keyword
MENU ▼
Read by QxMD icon Read
search

Hprt1

keyword
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
#1
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...
January 3, 2017: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27974876/evaluation-of-housekeeping-genes-for-quantitative-gene-expression-analysis-in-the-equine-kidney
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/27890856/sirna-cell-penetrating-peptides-complexes-as-a-combinatorial-therapy-against-chronic-myeloid-leukemia-using-bv173-cell-line-as-model
#5
João Miguel Freire, Inês Rego de Figueiredo, Javier Valle, Ana Salomé Veiga, David Andreu, Francisco J Enguita, Miguel A R B Castanho
Chronic myeloid leukemia (CML) is a myeloproliferative disorder caused by a single gene mutation, a reciprocal translocation that originates the Bcr-Abl gene with constitutive tyrosine kinase activity. As a monogenic disease, it is an optimum target for RNA silencing therapy. We developed a siRNA-based therapeutic approach in which the siRNA is delivered by pepM or pepR, two cell-penetrating peptides (CPPs) derived from the dengue virus capsid protein. These peptides have a dual role: siRNA delivery into cells and direct action as bioportides, i...
November 24, 2016: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/27871465/identification-of-genes-for-normalization-of-real-time-rt-pcr-data-in-placental-tissues-from-intrahepatic-cholestasis-of-pregnancy
#6
Yanli Li, Huifang Lu, Yizhen Ji, Sufang Wu, Yongbin Yang
The selection of suitable reference genes is crucial for proper interpretation of RT-qPCR data. To date, a systematic screening for reference genes in placental tissues from intrahepatic cholestasis of pregnancy (ICP) is missing. Eighteen candidate reference genes were investigated to determine their applicability by descriptive statistics and published algorithms. HPRT1, YWHAZ and PUM1 were found to be the most stable genes and could be used for normalization in gene expression study of placentas from ICP...
December 2016: Placenta
https://www.readbyqxmd.com/read/27765062/the-60s-ribosomal-protein-l13-is-the-most-preferable-reference-gene-to-investigate-gene-expression-in-selected-organs-from-turkeys-and-chickens-in-context-of-different-infection-models
#7
Taniya Mitra, Ivana Bilic, Michael Hess, Dieter Liebhart
Evaluation of reference genes for expression studies in chickens and turkeys is very much limited and unavailable for various infectious models. In this study, eight candidate reference genes HMBS, HPRT1, TBP, VIM, TFRC, RPLP0, RPL13 and RPS7 were evaluated by five different algorithms (GeNorm, NormFinder, BestKeeper©, delta CT, RefFinder) to assess their stability. In order to analyze a broad variation of tissues, spleen, liver, caecum and caecal tonsil of different aged specific pathogen free (SPF) layer chickens and commercial turkeys, uninfected or infected with the extracellular pathogen Histomonas meleagridis, were included...
October 20, 2016: Veterinary Research
https://www.readbyqxmd.com/read/27754763/novel-mutation-in-hprt1-causing-a-splicing-error-with-multiple-variations
#8
Shimpei Baba, Takashi Saito, Yasukazu Yamada, Eri Takeshita, Noriko Nomura, Kenichiro Yamada, Nobuaki Wakamatsu, Masayuki Sasaki
Lesch-Nyhan disease (LND) is a rare X-linked recessive disorder caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), encoded by the HPRT1. To date, nearly all types of mutations have been reported in the whole gene; however, duplication mutations are rare. We here report the case of a 9-month-old boy with LND. He showed developmental delay, athetosis, and dystonic posture from early infancy, but no self-injurious behaviors. Hyperuricemia was detected, and his HPRT enzyme activity in erythrocytes was completely deficient...
