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https://www.readbyqxmd.com/read/29776967/multicentre-study-of-maternal-and-neonatal-outcomes-in-individuals-with-prader-willi-syndrome
#1
Preeti Singh, Ranim Mahmoud, June-Anne Gold, Jennifer L Miller, Elizabeth Roof, Roy Tamura, Elisabeth Dykens, Merlin G Butler, Dan J Driscoll, Virginia Kimonis
INTRODUCTION: Prader-Willi syndrome (PWS) is a complex genetic disorder associated with three different genetic subtypes: deletion of the paternal copy of 15q11-q13, maternal UPD for chromosome 15 and imprinting defect. Patients are typically diagnosed because of neonatal hypotonia, dysmorphism and feeding difficulties; however, data on the prenatal features of PWS are limited. OBJECTIVE: The aim of the study was to identify and compare frequencies of prenatal and neonatal clinical features of PWS among the three genetic subtypes...
May 18, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29760337/adsorption-behavior-of-tbps-in-the-process-of-cu-electrodeposition-on-an-au-film
#2
Liang-Huei Chen, Yung-Fang Liu, Klaus Krug, Yuh-Lang Lee
The adsorption behavior of an Cu electroplating additive, 3,3 thiobis-(1-propanesulfonic acid sodium salt) (TBPS) in a process of Cu deposition onto a single crystalline Au(111) surface is studied by an in-situ Surface-Enhanced Infrared Absorption Spectroscopy (SEIRAS). The SEIRAS spectra of the TBPS adlayer on a Cu film is investigated first and compared to that on an Au film. These results are utilized to evaluate the characteristics of TBPS adlayer on the electrode surface during the Cu deposition and stripping processes...
May 15, 2018: Journal of Oleo Science
https://www.readbyqxmd.com/read/29752677/insight-into-the-mechanisms-and-consequences-of-recurrent-telomere-capture-associated-with-a-sub-telomeric-deletion
#3
Alexsandro Dos Santos, Francine Campagnari, Ana Cristina Victorino Krepischi, Maria de Lourdes Ribeiro Câmara, Rita de Cássia E de Arruda Brasil, Ligia Vieira, Angela M Vianna-Morgante, Paulo A Otto, Peter L Pearson, Carla Rosenberg
A complex mosaicism of the short arm of chromosome 1 detected by SNP microarray analysis is described in a patient presenting a 4-Mb 1p36 terminal deletion and associated phenotypic features. The array pattern of chromosome 1p displayed an intriguing increase in divergence of the SNP heterozygote frequency from the expected 50% from the centromere towards the 1p36 breakpoint. This suggests that various overlapping segments of UPD were derived by somatic recombination between the 1p homologues. The most likely explanation was the occurrence of a series of events initiated in either a gamete or an early embryonic cell division involving a 1pter deletion rapidly followed by multiple telomere captures, resulting in additive, stepped increases in frequency of homozygosity towards the telomere...
May 12, 2018: Chromosome Research
https://www.readbyqxmd.com/read/29681103/comparison-of-perinatal-factors-in-deletion-versus-uniparental-disomy-in-prader-willi-syndrome
#4
June-Anne Gold, Ranim Mahmoud, Suzanne B Cassidy, Virginia Kimonis
Prader-Willi syndrome (PWS) is caused by a deficiency of imprinted genes in the 15q11-q13 region and is characterized by prenatal onset of hypotonia, poor feeding, childhood-onset obesity, hyperphagia, short stature, facial dysmorphism, intellectual disability, and behavioral problems. We studied perinatal factors in a cohort of 64 people with PWS resulting from paternal deletion of 15q11-q13 and maternal uniparental disomy (UPD) for chromosome 15. We recruited 34 individuals with deletion and 30 with UPD. We compared the frequency of multiple prenatal and neonatal factors with the general population as well as between the two genetic subtypes...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29578412/cytokine-receptor-eb1-interaction-couples-cell-polarity-and-fate-during-asymmetric-cell-division
#5
Cuie Chen, Ryan Cummings, Aghapi Mordovanakis, Alan J Hunt, Michael Mayer, David Sept, Yukiko M Yamashita
Asymmetric stem cell division is a critical mechanism for balancing self-renewal and differentiation. Adult stem cells often orient their mitotic spindle to place one daughter inside the niche and the other outside of it to achieve asymmetric division. It remains unknown whether and how the niche may direct division orientation. Here we discover a novel and evolutionary conserved mechanism that couples cell polarity to cell fate. We show that the cytokine receptor homolog Dome, acting downstream of the niche-derived ligand Upd, directly binds to the microtubule-binding protein Eb1 to regulate spindle orientation in Drosophila male germline stem cells (GSCs)...
