ArticleAmerican journal of human genetics2017
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 2 of them syntheses that pooled it.
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Who cites it
50 citing papers in PubMed, 2 syntheses or guidelines pooled it, 73 citations in OpenAlex.
- Characteristics of Asian patients with Fibromuscular Dysplasia: a systematic review and meta-analysis.Hypertension research : official journal of the Japanese Society of Hypertension · 2025Pooled it
- The clinical and radiological cerebrovascular abnormalities associated with renovascular hypertension in children: a systematic review.Pediatric nephrology (Berlin, Germany) · 2022Pooled it
- SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections.European journal of human genetics : EJHG · 2019Trial
- INO80E Suppresses Oxidized LDL-Induced Endothelial Apoptosis Through HDAC1-Mediated Stabilization of YY1.Biomolecules · 2026Article
- Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.The Journal of clinical investigation · 2026Article
- A novel compound heterozygous YY1AP1 variant in Grange syndrome: importance of early signs in preventing life-threatening vascular complications.Journal of human genetics · 2026Article
- An Overview of Genetics of Moyamoya: BeyondInternational journal of molecular sciences · 2026Review
- The genetics of hypertension.Nature reviews. Nephrology · 2026Review
- A Family with Meester-Loeys Syndrome Caused by a Novel Missense Variant in theInternational journal of molecular sciences · 2025Article
- Immature Acta2Nature communications · 2025Article
- It Takes a Village of Chromatin Remodelers to Regulate rDNA Expression.International journal of molecular sciences · 2025Review
- Conformational switching of Arp5 subunit regulates INO80 chromatin remodeling.Nucleic acids research · 2025Article
- Precision genomic profiling in Gaucher disease: insights from atypical presentations.Frontiers in genetics · 2025Article
- Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.bioRxiv : the preprint server for biology · 2024Article
- Cerebral arteriopathies of childhood and stroke - A focus on systemic arteriopathies and pediatric fibromuscular dysplasia (FMD).Vascular medicine (London, England) · 2024Review
- Conformational switching of Arp5 subunit differentially regulates INO80 chromatin remodeling.bioRxiv : the preprint server for biology · 2024Article
- Epigenetic regulation ofAutophagy · 2024Review
- Fibromuscular Dysplasia: Three Cases to Highlight a Requirement for Surveillance Strategy Optimization.Cureus · 2023Article
- Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.Research square · 2023Article
- Nuclear Smooth Muscle α-actin Participates in Vascular Smooth Muscle Cell Differentiation.Nature cardiovascular research · 2023Article
Corrections and comments
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Authors and funding
21 authors at 11 institutions in 4 countries.
Funding
Abstract
Fibromuscular dysplasia (FMD) is a heterogeneous group of non-atherosclerotic and non-inflammatory arterial diseases that primarily involves the renal and cerebrovascular arteries. Grange syndrome is an autosomal-recessive condition characterized by severe and early-onset vascular disease similar to FMD and variable penetrance of brachydactyly, syndactyly, bone fragility, and learning disabilities. Exome-sequencing analysis of DNA from three affected siblings with Grange syndrome identified compound heterozygous nonsense variants in YY1AP1, and homozygous nonsense or frameshift YY1AP1 variants were subsequently identified in additional unrelated probands with Grange syndrome. YY1AP1 encodes yin yang 1 (YY1)-associated protein 1 and is an activator of the YY1 transcription factor. We determined that YY1AP1 localizes to the nucleus and is a component of the INO80 chromatin remodeling complex, which is responsible for transcriptional regulation, DNA repair, and replication. Molecular studies revealed that loss of YY1AP1 in vascular smooth muscle cells leads to cell cycle arrest with decreased proliferation and increased levels of the cell cycle regulator p21/WAF/CDKN1A and disrupts TGF-β-driven differentiation of smooth muscle cells. Identification of YY1AP1 mutations as a cause of FMD indicates that this condition can result from underlying genetic variants that significantly alter the phenotype of vascular smooth muscle cells.
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Registered trials
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