344 related articles for article (PubMed ID: 29185864)
1. 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]
2. 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]
3. Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.
Nguyen KV; Silva S; Troncoso M; Naviaux RK; Nyhan WL
Nucleosides Nucleotides Nucleic Acids; 2017 Jul; 36(7):452-462. PubMed ID: 28524722
[TBL] [Abstract][Full Text] [Related]
4. Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.
Nguyen KV; Naviaux RK; Nyhan WL
Nucleosides Nucleotides Nucleic Acids; 2017 Feb; 36(2):151-157. PubMed ID: 28045594
[TBL] [Abstract][Full Text] [Related]
5. Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene.
Nguyen KV; Nyhan WL
Nucleosides Nucleotides Nucleic Acids; 2015; 34(6):442-7. PubMed ID: 25965333
[TBL] [Abstract][Full Text] [Related]
6. Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP).
Nguyen KV; Naviaux RK; Nyhan WL
Nucleosides Nucleotides Nucleic Acids; 2020; 39(6):905-922. PubMed ID: 32312153
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome.
Taniguchi A; Yamada Y; Hakoda M; Sekita C; Kawamoto M; Kaneko H; Yamanaka H
Nucleosides Nucleotides Nucleic Acids; 2011 Dec; 30(12):1266-71. PubMed ID: 22132985
[TBL] [Abstract][Full Text] [Related]
9. New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.
Ceballos-Picot I; Le Dantec A; Brassier A; Jaïs JP; Ledroit M; Cahu J; Ea HK; Daignan-Fornier B; Pinson B
Orphanet J Rare Dis; 2015 Jan; 10():7. PubMed ID: 25612837
[TBL] [Abstract][Full Text] [Related]
10. A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome.
Mizunuma M; Fujimori S; Ogino H; Ueno T; Inoue H; Kamatani N
Hum Mutat; 2001 Nov; 18(5):435-43. PubMed ID: 11668636
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Potential molecular link between the β-amyloid precursor protein (APP) and hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme in Lesch-Nyhan disease and cancer.
Nguyen KV
AIMS Neurosci; 2021; 8(4):548-557. PubMed ID: 34877405
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. [Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases].
García Puig J; Mateos FA; Jiménez ML; Arcas J; Miranda ME; Oríz Vázquez J
Med Clin (Barc); 1994 May; 102(18):681-7. PubMed ID: 8028417
[TBL] [Abstract][Full Text] [Related]
15. Novel mutations in the human HPRT gene.
Nguyen KV; Naviaux RK; Paik KK; Nyhan WL
Nucleosides Nucleotides Nucleic Acids; 2011 Jun; 30(6):440-5. PubMed ID: 21780909
[TBL] [Abstract][Full Text] [Related]
16. Identification of novel mutations in the human HPRT gene.
Nguyen KV; Nyhan WL
Nucleosides Nucleotides Nucleic Acids; 2013; 32(3):155-60. PubMed ID: 23473102
[TBL] [Abstract][Full Text] [Related]
17. [Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].
Yamada Y
Nihon Rinsho; 2008 Apr; 66(4):687-93. PubMed ID: 18409516
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. HGPRT structural gene mutation in Lesch-Nyhan-syndrome as indicated by antigenic activity and reversion of the enzyme deficiency.
Strauss M; Lübbe L; Geissler E
Hum Genet; 1981; 57(2):185-8. PubMed ID: 7228031
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]