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https://www.readbyqxmd.com/read/28782500/unapparent-hypoxanthine-guanine-phosphoribosyltransferase-deficiency
#1
R J Torres, S Puente, A Menendez, N Fernandez-Garcia
Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity causes Lesch Nyhan disease (LND), characterized by hyperuricemia, severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit and self-injurious behavior. Partial HPRT deficiency is present in patients with Lesch-Nyhan variant (LNV), who present with HPRT-related gout and a variable degree of neurological involvement. The diagnosis of HPRT deficiency relies on clinical, biochemical, enzymatic and molecular data...
August 3, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28761164/identification-of-reference-genes-for-qrt-pcr-in-granulosa-cells-of-healthy-women-and-polycystic-ovarian-syndrome-patients
#2
Yue Lv, Shi Gang Zhao, Gang Lu, Chi Kwan Leung, Zhi Qiang Xiong, Xian Wei Su, Jin Long Ma, Wai Yee Chan, Hong Bin Liu
Comparative gene expression analysis by qRT-PCR is commonly used to detect differentially expressed genes in studies of PCOS pathology. Impaired GC function is strongly associated with PCOS pathogenesis, and a growing body of studies has been dedicated to identifying differentially expressed genes in GCs in PCOS patients and healthy women by qRT-PCR. It is necessary to validate the expression stability of the selected reference genes across the tested samples for target gene expression normalization. We examined the variability and stability of expression of the 15 commonly used reference genes in GCs from 44 PCOS patients and 45 healthy women using the GeNorm, BestKeeper, and NormFinder statistical algorithms...
July 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28732075/comprehensive-selection-of-reference-genes-for-quantitative-rt-pcr-analysis-of-murine-extramedullary-hematopoiesis-during-development
#3
Giuliana Medrano, Peihong Guan, Amanda J Barlow-Anacker, Ankush Gosain
The purpose of this study was to perform a comprehensive evaluation and selection of reference genes for the study of extramedullary hematopoiesis during development and the early post-natal period. A total of six candidate reference genes (ACTB, GAPDH, HPRT1, PPID, TBP, TUBB3) in four organs (heart, liver, spleen, and thymus) over five perinatal time points (Embryonic days 14.5, 16.5, 18.5, Post-natal days 0, 21) were evaluated by quantitative real-time PCR. The expression stability of the candidate reference genes were analyzed using geNorm, NormFinder, Bestkeeper, Delta CT method, and RefFinder software packages...
2017: PloS One
https://www.readbyqxmd.com/read/28712454/crispr-cas9-mediated-scanning-for-regulatory-elements-required-for-hprt1-expression-via-thousands-of-large-programmed-genomic-deletions
#4
Molly Gasperini, Gregory M Findlay, Aaron McKenna, Jennifer H Milbank, Choli Lee, Melissa D Zhang, Darren A Cusanovich, Jay Shendure
The extent to which non-coding mutations contribute to Mendelian disease is a major unknown in human genetics. Relatedly, the vast majority of candidate regulatory elements have yet to be functionally validated. Here, we describe a CRISPR-based system that uses pairs of guide RNAs (gRNAs) to program thousands of kilobase-scale deletions that deeply scan across a targeted region in a tiling fashion ("ScanDel"). We applied ScanDel to HPRT1, the housekeeping gene underlying Lesch-Nyhan syndrome, an X-linked recessive disorder...
August 3, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28671969/reference-gene-selection-for-the-shell-gland-of-laying-hens-in-response-to-time-points-of-eggshell-formation-and-nicarbazin
#5
Sami Samiullah, Juliet Roberts, Shu-Biao Wu
Ten reference genes were investigated for normalization of gene expression data in the shell gland of laying hens. Analyses performed with geNorm revealed that hypoxanthine phosphoribosyltransferase 1 (HPRT1) and hydroxymethylbilane synthase (HMBS) were the two most stable reference genes in response to post-oviposition time alone (POT) or with nicarbazin treatment (POT+N) of laying hens. NormFinder analyses showed that the two most stable reference genes in response to POT and POT+N were 18S ribosomal RNA (18S rRNA), ribosomal protein L4 (RPL4) and HMBS, RPL4, respectively...