March 26, 2018: ELife
https://www.readbyqxmd.com/read/29569732/unusual-twinning-additional-findings-during-prenatal-diagnosis-of-twin-zygosity-by-single-nucleotide-polymorphism-snp-array
#6
Zhiyong Zou, Linhuan Huang, Shaobin Lin, Zhiming He, Yanmin Luo
OBJECTIVE: To evaluate the incidence and characteristics of unusual twinning by using single nucleotide polymorphism (SNP) array to identify twin zygosity. METHODS: This study reviewed 386 twin pairs who were seen for prenatal or postnatal diagnosis and underwent SNP array to detect zygosity. RESULTS: The incidence of monozygotic (MZ) twins was 11.36% (25/220) in the assisted reproductive technology (ART)-conceived group. Monochorionic dizygotic twins represented 3 of 24 monochorionic ART-conceived twin pairs (3/24, 12...
March 23, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29566378/adrenal-insufficiency-sex-reversal-and-angelman-syndrome-due-to-uniparental-disomy-unmasking-a-mutation-in-cyp11a1
#7
Ahlee Kim, Masanobu Fujimoto, Vivian Hwa, Philippe Backeljauw, Andrew Dauber
BACKGROUND/AIMS: Cholesterol side-chain cleavage enzyme (P450scc) deficiency is a rare genetic disorder causing primary adrenal insufficiency with or without a 46,XY disorder of sexual development (DSD). Herein, we report a case of the combination of primary adrenal insufficiency, a DSD (testes with female external genitalia in a setting of a 47,XXY karyotype), and Angelman syndrome. METHODS: Comprehensive genetic analyses were performed, including a single nucleotide polymorphism microarray and whole-exome sequencing...
2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29565418/patterns-of-homozygosity-in-patients-with-uniparental-disomy-detection-rate-and-suggested-reporting-thresholds-for-snp-microarrays
#8
Nicole Hoppman, Kandelaria Rumilla, Emily Lauer, Hutton Kearney, Erik Thorland
PurposeSingle-nucleotide polymorphism (SNP) microarrays can easily identify whole-chromosome isodisomy but are unable to detect whole-chromosome heterodisomy. However, most cases of uniparental disomy (UPD) involve combinations of heterodisomy and isodisomy, visualized on SNP microarrays as long continuous stretches of homozygosity (LCSH). LCSH raise suspicion for, but are not diagnostic of, UPD, and reporting necessitates confirmatory testing. The goal of this study was to define optimal LCSH reporting standards...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29522654/deciphering-the-surface-composition-and-the-internal-structure-of-alloyed-silver-gold-nanoparticles
#9
Viktoria Grasmik, Christian Rurainsky, Kateryna Loza, Mathies V Evers, Oleg Prymak, Marc Heggen, Kristina Tschulik, Matthias Epple
Spherical bimetallic AgAu nanoparticles in the molar ratios 30:70, 50:50, and 70:30 with a diameter of 30 to 40 nm were analyzed together with pure silver and gold nanoparticles of the same size. Dynamic light scattering (DLS) and differential centrifugal sedimentation (DCS) were used for size determination. Cyclic voltammetry (CV) was used to determine the nanoalloy composition, together with atomic absorption spectroscopy (AAS), energy-dispersive X-ray spectroscopy (EDX) and Ultraviolet-visible (UV/vis) spectroscopy...
March 9, 2018: Chemistry: a European Journal
https://www.readbyqxmd.com/read/29501926/energy-based-culture-medium-design-for-biomanufacturing-optimization-a-case-study-in-monoclonal-antibody-production-by-gs-ns0-cells
#10
Ana L Quiroga-Campano, Nicki Panoskaltsis, Athanasios Mantalaris
Demand for high-value biologics, a rapidly growing pipeline, and pressure from competition, time-to-market and regulators, necessitate novel biomanufacturing approaches, including Quality by Design (QbD) principles and Process Analytical Technologies (PAT), to facilitate accelerated, efficient and effective process development platforms that ensure consistent product quality and reduced lot-to-lot variability. Herein, QbD and PAT principles were incorporated within an innovative in vitro-in silico integrated framework for upstream process development (UPD)...
