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https://www.readbyqxmd.com/read/28647735/uniparental-disomy-of-chromosome-15-in-two-cases-by-chromosome-microarray-a-lesson-worth-thinking
#1
Shu Liu, Kaihui Zhang, Fengling Song, Yali Yang, Yuqiang Lv, Min Gao, Yi Liu, Zhongtao Gai
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders caused by loss of function of the imprinted genes at 15q11q13. A 5-7 Mb paternal/maternal deletion of chromosomal region 15q11.2q13 is the major genetic cause of PWS/AS, but in a small group of patients, the PWS/AS phenotype can result from maternal/paternal uniparental disomy (UPD) of chromosome 15. Various mechanisms leading to UPD include gametic complementation, trisomy rescue, and compensatory UPD, which can be inferred from the pattern of uniparental heterodisomy (heteroUPD) or uniparental isodisomy (isoUPD)...
June 24, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28640239/temple-syndrome-comprehensive-molecular-and-clinical-findings-in-32-japanese-patients
#2
Masayo Kagami, Keisuke Nagasaki, Rika Kosaki, Reiko Horikawa, Yasuhiro Naiki, Shinji Saitoh, Toshihiro Tajima, Tohru Yorifuji, Chikahiko Numakura, Seiji Mizuno, Akie Nakamura, Keiko Matsubara, Maki Fukami, Tsutomu Ogata
PurposeTemple syndrome (TS14) is a rare imprinting disorder caused by aberrations at the 14q32.2 imprinted region. Here, we report comprehensive molecular and clinical findings in 32 Japanese patients with TS14.MethodsWe performed molecular studies for TS14 in 356 patients with variable phenotypes, and clinical studies in all TS14 patients, including 13 previously reported.ResultsWe identified 19 new patients with TS14, and the total of 32 patients was made up of 23 patients with maternal uniparental disomy (UPD(14)mat), six patients with epimutations, and three patients with microdeletions...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28624953/genome-wide-analysis-of-differential-dna-methylation-in-silver-russell-syndrome
#3
Di Wu, Chunxiu Gong, Chang Su
Silver-Russell Syndrome (SRS) is clinically heterogeneous disorder characterized by low birth weight, postnatal growth restriction, and variable dysmorphic features. Current evidence strongly implicates imprinted genes as an important etiology of SRS. Although almost half of the patients showed DNA hypomethylation at the H19/IGF2 imprinted domain, and approximately 7%-10% of SRS patients have maternal uniparental disomy of chromosome 7 (UPD (7) mat); the rest of the SRS patients shows unknown etiology. In this study, we investigate whether there are further DNA methylation defects in SRS patients...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28620746/uniparental-disomy-as-an-unexpected-cause-of-meckel-gruber-syndrome-report-of-a-case
#4
Nadia Ortiz Bruechle, Peter Steuernagel, Klaus Zerres, Ingo Kurth, Thomas Eggermann, Cordula Knopp
BACKGROUND: Meckel-Gruber syndrome (MKS, OMIM #607361) is a rare pre- or perinatal lethal autosomal recessive ciliopathy caused by mutations in at least 12 known genes. It has a clinical and genetic overlap with other viable ciliopathies, especially Joubert syndrome and Joubert syndrome-related disorders. MKS is characterized by multicystic kidney dysplasia, central nervous system malformations (usually occipital encephalocele), ductal plate malformation of the liver, and postaxial polydactyly...
June 15, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28611321/salivary-interleukin-6-a-pioneering-marker-for-correlating-diabetes-and-chronic-periodontitis-a-comparative-study
#5
Anitha Balaji, S C Chandrasekaran, D Subramanium, A B Fernz
BACKGROUND: Periodontitis is a chronic inflammatory disease which is multifactorial. Diabetes mellitus (DM) is one of the major systemic factors to influence the severity of chronic periodontitis. Numerous inflammatory markers are produced in the course of the disease which is secreted in saliva too. This study evaluates the salivary concentrations of interleukin-6 (IL-6) in periodontitis patients with type 2 diabetes. MATERIALS AND METHODS: Whole saliva samples were collected from eighty patients who were further divided into four groups; healthy (control group; n = 20), untreated periodontitis (UPD; n = 20), DM (DM; n = 20), and UPD + DM (n = 20 groups)...
