ArticleHuman mutation2014
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
Article in Human mutation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 3 of them syntheses that pooled it.
What it found
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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.
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Who cites it
39 citing papers in PubMed, 3 syntheses or guidelines pooled it, 78 citations in OpenAlex.
- Large-scale multi-omics analyses in Hispanic/Latino populations identify genes for cardiometabolic traits.Nature communications · 2025Pooled it
- TUB gene expression in hypothalamus and adipose tissue and its association with obesity in humans.International journal of obesity (2005) · 2018Pooled it
- Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline.The Journal of clinical endocrinology and metabolism · 2017 · on this mapGuideline
- The genetics of obesity: aetiology, prevention and therapy.Nature metabolism · 2026Review
- Characterization of Usher Syndrome Type 2-Associated Proteins in the Retina via Affinity Purification-Mass Spectrometry.Molecular & cellular proteomics : MCP · 2026Article
- Navigating the Strengths and Constraints of Mouse Models in Obesity Research.Endocrinology · 2025Review
- Tectorial membrane: structure, function, and its implications for hearing loss.Frontiers in neurology · 2025Review
- Genetic Landscape of Obesity in Children: Research Advances and Prospects.Journal of obesity · 2025Review
- Arcuate Nucleus of the Hypothalamus: Anatomy, Physiology, and Diseases.Experimental neurobiology · 2023Review
- Genetics and epigenetics in the obesity phenotyping scenario.Reviews in endocrine & metabolic disorders · 2023Review
- Phosphoinositides in New Spaces.Cold Spring Harbor perspectives in biology · 2023Review
- A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family.BMC medical genomics · 2023Article
- Neuronal primary cilia integrate peripheral signals with metabolic drives.Frontiers in physiology · 2023Review
- Biallelic InactivatingInternational journal of molecular sciences · 2022Article
- Two cooperative binding sites sensitize PI(4,5)PScience advances · 2022Article
- MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders.Genes · 2022Article
- Reviewed and updated Algorithm for Genetic Characterization of Syndromic Obesity Phenotypes.Current genomics · 2022Review
- Mechanisms of Weight Control by Primary Cilia.Molecules and cells · 2022Review
- Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.NPJ genomic medicine · 2022Article
- Comprehensive Profiling of Tubby-Like Proteins in Soybean and Roles of theFrontiers in plant science · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
Abstract
Inherited retinal dystrophies are a major cause of childhood blindness. Here, we describe the identification of a homozygous frameshift mutation (c.1194_1195delAG, p.Arg398Serfs*9) in TUB in a child from a consanguineous UK Caucasian family investigated using autozygosity mapping and whole-exome sequencing. The proband presented with obesity, night blindness, decreased visual acuity, and electrophysiological features of a rod cone dystrophy. The mutation was also found in two of the proband's siblings with retinal dystrophy and resulted in mislocalization of the truncated protein. In contrast to known forms of retinal dystrophy, including those caused by mutations in the tubby-like protein TULP-1, loss of function of TUB in the proband and two affected family members was associated with early-onset obesity, consistent with an additional role for TUB in energy homeostasis.
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What OpenQuestion holds
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.