Associated Papers
A robust bacterial high-throughput screening assay to identify pharmacological chaperones targeting human homogentisate 1,2-dioxygenase missense variants in alkaptonuria.
Lequeue S et al.
European Journal of Pharmacology, 2025
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Clinical presentation of 13 children with alkaptonuria.
Kujawa MJ et al.
Journal of Inherited Metabolic Disease, 2023
A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria.
Lequeue S et al.
Scientific Reports, 2022
Analysis of the Phenotype Differences in Siblings with Alkaptonuria.
Zatkova A et al.
Metabolites, 2022
Alkaptonuria in Russia.
Soltysova A et al.
European Journal of Human Genetics : Ejhg, 2022
A novel deep intronic variant strongly associates with Alkaptonuria.
Lai CY et al.
Npj Genomic Medicine, 2021
Machine learning application for patient stratification and phenotype/genotype investigation in a rare disease.
Spiga O et al.
Briefings in Bioinformatics, 2021
Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles.
Brodie SA et al.
Cold Spring Harbor Molecular Case Studies, 2021
Alkaptonuria in Russia: mutational spectrum and novel variants.
Bychkov I et al.
European Journal of Medical Genetics, 2021
Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase.
Sen Gupta PS et al.
Journal of Biomolecular Structure & Dynamics, 2021
Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan.
Khalil R et al.
Biomed Research International, 2021
Presentation of 14 alkaptonuria patients from Turkey.
Akbaba AI et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.
Ascher DB et al.
European Journal of Human Genetics : Ejhg, 2019
Single Amino Acid Substitution in Homogentisate Dioxygenase Affects Melanin Production in Bacillus thuringiensis.
Yang W et al.
Frontiers in Microbiology, 2018
mCSM-lig: quantifying the effects of mutations on protein-small molecule affinity in genetic disease and emergence of drug resistance.
Pires DE et al.
Scientific Reports, 2016
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
Nemethova M et al.
European Journal of Human Genetics : Ejhg, 2016
Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations.
Usher JL et al.
Jimd Reports, 2015
Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.
Al-sbou M
Rheumatology International, 2012
Computational methods to work as first-pass filter in deleterious SNP analysis of alkaptonuria.
Magesh R et al.
Thescientificworldjournal, 2012
Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.
Zatkova A et al.
Jimd Reports, 2012
Familiar ochronotic arthropathy-caused by a gene mutation traced three hundred years.
Tóth K et al.
Joint Bone Spine, 2010
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Vilboux T et al.
Human Mutation, 2009
Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families.
Ladjouze-Rezig A et al.
Joint Bone Spine, 2006
Rapid detection methods for five HGO gene mutations causing alkaptonuria.
Zatkova A et al.
Clinical Genetics, 2003
Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.
Uyguner O et al.
Journal of Inherited Metabolic Disease, 2003
Natural history of alkaptonuria.
Phornphutkul C et al.
The New England Journal of Medicine, 2002
Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene.
Goicoechea De Jorge E et al.
Journal of Medical Genetics, 2002
Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.
Srsen S et al.
Molecular Genetics and Metabolism, 2002
High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.
Zatková A et al.
American Journal of Human Genetics, 2000
Structural and functional analysis of mutations in alkaptonuria.
Rodríguez JM et al.
Human Molecular Genetics, 2000
Incidence of germline hMLH1 and hMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population.
Ravnik-Glavac M et al.
Journal of Medical Genetics, 2000
Mutational analysis of the HGO gene in Finnish alkaptonuria patients.
Beltrán-Valero de Bernabé D et al.
Journal of Medical Genetics, 1999
Allelic heterogeneity of alkaptonuria in Central Europe.
Müller CR et al.
European Journal of Human Genetics : Ejhg, 1999
Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).
Beltrán-Valero de Bernabé D et al.
American Journal of Human Genetics, 1999
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.
Beltrán-Valero de Bernabé D et al.
American Journal of Human Genetics, 1998
Molecular defects in alkaptonuria.
Gehrig A et al.
Cytogenetics and Cell Genetics, 1997