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https://www.readbyqxmd.com/read/27922284/two-iugr-foetuses-with-maternal-uniparental-disomy-of-chromosome-6-or-upd-6-mat
#1
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
#2
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
#3
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
#4
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
#5
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...
October 8, 2016: 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
#6
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
#7
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
BACKGROUND: Inherited deficiency of all vitamin K-dependent coagulant factors (VKCFD) is a rare autosomal recessive disorder caused by mutations in γ-glutamyl carboxylase (GGCX) or vitamin K-epoxide reductase (VKORC1) with great heterogeneity both in terms of clinical presentation and response to treatment. OBJECTIVE: To characterize the molecular basis of VKCFD in a Spanish family. METHODS & RESULTS: Sequencing of candidate genes, comparative genomic hybridization and massive sequencing identified a new mechanism causing VKCFD in the proband...
September 28, 2016: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/27662437/effect-of-genotype-and-previous-growth-hormone-treatment-on-adiposity-in-adults-with-prader-willi-syndrome
#8
Muriel Coupaye, Maithé Tauber, Laurence Cuisset, Virginie Laurier, Eric Bieth, Jean-Marc Lacorte, Jean-Michel Oppert, Karine Clément, Christine Poitou
CONTEXT: Adults with Prader-Willi Syndrome (PWS) have an increased proportion of subcutaneous fat mass compared to BMI-matched controls, but whether the genotype influences body composition and metabolic profile remains controversial. OBJECTIVE: To assess body composition and metabolic features in adults with PWS, according to genetic subtype. In addition, the effect of previous growth hormone (GH) treatment was assessed. Main Outcomes and Measures: Body composition (DXA) and metabolic parameters were compared in PWS adults (mean age: 25...
September 23, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27589201/paternal-uniparental-disomy-with-segmental-loss-of-heterozygosity-of-chromosome-11-are-hallmark-characteristics-of-syndromic-and-sporadic-embryonal-rhabdomyosarcoma
#9
Katherine M Robbins, Deborah L Stabley, Jennifer Holbrook, Rebecca Sahraoui, Alexa Sadreameli, Katrina Conard, Laura Baker, Karen W Gripp, Katia Sol-Church
Costello syndrome (CS) arises from a typically paternally derived germline mutation in the proto-oncogene HRAS, and is considered a rasopathy. CS results in failure-to-thrive, intellectual disabilities, short stature, coarse facial features, skeletal abnormalities, congenital heart disease, and a predisposition for cancer, most commonly embryonal rhabdomyosarcoma (ERMS). The goal of this study was to characterize CS ERMS at the molecular level and to determine how divergent it is from sporadic ERMS. We characterized eleven ERMS tumors from eight unrelated CS patients, carrying paternally derived HRAS c...
December 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27569549/dna-methylation-profiling-of-uniparental-disomy-subjects-provides-a-map-of-parental-epigenetic-bias-in-the-human-genome
#10
Ricky S Joshi, Paras Garg, Noah Zaitlen, Tuuli Lappalainen, Corey T Watson, Nidha Azam, Daniel Ho, Xin Li, Stylianos E Antonarakis, Han G Brunner, Karin Buiting, Sau Wai Cheung, Bradford Coffee, Thomas Eggermann, David Francis, Joep P Geraedts, Giorgio Gimelli, Samuel G Jacobson, Cedric Le Caignec, Nicole de Leeuw, Thomas Liehr, Deborah J Mackay, Stephen B Montgomery, Alistair T Pagnamenta, Peter Papenhausen, David O Robinson, Claudia Ruivenkamp, Charles Schwartz, Bernhard Steiner, David A Stevenson, Urvashi Surti, Thomas Wassink, Andrew J Sharp
Genomic imprinting is a mechanism in which gene expression varies depending on parental origin. Imprinting occurs through differential epigenetic marks on the two parental alleles, with most imprinted loci marked by the presence of differentially methylated regions (DMRs). To identify sites of parental epigenetic bias, here we have profiled DNA methylation patterns in a cohort of 57 individuals with uniparental disomy (UPD) for 19 different chromosomes, defining imprinted DMRs as sites where the maternal and paternal methylation levels diverge significantly from the biparental mean...
