genetic and genomic technology. The present review highlights findings from recent genetic studies related to the control of erythropoiesis and dyserythropoiesis, and fetal hemoglobin, an erythroid-related trait. RECENT FINDINGS: Identification of the genetic modulators of erythropoiesis involved two approaches: genome-wide association studies (GWASs) using single nucleotide polymorphism (SNP) arrays that revealed the common genetic variants associated with erythroid phenotypes (hemoglobin, red cell count, MCV, MCH) and fetal hemoglobin; and massive parallel sequencing such as whole genome sequencing (WGS) and whole exome sequencing (WES) that led to the discovery of the rarer variants (GFI1B, SBDS, RPS19, PKLR, EPO, EPOR, KLF1, GATA1)...
May 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28177873/prognostic-mutations-in-myelodysplastic-syndrome-after-stem-cell-transplantation
#9
R Coleman Lindsley, Wael Saber, Brenton G Mar, Robert Redd, Tao Wang, Michael D Haagenson, Peter V Grauman, Zhen-Huan Hu, Stephen R Spellman, Stephanie J Lee, Michael R Verneris, Katharine Hsu, Katharina Fleischhauer, Corey Cutler, Joseph H Antin, Donna Neuberg, Benjamin L Ebert
BACKGROUND: Genetic mutations drive the pathogenesis of the myelodysplastic syndrome (MDS) and are closely associated with clinical phenotype. Therefore, genetic mutations may predict clinical outcomes after allogeneic hematopoietic stem-cell transplantation. METHODS: We performed targeted mutational analysis on samples obtained before transplantation from 1514 patients with MDS who were enrolled in the Center for International Blood and Marrow Transplant Research Repository between 2005 and 2014...
February 9, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28140637/radiographic-assessment-of-the-cardiac-silhouette-in-clinically-normal-large-and-small-breed-dogs
#10
Ayman A Mostafa, Clifford R Berry
OBJECTIVE To determine manubrium heart scores (MHSs) from measurements of cardiac short-axis length (cSAL) and long-axis length (cLAL) relative to the corresponding manubrium length (ML) on thoracic radiographic views of dogs and assess correlation of MHSs with vertebral heart scores (VHSs). ANIMALS 120 clinically normal large-breed dogs (LBDs) and small-breed dogs (SBDs). PROCEDURES On right lateral views (RLVs) and ventrodorsal views (VDVs) for each dog, cSAL and cLAL were measured and expressed as a ratio; the cSAL:ML ratio (short-MHS), cLAL:ML ratio (long-MHS), and cSAL-and-cLAL:ML ratio (overall-MHS) were also calculated...
February 2017: American Journal of Veterinary Research
https://www.readbyqxmd.com/read/28137444/preliminary-results-of-the-induced-membrane-in-upper-limb-about-6-cases
#11
N M Anoumou, M Traoré, M Kouamé, A Yepié, G Varango
The aim of this study was to describe the preliminary results after reconstruction of segmental bone defects (SBDs) in the upper limb of six patients. This retrospective study included three men and three women with an average age of 35years (range 18-62years), who had four primary and two secondary SBDs. The average length of the SBD was 4.5 cm (2-10cm). According to the SOFCOT classification, type I (1 case), type II (4 cases) and type III (1 case) defects were identified. The reconstruction involved the humerus in two cases and the forearm bones in four cases...
February 2017: Hand Surgery and Rehabilitation
https://www.readbyqxmd.com/read/28056084/sbds-deficient-cells-have-an-altered-homeostatic-equilibrium-due-to-translational-inefficiency-which-explains-their-reduced-fitness-and-provides-a-logical-framework-for-intervention
#12
Piera Calamita, Annarita Miluzio, Arianna Russo, Elisa Pesce, Sara Ricciardi, Farhat Khanim, Cristina Cheroni, Roberta Alfieri, Marilena Mancino, Chiara Gorrini, Grazisa Rossetti, Ivana Peluso, Massimiliano Pagani, Diego L Medina, Johanna Rommens, Stefano Biffo
Ribosomopathies are a family of inherited disorders caused by mutations in genes necessary for ribosomal function. Shwachman-Diamond Bodian Syndrome (SDS) is an autosomal recessive disease caused, in most patients, by mutations of the SBDS gene. SBDS is a protein required for the maturation of 60S ribosomes. SDS patients present exocrine pancreatic insufficiency, neutropenia, chronic infections, and skeletal abnormalities. Later in life, patients are prone to myelodisplastic syndrome and acute myeloid leukemia (AML)...
January 2017: PLoS Genetics
https://www.readbyqxmd.com/read/27902421/domain-evolution-in-enzymes-of-the-neopullulanase-subfamily
#13
Andrea Kuchtová, Štefan Janeček
Among the glycoside hydrolases (GHs) classified within the Carbohydrate-Active enZyme (CAZy) database, the α-amylase family GH13 containing ~30 different enzyme specificities and more than 37 000 sequences represents one of the largest GH families. Earlier, based on a characteristic sequence motif in their fifth conserved sequence region, the two closely related subfamilies, the so-called oligo-1,6-glucosidase and neopullulanase subfamilies, were described. Currently, the two subfamilies cover several CAZy-defined GH13 subfamilies because the α-amylase family GH13 has officially been divided into 41 subfamilies...
