keyword
MENU ▼
Read by QxMD icon Read
search

UPD

keyword
https://www.readbyqxmd.com/read/28264487/investigating-autism-related-symptoms-in-children-with-prader-willi-syndrome-a-case-study
#1
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
#2
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
https://www.readbyqxmd.com/read/28230753/formal-uncertainty-and-dispersion-of-single-and-double-difference-models-for-gnss-based-attitude-determination
#3
Wen Chen, Chao Yu, Danan Dong, Miaomiao Cai, Feng Zhou, Zhiren Wang, Lei Zhang, Zhengqi Zheng
With multi-antenna synchronized global navigation satellite system (GNSS) receivers, the single difference (SD) between two antennas is able to eliminate both satellite and receiver clock error, thus it becomes necessary to reconsider the equivalency problem between the SD and double difference (DD) models. In this paper, we quantitatively compared the formal uncertainties and dispersions between multiple SD models and the DD model, and also carried out static and kinematic short baseline experiments. The theoretical and experimental results show that under a non-common clock scheme the SD and DD model are equivalent...
February 20, 2017: Sensors
https://www.readbyqxmd.com/read/28199302/untimely-expression-of-gametogenic-genes-in-vegetative-cells-causes-uniparental-disomy
#4
H Diego Folco, Venkata R Chalamcharla, Tomoyasu Sugiyama, Gobi Thillainadesan, Martin Zofall, Vanivilasini Balachandran, Jothy Dhakshnamoorthy, Takeshi Mizuguchi, Shiv I S Grewal
Uniparental disomy (UPD), in which an individual contains a pair of homologous chromosomes originating from only one parent, is a frequent phenomenon that is linked to congenital disorders and various cancers. UPD is thought to result mostly from pre- or post-zygotic chromosome missegregation. However, the factors that drive UPD remain unknown. Here we use the fission yeast Schizosaccharomyces pombe as a model to investigate UPD, and show that defects in the RNA interference (RNAi) machinery or in the YTH domain-containing RNA elimination factor Mmi1 cause high levels of UPD in vegetative diploid cells...
February 15, 2017: Nature
https://www.readbyqxmd.com/read/28197627/copy-number-analysis-identifies-tumor-suppressive-lncrnas-in-human-osteosarcoma
#5
Jianjun Xie, Dechen Lin, Dhong Hyun Tony Lee, Jennifer Akunowicz, Marc Hansen, Carl Miller, Masashi Sanada, Motohiro Kato, Tadayuki Akagi, Norihiko Kawamata, Seishi Ogawa, H Phillip Koeffler
Osteosarcoma (OS) has a high degree of chromosomal instability and total copy number (CN) changes. We examined 58 human OS samples including 40 primary tumors, 11 explants, and 7 cell lines using single nucleotide polymorphism (SNP) arrays, and revealed that 70% of the samples had one or more recurrent CN-neutral loss of heterozygosity (CNN‑LOH) also known as uniparental disomy (UPD). Importantly, 17% of the samples showed prominent homozygous deletion of 3q13.31, suggesting its role in tumorigenesis. We identified and characterized two novel lncRNAs, LOC285194 and BC040587, within this genomic locus, strongly suggesting their tumor suppressor activity...
March 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28157578/chromosomal-uniparental-disomy-16-and-fetal-intrauterine-growth-restriction
#6
Xie Yingjun, Hu Zhiyang, Lin Linhua, Su Fangming, Huang Linhuan, Tan Jinfeng, Pang Qianying, Sun Xiaofang
BACKGROUND: There is a well-documented association between prenatally diagnosed chromosomal uniparental disomy and poor pregnancy outcome. METHODS AND RESULT: In this study, we identified an intrauterine growth restricted fetus carrying a maternal UPD 16 with segmental hetero- and isodisomy using the Affymetrix CytoScan HD SNP-array and the UPDtool. We also performed FISH to exclude trisomy mosaicism of chr.16. We then explored the genetic mechanisms of how imprinted genes cause clinical abnormalities...
