ArticleScientific reports2019
Cellular and animal models of skin alterations in the autism-related ADNP syndrome.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 32 citations in OpenAlex.
- Article
- A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome.Brain sciences · 2025Review
- ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case.Acta neuropathologica communications · 2024Article
- Moderate Physical Activity Increases the Expression of ADNP in Rat Brain.International journal of molecular sciences · 2024Article
- Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism.Clinical epigenetics · 2023Review
- Specific RNA m6A modification sites in bone marrow mesenchymal stem cells from the jawbone marrow of type 2 diabetes patients with dental implant failure.International journal of oral science · 2023Article
- Activity-Dependent Neuroprotective Protein (ADNP): An Overview of Its Role in the Eye.International journal of molecular sciences · 2022Review
- A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism.Orphanet journal of rare diseases · 2022Article
- Vineland Adaptive Behavior Scale in a Cohort of Four ADNP Syndrome Patients Implicates Age-Dependent Developmental Delays with Increased Impact of Activities of Daily Living.Journal of molecular neuroscience : MN · 2022Article
- Proximity labeling identifies a repertoire of site-specific R-loop modulators.Nature communications · 2022Article
- A label-free optical system with a nanohole array biosensor for discriminating live single cancer cells from normal cells.Nanophotonics (Berlin, Germany) · 2022Article
- Utilizing an Animal Model to Identify Brain Neurodegeneration-Related Biomarkers in Aging.International journal of molecular sciences · 2021Article
- ADNP prompts the cisplatin-resistance of bladder cancer via TGF-β-mediated epithelial-mesenchymal transition (EMT) pathway.Journal of Cancer · 2021Article
- Single Cell ADNP Predictive of Human Muscle Disorders: Mouse Knockdown Results in Muscle Wasting.Cells · 2020Article
- Age and Sex-Dependent ADNP Regulation of Muscle Gene Expression Is Correlated with Motor Behavior: Possible Feedback Mechanism with PACAP.International journal of molecular sciences · 2020Article
- Immune-modulatory Properties of the Octapeptide NAP inMicroorganisms · 2020Article
- Microbiota changes associated with ADNP deficiencies: rapid indicators for NAP (CP201) treatment of the ADNP syndrome and beyond.Journal of neural transmission (Vienna, Austria : 1996) · 2020Article
- The ADNP Syndrome and CP201 (NAP) Potential and Hope.Frontiers in neurology · 2020Review
- ADNP Upregulation Promotes Bladder Cancer Cell ProliferationFrontiers in oncology · 2020Article
- Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in ADNP have been recently associated with intellectual disability and autism spectrum disorder. However, the clinical features of patients with this syndrome are not fully identified, and no treatment currently exists for these patients. Here, we extended the ADNP syndrome phenotype describing skin abnormalities in both a patient with ADNP syndrome and an Adnp haploinsufficient mice. The patient displayed thin dermis, hyperkeratotic lesions in periarticular areas and delayed wound healing. Patient-derived skin keratinocytes showed reduced proliferation and increased differentiation. Additionally, detection of cell cycle markers indicated that mutant cells exhibited impaired cell cycle progression. Treatment of ADNP-deficient keratinocytes with the ADNP-derived NAP peptide significantly reduced the expression of differentiation markers. Sonography and immunofluorescence staining of epidermal layers revealed that the dermis was thinner in the patient than in a healthy control. Adnp haploinsufficient mice (Adnp
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