Works matching DE "LESCH-Nyhan syndrome"

Results: 183

A Preventive Approach to Oral Self-mutilation in Lesch-Nyhan Syndrome: A Case Report.

Published in:

Pediatric Dentistry, 2006, v. 28, n. 4, p. 341

By:

Tae-Sung Jeong;
Ji-Hyun Lee;
Shin Kim;
Ji-Hoon Kim;
Tootla, Ruwaida G. H.

Publication type:

Article

Identification of Suitable Housekeeping Genes for Quantitative Gene Expression Analysis During Retinoic Acid-induced Differentiation of Embryonal Carcinoma NCCIT Cells.

Published in:

Journal of Cell & Molecular Research, 2020, v. 12, n. 2, p. 104, doi. 10.22067/jcmr.v12i2.88457

By:

Soltanian, Sara;
Sheikhbahaei, Mahboubeh

Publication type:

Article

New personalized genetic mouse model of Lesch- Nyhan syndrome for pharmacology and gene therapy.

Published in:

Research Results in Pharmacology, 2018, v. 4, n. 4, p. 115, doi. 10.3897/rrpharmacology.4.32209

By:

Kalmykov, Vladislav A.;
Kusov, Pavel A.;
Yablonskaia, Maria I.;
Korshunov, Evgeniy N.;
Korshunova, Diana S.;
Kubekina, Marina V.;
Silaeva, Yuliya Yu.;
Deykin, Alexey V.;
Lukyanov, Nikolay E.

Publication type:

Article

Oral self-injury. An update.

Published in:

Dental Traumatology, 2013, v. 29, n. 1, p. 8, doi. 10.1111/j.1600-9657.2012.01121.x

By:

Limeres, Jacobo;
Feijoo, Javier F;
Baluja, Fernando;
Seoane, Juan Manuel;
Diniz, Marcio;
Diz, Pedro

Publication type:

Article

Effective treatment of self-injurious oral trauma in Lesch-Nyhan syndrome: a case report Arhakis et al. Effective treatment of self-injurious oral trauma.

Published in:

Dental Traumatology, 2010, v. 26, n. 6, p. 496, doi. 10.1111/j.1600-9657.2010.00930.x

By:

Arhakis, Aristidis;
Topouzelis, Nikolaos;
Kotsiomiti, Eleni;
Kotsanos, Nikolaos

Publication type:

Article

Molecular and functional analysis of hypoxanthine-guanine phosphoribosyltransferase from Arabidopsis thaliana.

Published in:

New Phytologist, 2007, v. 175, n. 3, p. 448, doi. 10.1111/j.1469-8137.2007.02117.x

By:

Xueying Liu;
Weiqiang Qian;
Xin Liu;
Huanju Qin;
Daowen Wang

Publication type:

Article

Nephrolithiasis related to inborn metabolic diseases.

Published in:

Pediatric Nephrology, 2010, v. 25, n. 3, p. 415, doi. 10.1007/s00467-008-1085-6

By:

Cochat, Pierre;
Pichault, Valérie;
Bacchetta, Justine;
Dubourg, Laurence;
Sabot, Jean-François;
Saban, Christine;
Daudon, Michel;
Liutkus, Aurélia

Publication type:

Article

Rare variant of Lesch–Nyhan syndrome without self-mutilation or nephrolithiasis.

Published in:

2007

By:

Levart, Tanja Kersnik

Publication type:

Report

Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome.

Published in:

Pediatric Nephrology, 2006, v. 21, n. 7, p. 1045, doi. 10.1007/s00467-006-0149-8

By:

Sikora, Przemysław;
Pijanowska, Monika;
Majewski, Marek;
Bieniaś, Beata;
Borzęcka, Halina;
Zajczkowska, Małgorzata

Publication type:

Article

Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation.

Published in:

Pediatric Nephrology, 2005, v. 20, n. 9, p. 1346, doi. 10.1007/s00467-005-1935-4

By:

Gregorič, Alojz;
Rabelink, Gwenda M.;
Vokač, Nadja Kokalj;
Varda, Nataša Marčun;
Zagradišnik, Boris

Publication type:

Article

Low-molecular-weight proteinuria in a patient with Lesch-Nyhan syndrome.

Published in:

Pediatric Nephrology, 2005, v. 20, n. 7, p. 1019, doi. 10.1007/s00467-005-1837-5

By:

Maruyama, Kenichi;
Hamajima, Akito;
Shimizu, Nobuzo

Publication type:

Article

The human β-amyloid precursor protein: biomolecular and epigenetic aspects.