2017: PloS One
https://www.readbyqxmd.com/read/28524722/lesch-nyhan-disease-in-two-families-from-chilo%C3%A3-island-with-mutations-in-the-hprt1-gene
#6
Khue Vu Nguyen, Sebastian Silva, Monica Troncoso, Robert K Naviaux, William L Nyhan
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report two independent point mutations leading to splicing errors: IVS 2 +1G>A, c.134 +1G>A, and IVS 3 +1G>A, c.318 +1G>A in the hypoxanthine-phosphoribosyltransferase1 (HPRT1) gene which result in exclusion of exon 2 and exon 3 respectively, in the HGprt enzyme protein from different members of two Chiloé Island families...
May 19, 2017: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/28454689/identification-of-appropriate-reference-genes-for-qpcr-analyses-of-placental-expression-of-slc7a3-and-induction-of-slc5a1-in-porcine-endometrium
#7
Chelsie B Steinhauser, Theodore T Wing, Haijun Gao, Xilong Li, Robert C Burghardt, Guoyao Wu, Fuller W Bazer, Greg A Johnson
INTRODUCTION: Endometria and placentae undergo developmental changes that affect the stability of genes used as references for normalization of qPCR data. We identified genes that are stable within the porcine endometrium and placenta throughout pregnancy, and elucidated the temporal/spatial mRNA localization of the glucose and arginine transporters, solute carrier family (SLC) 5A1 and SLC7A3, respectively. MATERIALS AND METHODS: qPCR was performed for 10 genes within porcine endometria from Days 5, 11, and 15 of the estrous cycle and 11, 15, 25, 40, 60, and 85 of pregnancy; and chorioallantois from Days 30, 35, 45, 50, 60, and 85...
April 2017: Placenta
https://www.readbyqxmd.com/read/28407308/methods-of-rna-preparation-affect-mrna-abundance-quantification-of-reference-genes-in-pig-maturing-oocytes
#8
Y-K Wang, X Li, Z-Q Song, C-X Yang
To ensure accurate normalization and quantification of target RNA transcripts using reverse transcription quantitative polymerase chain reaction (RT-qPCR), most studies focus on the identification of stably expressed gene(s) as internal reference. However, RNA preparation methods could also be an important factor, especially for test samples of limited quantity (e.g. oocytes). In this study, we aimed to select appropriate reference gene(s), and evaluate the effect of RNA preparation methods on gene expression quantification in porcine oocytes and cumulus cells during in vitro maturation...
April 13, 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/28357186/lesch-nyhan-syndrome-the-saga-of-metabolic-abnormalities-and-self-injurious-behavior
#9
Nitesh Tewari, Vijay Prakash Mathur, Divesh Sardana, Kalpana Bansal
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder of purine metabolism caused by a mutation in Xq26.2-q26.3 (OMIM 308000.0004). The presence of the diagnostic triad, i.e. signs of self-injurious behavior (SIB) and results of pedigree analysis and novel molecular biology & genetic testing, confirms the diagnosis of LNS. With a level of hypoxanthine guanine phosphoribosyl-transferase 1 (HPRT1) enzyme activity < 2%, patients develop neurological, neurocognitive, and neuromotor symptoms along with SIB...
February 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28328930/validation-of-qpcr-reference-genes-in-lymphocytes-from-patients-with-amyotrophic-lateral-sclerosis
#10
Ewa Usarek, Anna Barańczyk-Kuźma, Beata Kaźmierczak, Beata Gajewska, Magdalena Kuźma-Kozakiewicz
Quantitative polymerase chain reaction (qPCR) is the most specific and reliable method for determination of mRNA gene expression. Crucial point for its accurate normalization is the choice of appropriate internal control genes (ICGs). In the present work we determined and compare the expression of eight commonly used ICGs in lymphocytes from 26 patients with amyotrophic lateral sclerosis (ALS) and 30 control subjects. Peripheral blood mononuclear cells (PBMCs) before and after immortalization by EBV transfection (lymphoblast cell lines-LCLs) were used for qPCR analysis...