December 23, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28124401/brca1-alterations-with-additional-defects-in-dna-damage-response-genes-may-confer-chemoresistance-to-brca-like-breast-cancers-treated-with-neoadjuvant-chemotherapy
#7
Mamoru Takada, Shigenori Nagai, Masayuki Haruta, Ryuichi P Sugino, Katsunori Tozuka, Hiroyuki Takei, Fumie Ohkubo, Kenichi Inoue, Masafumi Kurosumi, Masaru Miyazaki, Aiko Sato-Otsubo, Yusuke Sato, Seishi Ogawa, Yasuhiko Kaneko
The BRCA-like phenotype is a feature that some sporadic breast cancers share with those occurring in BRCA1 or BRCA2 mutation carriers. As tumors with the phenotype have defects in the DNA damage response pathway, which may increase sensitivity to drugs such as DNA cross-linking agents and PARP inhibitors, a method to identify this phenotype is important. The prediction of chemoresistance, which frequently develops in these tumors, is also crucial for improving therapy. We examined genomic aberrations and BRCA1 promoter methylation in tumors of 73 breast cancer (20 HR-/HER2- and 53 HR+/HER2-) patients, who received neoadjuvant chemotherapy with anthracycline, cyclophosphamide, and taxane, using SNP array CGH and quantitative PCR...
May 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28076762/a-leptin-analog-locally-produced-in-the-brain-acts-via-a-conserved-neural-circuit-to-modulate-obesity-linked-behaviors-in-drosophila
#8
Jennifer Beshel, Josh Dubnau, Yi Zhong
Leptin, a typically adipose-derived "satiety hormone," has a well-established role in weight regulation. Here we describe a functionally conserved model of genetically induced obesity in Drosophila by manipulating the fly leptin analog unpaired 1 (upd1). Unexpectedly, cell-type-specific knockdown reveals upd1 in the brain, not the adipose tissue, mediates obesity-related traits. Disrupting brain-derived upd1 in flies leads to all the hallmarks of mammalian obesity: increased attraction to food cues, increased food intake, and increased weight...
January 10, 2017: Cell Metabolism
https://www.readbyqxmd.com/read/28032876/evaluaci%C3%A3-n-de-las-evidencias-y-calidad-de-las-gu%C3%A3-as-de-pr%C3%A3-ctica-cl%C3%A3-nica-sobre-deterioro-de-la-integridad-cut%C3%A3-nea-%C3%A3%C2%BAlceras-y-heridas-cr%C3%A3-nicas
#9
J M Rumbo Prieto, M Romero Martín, D Bellido Guerrero, L Arantón Areosa, C D Raña Lama, F Palomar Llatas
Fundamento. La situación epidemiológica, sociosanitaria y económica que rodea al deterioro de la integridad cutánea supone un gran problema para el sistema sanitario. Su prevención y tratamiento crea incertidumbre y variabilidad profesional siendo prioritario contar con buenas Guías de Práctica Clínica (GPC). El objetivo fue conocer la calidad de las GPC sobre prevención y tratamiento de úlceras por presión (UPP), úlceras venosas de la pierna (UVP) y úlceras de pie diabético (UPD). Metodología...
December 30, 2016: Anales del Sistema Sanitario de Navarra
https://www.readbyqxmd.com/read/28032339/maternal-uniparental-disomy-of-chromosome-16-upd-16-mat-clinical-features-are-rather-caused-by-hidden-trisomy-16-mosaicism-than-by-upd-16-mat-itself
#10
Ruth Scheuvens, Matthias Begemann, Lukas Soellner, Dieter Meschede, Gisela Raabe-Meyer, Miriam Elbracht, Regine Schubert, Thomas Eggermann
Maternal uniparental disomy of chromosome 16 (upd(16)mat) as the result of trisomy 16 is one of the most frequently reported uniparental disomies in humans, but a consistent phenotype is not obvious. Particularly, it is difficult to discriminate between features resulting from upd(16)mat and mosaic trisomy 16. By evaluating literature data (n = 74) and three own cases we aimed to determine whether the clinical features are due to upd(16)mat or to trisomy 16 mosaicism. Whereas in single cases the clinical symptoms were caused by homozygosity of autosomal recessive mutations on chromosome 16, it turned out that clinical features in upd(16)mat are caused by (hidden) trisomy 16 mosaicism and a specific chromosome 16 associated imprinting disorder does not exist...