Published in:

Biomolecular Concepts, 2015, v. 6, n. 1, p. 11, doi. 10.1515/bmc-2014-0041

By:

Khue Vu Nguyen

Publication type:

Article

Identification of mouse mutant cells exhibiting plastic mutant phenotype II; Ionizing radiation-induced mutant phenotype plasticity is not dependent on DNA methylation of the hypoxanthine phosphoribosyl transferase gene in mouse FM3A cells.

Published in:

BioScience Trends, 2010, v. 4, n. 6, p. 312

By:

Yamauchi, Masatake;
Fukutsu, Kumiko;
Sakagami, Mari;
Miyazaki, Taeko;
Yamada, Yuji

Publication type:

Article

Identification of mouse mutant cells exhibiting the plastic mutant phenotype.

Published in:

BioScience Trends, 2010, v. 4, n. 4, p. 195

By:

Yamauchi, Masatake;
Fukutsu, Kumiko;
Sakagami, Mari;
Yamada, Yuji

Publication type:

Article

Identification and evaluation of endogenous reference genes for steady state transcript quantification by qPCR in the diatom Phaeodactylum tricornutum with constitutive expression independent from time and light.

Published in:

Endocytobiosis & Cell Research, 2013, v. 24, p. 1

By:

Sachse, Matthias;
Sturm, Sabine;
Gruber, Ansgar;
Kroth, Peter G.

Publication type:

Article

Behavioral aspects of Lesch–Nyhan disease and its variants.

Published in:

Developmental Medicine & Child Neurology, 2005, v. 47, n. 10, p. 673, doi. 10.1017/S0012162205001374

By:

David J Schretlen;
Julianna Ward;
Stephen M Meyer;
Jonathan Yun;
Juan G Puig;
William L Nyhan;
HA Jinnah;
James C Harris

Publication type:

Article

Botulinum toxin as a novel treatment for self-mutilation in Lesch–Nyhan syndrome.

Published in:

Developmental Medicine & Child Neurology, 2005, v. 47, n. 9, p. 636, doi. 10.1017/S0012162205001246

By:

Edward Dabrowski;
Sarah A Smathers;
Curt S Ralstrom;
Michael A Nigro;
Jimmie P Leleszi

Publication type:

Article

The 2.0 Å structure of human hypoxanthine-guanine phosphoribosyltransferase in complex with a transition-state analog inhibitor.

Published in:

Nature Structural Biology, 1999, v. 6, n. 6, p. 588

By:

Shi, Wuxian;
Li, Caroline M.;
Tyler, Peter C.;
Furneaux, Richard H.;
Grubmeyer, Charles;
Schramm, Vern L.;
Almo, Steven C.

Publication type:

Article

Nucleotide Salvage Deficiencies, DNA Damage and Neurodegeneration.

Published in:

International Journal of Molecular Sciences, 2015, v. 16, n. 5, p. 9431, doi. 10.3390/ijms16059431

By:

Fasullo, Michael;
Endres, Lauren

Publication type:

Article

Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report.

Published in:

2018

By:

Shields, Lisa B. E.;
Peppas, Dennis S.;
Rosenberg, Eran

Publication type:

journal article

Evaluation of Frequencies of HPRT Mutant Lymphocytes in Butadiene Polymer Workers in a Southeast Texas Facility.

Published in:

Environmental & Molecular Mutagenesis, 2009, v. 50, n. 2, p. 82, doi. 10.1002/em.20437

By:

Wickliffe, Jeffrey K.;
Ammenheuser, Marinel M.;
Adler, P. Jene;
Abdel-Rahman, Sherif Z.;
Ward Jr., Jonathan B.

Publication type:

Article

Effect of Chronic Azathioprine Treatment on Germ-Line Transmission of Hprt Mutation in Mice.

Published in:

Environmental & Molecular Mutagenesis, 2007, v. 48, n. 9, p. 744, doi. 10.1002/em.20352

By:

Bendre, Sachin V.;
Shaddock, Joseph G.;
Dobrovolsky, Vasily N.;
Albertini, Richard J.;
Heflich, Robert H.

Publication type:

Article

The benchmark dose estimation of reference levels of serum urate for gout.

Published in:

Clinical Rheumatology, 2018, v. 37, n. 10, p. 2887, doi. 10.1007/s10067-018-4273-1

By:

Chen, Xiao;
Wang, Zhongqiu;
Duan, Na;
Cui, Wenjing;
Ding, Xiaoqiang;
Jin, Taiyi

Publication type:

Article

Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome.

Published in:

2011

By:

Oh, Mi;
Ham, Byeong;
Kang, Seok;
Bae, Jae;
Kim, Je;
Yoo, Ki;
Yoon, Duck;
Moon, Du

Publication type:

Report

Non-detectable levels of 6-thioguanine nucleotides and 6-methylmercaptopurine in a patient treated with azathioprine: a case report.

