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https://www.readbyqxmd.com/read/27902421/domain-evolution-in-enzymes-of-the-neopullulanase-subfamily
#1
Andrea Kuchtova, Stefan Janecek
Among the glycoside hydrolases (GHs) classified within the 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 5th conserved sequence region (CSR), 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...
November 1, 2016: Microbiology
https://www.readbyqxmd.com/read/27805607/fluorescence-anisotropy-as-a-tool-to-study-protein-protein-interactions
#2
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
#3
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
#4
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
#5
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)...
September 19, 2016: 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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/27314945/isolation-and-characterization-of-a-distinct-duck-origin-goose-parvovirus-causing-an-outbreak-of-duckling-short-beak-and-dwarfism-syndrome-in-china
#9
Shilong Chen, Shao Wang, Xiaoxia Cheng, Shifeng Xiao, Xiaoli Zhu, Fengqiang Lin, Nanyang Wu, Jinxiang Wang, Meiqing Huang, Min Zheng, Shaoying Chen, Fusong Yu
Many mule duck and Cherry Valley duck flocks in different duck-producing regions of China have shown signs of an apparently new disease designated "short beak and dwarfism syndrome" (SBDS) since 2015. The disease is characterized by dyspraxia, weight loss, a protruding tongue, and high morbidity and low mortality rates. In order to characterize the etiological agent, a virus designated SBDSV M15 was isolated from allantoic fluid of dead embryos following serial passage in duck embryos. This virus causes a cytopathic effect in duck embryo fibroblast (DEF) cells...
September 2016: Archives of Virology
https://www.readbyqxmd.com/read/27170884/design-fabrication-and-experimental-validation-of-novel-flexible-silicon-based-dry-sensors-for-electroencephalography-signal-measurements
#10
Yi-Hsin Yu, Shao-Wei Lu, Lun-De Liao, Chin-Teng Lin
Many commercially available electroencephalography (EEG) sensors, including conventional wet and dry sensors, can cause skin irritation and user discomfort owing to the foreign material. The EEG products, especially sensors, highly prioritize the comfort level during devices wear. To overcome these drawbacks for EEG sensors, this paper designs Societe Generale de Surveillance S [Formula: see text] A [Formula: see text] (SGS)-certified, silicon-based dry-contact EEG sensors (SBDSs) for EEG signal measurements...
2014: IEEE Journal of Translational Engineering in Health and Medicine
https://www.readbyqxmd.com/read/27159078/an-integrated-bioinformatics-analysis-reveals-divergent-evolutionary-pattern-of-oil-biosynthesis-in-high-and-low-oil-plants
#11
Li Zhang, Shi-Bo Wang, Qi-Gang Li, Jian Song, Yu-Qi Hao, Ling Zhou, Huan-Quan Zheng, Jim M Dunwell, Yuan-Ming Zhang
Seed oils provide a renewable source of food, biofuel and industrial raw materials that is important for humans. Although many genes and pathways for acyl-lipid metabolism have been identified, little is known about whether there is a specific mechanism for high-oil content in high-oil plants. Based on the distinct differences in seed oil content between four high-oil dicots (20~50%) and three low-oil grasses (<3%), comparative genome, transcriptome and differential expression analyses were used to investigate this mechanism...
2016: PloS One
https://www.readbyqxmd.com/read/27146429/evaluation-of-energy-metabolism-and-calcium-homeostasis-in-cells-affected-by-shwachman-diamond-syndrome
#12
Silvia Ravera, Carlo Dufour, Simone Cesaro, Roberta Bottega, Michela Faleschini, Paola Cuccarolo, Fabio Corsolini, Cesare Usai, Marta Columbaro, Marco Cipolli, Anna Savoia, Paolo Degan, Enrico Cappelli
Isomorphic mutation of the SBDS gene causes Shwachman-Diamond syndrome (SDS). SDS is a rare genetic bone marrow failure and cancer predisposition syndrome. SDS cells have ribosome biogenesis and their protein synthesis altered, which are two high-energy consuming cellular processes. The reported changes in reactive oxygen species production, endoplasmic reticulum stress response and reduced mitochondrial functionality suggest an energy production defect in SDS cells. In our work, we have demonstrated that SDS cells display a Complex IV activity impairment, which causes an oxidative phosphorylation metabolism defect, with a consequent decrease in ATP production...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27127007/shwachman-diamond-syndrome-presenting-with-early-ichthyosis-associated-dermal-and-epidermal-intracellular-lipid-droplets-hypoglycemia-and-later-distinctive-clinical-sds-phenotype
#13
Emmanuel Scalais, Anne-Catherine Connerotte, Karine Despontin, Armand Biver, Chantal Ceuterick-de Groote, Marielle Alders, Athanassios Kolivras, Jean-Pierre Hachem, Linda De Meirleir
Shwachman-Diamond syndrome (SDS) is a recessive ribosomopathy, characterized by bone marrow failure and exocrine pancreatic insufficiency (ePI) often associated with neurodevelopmental and skeletal abnormalities. The aim of this report is to describe a SDS patient with early ichthyosis associated with dermal and epidermal intracellular lipid droplets (iLDs), hypoglycemia and later a distinctive clinical SDS phenotype. At 3 months of age, she had ichthyosis, growth retardation, and failure to thrive. She had not cytopenia...
July 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27010584/identification-of-novel-oncogenic-mutations-in%C3%A2-thyroid-cancer
#14
Susan C Pitt, Roland A Hernandez, Matthew A Nehs, Atul A Gawande, Francis D Moore, Daniel T Ruan, Nancy L Cho
BACKGROUND: Thyroid cancer patients frequently have favorable outcomes. However, a small subset develops aggressive disease refractory to traditional treatments. Therefore, we sought to characterize oncogenic mutations in thyroid cancers to identify novel therapeutic targets that may benefit patients with advanced, refractory disease. STUDY DESIGN: Data on 239 thyroid cancer specimens collected between January 2009 and September 2014 were obtained from the Dana Farber/Brigham and Women's Cancer Center...