December 29, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27980747/mosaic-partial-pericentromeric-trisomy-8-and-maternal-uniparental-disomy-in-a-male-patient-with-autism-spectrum-disorder
#11
Dina F Ahram, Danae Stambouli, Aleksandra Syrogianni, Yasser Al-Sarraj, Spyridon Gerou, Hatem El-Shanti, Marios Kambouris
Various chromosomal anomalies including small supernumerary marker chromosome (sSMC) and Uniparental disomy (UPD) have been described in association with intellectual disability and autism spectrum disorder. Based on our reported findings, we recommend that patients with sSMC(8) be evaluated for autism spectrum disorder (ASD) for early institution of therapy. In the presence of an identifiable sSMC, exploration of UPD is also recommended to further investigate the role of chromosome 8 UPD in ASD.
December 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27977403/clinical-and-molecular-characterization-of-beckwith-wiedemann-syndrome-in-a-chinese-population
#12
Ho Ming Luk
BACKGROUND: The objective of this study was to examine the clinical and molecular features, genotype-phenotype correlation and the efficacy of different diagnostic criteria for predicting a positive molecular test in Chinese Beckwith-Wiedemann syndrome (BWS) patients. METHODS: A retrospective tertiary-wide study was performed in Hong Kong with 27 molecularly confirmed BWS patients between January 2010 and September 2015. RESULTS: It was observed that 48...
January 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27924152/molecular-characterization-of-a-rare-analphoid-supernumerary-marker-chromosome-derived-from-7q35%C3%A2-%C3%A2-%C3%A2-qter-a-case-report
#13
Bárbara Marques, Cristina Ferreira, Filomena Brito, Sónia Pedro, Cristina Alves, Teresa Lourenço, Marta Amorim, Hildeberto Correia
BACKGROUND: Analphoid supernumerary marker chromosomes (aSMC) constitute one of the smallest groups of SMC, and are characterized by a centromeric constriction but no detectable alpha-satellite DNA. These marker chromosomes cannot be properly identified by conventional banding techniques alone, and molecular cytogenetic methods are necessary for a detailed characterization. Analphoid SMC derived from chromosome 7 are extremely rare, with only five cases reported so far. CASE PRESENTATION: In this work we report an aSMC involving the terminal long arm of chromosome 7 in a 10-year-old boy with multiple dysmorphic features and severe development delay...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27922284/two-iugr-foetuses-with-maternal-uniparental-disomy-of-chromosome-6-or-upd-6-mat
#14
Wing Cheong Leung, Wai Lam Lau, T K Lo, Tze Kin Lau, Y Y Lam, Anita Kan, Kelvin Chan, Elizabeth T Lau, Mary H Tang
No abstract text is available yet for this article.
December 6, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27910023/array-based-comparative-genomic-hybridization-acgh
#15
Chengsheng Zhang, Eliza Cerveira, Mallory Romanovitch, Qihui Zhu
Copy number variations (CNVs) in the genomes have been suggested to play important roles in human evolution, genetic diversity, and disease susceptibility. A number of assays have been developed for the detection of CNVs, including fluorescent in situ hybridization (FISH), array-based comparative genomic hybridization (aCGH), PCR-based assays, and next-generation sequencing (NGS). In this chapter, we describe a microarray method that has been used for the detection of genome-wide CNVs, loss of heterozygosity (LOH), and uniparental disomy (UPD) associated with constitutional and neoplastic disorders...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27836923/single-nucleotide-polymorphism-array-snp-a-improves-the-identification-of-chromosomal-abnormalities-by-metaphase-cytogenetics-in-myelodysplastic-syndrome
#16
Fernanda Borges da Silva, João Agostinho Machado-Neto, Virginia Helena Leira Lipoli Bertini, Elvira Deolinda Rodrigues Pereira Velloso, Cristina Alonso Ratis, Rodrigo T Calado, Belinda Pinto Simões, Eduardo Magalhães Rego, Fabiola Traina
AIMS: The myelodysplastic syndromes (MDS) are a heterogeneous group of clonal haematopoietic stem cell disorders characterised by inefficient haematopoiesis and risk of progression to acute myeloid leukaemia. Metaphase cytogenetics is an extremely valuable clinical tool in the management of haematological malignancies. However, metaphase cytogenetics requires cellular proliferation, its sensitivity and resolution depends on the proportion of clonal cells in the sample and size of the lesion, respectively...
