These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 30831305)

  • 1. Understanding the structure-function relationship of HPRT1 missense mutations in association with Lesch-Nyhan disease and HPRT1-related gout by in silico mutational analysis.
    Agrahari AK; Krishna Priya M; Praveen Kumar M; Tayubi IA; Siva R; Prabhu Christopher B; George Priya Doss C; Zayed H
    Comput Biol Med; 2019 Apr; 107():161-171. PubMed ID: 30831305
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.
    Yamada Y; Nomura N; Yamada K; Wakamatsu N; Kaneko K; Fujimori S
    Nucleosides Nucleotides Nucleic Acids; 2008 Jun; 27(6):570-4. PubMed ID: 18600506
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].
    Yamada Y
    Nihon Rinsho; 2008 Apr; 66(4):687-93. PubMed ID: 18409516
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.
    Yamada Y; Nomura N; Yamada K; Wakamatsu N
    Mol Genet Metab; 2007 Jan; 90(1):70-6. PubMed ID: 17027311
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease.
    Fujimori S; Tagaya T; Kamatani N; Akaoka I
    Hum Genet; 1992 Dec; 90(4):385-8. PubMed ID: 1282899
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Missense mutations and evolutionary conserved amino acids at the human hypoxanthine phosphoribosyl-transferase locus.
    Lambert B; Marcus S; Andersson B; Hou SM; Steen AM; Hellgren D
    Pharmacogenetics; 1992 Dec; 2(6):329-36. PubMed ID: 1306134
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line.
    Tohyama J; Nanba E; Ohno K
    Hum Genet; 1994 Feb; 93(2):175-81. PubMed ID: 8112742
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
    Yamada Y; Nomura N; Yamada K; Kimura R; Fukushi D; Wakamatsu N; Matsuda Y; Yamauchi T; Ueda T; Hasegawa H; Nakamura M; Ichida K; Kaneko K; Fujimori S
    Nucleosides Nucleotides Nucleic Acids; 2014; 33(4-6):218-22. PubMed ID: 24940672
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
    Nguyen KV; Naviaux RK; Nyhan WL
    Nucleosides Nucleotides Nucleic Acids; 2017 Nov; 36(11):704-711. PubMed ID: 29185864
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular characterization and structure analysis of HPRT in a Chinese patient with Lesch-Nyhan disease.
    Jian WX; Peng WH; Li HL; Feng QW; Wang WX; Su Q
    Nucleosides Nucleotides Nucleic Acids; 2013; 32(4):189-95. PubMed ID: 24001192
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
    Yamada Y; Yamada K; Nomura N; Yamano A; Kimura R; Tomida S; Naiki M; Wakamatsu N
    Nucleosides Nucleotides Nucleic Acids; 2010 Jun; 29(4-6):291-4. PubMed ID: 20544509
    [TBL] [Abstract][Full Text] [Related]  

  • 12. CRISPR/Cas9-mediated generation of human embryonic stem cell sub-lines with HPRT1 gene knockout to model Lesch Nyhan disease.
    Boissart C; Chatrousse L; Poullion T; El-Kassar L; Giraud-Triboult K; Benchoua A
    Stem Cell Res; 2023 Sep; 71():103144. PubMed ID: 37331109
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular genetics of the HPRT-deficiency syndromes.
    Wilson JM; Kelley WN
    Hosp Pract (Off Ed); 1984 May; 19(5):81-9, 93-7, 100. PubMed ID: 6425346
    [No Abstract]   [Full Text] [Related]  

  • 14. Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.
    Nguyen KV; Nyhan WL
    Nucleosides Nucleotides Nucleic Acids; 2016 Aug; 35(8):426-33. PubMed ID: 27379977
    [TBL] [Abstract][Full Text] [Related]  

  • 15. New mutations of the HPRT gene in Lesch-Nyhan syndrome.
    Mak BS; Chi CS; Tsai CR; Lee WJ; Lin HY
    Pediatr Neurol; 2000 Oct; 23(4):332-5. PubMed ID: 11068166
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family.
    Lee WJ; Lee HM; Chi CS; Yang MT; Lin HY; Lin WH
    Zhonghua Yi Xue Za Zhi (Taipei); 1995 Dec; 56(6):359-66. PubMed ID: 8851475
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Torres RJ; Puente S; Menendez A; Fernandez-Garcia N
    Clin Chim Acta; 2017 Sep; 472():136-138. PubMed ID: 28782500
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
    Yamada Y; Yamada K; Sonta S; Wakamatsu N; Ogasawara N
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1169-72. PubMed ID: 15571223
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers.
    de Gemmis P; Anesi L; Lorenzetto E; Gioachini I; Fortunati E; Zandonà G; Fanin E; Fairbanks L; Andrighetto G; Parmigiani P; Dolcetta D; Nyhan WL; Hladnik U
    Mutat Res; 2010 Oct; 692(1-2):1-5. PubMed ID: 20638392
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel mutation in HPRT1 causing a splicing error with multiple variations.
    Baba S; Saito T; Yamada Y; Takeshita E; Nomura N; Yamada K; Wakamatsu N; Sasaki M
    Nucleosides Nucleotides Nucleic Acids; 2017 Jan; 36(1):1-6. PubMed ID: 27754763
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.