2017: PloS One
https://www.readbyqxmd.com/read/28281264/resonance-energy-transfer-based-nucleic-acid-hybridization-assays-on-paper-based-platforms-using-emissive-nanoparticles-as-donors
#11
Samer Doughan, M Omair Noor, Yi Han, Ulrich J Krull
Quantum dots (QDs) and upconverting nanoparticles (UCNPs) are luminescent nanoparticles (NPs) commonly used in bioassays and biosensors as resonance energy transfer (RET) donors. The narrow and tunable emissions of both QDs and UCNPs make them versatile RET donors that can be paired with a wide range of acceptors. Ratiometric signal processing that compares donor and acceptor emission in RET-based transduction offers improved precision, as it accounts for fluctuations in the absolute photoluminescence (PL) intensities of the donor and acceptor that can result from experimental and instrumental variations...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28257939/cold-exposure-induces-the-acquisition-of-brown-adipocyte-gene-expression-profiles-in-cattle-inguinal-fat-normalized-with-a-new-set-of-reference-genes-for-qrt-pcr
#12
K X Cao, D Hao, J Wang, W W Peng, Y J Yan, H X Cao, F Sun, H Chen
The last few years have seen great advances in our understanding of browning in white adipose tissue (WAT) where white adipocytes take on characteristics of brown adipocytes. At present, the economic significance of browning for animal husbandry is beginning to be realized with the emerging evidence that browning affects body weight not only in human and rodent but in farm animals. Quantitative RT-PCR provides a quick and sensitive way to preliminary determine browning of WAT. However, there have been no established condition specific reference genes for browning of cattle WAT...
February 24, 2017: Research in Veterinary Science
https://www.readbyqxmd.com/read/28212397/a-targeted-gene-expression-platform-allows-for-rapid-analysis-of-chemical-induced-antioxidant-mrna-expression-in-zebrafish-larvae
#13
Margaret G Mills, Evan P Gallagher
Chemical-induced oxidative stress and the biochemical pathways that protect against oxidative damage are of particular interest in the field of toxicology. To rapidly identify oxidative stress-responsive gene expression changes in zebrafish, we developed a targeted panel of antioxidant genes using the Affymetrix QuantiGene Plex (QGP) platform. The genes contained in our panel include eight putative Nrf2 (Nfe2l2a)-dependent antioxidant genes (hmox1a, gstp1, gclc, nqo1, prdx1, gpx1a, sod1, sod2), a stress response gene (hsp70), an inducible DNA damage repair gene (gadd45bb), and three reference genes (actb1, gapdh, hprt1)...
2017: PloS One
https://www.readbyqxmd.com/read/28209402/chemokine-receptor-patterns-and-right-heart-failure-in-mechanical-circulatory-support
#14
Aditi Nayak, Colin Neill, Robert L Kormos, Luigi Lagazzi, Indrani Halder, Charles McTiernan, Jennifer Larsen, Ana Inashvili, Jeffrey Teuteberg, Timothy N Bachman, Karen Hanley-Yanez, Dennis M McNamara, Marc A Simon
BACKGROUND: Right ventricular failure (RVF) complicates 9% to 44% of left ventricular assist device (LVAD) implants post-operatively. Current prediction scores perform only modestly in validation studies, and do not include immune markers. Chemokines are inflammatory signaling molecules with a fundamental role in cardiac physiology and stress adaptation. In this study we investigated chemokine receptor regulation in LVAD recipients who develop RVF. METHODS: Expression of chemokine receptor (CCR) genes 3 to 8 were examined in the peripheral blood of 111 LVAD patients, collected 24 hours before implant...
June 2017: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/28192196/quantification-of-various-app-mrna-isoforms-and-epistasis-in-lesch-nyhan-disease
#15
Khue Vu Nguyen, William L Nyhan
The present work is the development of a simple and specific kinetic method based on RT-PCR technique coupled with direct sequencing for quantification of various amyloid precursor protein-mRNA isoforms (APP-mRNA isoforms) in biological samples, especially for identifying the most abundant one that may decisive for the normal status or disease risk. Application of this kinetic method to the Lesch-Nyhan disease (LND) was performed and results indicated an epistasis between mutated hypoxanthine phosphoribosyltransferase1 (HPRT1) and APP genes...
