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https://www.readbyqxmd.com/read/28212192/genetic-control-of-erythropoiesis
#1
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)...
February 15, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28177873/prognostic-mutations-in-myelodysplastic-syndrome-after-stem-cell-transplantation
#2
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. We evaluated the association of mutations with transplantation outcomes, including overall survival, relapse, and death without relapse...
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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