Literature DB >> 4829193

Observations on the growth in vitro of myeloid progenitor cells and fibroblasts from hemizygotes and heterozygotes for "complete" and "partial" hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, and their relevance to the pathogenesis of brain damage in the Lesch-Nyhan syndrome.

R O McKeran, A Howell, T M Andrews, R W Watts, C F Arlett.   

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Year:  1974        PMID： 4829193     DOI： 10.1016/0022-510x(74)90245-7

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  10 in total

1.  Gender-specific frequency of background somatic mutations at the hypoxanthine phosphoribosyltransferase locus in cord blood T lymphocytes from preterm newborns.

Authors:  M Yoshioka; P M Vacek; T Poseno; R Silver; B A Finette
Journal:  Proc Natl Acad Sci U S A       Date:  1999-01-19       Impact factor: 11.205

2.  Use of phytohaemagglutinin stimulated lymphocytes to study effects of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency on polynucleotide and protein synthesis in the Lesch-Nyhan syndrome.

Authors:  R O McKeran; R W Watts
Journal:  J Med Genet       Date:  1976-04       Impact factor: 6.318

Review 3.  Molecular variation in relation to purine metabolism.

Authors:  R W Watts
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

4.  Rescuing compounds for Lesch-Nyhan disease identified using stem cell-based phenotypic screening.

Authors:  Valentin Ruillier; Johana Tournois; Claire Boissart; Marie Lasbareilles; Gurvan Mahé; Laure Chatrousse; Michel Cailleret; Marc Peschanski; Alexandra Benchoua
Journal:  JCI Insight       Date:  2020-02-27

5.  Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man.

Authors:  R Curto; E O Voit; M Cascante
Journal:  Biochem J       Date:  1998-02-01       Impact factor: 3.857

6.  Lesch-Nyhan syndrome and its pathogenesis: normal nicotinamide-adenine dinucleotide but reduced ATP concentrations that correlate with reduced poly(ADP-ribose) synthetase activity in HPRT-deficient lymphoblasts.

Authors:  G M McCreanor; R A Harkness
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 7.  Hypoxanthine-guanine phosphoribosyl transferase deficiency.

Authors:  C H de Bruyn
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

8.  Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells.

Authors:  M Hakoda; Y Hirai; M Akiyama; H Yamanaka; C Terai; N Kamatani; S Kashiwazaki
Journal:  Hum Genet       Date:  1995-12       Impact factor: 4.132

9.  A case of ataxia telangiectasia with unbalanced glucose 6-phosphate dehydrogenase mosaicism in the granulocytic/monocytic lineages.

Authors:  A M Ferraris; C Melani; L Canepa; T Meloni; G Forteleoni; G F Gaetani
Journal:  Am J Hum Genet       Date:  1987-01       Impact factor: 11.025

10.  Induced pluripotent stem cells from subjects with Lesch-Nyhan disease.

Authors:  Diane J Sutcliffe; Ashok R Dinasarapu; Jasper E Visser; Joery den Hoed; Fatemeh Seifar; Piyush Joshi; Irene Ceballos-Picot; Tejas Sardar; Ellen J Hess; Yan V Sun; Zhexing Wen; Michael E Zwick; H A Jinnah
Journal:  Sci Rep       Date:  2021-04-19       Impact factor: 4.379
  10 in total

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