January 2, 2017: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27754102/os-21-07-expression-of-catecholaminergic-system-genes-in-adrenal-medulla-or-sympathetic-ganglia-of-spontaneously-hypertensive-rat
#9
Anna Vavřínová, Michal Behuliak, Josef Zicha
OBJECTIVE: Catecholaminergic system plays an important role in blood pressure regulation and hypertension development. The available information concerning mRNA expression of catecholaminergic system genes in spontaneously hypertensive rats (SHR) are often contradictory. This might be due to various reference genes used as internal controls. We therefore searched for suitable reference genes for gene expression profiling in adrenal medulla and sympathetic ganglia of SHR and Wistar-Kyoto (WKY) rats, which would enable reliable comparison of mRNA expression of genes of catecholaminergic system between these strains...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27643027/os-21-07-expression-of-catecholaminergic-system-genes-in-adrenal-medulla-or-sympathetic-ganglia-of-spontaneously-hypertensive-rat
#10
Anna Vavřínová, Michal Behuliak, Josef Zicha
OBJECTIVE: Catecholaminergic system plays an important role in blood pressure regulation and hypertension development. The available information concerning mRNA expression of catecholaminergic system genes in spontaneously hypertensive rats (SHR) are often contradictory. This might be due to various reference genes used as internal controls. We therefore searched for suitable reference genes for gene expression profiling in adrenal medulla and sympathetic ganglia of SHR and Wistar-Kyoto (WKY) rats, which would enable reliable comparison of mRNA expression of genes of catecholaminergic system between these strains...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27601259/identification-of-suitable-reference-genes-for-quantitative-gene-expression-analysis-in-rat-adipose-stromal-cells-induced-to-trilineage-differentiation
#11
Bruno Paiva Dos Santos, Luciana Fraga da Costa Diesel, Lindolfo da Silva Meirelles, Nance Beyer Nardi, Melissa Camassola
This study was designed to (i) identify stable reference genes for the analysis of gene expression during in vitro differentiation of rat adipose stromal cells (rASCs), (ii) recommend stable genes for individual treatment conditions, and (iii) validate these genes by comparison with normalization results from stable and unstable reference genes. On the basis of a literature review, eight genes were selected: Actb, B2m, Hprt1, Ppia, Rplp0, Rpl13a, Rpl5, and Ywhaz. Genes were ranked according to their stability under different culture conditions as assessed using GenNorm, NormFinder, and RefFinder algorithms...
December 15, 2016: Gene
https://www.readbyqxmd.com/read/27491780/forward-genetic-screen-of-human-transposase-genomic-rearrangements
#12
Anton G Henssen, Eileen Jiang, Jiali Zhuang, Luca Pinello, Nicholas D Socci, Richard Koche, Mithat Gonen, Camila M Villasante, Scott A Armstrong, Daniel E Bauer, Zhiping Weng, Alex Kentsis
BACKGROUND: Numerous human genes encode potentially active DNA transposases or recombinases, but our understanding of their functions remains limited due to shortage of methods to profile their activities on endogenous genomic substrates. RESULTS: To enable functional analysis of human transposase-derived genes, we combined forward chemical genetic hypoxanthine-guanine phosphoribosyltransferase 1 (HPRT1) screening with massively parallel paired-end DNA sequencing and structural variant genome assembly and analysis...
2016: BMC Genomics
https://www.readbyqxmd.com/read/27484587/optimization-of-reference-genes-for-normalization-of-reverse-transcription-quantitative-real-time-polymerase-chain-reaction-results-in-senescence-study-of-mesenchymal-stem-cells
#13
Xiaodong Su, Xinglei Yao, Zhao Sun, Qin Han, Robert Chunhua Zhao
Recently, it has been suggested that cellular senescence is associated with stem cell exhaustion, which reduces the regenerative potential of tissues and contributes to aging and age-related diseases. Mesenchymal stem cells (MSCs) attract a large amount of attention in stem cell research and regeneration medicine because they possess multiple advantages and senescent MSCs could be one of the most useful stem cell models in aging studies. It is important to quantitatively evaluate senescence markers to both identify and study the mechanisms involved in MSC senescence...
September 15, 2016: Stem Cells and Development
https://www.readbyqxmd.com/read/27438566/the-roles-of-tenascin-c-and-fibronectin-1-in-adhesive-capsulitis-a-pilot-gene-expression-study
#14
Carina Cohen, Mariana Ferreira Leal, Paulo Santoro Belangero, Eduardo Antônio Figueiredo, Marília Cardoso Smith, Carlos Vicente Andreoli, Alberto de Castro Pochini, Moises Cohen, Benno Ejnisman, Flávio Faloppa
OBJECTIVES: We evaluated mRNA expression levels of genes that encode TGF-β1; the TGF-β1 receptor; the collagen-modifying enzymes LOX, PLOD1, and PLOD2; and the extracellular matrix proteins COMP, FN1, TNC and TNXB in synovial/capsule specimens from patients with idiopathic adhesive capsulitis. Possible associations between the measured mRNA levels and clinical parameters were also investigated. METHODS: We obtained glenohumeral joint synovium/capsule specimens from 9 patients with idiopathic adhesive capsulitis who had not shown improvement in symptoms after 5 months of physiotherapy...
July 2016: Clinics
https://www.readbyqxmd.com/read/27420966/hprtyale-proposed-as-a-pathogenic-variant-for-lesch-nyhan-syndrome-a-case-report
#15
E Stur, R S Reis, L P Agostini, A M A Silva-Conforti, I D Louro
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT), an enzyme encoded by the HPRT1 gene. The classic disease phenotype described by Lesch and Nyhan in 1964 includes hyperuricemia, mental retardation, severe motor deficiency, and recurring self-mutilation. Here, we report the case of a family with 4 affected males and several female obligate carriers. In 1989, Fujimori et al. reported on a patient diagnosed with LNS who had an HPRT variant thereafter codenamed HPRTYale...