Published in:

British Journal of Clinical Pharmacology, 2007, v. 63, n. 4, p. 508, doi. 10.1111/j.1365-2125.2007.02886_10.x

By:

Wong, D. R.;
den Dulk, M. O.;
Derijks, L. J. J.;
Gemmeke, E. H. K. M.;
Hooymans, P. M.

Publication type:

Article

LESCH-NYHAN SYNDROME: A RARE DISORDER OF SELF-MUTILATING BEHAVIOR.

Published in:

2014

By:

Gupta, Mrinal;
Mahajan, Vikram K.;
Sharma, Vikas;
Chauhan, Pushpinder S.;
Mehta, Karaninder S.

Publication type:

Case Study

Differential expression of glyceraldehyde-3-phosphate dehydrogenase (GAPDH), β actin and hypoxanthine phosphoribosyltransferase (HPRT) in postnatal rabbit sclera.

Published in:

Current Eye Research, 2001, v. 23, n. 1, p. 44, doi. 10.1076/ceyr.23.1.44.5420

By:

Moe, Thu K.;
Ziliang, Ji;
Barathi, Amutha;
Beuerman, Roger W.

Publication type:

Article

METABOLIC DISORDERS: LESCH-NYHAN SYNDROME.

Published in:

Journal of Advanced Scientific Research, 2020, v. 11, p. 31

By:

Rami, Esha;
Bhatt, Nishchay;
Wadhwani, Nisha;
Sharma, Anushka

Publication type:

Article

METABOLIC DISORDERS: LESCH-NYHAN SYNDROME.

Published in:

Journal of Advanced Scientific Research, 2020, v. 11, p. 31

By:

Rami, Esha;
Bhatt, Nishchay;
Wadhwani, Nisha;
Sharma, Anushka

Publication type:

Article

Untitled.

Published in:: BioScience, 1969, v. 19, n. 8, p. 740
Publication type:: Article

Untitled.

Published in:: BioScience, 1969, v. 19, n. 8, p. 740
Publication type:: Article

The Effect of S-Adenosylmethionine Treatment on Neurobehavioral Phenotypes in Lesch-Nyhan Disease: A Case Report.

Published in:

Case Reports in Neurology, 2019, v. 11, n. 3, p. 256, doi. 10.1159/000502568

By:

Momosaki, Ken;
Kido, Jun;
Matsumoto, Shiro;
Taniguchi, Atsuo;
Akiyama, Tomoyuki;
Sawada, Takaaki;
Ozasa, Shiro;
Nakamura, Kimitoshi

Publication type:

Article

GLUT9 influences uric acid concentration in patients with Lesch‐Nyhan disease.

Published in:

International Journal of Rheumatic Diseases, 2018, v. 21, n. 6, p. 1270, doi. 10.1111/1756-185X.13323

By:

Torres, Rosa J.;
Puig, Juan G.

Publication type:

Article

New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-014-0219-0

By:

Ceballos-Picot, Irène;
Le Dantec, Aurélia;
Brassier, Anaïs;
Jaïs, Jean-Philippe;
Ledroit, Morgan;
Cahu, Julie;
Hang-Korng Ea;
Daignan-Fornier, Bertrand;
Pinson, Benoît

Publication type:

Article

New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 39, doi. 10.1186/s13023-014-0219-0

By:

Ceballos-Picot, Irène;
Le Dantec, Aurélia;
Brassier, Anaïs;
Jaïs, Jean-Philippe;
Ledroit, Morgan;
Cahu, Julie;
Hang-Korng Ea;
Daignan-Fornier, Bertrand;
Pinson, Benoît

Publication type:

Article

Treatment of motor and behavioural symptoms in three Lesch-Nyhan patients with intrathecal baclofen.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 408, doi. 10.1186/s13023-014-0208-3

By:

Pozzi, Marco;
Piccinini, Luigi;
Gallo, Maurizio;
Motta, Francesco;
Radice, Sonia;
Clementi, Emilio

Publication type:

Article

Purification and Characterization of Hypoxanthine/Guanine Phosphoribosyltransferase in Bovine Snout Epidermis.

Published in:

Journal of Investigative Dermatology, 1980, v. 75, n. 3, p. 240, doi. 10.1111/1523-1747.ep12523252

By:

Ogura, Ryohei;
Koga, Hideaki;
Kumano, Shuji

Publication type:

Article

Hematological parameters in adolescents with hyperuricemia.

Published in:

Indian Pediatrics, 2014, v. 51, n. 12, p. 1003, doi. 10.1007/s13312-014-0547-0

By:

Stelmach, Marian;
Szczerbinski, Lukasz;
Wasilewska, Natalia;
Protas, Piotr;
Wasilewska, Anna

Publication type:

Article

"Orange sand" in the diaper of a toddler who does not toddle.

