Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2016 2
2017 6
2018 9
2019 13
2020 11
2021 6
2022 12
2023 10
2024 17
2025 13
2026 8

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

96 results

Results by year

Filters applied: . Clear all
Page 5
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.
Levine J, Hakim F, Kooy RF, Gozes I. Levine J, et al. J Mol Neurosci. 2022 Aug;72(8):1531-1546. doi: 10.1007/s12031-022-02048-0. Epub 2022 Aug 3. J Mol Neurosci. 2022. PMID: 35920977
Heterozygous, de novo ADNP mutations cause the ADNP syndrome. Here, to evaluate natural history of the syndrome, mothers of two ADNP syndrome boys aged 6 and a half and two adults aged 27 years (man and woman) were subjected to Vineland III questionnai …
Heterozygous, de novo ADNP mutations cause the ADNP syndrome. Here, to evaluate natural history of the syndrome, mothers of tw …
ADNP promotes neural differentiation by modulating Wnt/β-catenin signaling.
Sun X, Peng X, Cao Y, Zhou Y, Sun Y. Sun X, et al. Nat Commun. 2020 Jun 12;11(1):2984. doi: 10.1038/s41467-020-16799-0. Nat Commun. 2020. PMID: 32533114 Free PMC article.
ADNP (Activity Dependent Neuroprotective Protein) is a neuroprotective protein whose aberrant expression has been frequently linked to neural developmental disorders, including the Helsmoortel-Van der Aa syndrome (also called the ADNP …
ADNP (Activity Dependent Neuroprotective Protein) is a neuroprotective protein whose aberrant expression has been frequently linked to neura …
Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males.
Levine J, Lobyntseva A, Shazman S, Hakim F, Gozes I. Levine J, et al. J Mol Neurosci. 2024 Jan 29;74(1):15. doi: 10.1007/s12031-024-02189-4. J Mol Neurosci. 2024. PMID: 38282129
Activity-dependent neuroprotective protein (ADNP) is essential for neurodevelopment and de novo mutations in ADNP cause the ADNP syndrome. From brain pathologies point of view, tauopathy has been demonstrated at a young age, implying stunted development coupled with …
Activity-dependent neuroprotective protein (ADNP) is essential for neurodevelopment and de novo mutations in ADNP cause the ADNP s …
Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome.
D'Incal CP, Annear DJ, Elinck E, van der Smagt JJ, Alders M, Dingemans AJM, Mateiu L, de Vries BBA, Vanden Berghe W, Kooy RF. D'Incal CP, et al. Eur J Hum Genet. 2024 Jun;32(6):630-638. doi: 10.1038/s41431-024-01556-4. Epub 2024 Feb 29. Eur J Hum Genet. 2024. PMID: 38424297 Free PMC article.
Mutations in ADNP result in Helsmoortel-Van der Aa syndrome. Here, we describe the first de novo intronic deletion, affecting the splice-acceptor site of the first coding ADNP exon in a five-year-old girl with developmental delay and autism. Whe …
Mutations in ADNP result in Helsmoortel-Van der Aa syndrome. Here, we describe the first de novo intronic …
Clinical impact and in vitro characterization of ADNP variants in pediatric patients.
Ge C, Tian Y, Hu C, Mei L, Li D, Dong P, Zhang Y, Li H, Sun D, Peng W, Xu X, Jiang Y, Xu Q. Ge C, et al. Mol Autism. 2024 Jan 22;15(1):5. doi: 10.1186/s13229-024-00584-7. Mol Autism. 2024. PMID: 38254177 Free PMC article.
BACKGROUND: Helsmoortel-Van der Aa syndrome (HVDAS) is a rare genetic disorder caused by variants in the activity-dependent neuroprotector homeobox (ADNP) gene; hence, it is also called ADNP syndrome. ADNP is a multitasking …
BACKGROUND: Helsmoortel-Van der Aa syndrome (HVDAS) is a rare genetic disorder caused by variants in the …
SH3- and actin-binding domains connect ADNP and SHANK3, revealing a fundamental shared mechanism underlying autism.
Ivashko-Pachima Y, Ganaiem M, Ben-Horin-Hazak I, Lobyntseva A, Bellaiche N, Fischer I, Levy G, Sragovich S, Karmon G, Giladi E, Shazman S, Barak B, Gozes I. Ivashko-Pachima Y, et al. Mol Psychiatry. 2022 Aug;27(8):3316-3327. doi: 10.1038/s41380-022-01603-w. Epub 2022 May 10. Mol Psychiatry. 2022. PMID: 35538192
De novo heterozygous mutations in activity-dependent neuroprotective protein (ADNP) cause autistic ADNP syndrome. ADNP mutations impair microtubule (MT) function, essential for synaptic activity. ...
De novo heterozygous mutations in activity-dependent neuroprotective protein (ADNP) cause autistic ADNP syndrome. ADNP …
Single Cell ADNP Predictive of Human Muscle Disorders: Mouse Knockdown Results in Muscle Wasting.
Kapitansky O, Karmon G, Sragovich S, Hadar A, Shahoha M, Jaljuli I, Bikovski L, Giladi E, Palovics R, Iram T, Gozes I. Kapitansky O, et al. Cells. 2020 Oct 19;9(10):2320. doi: 10.3390/cells9102320. Cells. 2020. PMID: 33086621 Free PMC article.
Activity-dependent neuroprotective protein (ADNP) mutations are linked with cognitive dysfunctions characterizing the autistic-like ADNP syndrome patients, who also suffer from delayed motor maturation. We thus hypothesized that ADNP is deregulated in versatile myop …
Activity-dependent neuroprotective protein (ADNP) mutations are linked with cognitive dysfunctions characterizing the autistic-like ADNP …
Activity-dependent neuroprotective protein (ADNP)-end-binding protein (EB) interactions regulate microtubule dynamics toward protection against tauopathy.
Ivashko-Pachima Y, Gozes I. Ivashko-Pachima Y, et al. Prog Mol Biol Transl Sci. 2021;177:65-90. doi: 10.1016/bs.pmbts.2020.07.008. Epub 2020 Aug 14. Prog Mol Biol Transl Sci. 2021. PMID: 33453943 Review.
ADNP has been found to be mutated in autism, with an estimated prevalence of 0.17% (together, these autism cases now constitute ADNP syndrome cases) and our recent results showed somatic mutations in ADNP in Alzheimer's disease brains correlating with tauopathy. ...
ADNP has been found to be mutated in autism, with an estimated prevalence of 0.17% (together, these autism cases now constitute ADNP …
Introducing ADNP and SIRT1 as new partners regulating microtubules and histone methylation.
Hadar A, Kapitansky O, Ganaiem M, Sragovich S, Lobyntseva A, Giladi E, Yeheskel A, Avitan A, Vatine GD, Gurwitz D, Ivashko-Pachima Y, Gozes I. Hadar A, et al. Mol Psychiatry. 2021 Nov;26(11):6550-6561. doi: 10.1038/s41380-021-01143-9. Epub 2021 May 10. Mol Psychiatry. 2021. PMID: 33967268
As such, de novo mutations in ADNP lead to the autistic ADNP syndrome and somatic ADNP mutations may drive Alzheimer's disease (AD) tauopathy. ...
As such, de novo mutations in ADNP lead to the autistic ADNP syndrome and somatic ADNP mutations may drive Alzheimer's disease …
96 results