June 24, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27379977/mutation-in-the-human-hprt1-gene-and-the-lesch-nyhan-syndrome
#16
Khue Vu Nguyen, William L Nyhan
Lesch-Nyhan syndrome (LNS) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report a novel mutation which led to HGprt-related neurological dysfunction (HND) in two brothers from the same family with a missense mutation in exon 6 of the coding region of the HPRT1 gene: c.437T>C, p.L146S. Molecular diagnosis discloses the genetic heterogeneity of the HPRT1 gene responsible for HGprt deficiency...
August 2, 2016: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27339468/serum-availability-affects-expression-of-common-house-keeping-genes-in-colon-adenocarcinoma-cell-lines-implications-for-quantitative-real-time-pcr-studies
#17
Malgorzata Krzystek-Korpacka, Katarzyna Hotowy, Elzbieta Czapinska, Magdalena Podkowik, Jacek Bania, Andrzej Gamian, Iwona Bednarz-Misa
Careful selection of housekeeping genes (HKG) is prerequisite to yield sound qPCR results. HKG expression varies in response to hypoxia but the effect of manipulations of serum availability, a common experimental procedure, remains unknown. Also, no data on HKG expression stability across colon adenocarcinoma lines that would aid selection of normalizers suitable for studies involving several lines are available. Thus, we evaluated the effect of serum availability on the expression of commonly used HKG (ACTB, B2M, GAPDH, GUSB, HPRT1, IPO8, MRPL19, PGK1, PPIA, RPLP0, RPS23, SDHA, TBP, UBC, and YWHAZ) in seven colon adenocarcinoma cell lines (Caco-2, DLD-1, HCT116, HT29, Lovo, SW480, and SW620)...
December 2016: Cytotechnology
https://www.readbyqxmd.com/read/27323096/evaluation-of-the-stability-of-reference-genes-in-bone-mesenchymal-stem-cells-from-patients-with-avascular-necrosis-of-the-femoral-head
#18
X N Wang, Q W Yang, Z W Du, T Yu, Y G Qin, Y Song, M Xu, J C Wang
This study aimed to evaluate 12 genes (18S, GAPDH, B2M, ACTB, ALAS1, GUSB, HPRT1, PBGD, PPIA, PUM1, RPL29, and TBP) for their reliability and stability as reference sequences for real-time quantitative PCR (RT-qPCR) in bone marrow-derived mesenchymal stem cells (BMSCs) isolated from patients with avascular necrosis of the femoral head (ANFH). BMSCs were isolated from 20 ANFH patients divided into four groups according to etiology, and four donors with femoral neck fractures. Total RNA was isolated from BMSCs and reverse transcribed into complementary DNA, which served as a template for RT-qPCR...
May 25, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27288985/genetic-background-of-uric-acid-metabolism-in-a-patient-with-severe-chronic-tophaceous-gout
#19
Lenka Petru, Katerina Pavelcova, Ivan Sebesta, Blanka Stiburkova
Hyperuricemia depends on the balance of endogenous production and renal excretion of uric acid. Transporters for urate are located in the proximal tubule where uric acid is secreted and extensively reabsorbed: secretion is principally ensured by the highly variable ABCG2 gene. Enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) plays a central role in purine metabolism and its deficiency is an X-linked inherited metabolic disorder associated with clinical manifestations of purine overproduction. Here we report the case of a middle-aged man with severe chronic tophaceous gout with a poor response to allopurinol and requiring repeated surgical intervention...
September 1, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27284322/effect-of-helicobacter-pylori-on-nfkb1-p38%C3%AE-and-tnf-%C3%AE-mrna-expression-levels-in-human-gastric-mucosa
#20
Henrique Sulzbach Sulzbach DE Oliveira, Vanderlei Biolchi, Helouise Richardt Richardt Medeiros, Daiane Bizerra Gandor Bizerra Gandor Jantsch, Luciana Knabben Knabben DE Oliveira Becker Delving, Roberto Reckziegel, Márcia Inês Goettert, Ilma Simoni Brum, Adriane Pozzobon
Helicobacter pylori infects ~50% of the world population, causing chronic gastritis and other forms of cellular damage. The present study assessed the influence of H. pylori on the mRNA expression levels of nuclear factor-κB1 (NFKB1), p38α and tumor necrosis factor-α (TNF-α) in human gastric mucosa in a southern Brazilian population. Human gastric tissue was collected by upper endoscopy and H. pylori diagnosis was performed using a rapid urease test and histological analysis. Total RNA was extracted and purified for subsequent cDNA synthesis and analysis by quantitative polymerase chain reaction (qPCR)...
June 2016: Experimental and Therapeutic Medicine
keyword
keyword
112994
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"