June 2016: Journal of the American College of Surgeons
https://www.readbyqxmd.com/read/26866830/novel-myopathy-in-a-newborn-with-shwachman-diamond-syndrome-and-review-of-neonatal-presentation
#15
Alexandra Topa, Mar Tulinius, Anders Oldfors, Carola Hedberg-Oldfors
Shwachman-Diamond-Bodian syndrome (SDS) is a pleiotropic disorder in which the main features are bone marrow dysfunction and pancreatic insufficiency. Skeletal changes can occur, and in rare cases manifest as severe congenital thoracic dystrophy. We report a newborn boy with asphyxia, narrow thorax, and severe hypotonia initially suggesting a neuromuscular disease. The muscle biopsy showed myopathic changes with prominent variability in muscle fiber size and abnormal expression of developmental isoforms of myosin...
May 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26850260/structural-dynamics-of-the-yeast-shwachman-diamond-syndrome-protein-sdo1-on-the-ribosome-and-its-implication-in-the-60s-subunit-maturation
#16
Chengying Ma, Kaige Yan, Dan Tan, Ningning Li, Yixiao Zhang, Yi Yuan, Zhifei Li, Meng-Qiu Dong, Jianlin Lei, Ning Gao
The human Shwachman-Diamond syndrome (SDS) is an autosomal recessive disease caused by mutations in a highly conserved ribosome assembly factor SBDS. The functional role of SBDS is to cooperate with another assembly factor, elongation factor 1-like (Efl1), to promote the release of eukaryotic initiation factor 6 (eIF6) from the late-stage cytoplasmic 60S precursors. In the present work, we characterized, both biochemically and structurally, the interaction between the 60S subunit and SBDS protein (Sdo1p) from yeast...
March 2016: Protein & Cell
https://www.readbyqxmd.com/read/26762974/shwachman-bodian-diamond-syndrome-sbds-protein-deficiency-impairs-translation-re-initiation-from-c-ebp%C3%AE-and-c-ebp%C3%AE-mrnas
#17
Kyungmin In, Mohamad A Zaini, Christine Müller, Alan J Warren, Marieke von Lindern, Cornelis F Calkhoven
Mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene cause Shwachman-Diamond Syndrome (SDS), a rare congenital disease characterized by bone marrow failure with neutropenia, exocrine pancreatic dysfunction and skeletal abnormalities. The SBDS protein is important for ribosome maturation and therefore SDS belongs to the ribosomopathies. It is unknown, however, if loss of SBDS functionality affects the translation of specific mRNAs and whether this could play a role in the development of the clinical features of SDS...
May 19, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/26743985/deletion-of-mitochondrial-porin-alleviates-stress-sensitivity-in-the-yeast-model-of-shwachman-diamond-syndrome
#18
Waruenada Kanprasoet, Laran T Jensen, Suwimon Sriprach, Kanate Thitiananpakorn, Khanti Rattanapornsompong, Amornrat Naranuntarat Jensen
Shwachman-Diamond syndrome (SDS) is a multi-system disorder characterized by bone marrow failure, pancreatic insufficiency, skeletal abnormalities, and increased risk of leukemic transformation. Most patients with SDS contain mutations in the Shwachman-Bodian-Diamond syndrome gene (SBDS), encoding a highly conserved protein that has been implicated in ribosome biogenesis. Emerging evidence also suggests a distinct role of SBDS beyond protein translation. Using the yeast model of SDS, we examined the underlying mechanisms that cause cells lacking Sdo1p, the yeast SBDS ortholog, to exhibit reduced tolerance to various stress conditions...
December 20, 2015: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/26727964/a-sequential-bioorthogonal-dual-strategy-mannal-and-sianal-as-distinct-tools-to-unravel-sialic-acid-metabolic-pathways
#19
P A Gilormini, C Lion, D Vicogne, T Levade, S Potelle, C Mariller, Y Guérardel, C Biot, F Foulquier
Recent methodological developments in metabolic oligosaccharide engineering (MOE) pave the way for tremendous advances in glycobiology. Herein, we propose a Sequential Bioorthogonal Dual Strategy (SBDS) combining the use of two unprotected alkyne-tagged monosaccharide reporters (ManNAl and SiaNAl) with the bioligation of fluorescent probes by copper-catalysed azide-alkyne cycloaddition (CuAAC). With SBDS, we are able to shed light on trafficking and cellular uptake mechanisms of sialic acid. Using their corresponding analogues, we visualized that SiaNAl enters via endocytosis, whereas its biosynthetic intermediate ManNAl uptake is mediated by a yet unknown but specific plasma membrane transporter...
February 7, 2016: Chemical Communications: Chem Comm
https://www.readbyqxmd.com/read/26691941/-retrospective-ngs-study-in-high-risk-hereditary-cancer-patients-at-masaryk-memorial-cancer-institute
#20
E Macháčková, J Hazova, E Sťahlová Hrabincová, P Vašíčková, M Navrátilová, M Svoboda, L Foretová
BACKGROUND: Currently, more than 200 hereditary cancer syndromes have been described, yet, in most countries genetic testing is restricted to a narrow spectrum of genes within a limited group of people tested. METHODS: For this retrospective study we used the TruSight cancer panel (Illumina)--NGS panel targeting 94 cancer predisposition genes in order to analyze 50 high-risk cancer patients with significant personal and family history of cancer who did not carry mutations in BRCA1, BRCA2, MLH1, MSH2, MSH6, TP53 or APC genes...
2016: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
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