November 11, 2016: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27767174/bactrocera-dorsalis-male-sterilization-by-targeted-rna-interference-of-spermatogenesis-empowering-sterile-insect-technique-programs
#17
Yong-Cheng Dong, Zhi-Jian Wang, Zhen-Zhong Chen, Anthony R Clarke, Chang-Ying Niu
RNA interference (RNAi) is a genetic technique which has novel application for sustainable pest control. The Sterile Insect Technique (SIT) uses releases of mass-produced, sterile male insects to out-compete wild males for mates to reduce pest populations. RNAi sterilization of SIT males would have several advantages over radiation sterilization, but to achieve this appropriate target genes must first be identified and then targeted with interference technology. With this goal, eight spermatogenesis related candidate genes were cloned and tested for potential activity in Bactrocera dorsalis...
October 21, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27725226/mutant-allele-specific-imbalance-in-oncogenes-with-copy-number-alterations-occurrence-mechanisms-and-potential-clinical-implications
#18
Chih-Chieh Yu, Wanglong Qiu, Caroline S Juang, Mahesh M Mansukhani, Balazs Halmos, Gloria H Su
Mutant allele specific imbalance (MASI) was initially coined to describe copy number alterations associated with the mutant allele of an oncogene. The copy number gain (CNG) specific to the mutant allele can be readily observed in electropherograms. With the development of genome-wide analyses at base-pair resolution with copy number counts, we can now further differentiate MASI into those with CNG, with copy neutral alteration (also termed acquired uniparental disomy; UPD), or with loss of heterozygosity (LOH) due to the loss of the wild-type (WT) allele...
January 1, 2017: Cancer Letters
https://www.readbyqxmd.com/read/27717089/chromosomal-microarray-in-a-highly-consanguineous-population-diagnostic-yield-utility-of-regions-of-homozygosity-and-novel-mutations
#19
M A Alabdullatif, M A Al Dhaibani, M Y Khassawneh, A W El-Hattab
Chromosomal microarray (CMA) has significantly improved diagnosing copy number variations (CNVs). Single nucleotide polymorphism (SNP) arrays confer additional utility in detecting regions of homozygosity (ROH). Investigating ROH for genes associated with recessive disorders for follow-up sequencing can aid in diagnosis. In this study, we performed a retrospective review of clinical and molecular data for 227 individuals from a highly consanguineous population who previously had a CMA. Pathogenic CNVs were identified in 32 (14%) cases; ROH suggesting uniparental disomy (UPD) in three (1%) cases, and an additional 25 (11%) individuals were diagnosed with recessive disorders caused by mutations in ROH candidate genes, thereby increasing the CMA diagnostic yield to 26%...
September 22, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27681307/uniparental-disomy-causes-deficiencies-of-vitamin-k-dependent-proteins
#20
M A Dasi, R Gonzalez-Conejero, S Izquierdo, J Padilla, J L Garcia, N Garcia-Barberá, B Argilés, M E de la Morena-Barrio, J M Hernández-Sánchez, J M Hernández-Rivas, V Vicente, J Corral
Essentials Vitamin K-dependent coagulant factor deficiency (VKCFD) is a rare autosomal recessive disorder. We describe a case of inherited VKCFD due to uniparental disomy. The homozygous mutation caused the absence of GGCX isoform 1 and overexpression of Δ2GGCX. Hepatic and non-hepatic vitamin K-dependent proteins must be assayed to monitor VKCFD treatment. SUMMARY: Background Inherited deficiency of all vitamin K-dependent coagulant factors (VKCFD) is a rare autosomal recessive disorder caused by mutations in the γ-glutamyl carboxylase gene (GGCX) or the vitamin K epoxide reductase gene (VKORC1), with great heterogeneity in terms of both clinical presentation and response to treatment...
December 2016: Journal of Thrombosis and Haemostasis: JTH
keyword
keyword
42142
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"