Published in:

Contemporary Pediatrics, 2003, v. 20, n. 5, p. 27

By:

Anilkumar, A. C.;
Siberry, George K.

Publication type:

Article

Specificities and pH profiles of adenine and hypoxanthine-guanine-xanthine phosphoribosyltransferases (nucleotide synthases) of the thermoacidophile archaeon Sulfolobus solfataricus.

Published in:

Extremophiles, 2014, v. 18, n. 1, p. 179, doi. 10.1007/s00792-013-0595-8

By:

Hansen, Michael;
Jensen, Kristine;
Rasmussen, Mads;
Christoffersen, Stig;
Kadziola, Anders;
Jensen, Kaj

Publication type:

Article

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.

Published in:

2008

By:

Ishida, Yasushi;
Ishimaru, Asako;
Tauchi, Hisamichi;
Yamaguchi, Akiko;
Yokoyama, Masayoshi;
Hiroi, Kazuhiro;
Wakamatsu, Nobuaki;
Yamada, Yasukazu

Publication type:

journal article

Research on genes: promises and limitations.

Published in:

Journal of Psychiatry & Neuroscience, 1999, v. 24, n. 4, p. 300

By:

Young, Simon N.;
Palmour, Roberta M.

Publication type:

Article

Functional Organization of a Schwann Cell Enhancer.

Published in:

Journal of Neuroscience, 2005, v. 25, n. 48, p. 11210, doi. 10.1523/JNEUROSCI.2596-05.2005

By:

Denarier, Eric;
Forghani, Reza;
Farhadi, Hooman F.;
Dib, Samar;
Dionne, Nancy;
Friedman, Hana C.;
Lepage, Pierre;
Hudson, Thomas J.;
Drouin, Régen;
Peterson, Alan

Publication type:

Article

Association between hyperuricemia and atrial fibrillation in rural China: a cross-sectional study.

Published in:

BMC Cardiovascular Disorders, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12872-015-0089-y

By:

Guo-Zhe Sun;
Liang Guo;
Jun Wang;
Ning Ye;
Xun-Zhang Wang;
Ying-Xian Sun

Publication type:

Article

Lesch-Nyhan syndrome: A case report.

Published in:

2008

By:

A., Kale;
K., Shah;
S., Hallikerimath

Publication type:

Case Study

Crystal structure of Thermoanaerobacter tengcongensis hypoxanthine-guanine phosphoribosyl transferase L160I mutant − insights into inhibitor design.

Published in:

FEBS Journal, 2007, v. 274, n. 17, p. 4408, doi. 10.1111/j.1742-4658.2007.05970.x

By:

Chen, Qiang;
You, Delin;
Liang, Yuhe;
Su, Xiaodong;
Gu, Xiaocheng;
Luo, Ming;
Zheng, Xiaofeng

Publication type:

Article

Targeted insertion of two Mthfr promoters in mice reveals temporal- and tissue-specific regulation.

Published in:

Mammalian Genome, 2011, v. 22, n. 11/12, p. 635, doi. 10.1007/s00335-011-9351-5

By:

Pickell, Laura;
Wu, Qing;
Wang, Xiao-Ling;
Leclerc, Daniel;
Friedman, Hana;
Peterson, Alan;
Rozen, Rima

Publication type:

Article

A triple-helix forming oligonucleotide targeting genomic DNA fails to induce mutation.

Published in:

Mutagenesis, 2012, v. 27, n. 6, p. 713, doi. 10.1093/mutage/ges037

By:

Reshat, Reshat;
Priestley, Catherine C.;
Gooderham, Nigel J.

Publication type:

Article

Uranyl acetate induces hprt mutations and uranium–DNA adducts in Chinese hamster ovary EM9 cells.

Published in:

Mutagenesis, 2005, v. 20, n. 6, p. 417, doi. 10.1093/mutage/gei056

By:

Stearns, Diane M.;
Yazzie, Monica;
Bradley, Andrew S.;
Coryell, Virginia H.;
Shelley, Jake T.;
Ashby, Adam;
Asplund, Craig S.;
Lantz, R.Clark

Publication type:

Article

Mutagenicity and loss of heterozygosity at the APRT locus in human lymphoblastoid cells exposed to 3′-azido-3′-deoxythymidine.

Published in:

Mutagenesis, 2000, v. 15, n. 5, p. 405, doi. 10.1093/mutage/15.5.405

By:

Quanxin Meng;
Grosovsky, Andrew J.;
Xiaochu Shi;
Walker, Vernon E.

Publication type:

Article