March 16, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28090788/selection-of-suitable-reference-genes-for-quantitative-real-time-pcr-in-trabecular-meshwork-cells-under-oxidative-stress
#16
Jing Zhao, HongYan Zhou, Lixia Sun, Ben Yang, Lin Zhang, Hongfeng Shi, Yajuan Zheng
Oxidative stress-induced dysfunction in trabecular meshwork (TM) cells is considered a major alteration that can lead to glaucoma. Hydrogen peroxide (H2O2) is the most widely used agent for inducing oxidation in TM cells in vitro. Quantitative real-time PCR (qPCR) is an important method for studying alterations in gene expression, and suitable (i.e. invariant) reference genes must be defined to normalize expression levels. In this study, eight common reference genes, i.e. PRS18, ACTB, B2M, GAPDH, PPIA, HPRT1, YWHAZ, and TBP, were evaluated for use in studies of H2O2-induced dysfunction in TM cells...
January 2017: Free Radical Research
https://www.readbyqxmd.com/read/28045594/human-hprt1-gene-and-the-lesch-nyhan-disease-substitution-of-alanine-for-glycine-and-inversely-in-the-hgprt-enzyme-protein
#17
Khue Vu Nguyen, Robert K Naviaux, William L Nyhan
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report three novel independent mutations in the coding region of the HPRT1 gene from genomic DNA of (a) a carrier sister of two male patients with LND: c.569G>C, p.G190A in exon 8; and (b) two LND affected male patients unrelated to her who had two mutations: c.648delC, p.Y216X, and c.653C>G, p.A218G in exon 9...
February 2017: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27974876/evaluation-of-housekeeping-genes-for-quantitative-gene-expression-analysis-in-the-equine-kidney
#18
Sara Azarpeykan, Keren E Dittmer
Housekeeping genes (HKGs) are used as internal controls for normalising and calculating the relative expression of target genes in RT-qPCR experiments. There is no unique universal HKG and HKGs vary among organisms and tissues, so this study aimed to determine the most stably expressed HKGs in the equine kidney. The evaluated HKGs included 18S ribosomal RNA (18S), 28S ribosomal RNA (28S), ribosomal protein L32 (RPL32), β-2-microglobulin (B2M), glyceraldehyde-3-phosphate dehydrogenase (GAPDH), succinate dehydrogenase complex (SDHA), zeta polypeptide (YWHAZ), and hypoxanthine phosphoribosyltransferase 1 (HPRT1)...
2016: Journal of Equine Science
https://www.readbyqxmd.com/read/27957397/validation-of-internal-reference-genes-for-relative-quantitation-studies-of-gene-expression-in-human-laryngeal-cancer
#19
Xiaofeng Wang, Jinting He, Wei Wang, Ming Ren, Sujie Gao, Guanjie Zhao, Jincheng Wang, Qiwei Yang
BACKGROUND: The aim of this study was to determine the expression stabilities of 12 common internal reference genes for the relative quantitation analysis of target gene expression performed by reverse transcription real-time quantitative polymerase chain reaction (RT-qPCR) in human laryngeal cancer. METHODS: Hep-2 cells and 14 laryngeal cancer tissue samples were investigated. The expression characteristics of 12 internal reference gene candidates (18S rRNA, GAPDH, ACTB, HPRT1, RPL29, HMBS, PPIA, ALAS1, TBP, PUM1, GUSB, and B2M) were assessed by RT-qPCR...
2016: PeerJ
https://www.readbyqxmd.com/read/27920633/lesch-nyhan-syndrome-models-theories-and-therapies
#20
REVIEW
Scott Bell, Ilaria Kolobova, Liam Crapper, Carl Ernst
Lesch-Nyhan syndrome (LNS) is a rare X-linked disorder caused by mutations in HPRT1, an important enzyme in the purine salvage pathway. Symptoms of LNS include dystonia, gout, intellectual disability, and self-mutilation. Despite having been characterized over 50 years ago, it remains unclear precisely how deficits in hypoxanthine and guanine recycling can lead to such a profound neurological phenotype. Several studies have proposed different hypotheses regarding the etiology of this disease, and several treatments have been tried in patients, though none have led to a satisfactory explanation of the disease...
November 2016: Molecular Syndromology
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