March 2017: Indian Journal of Dental Research: Official Publication of Indian Society for Dental Research
https://www.readbyqxmd.com/read/28602932/postzygotic-telomere-capture-causes-segmental-upd-duplication-and-deletion-of-chromosome-8p-in-a-patient-with-intellectual-disability-and-obesity
#6
Jeroen Knijnenburg, Madiek E W Uytdewilligen, Daniella A C M van Hassel, Rianne Oostenbrink, Bert H J Eussen, Annelies de Klein, Alice S Brooks, Laura J C M van Zutven
Using SNP array and FISH analysis, a patient with moderate intellectual disability and obesity was found to harbour an atypical 1.6 Mb inverted duplication on 8p23.1, directly flanked by a distally located interstitial deletion of 2.3 Mb and a terminal segmental uniparental disomy. The duplicated and deleted regions lie exactly between the two segmental duplication regions. These segmental duplications on chromosome 8p23.1 are known to be involved in chromosomal rearrangements because of mutual homology and homology to other genomic regions...
June 8, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28594454/precise-control-of-the-lateral-and-vertical-growth-of-two-dimensional-ag-nanoplates
#7
Taixing Tan, Lili Yao, Huiling Liu, Chengyu Li, Cheng Wang
Tuning localized surface plasmon resonance (LSPR) is crucial for practical applications of two-dimensional Ag nanoplates (AgNPs) and relies on the precise control of their lateral length or/and thickness. In the present seed-mediated synthetic methods, by taking advantage of the under potential deposition (UPD) of Cu on the (111) surfaces of AgNPs, a solely lateral growth of AgNPs was achieved when Cu(NO3)2 was employed while a vertical growth of AgNPs could be attained via introducing CuCl2 into our growth solutions...
June 8, 2017: Chemistry: a European Journal
https://www.readbyqxmd.com/read/28588434/maternal-uniparental-disomy-14-temple-syndrome-as-a-result-of-a-robertsonian-translocation
#8
Veronica Bertini, Antonella Fogli, Rossella Bruno, Alessia Azzarà, Angela Michelucci, Teresa Mattina, Silvano Bertelloni, Angelo Valetto
Maternal uniparental disomy of chromosome 14 (upd(14)mat) or Temple syndrome is an imprinting disorder associated with a relatively mild phenotype. The absence of specific congenital malformations makes this condition underdiagnosed in clinical practice. A boy with a de novo robertsonian translocation 45,XY,rob(13;14)(q10;q10) is reported; a CGH/SNP array showed a loss of heterozygosity in 14q11.2q13.1. The final diagnosis of upd(14)mat was made by microsatellite analysis, which showed a combination of heterodisomy and isodisomy for different regions of chromosome 14...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28546998/uniparental-disomy-determined-by-whole-exome-sequencing-in-a-spectrum-of-rare-motoneuron-diseases-and-ataxias
#9
Dana M Bis, Rebecca Schüle, Jennifer Reichbauer, Matthis Synofzik, Tim W Rattay, Anne Soehn, Peter de Jonghe, Ludger Schöls, Stephan Züchner
BACKGROUND: The genetic causes of many rare inherited motoneuron diseases and ataxias (MND and ATX) remain largely unresolved, especially for sporadic patients, despite tremendous advances in gene discovery. Whole exome data is often available for patients, but it is rarely evaluated for unusual inheritance patterns, such as uniparental disomy (UPD). UPD is the inheritance of two copies of a chromosomal region from one parent, which may generate homozygosity for a deleterious recessive variant from only one carrier-parent...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28534844/property-analysis-of-the-real-time-uncalibrated-phase-delay-product-generated-by-regional-reference-stations-and-its-influence-on-precise-point-positioning-ambiguity-resolution
#10
Yong Zhang, Qing Wang, Xinyuan Jiang
The real-time estimation of the wide-lane and narrow-lane Uncalibrated Phase Delay (UPD) of satellites is realized by real-time data received from regional reference station networks; The properties of the real-time UPD product and its influence on real-time precise point positioning ambiguity resolution (RTPPP-AR) are experimentally analyzed according to real-time data obtained from the regional Continuously Operating Reference Stations (CORS) network located in Tianjin, Shanghai, Hong Kong, etc. The results show that the real-time wide-lane and narrow-lane UPD products differ significantly from each other in time-domain characteristics; the wide-lane UPDs have daily stability, with a change rate of less than 0...