September 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27559361/maternal-uniparental-disomy-14-and-mosaic-trisomy-14-in-a-chinese-boy-with-moderate-to-severe-intellectual-disability
#11
Shujie Zhang, Haisong Qin, Jin Wang, Luping OuYang, Shiyu Luo, Chunyun Fu, Xin Fan, Jiasun Su, Rongyu Chen, Bobo Xie, Xuyun Hu, Shaoke Chen, Yiping Shen
BACKGROUND: Both maternal uniparental disomy 14 (UPD(14)mat) and mosaic trisomy 14 are rare events in live individuals. A combination of the two events in one individual is rarely encountered. Only six live-born cases have so far been reported. CASE PRESENTATION: Here we reported a case of concomitant UPD(14)mat and mosaic trisomy 14 in a 10-year-old Chinese patient. Most clinical features of our patient were consistent with those previous reported for UPD(14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal obesity, small hands and feet, short stature, and mild facial dysmorphism, but our patient showed more severe intellectual disability and no sign of precocious puberty...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27500688/maternal-uniparental-disomy-for-chromosome-6-in-a-patient-with-iugr-ambiguous-genitalia-and-persistent-mullerian-structures
#12
Joanna Lazier, Nicole Martin, James Dimitrios Stavropoulos, David Chitayat
Maternal uniparental disomy of chromosome 6 [upd(6)mat] is rare and has only been previously reported 13 times with the main associated phenotype being IUGR. We present a case of a male patient with isodisomy upd(6)mat resulting in severe IUGR and ambiguous genitalia, a phenotype not previously described in association with this chromosome finding. The patient initially presented prenatally with IUGR at 19 weeks gestation with placental dysfunction and ambiguous genitalia noted at 27 weeks. Postnatally, the patient had external genital abnormalities, the gonads were in the inguinal canal and there was a rudimentary appearing vagina and uterus...
August 8, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27472129/omnidirectional-measurements-of-angle-resolved-heat-capacity-for-complete-detection-of-superconducting-gap-structure-in-the-heavy-fermion-antiferromagnet-upd_-2-al_-3
#13
Yusei Shimizu, Shunichiro Kittaka, Toshiro Sakakibara, Yasumasa Tsutsumi, Takuya Nomoto, Hiroaki Ikeda, Kazushige Machida, Yoshiya Homma, Dai Aoki
Quasiparticle excitations in UPd_{2}Al_{3} were studied by means of heat-capacity (C) measurements under rotating magnetic fields using a high-quality single crystal. The field dependence shows C(H)∝H^{1/2}-like behavior at low temperatures for both two hexagonal crystal axes, i.e., H∥[0001] (c axis) and H∥[112[over ¯]0] (a axis), suggesting the presence of nodal quasiparticle excitations from heavy bands. At low temperatures, the polar-angle (θ) dependence of C exhibits a maximum along H∥[0001] with a twofold symmetric oscillation below 0...
July 15, 2016: Physical Review Letters
https://www.readbyqxmd.com/read/27448223/local-adjunct-effect-of-antimicrobial-photodynamic-therapy-for-the-treatment-of-chronic-periodontitis-in-type-2-diabetics-split-mouth-double-blind-randomized-controlled-clinical-trial
#14
Nídia Cristina Castro Dos Santos, Naira Maria Rebelatto Bechara Andere, Cássia Fernandes Araujo, Andrea Carvalho de Marco, Lúcio Murilo Dos Santos, Maria Aparecida Neves Jardini, Mauro Pedrine Santamaria
Diabetes has become a global epidemic. Its complications can have a significant impact on quality of life, longevity, and public health costs. The presence of diabetes might impair the prognosis of periodontal treatments due to its negative influence on wound healing. Antimicrobial photodynamic therapy (aPDT) is a local approach that can promote bacterial decontamination in periodontal pockets. The aim of this study was to investigate the local effect of adjunct aPDT to ultrasonic periodontal debridement (UPD) and compare it to UD only for the treatment of chronic periodontitis in type 2 diabetic patients...
November 2016: Lasers in Medical Science
https://www.readbyqxmd.com/read/27372391/cancer-risk-in-beckwith-wiedemann-syndrome-a-systematic-review-and-meta-analysis-outlining-a-novel-epi-genotype-specific-histotype-targeted-screening-protocol
#15
Alessandro Mussa, Cristina Molinatto, Giuseppina Baldassarre, Evelise Riberi, Silvia Russo, Lidia Larizza, Andrea Riccio, Giovanni Battista Ferrero
OBJECTIVE: To compare tumor risk in the 4 Beckwith-Wiedemann syndrome (BWS) molecular subgroups: Imprinting Control Region 1 Gain of Methylation (ICR1-GoM), Imprinting Control Region 2 Loss of Methylation (ICR2-LoM), Chromosome 11p15 Paternal Uniparental Disomy (UPD), and Cyclin-Dependent Kinase Inhibitor 1C gene (CDKN1C) mutation. STUDY DESIGN: Studies on BWS and tumor development published between 2000 and 2015 providing (epi)genotype-cancer correlations with histotype data were reviewed and meta-analysed with cancer histotypes as measured outcome and (epi)genotype as exposure...
