Associated Papers
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells.
Bell S et al.
Stem Cell Reports, 2021
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
GLUT9 influences uric acid concentration in patients with Lesch-Nyhan disease.
Torres RJ et al.
International Journal of Rheumatic Diseases, 2018
Lesch-Nyhan Syndrome in a Chinese Family with Mutation in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene.
Huang J et al.
Clinical Laboratory, 2018
Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.
Nguyen KV et al.
Nucleosides, Nucleotides & Nucleic Acids, 2017
Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.
Nguyen KV et al.
Nucleosides, Nucleotides & Nucleic Acids, 2016
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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Functional consequences of somatic mutations in cancer using protein pocket-based prioritization approach.
Vuong H et al.
Genome Medicine, 2014
Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Ceballos-Picot I et al.
Molecular Genetics and Metabolism, 2013
Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation.
Sapag A et al.
Joint Bone Spine, 2013
Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.
Fu R et al.
The Journal of Biological Chemistry, 2012
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
Attenuated variants of Lesch-Nyhan disease.
Jinnah HA et al.
Brain : a Journal of Neurology, 2010
Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients.
Laróvere LE et al.
Nucleosides, Nucleotides & Nucleic Acids, 2007
A comparison of somatic mutational spectra in healthy study populations from Russia, Sweden and USA.
Noori P et al.
Carcinogenesis, 2005
Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus.
Duan J et al.
Human Mutation, 2004
Accumulation of somatic mutations in proliferating T cell clones from children treated for leukemia.
Finette BA et al.
Leukemia, 2001
A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.
Liu HX et al.
Nature Genetics, 2001
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.
Jinnah HA et al.
Mutation Research, 2000
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families.
Torres RJ et al.
Human Mutation, 2000
Splicing mutations at the HPRT locus in human T-lymphocytes in vivo.
Osterholm AM et al.
Environmental and Molecular Mutagenesis, 1998
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