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
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Gene expression & biochemical analysis in alkaptonuria caused by a founder pathogenic variant across different age groups from India.
Abraham SSC et al.
The Indian Journal of Medical Research, 2024
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
Machine learning application for patient stratification and phenotype/genotype investigation in a rare disease.
Spiga O et al.
Briefings in Bioinformatics, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 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
Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India.
Danda S et al.
Clinical Rheumatology, 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
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
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
An update on molecular genetics of Alkaptonuria (AKU).
Zatkova A
Journal of Inherited Metabolic Disease, 2011
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
Natural history of alkaptonuria.
Phornphutkul C et al.
The New England Journal of Medicine, 2002