May 19, 2017: Sensors
https://www.readbyqxmd.com/read/28487534/operando-sxrd-study-of-the-structure-and-growth-process-of-cu2s-ultra-thin-films
#11
Andrea Giaccherini, Serena Cinotti, Annalisa Guerri, Francesco Carlà, Giordano Montegrossi, Francesco Vizza, Alessandro Lavacchi, Roberto Felici, Francesco Di Benedetto, Massimo Innocenti
Electrochemical Atomic Layer Deposition (E-ALD) technique has demonstrated to be a suitable process for growing compound semiconductors, by alternating the under-potential deposition (UPD) of the metallic element with the UPD of the non-metallic element. The cycle can be repeated several times to build up films with sub-micrometric thickness. We show that it is possible to grow, by E-ALD, Cu2S ultra-thin films on Ag(111) with high structural quality. They show a well ordered layered crystal structure made on alternating pseudohexagonal layers in lower coordination...
May 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28478949/imprinted-disorders-and-growth
#12
Éloïse Giabicani, Frédéric Brioude, Yves Le Bouc, Irène Netchine
Fetal growth is a complex process. Its restriction is associated with morbidity and long-term metabolic consequences. Imprinted genes have a critical role in mammalian fetal growth. Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two imprinting disorders with opposite fetal growth disturbance. SRS is leading to severe fetal and postnatal growth retardation with severe feeding difficulties during early childhood and long-term metabolic consequences and BWS is an overgrowth syndrome with an enhanced risk of tumors during childhood...
May 4, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28458213/decapitation-improves-the-efficiency-of-cd-phytoextraction-by-celosia-argentea-linn
#13
Jie Liu, Xuehong Zhang, Lingyun Mo, Shiyin Yao, Yixuan Wang
The effect of decapitation on enhancing plant growth and Cd accumulation in Celosia argentea Linn. was evaluated using a pot experiment. Decapitation significantly enhanced the growth of C. argentea. The numbers of branch and leaf in the decapitated plants (DP) were significantly higher than those in undecapitated plants (UDP, p < 0.05). Decapitation increased the biomass by 75%-105% for roots, 108%-152% for stems, and 80%-107% for leaves. Although the transpiration and photosynthesis rates were not significantly different between DP and UPD, decapitation significantly increased the total leaf area and total transpiration per plant (p < 0...
April 21, 2017: Chemosphere
https://www.readbyqxmd.com/read/28449579/enhanced-kinetics-of-electrochemical-hydrogen-uptake-and-release-by-palladium-powders-modified-by-electrochemical-atomic-layer-deposition
#14
David M Benson, Chu F Tsang, Joshua D Sugar, Kaushik Jagannathan, David B Robinson, Farid El Gabaly, Patrick J Cappillino, John L Stickney
Electrochemical atomic layer deposition (E-ALD) is a method for the formation of nanofilms of materials, one atomic layer at a time. It uses the galvanic exchange of a less noble metal, deposited using underpotential deposition (UPD), to produce an atomic layer of a more noble element by reduction of its ions. This process is referred to as surface limited redox replacement and can be repeated in a cycle to grow thicker deposits. It was previously performed on nanoparticles and planar substrates. In the present report, E-ALD is applied for coating a submicron-sized powder substrate, making use of a new flow cell design...
May 16, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28448384/cytoreductive-surgery-for-metastatic-gastrointestinal-stromal-tumors-treated-with-tyrosine-kinase-inhibitors-a-2-institutional-analysis
#15
Mark Fairweather, Vinod P Balachandran, George Z Li, Monica M Bertagnolli, Cristina Antonescu, William Tap, Samuel Singer, Ronald P DeMatteo, Chandrajit P Raut
OBJECTIVE: To refine treatment recommendations for patients with metastatic gastrointestinal stromal tumors (GISTs) treated with tyrosine kinase inhibitors (TKIs) and surgery. BACKGROUND: Early reports suggested that patients with metastatic GIST responding to TKIs treated with surgery may have favorable outcomes. However, identification of prognostic factors was limited by small cohorts. METHODS: Progression-free survival (PFS) and overall survival (OS) from time of surgery and from start of initial TKI was determined...
