ReviewInternational journal of molecular sciences2022
Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects.
Review in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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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.
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Who cites it
13 citing papers in PubMed, 45 citations in OpenAlex.
- Biomarkers of Cardiovascular Stress: A Historical Review.Journal of cardiovascular development and disease · 2026Review
- Embryonic Phase Transition/Separation on Hepatic Liquid Crystal Droplets Is Essential for Liver Development.Biology · 2026Article
- Genome-Wide Association Study of Genetic Variants Associated with Serum Albumin Levels in Chinese Winter Sports Athletes.Biology · 2026Article
- Genomic diagnosis and multisystem phenotyping in pediatric congenital analbuminemia: clinical, coagulation, and immune signatures.Frontiers in pediatrics · 2026Article
- Improved albumin binding properties of Isoguvacine upon esterification as characterized by biophysical and computational tools.Scientific reports · 2025Article
- Article
- Essential oil-derived compounds target core fatigue-related genes: A network pharmacology and molecular Docking approach.PloS one · 2025Article
- Computational Study of Molecular Mechanism for the Involvement of Human Serum Albumin in the Renin-Angiotensin-Aldosterone System.International journal of molecular sciences · 2024Article
- Incidental detection of hereditary bisalbuminemia in a patient with positive DAT coombs: A case-based review.Metabolism open · 2024Review
- Expression genome-wide association study identifies key regulatory variants enriched with metabolic and immune functions in four porcine tissues.BMC genomics · 2024Article
- Molecular Basis for the Involvement of Mammalian Serum Albumin in the AGE/RAGE Axis: A Comprehensive Computational Study.International journal of molecular sciences · 2024Article
- Human Serum Albumin: From Molecular Aspects to Biotechnological Applications.International journal of molecular sciences · 2023Article
- Role of sex hormone-binding globulin in the free hormone hypothesis and the relevance of free testosterone in androgen physiology.Cellular and molecular life sciences : CMLS · 2022Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
The human albumin gene, the most abundant serum protein, is located in the long arm of chromosome 4, near the centromere, position 4q11-3. It is divided by 14 intervening introns into 15 exons, the last of which is untranslated. To date, 74 nucleotide substitutions (mainly missense) have been reported, determining the circulating variants of albumin or pre-albumin. In a heterozygous state, this condition is known as alloalbuminaemia or bisalbuminaemia (OMIM # 103600). The genetic variants are not associated with disease, neither in the heterozygous nor in the homozygous form. Only the variants resulting in familial dysalbuminaemic hyperthyroxinaemia and hypertriiodothyroninaemia are of clinical relevance because affected individuals are at risk of inappropriate treatment or may have adverse drug effects. In 28 other cases, the pathogenic variants (mainly affecting splicing, nonsense, and deletions), mostly in the homozygous form, cause a premature stop in the synthesis of the protein and lead to the condition known as congenital analbuminaemia. In this review, we will summarize the current knowledge of genetic and molecular aspects, functional consequences and potential therapeutic uses of the variants. We will also discuss the molecular defects resulting in congenital analbuminaemia, as well as the biochemical and clinical features of this rare condition.
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