December 2016: Microbiology
https://www.readbyqxmd.com/read/27805607/fluorescence-anisotropy-as-a-tool-to-study-protein-protein-interactions
#14
Abril Gijsbers, Takuya Nishigaki, Nuria Sánchez-Puig
Protein-protein interactions play an essential role in the function of a living organism. Once an interaction has been identified and validated it is necessary to characterize it at the structural and mechanistic level. Several biochemical and biophysical methods exist for such purpose. Among them, fluorescence anisotropy is a powerful technique particularly used when the fluorescence intensity of a fluorophore-labeled protein remains constant upon protein-protein interaction. In this technique, a fluorophore-labeled protein is excited with vertically polarized light of an appropriate wavelength that selectively excites a subset of the fluorophores according to their relative orientation with the incoming beam...
October 21, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/27776223/the-substrate-binding-domains-of-human-siah-e3-ubiquitin-ligases-are-now-crystal-clear
#15
Qi Zhang, Zhongduo Wang, Feng Hou, Rachel Harding, Xinyi Huang, Aiping Dong, John R Walker, Yufeng Tong
BACKGROUND: Seven in absentia homologs (SIAHs) comprise a family of highly conserved E3 ubiquitin ligases that play an important role in regulating signalling pathways in tumorigenesis, including the DNA damage repair and hypoxia response pathways. SIAH1 and SIAH2 have been found to function as a tumour repressor and a proto-oncogene, respectively, despite the high sequence identity of their substrate binding domains (SBDs). Ubiquitin-specific protease USP19 is a deubiquitinase that forms a complex with SIAHs and counteracts the ligase function...
January 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27759639/double-balloon-enteroscopy-in-small-bowel-diseases-eight-years-single-center-experience-in-china
#16
Wen-Guo Chen, Guo-Dong Shan, Hong Zhang, Ming Yang, Lin L, Min Yue, Guang-Wu Chen, Qing Gu, Hua-Tuo Zhu, Guo-Qiang Xu, Li-Hua Chen
The aim of the study was to evaluate the diagnostic and therapeutic value of double-balloon entoroscopy (DBE) in small bowel diseases (SBDs) in China.A retrospective review of 674 consecutive patients who underwent DBE between January 2007 and November 2015 was conducted. Patients were divided into 3 groups by age, young group (<45 years), middle-aged group (45-65 years), and elderly group (>65 years). Data were collected with regard to demographics, clinical, endoscopic findings, complications, diagnostic yield, and management...
October 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27659121/institute-of-medicine-measures-of-social-and-behavioral-determinants-of-health-a-feasibility-study
#17
Nunzia B Giuse, Taneya Y Koonce, Sheila V Kusnoor, Aric A Prather, Laura M Gottlieb, Li-Ching Huang, Sharon E Phillips, Yu Shyr, Nancy E Adler, William W Stead
INTRODUCTION: Social and behavioral factors are known to affect health but are not routinely assessed in medical practice. To date, no studies have assessed a parsimonious panel of measures of social and behavioral determinants of health (SBDs). This study evaluated the panel of SBD measures recommended by the Institute of Medicine and examined the effect of question order. METHODS: Adults, aged ≥18 years, were recruited using ResearchMatch.org for this randomized, parallel design study conducted in 2015 (data analyzed in 2015-2016)...
February 2017: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/27658964/new-insights-into-the-shwachman-diamond-syndrome-related-haematological-disorder-hyper-activation-of-mtor-and-stat3-in-leukocytes
#18
Valentino Bezzerri, Antonio Vella, Elisa Calcaterra, Alessia Finotti, Jessica Gasparello, Roberto Gambari, Baroukh Maurice Assael, Marco Cipolli, Claudio Sorio
Shwachman-Diamond syndrome (SDS) is an inherited disease caused by mutations of a gene encoding for SBDS protein. So far little is known about SBDS exact function. SDS patients present several hematological disorders, including neutropenia and myelodysplastic syndrome (MDS), with increased risk of leukemic evolution. So far, the molecular mechanisms that underlie neutropenia, MDS and AML in SDS patients have been poorly investigated. STAT3 is a key regulator of several cellular processes including survival, differentiation and malignant transformation...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27553422/parental-origin-of-the-deletion-del-20q-in-shwachman-diamond-patients-and-loss-of-the-paternally-derived-allele-of-the-imprinted-l3mbtl1-gene
#19
Lucia Nacci, Roberto Valli, Rita Maria Pinto, Marco Zecca, Marco Cipolli, Jacopo Morini, Simone Cesaro, Emanuela Boveri, Vittorio Rosti, Paola Corti, Maura Ambroni, Francesco Pasquali, Cesare Danesino, Emanuela Maserati, Antonella Minelli
Shwachman-Diamond syndrome (SDS) (OMIM 260400) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, skeletal, and hematological abnormalities and bone marrow (BM) dysfunction. Mutations in the SBDS gene cause SDS. Clonal chromosome anomalies are often present in BM, i(7)(q10) and del(20q) being the most frequent ones. We collected 6 SDS cases with del(20q): a cluster of imprinted genes, including L3MBTL1 and SGK2 is present in the deleted region. Only the paternal allele is expressed for these genes...
January 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/27349618/effectiveness-of-school-based-dental-sealant-programs-among-children-from-low-income-backgrounds-a-pragmatic-randomized-clinical-trial-with-a-follow-up-of-3-years
#20
Michèle Muller-Bolla, Audrey Pierre, Laurence Lupi-Pégurier, Ana M Velly
AIM: A split-mouth randomized clinical trial was carried out to assess the effectiveness of a school-based dental sealant (SBDS) program for French children from low-income backgrounds within 3 years of follow-up. The secondary objectives were to determine the risk factors for the occurrence of new carious lesions (ICDAS 3-6) on first permanent molars, to evaluate the effectiveness of the program according to risk factors and to assess sealant retention. METHODS: The study included 276 6- to 7-year old pupils (457 pairs of first permanent molars) from Nice...
October 2016: Community Dentistry and Oral Epidemiology
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