September 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27371906/medically-unexplained-somatic-symptoms-and-bipolar-spectrum-disorders-a-systematic-review-and-meta-analysis
#16
REVIEW
Juliet Beni Edgcomb, Chi-Hong Tseng, Berit Kerner
BACKGROUND: Patients with bipolar spectrum disorders (BSD) frequently report medically unexplained somatic symptoms. However, the prevalence and the consequences for treatment and outcome are currently unknown. METHODS: To estimate the prevalence of somatic symptoms in BSD, we conducted a systematic review and meta-analysis of empirical studies published between 1980 and 2015. The odds for somatic symptoms in BSD were compared with unipolar depression (UPD) and general population or mixed psychiatric controls...
November 1, 2016: Journal of Affective Disorders
https://www.readbyqxmd.com/read/27322623/ten-novel-mutations-in-chinese-patients-with-megalencephalic-leukoencephalopathy-with-subcortical-cysts-and-a-long-term-follow-up-research
#17
Binbin Cao, Huifang Yan, Mangmang Guo, Han Xie, Ye Wu, Qiang Gu, Jiangxi Xiao, Jing Shang, Yanling Yang, Hui Xiong, Zhengping Niu, Xiru Wu, Yuwu Jiang, Jingmin Wang
OBJECTIVE: Megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM 604004) is a rare neurological deterioration disease. We aimed to clarify clinical and genetic features of Chinese MLC patients. METHODS: Clinical information and peripheral venous blood of 20 patients and their families were collected, Sanger-sequencing and Multiple Ligation-dependent Probe Amplification were performed to make genetic analysis. Splicing-site mutation was confirmed with RT-PCR...
2016: PloS One
https://www.readbyqxmd.com/read/27320797/hepatic-cytochromes-p450-structural-degrons-and-barcodes-posttranslational-modifications-and-cellular-adapters-in-the-erad-endgame
#18
Sung-Mi Kim, YongQiang Wang, Noushin Nabavi, Yi Liu, Maria Almira Correia
The endoplasmic reticulum (ER)-anchored hepatic cytochromes P450 (P450s) are enzymes that metabolize endo- and xenobiotics i.e. drugs, carcinogens, toxins, natural and chemical products. These agents modulate liver P450 content through increased synthesis or reduction via inactivation and/or proteolytic degradation, resulting in clinically significant drug-drug interactions. P450 proteolytic degradation occurs via ER-associated degradation (ERAD) involving either of two distinct routes: Ubiquitin (Ub)-dependent 26S proteasomal degradation (ERAD/UPD) or autophagic lysosomal degradation (ERAD/ALD)...
August 2016: Drug Metabolism Reviews
https://www.readbyqxmd.com/read/27316240/uniparental-disomy-of-chromosome-16-unmasks-recessive-mutations-of-fa2h-spg35-in-4-families
#19
Anne S Soehn, Tim W Rattay, Stefanie Beck-Wödl, Karin Schäferhoff, David Monk, Marion Döbler-Neumann, Konstanze Hörtnagel, Agatha Schlüter, Montserrat Ruiz, Aurora Pujol, Stephan Züchner, Olaf Riess, Rebecca Schüle, Peter Bauer, Ludger Schöls
OBJECTIVE: Identifying an intriguing mechanism for unmasking recessive hereditary spastic paraplegias. METHOD: Herein, we describe 4 novel homozygous FA2H mutations in 4 nonconsanguineous families detected by whole-exome sequencing or a targeted gene panel analysis providing high coverage of all known hereditary spastic paraplegia genes. RESULTS: Segregation analysis revealed in all cases only one parent as a heterozygous mutation carrier whereas the other parent did not carry FA2H mutations...
July 12, 2016: Neurology
https://www.readbyqxmd.com/read/27300571/paternal-uniparental-disomy-of-chromosome-14-with-hypospadias
#20
Haiming Yuan, Yingjun Xie, Qian Li, Xizi Hu, Xinwei Li, Xiaofang Sun, Weiwei Zhao
Paternal uniparental disomy 14 (patUPD14) is a distinct, clinically recognizable syndrome. Using a clinical SNP microarray, we identified patUPD14 in a boy with a normal karyotype presenting cardiomyopathy and facial anomalies, a specific configuration of the thoracic ribs ('coat hanger sign'), and hypospadias. Analyses of polymorphic microsatellites confirmed the diagnosis of patUPD14. We discuss the functions of the genes included in the rearrangement and their involvement in the pathogenesis of these disorders, especially hypospadias...
2016: Cytogenetic and Genome Research
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