March 2, 2018: Metabolic Engineering
https://www.readbyqxmd.com/read/29455159/a-case-of-paternal-uniparental-isodisomy-for-chromosome-7-associated-with-overgrowth
#11
Akie Nakamura, Koji Muroya, Hiroko Ogata-Kawata, Kazuhiko Nakabayashi, Keiko Matsubara, Tsutomu Ogata, Kenji Kurosawa, Maki Fukami, Masayo Kagami
BACKGROUND: Paternal uniparental disomy for chromosome 7 (upd(7)pat) is extremely rare, and only four cases have been previously reported. As these cases were accompanied by autosomal-recessive disorders which are likely to be involved in growth restriction, the relevance of upd(7)pat to the overgrowth phenotype remains unclear. Here we describe one case of upd(7)pat with no additional genetic diseases, which may answer the question. METHODS: A 5-year-old Japanese boy presented with a tall stature of unknown causes...
February 17, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29375845/mosaic-upd-14-pat-in-a-patient-with-mild-features-of-kagami-ogata-syndrome
#12
Marte G Haug, Atle Brendehaug, Gunnar Houge, Masayo Kagami, Tsutomu Ogata
We report a Norwegian girl with mild clinical features of Kagami-Ogata syndrome (KOS) and mosaic upd(14)pat. To our knowledge, this is the first report describing a mosaic patient with KOS. These results imply that mosaic uniparental disomy should be examined in patients with mild features of imprinted disorders.
January 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29372681/ctbp-impedes-jnk-and-upd-stat-driven-cell-fate-misspecifications-in-regenerating-drosophila-imaginal-discs
#13
Melanie I Worley, Larissa A Alexander, Iswar K Hariharan
Regeneration following tissue damage often necessitates a mechanism for cellular re-programming, so that surviving cells can give rise to all cell types originally found in the damaged tissue. This process, if unchecked, can also generate cell types that are inappropriate for a given location. We conducted a screen for genes that negatively regulate the frequency of notum-to-wing transformations following genetic ablation and regeneration of the wing pouch, from which we identified mutations in the transcriptional co-repressor C-terminal Binding Protein (CtBP)...
January 26, 2018: ELife
https://www.readbyqxmd.com/read/29360068/-variation-analysis-of-the-number-of-copies-and-methylene-patterns-in-region-15q11-q13
#14
Sergio Laurito, María Roqué
Human chromosome 15q11-q13 region is prone to suffer genetic alterations. Some genes of this region have a differential monoallelic imprinting-regulated expression pattern. Defects in imprinting regulation (IE), uniparental disomy (UPD) or copy number variation (CNV) due to chromosomal breakpoints (BP) in 15q11-q13 region, are associated with several diseases. The most frequent are Prader-Willi syndrome, Angelman syndrome and 15q11-q13 microduplication syndrome. In this work, we analyzed DNA samples from 181 patients with phenotypes which were compatible with the above-mentioned diseases, using Methyl specific-multiplex ligation-dependent probe amplification (MS-MLPA)...
2018: Medicina
https://www.readbyqxmd.com/read/29311684/a-severely-short-statured-girl-with-47-xx-14-46-xx-upd-14-mat-mosaicism
#15
Kikumi Ushijima, Syuichi Yatsuga, Takako Matsumoto, Akie Nakamura, Maki Fukami, Masayo Kagami
The predominant symptoms of trisomy 14 mosaicism are prenatal and postnatal growth failure, ear abnormalities, congenital heart disease, developmental delay, and genitourinary abnormalities. Maternal uniparental disomy of chromosome 14 (upd(14)mat) presents discernible clinical features such as prenatal and postnatal growth failure, hypotonia, precocious puberty, and obesity. Given the small number of previously reported patients with a combination of trisomy 14 mosaicism and upd(14)mat, the detailed clinical features of these patients remain to be elucidated...
