Associated Papers
Modeling rare genetic disease with gene-edited induced pluripotent stem cells: relevance of the starting stock line.
Dinasarapu AR et al.
Stem Cells Translational Medicine, 2025
Case report: Whole exome sequencing identifies a novel variant in the HPRT1 gene in a male with developmental delay.
Zheng H et al.
Frontiers in Genetics, 2025
Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation.
Li Y et al.
Stem Cell Research, 2024
Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing.
Jang G et al.
Molecular Therapy. Nucleic Acids, 2023
Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients.
Li L et al.
Frontiers in Genetics, 2022
Case report: Early-onset renal failure as presenting sign of Lesch-Nyhan disease in infancy.
Yang L et al.
Frontiers in Pediatrics, 2022
Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch-Nyhan syndrome.
AlBakheet A et al.
Frontiers in Genetics, 2022
Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells.
Bell S et al.
Stem Cell Reports, 2021
Induced pluripotent stem cells from subjects with Lesch-Nyhan disease.
Sutcliffe DJ et al.
Scientific Reports, 2021
[Generation of cell strains containing point mutations in HPRT1 by CRISPR/Cas9].
Zhang K et al.
Yi Chuan = Hereditas, 2019
Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.
Fu R et al.
Molecular Genetics and Metabolism, 2015
Prenatal diagnosis based on HPRT1 gene mutation in a Lesch-Nyhan family.
Liu N et al.
Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology, 2015
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Fu R et al.
Brain : a Journal of Neurology, 2014
Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.
Sampat R et al.
Human Genetics, 2011
Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers.
de Gemmis P et al.
Mutation Research, 2010
Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations.
Jurecka A et al.
Journal of Inherited Metabolic Disease, 2008
Delineation of the motor disorder of Lesch-Nyhan disease.
Jinnah HA et al.
Brain : a Journal of Neurology, 2006
A comparison of somatic mutational spectra in healthy study populations from Russia, Sweden and USA.
Noori P et al.
Carcinogenesis, 2005
Accumulation of somatic mutations in proliferating T cell clones from children treated for leukemia.
Finette BA et al.
Leukemia, 2001
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families.
Torres RJ et al.
Human Mutation, 2000
Spontaneous and chemically induced point mutations in HPRT cDNA of the metabolically competent human lymphoblastoid cell line, MCL-5.
Krause G et al.
Mutation Research, 1999
Transition mutations at CpG dinucleotides are the most frequent in vivo spontaneous single-based substitution mutation in the human HPRT gene.
O'Neill JP et al.
Environmental and Molecular Mutagenesis, 1998
Somatic cell mutations in cancer epidemiology.
Albertini RJ et al.
Iarc Scientific Publications, 1997
International Commission for Protection Against Environmental Mutagens and Carcinogens. Working paper no. 3. Somatic mutant frequency, mutation rates and mutational spectra in the human population in vivo.
Cole J et al.
Mutation Research, 1994
Screening for molecular pathologies in Lesch-Nyhan syndrome.
Boyd M et al.
Human Mutation, 1993
The Study on the Clinical Phenotype and Function of HPRT1 Gene.
Guo M et al.
Child Neurology Open, 0