ArticleHuman mutation2009
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Article in Human mutation, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.
- Comprehensive meta-analysis reveals distinct gene expression signatures of MASLD progression.Life science alliance · 2024Pooled it
- Quantifying the Functional Gap in Alkaptonuria Through Machine Learning and Clinical Data Integration.Bioengineering (Basel, Switzerland) · 2026Article
- Variations in DNA Methylation Are Landmarks of Freshwater Adaptation in Three-Spined Sticklebacks.International journal of molecular sciences · 2026Article
- Total hip arthroplasty in patients with alkaptonuria: a case report.Frontiers in surgery · 2026Article
- Molecular Analysis of the HGD Gene in 9 Families With Alkaptonuric Ochronosis in Iran and Identification of Two Novel Variants.Molecular genetics & genomic medicine · 2025Article
- An anatomical investigation of alkaptonuria: Novel insights into ochronosis of cartilage and bone.Journal of anatomy · 2025Article
- Alkaptonuria: Clinical Spectrum of a Diagnosed Case in Bahrain With a Literature Review.Cureus · 2025Article
- Ochronotic Arthropathy and Alkaptonuria (Ochronosis): Case Report.Revista brasileira de ortopedia · 2024Article
- Review
- Alkaptonuria.Nature reviews. Disease primers · 2024Review
- Ochronotic Chondropathy: A Case Report.Biomedicines · 2023Article
- Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria.Scientific reports · 2023Article
- [Research advances in pharmacotherapy for rare diseases in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Review
- A temporal single cell transcriptome atlas of zebrafish anterior segment development.Scientific reports · 2023Article
- Article
- Analysis of the Phenotype Differences in Siblings with Alkaptonuria.Metabolites · 2022Article
- Computational Approaches Integrated in a Digital Ecosystem Platform for a Rare Disease.Frontiers in molecular medicine · 2022Review
- A novel deep intronic variant strongly associates with Alkaptonuria.NPJ genomic medicine · 2021Article
- 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.Clinical rheumatology · 2020Article
- Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease.Orphanet journal of rare diseases · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder, characterized by accumulation of homogentisic acid, leading to darkened urine, pigmentation of connective tissue (ochronosis), joint and spine arthritis, and destruction of cardiac valves. AKU is due to mutations in the homogentisate dioxygenase gene (HGD) that converts homogentisic acid to maleylacetoacetic acid in the tyrosine catabolic pathway. Here we report a comprehensive mutation analysis of 93 patients enrolled in our study, as well as an extensive update of all previously published HGD mutations associated with AKU. Within our patient cohort, we identified 52 HGD variants, of which 22 were novel. This yields a total of 91 identified HGD variations associated with AKU to date, including 62 missense, 13 splice site, 10 frameshift, 5 nonsense, and 1 no-stop mutation. Most HGD variants reside in exons 3, 6, 8, and 13. We assessed the potential effect of all missense variations on protein function, using five bioinformatic tools specifically designed for interpretation of missense variants (SIFT, POLYPHEN, PANTHER, PMUT, and SNAP). We also analyzed the potential effect of splice-site variants using two different tools (BDGP and NetGene2). This study provides valuable resources for molecular analysis of alkaptonuria and expands our knowledge of the molecular basis of this disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.