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https://www.readbyqxmd.com/read/28805612/detection-of-paternal-uniparental-disomy-9-in-a-neonate-with-prenatally-detected-mosaicism-for-a-small-supernumerary-marker-chromosome-9-and-a-supernumerary-ring-chromosome-9
#1
Chih-Ping Chen, Ming Chen, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Shun-Ping Chang, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present the association of paternal uniparental disomy (UPD) 9 with mosaicism for a small supernumerary marker chromosome 9 [sSMC(9)] and a supernumerary ring chromosome 9 [r(9)]. MATERIALS AND METHODS: A 38-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar [25]/48,XY,+mar,+r(9) [4]/47,XY,+r(9) [1]/46,XY [6]. The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) of cultured amniocytes revealed a result of de novo 9p13...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28780152/functional-genomic-exploration-reveals-that-ss-riok-1-is-essential-for-the-development-and-survival-of-strongyloides-stercoralis-larvae
#2
Wang Yuan, Huan Zhou, James B Lok, Weiqiang Lei, Siyuan He, Robin B Gasser, Rui Zhou, Rui Fang, Yanqin Zhou, Junlong Zhao, Min Hu
Protein kinase RIOK-1 is a non-ribosomal factor essential for rRNA cleavage and ribosome small subunit maturation. It is encoded in all eukaryotic organisms. The RIOK-1 encoding gene of Caenorhabditis elegans (Ce-riok-1) is expressed in the neuronal and reproductive systems in larvae and adults of this free-living nematode, and it supports larval growth and development of the adult gonad. In spite of its recognised roles in model organisms such as C. elegans, little is known about the function of this molecule in parasitic nematodes...
August 3, 2017: International Journal for Parasitology
https://www.readbyqxmd.com/read/28770003/formation-of-upd-7-mat-by-trisomic-rescue-snp-array-typing-provides-new-insights-in-chromosomal-nondisjunction
#3
Sandra Chantot-Bastaraud, Svea Stratmann, Frédéric Brioude, Matthias Begemann, Miriam Elbracht, Luitgard Graul-Neumann, Madeleine Harbison, Irène Netchine, Thomas Eggermann
BACKGROUND: Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS). For upd(7)mat and trisomy 7, a significant number of mechanisms have been proposed to explain the postzygotic formation of these chromosomal compositions, but all have been based on as small number of cases. To obtain the ratio of isodisomy and heterodisomy in UPDs (hUPD, iUPD) and to determine the underlying formation mechanisms, we analysed a large cohort of upd(7)mat patients (n = 73) by SNP array typing...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28746920/assessing-the-clinical-utility-of-snp-microarray-for-prader-willi-syndrome-due-to-uniparental-disomy
#4
Stephanie L Santoro, Sayaka Hashimoto, Aimee McKinney, Theresa Mihalic Mosher, Robert Pyatt, Shalini C Reshmi, Caroline Astbury, Scott E Hickey
Maternal uniparental disomy (UPD) 15 is one of the molecular causes of Prader-Willi syndrome (PWS), a multisystem disorder which presents with neonatal hypotonia and feeding difficulty. Current diagnostic algorithms differ regarding the use of SNP microarray to detect PWS. We retrospectively examined the frequency with which SNP microarray could identify regions of homozygosity (ROH) in patients with PWS. We determined that 7/12 (58%) patients with previously confirmed PWS by methylation analysis and microsatellite-positive UPD studies had ROH (>10 Mb) by SNP microarray...
July 27, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28675902/the-diagnostic-value-of-igf-2-and-the-igf-igfbp-3-system-in-silver-russell-syndrome
#5
Gerhard Binder, Thomas Eggermann, Karin Weber, Nawfel Ferrand, Roland Schweizer
BACKGROUND/AIMS: Recently, we have described a family of 4 members presenting with intrauterine and postnatal growth failure, low IGF-2 levels, and signs of Silver-Russell syndrome (SRS) who carried a genomic IGF2 mutation. Here, we assess the value of IGF-2 in relation to SRS. METHODS: We collected data from 48 SRS children and 48 short children born small for gestational age (SGA) seen at our center. The SRS children were 4.6 ± 2.0 years of age, and the SGA children were 4...
July 4, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28668702/differential-expression-of-novel-micrornas-in-response-to-the-infection-of-a-tmv-mutant-with-an-internal-poly-a-tract-in-n-benthamiana
#6
Song Guo, Ya-Chih Hsueh, Greg Tucker-Kellogg, Sek-Man Wong
We first constructed small RNA libraries of TMV- and TMV-43A-infected N. benthamiana for high throughput sequencing. A total number of 181 novel microRNAs (miRNAs) were identified through an improved miRNAs analysis pipeline. We were able to identify consistent miRNA expression changes induced in TMV and TMV-43A-infected plants, as well as differences associated with the UPD substitution in the TMV-43A viral genome. Virally induced miRNAs are associated with distinct processes and functions of predicted mRNA targets, including relation to host target defense...
June 28, 2017: Virus Research
https://www.readbyqxmd.com/read/28647735/uniparental-disomy-of-chromosome-15-in-two-cases-by-chromosome-microarray-a-lesson-worth-thinking
#7
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)...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28640239/temple-syndrome-comprehensive-molecular-and-clinical-findings-in-32-japanese-patients
#8
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
#9
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...
July 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
#10
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
#11
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
#12
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
#13
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 method, by taking advantage of underpotential 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 by 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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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...
August 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
#20
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
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