April 26, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28428536/real-time-observation-of-interfacial-ions-during-electrocrystallization
#16
Masashi Nakamura, Takahiro Banzai, Yuto Maehata, Osamu Endo, Hiroo Tajiri, Osami Sakata, Nagahiro Hoshi
Understanding the electrocrystallization mechanisms of metal cations is of importance for many industrial and scientific fields. We have determined the transitional structures during underpotential deposition (upd) of various metal cations on Au(111) electrode using time-resolved surface X-ray diffraction and step-scan IR spectroscopy. At the initial stage of upd, a characteristic intensity transient appears in the time-resolved crystal truncation rod depending on metal cations. Metal cations with relatively high coordination energies of hydration water are deposited in two steps: first, the hydrated metal cations approached the surface and are metastably located at the outer Helmholtz plane, then they are deposited via the destruction of the hydration shell...
April 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28418651/electrodeposition-of-highly-porous-pt-nanoparticles-studied-by-quantitative-3d-electron-tomography-influence-of-growth-mechanisms-and-potential-cycling-on-the-active-surface-area
#17
Jon Ustarroz, Bart Geboes, Hans Vanrompay, Kadir Sentosun, Sara Bals, Tom Breugelmans, Annick Hubin
Nanoporous Pt nanoparticles (NPs) are promising fuel cell catalysts due to their large surface area and increased electrocatalytic activity toward the oxygen reduction reaction (ORR). Herein, we report on the influence of the growth mechanisms on the surface properties of electrodeposited Pt dendritic NPs with large surface areas. The electrochemically active surface was studied by hydrogen underpotential deposition (H UPD) and compared for the first time to high-angle annular dark field scanning transmission electron microscopy (HAADF-STEM) quantitative 3D electron tomography of individual nanoparticles...
May 3, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28391680/stoichiometry-morphology-and-size-controlled-electrochemical-fabrication-of-cuxo-x-1-2-at-underpotential
#18
Cemile Kartal, Yeşim Hanedar, Tuba Öznülüer, Ümit Demir
A new one-step electrochemical approach has been developed for the morphology, size, and stoichiometry-controlled synthesis of Cu2O, CuO, and Cu2O/CuO composite structures at room temperature without using surfactants, capping agents, or any other additives. The electrochemical deposition of a Cu monolayer using underpotential deposition (UPD) and the flow rate of oxygen gas bubbled through the deposition solution used for oxidation of the Cu layer are the key parameters for controlling the stoichiometry of the CuxO (x = 1, 2) structures...
April 14, 2017: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/28264487/investigating-autism-related-symptoms-in-children-with-prader-willi-syndrome-a-case-study
#19
Jeffrey A Bennett, Sandra Hodgetts, Michelle L Mackenzie, Andrea M Haqq, Lonnie Zwaigenbaum
Prader-Willi syndrome (PWS), a rare genetic disorder caused by the lack of expression of paternal genes from chromosome 15q11-13, has been investigated for autism spectrum disorder (ASD) symptomatology in various studies. However, previous findings have been variable, and no studies investigating ASD symptomatology in PWS have exclusively studied children. We aimed to characterize social communication functioning and other ASD-related symptoms in children with PWS, and assessed agreement across measures and rates of ASD diagnosis...
February 28, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28246213/growth-control-in-the-drosophila-eye-disc-by-the-cytokine-unpaired
#20
Jannik Vollmer, Patrick Fried, Daniel Aguilar-Hidalgo, Máximo Sánchez-Aragón, Antonella Iannini, Fernando Casares, Dagmar Iber
A fundamental question in developmental biology is how organ size is controlled. We have previously shown that the area growth rate in the Drosophila eye primordium declines inversely proportionally to the increase in its area. How the observed reduction in the growth rate is achieved is unknown. Here, we explore the dilution of the cytokine Unpaired (Upd) as a possible candidate mechanism. In the developing eye, upd expression is transient, ceasing at the time when the morphogenetic furrow first emerges. We confirm experimentally that the diffusion and stability of the JAK/STAT ligand Upd are sufficient to control eye disc growth via a dilution mechanism...
March 1, 2017: Development
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