March 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29217318/ghrh-plus-arginine-and-arginine-administration-evokes-the-same-ratio-of-gh-isoforms-levels-in-young-patients-with-prader-willi-syndrome
#16
Antonello E Rigamonti, Antonino Crinò, Sarah Bocchini, Alessio Convertino, Martin Bidlingmaier, Michael Haenelt, Sofia Tamini, Silvano G Cella, Graziano Grugni, Alessandro Sartorio
Human GH is present in pituitary and circulation as several isoforms, the prevalent being 22kDa- and 20kDa-GH. Recently, we have demonstrated the preservation of a normal balance in GH isoforms after GH releasing hormone (GHRH) plus arginine (ARG) administration in adult patients with Prader-Willi syndrome (PWS), one of the most common causes of syndromic obesity, often associated with GH deficiency (GHD). Aim of the present study was to measure circulating levels of 22kDa- and 20kDa-GH in young PWS patients (n=24; F/M: 10/14; genotype UPD/DEL/met+: 11/11/2; age: 10...
November 27, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29190888/genomic-profiles-of-a-hepatoblastoma-from-a-patient-with-beckwith-wiedemann-syndrome-with-uniparental-disomy-on-chromosome-11p15-and-germline-mutation-of-apc-and-palb2
#17
Shinn Young Kim, Seung-Hyun Jung, Min Sung Kim, Mi-Ryung Han, Hyeon-Chun Park, Eun Sun Jung, Sung Hak Lee, Sug Hyung Lee, Yeun-Jun Chung
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder mainly associated with altered genomic imprinting at chromosome 11p15.5. Children with BWS, especially uniparental disomy (UPD) at 11p15.5, are at increased risk of embryonal tumors including hepatoblastoma. Although genetic alterations of sporadic hepatoblastomas have been identified, integrated germline and somatic alterations of BWS-related hepatoblastoma have not been reported. For this, we performed whole-exome sequencing and genome-wide loss of heterozygosity/copy number analyses using a single nucleotide polymorphism (SNP) array for a hepatoblastoma in a BWS infant with paternal UPD at chromosome 11p15...
November 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/29178649/the-maternal-uniparental-disomy-of-chromosome-6-upd-6-mat-phenotype-result-of-placental-trisomy-6-mosaicism
#18
Thomas Eggermann, Barbara Oehl-Jaschkowitz, Severin Dicks, Wolfgang Thomas, Deniz Kanber, Beate Albrecht, Matthias Begemann, Ingo Kurth, Jasmin Beygo, Karin Buiting
BACKGROUND: Maternal uniparental disomy of chromosome 6 (upd(6)mat) is a rare finding and its clinical relevance is currently unclear. Based on clinical data from two new cases and patients from the literature, the pathogenetic significance of upd(6)mat is delineated. METHODS: Own cases were molecularly characterized for isodisomic uniparental regions on chromosome 6. For further cases with upd(6)mat, a literature search was conducted and genetic and clinical data were ascertained...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29160035/mosaic-uniparental-disomy-results-in-gm1-gangliosidosis-with-normal-enzyme-assay
#19
Kenneth A Myers, Mark F Bennett, Chung W Chow, Susan M Carden, Simone A Mandelstam, Melanie Bahlo, Ingrid E Scheffer
Inherited metabolic disorders are traditionally diagnosed using broad and expensive panels of screening tests, often including invasive skin and muscle biopsy. Proponents of next-generation genetic sequencing have argued that replacing these screening panels with whole exome sequencing (WES) would save money. Here, we present a complex patient in whom WES allowed diagnosis of GM1 gangliosidosis, caused by homozygous GLB1 mutations, resulting in β-galactosidase deficiency. A 10-year-old girl had progressive neurologic deterioration, macular cherry-red spot, and cornea verticillata...
January 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29146936/hypomethylation-of-hoxa4-promoter-is-common-in-silver-russell-syndrome-and-growth-restriction-and-associates-with-stature-in-healthy-children
#20
Mari Muurinen, Katariina Hannula-Jouppi, Lovisa E Reinius, Cilla Söderhäll, Simon Kebede Merid, Anna Bergström, Erik Melén, Göran Pershagen, Marita Lipsanen-Nyman, Dario Greco, Juha Kere
Silver-Russell syndrome (SRS) is a growth retardation syndrome in which loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy for chromosome 7 [UPD(7)mat] explain 20-60% and 10% of the syndrome, respectively. To search for a molecular cause for the remaining SRS cases, and to find a possible common epigenetic change, we studied DNA methylation pattern of more than 450 000 CpG sites in 44 SRS patients. Common to all three SRS subgroups, we found a hypomethylated region at the promoter region of HOXA4 in 55% of the patients...
November 16, 2017: Scientific Reports
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