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Mutations in ADNP affect expression and subcellular localization of the protein.
Cappuyns E, Huyghebaert J, Vandeweyer G, Kooy RF. Cappuyns E, et al. Cell Cycle. 2018;17(9):1068-1075. doi: 10.1080/15384101.2018.1471313. Epub 2018 Jul 17. Cell Cycle. 2018. PMID: 29911927 Free PMC article.
Truncating de novo mutations in ADNP have been identified in patients with the Helsmoortel-Van der Aa syndrome. ...ADNP encloses a bipartite nuclear localization signal and we found mutations therein to stall the mutant protein within the cytoplasm. ...
Truncating de novo mutations in ADNP have been identified in patients with the Helsmoortel-Van der Aa syndrome. ...ADNP
Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome.
Grice ASB, Sloofman L, Levy T, Walker H, Ganesh G, de Los Santos MR, Armini P, Buxbaum JD, Kolevzon A, Kostic A, Breen MS. Grice ASB, et al. medRxiv [Preprint]. 2024 Jan 31:2024.01.29.24301949. doi: 10.1101/2024.01.29.24301949. medRxiv. 2024. PMID: 38352457 Free PMC article. Preprint.
Activity-dependent neuroprotective protein (ADNP) syndrome is a rare neurodevelopmental disorder resulting in intellectual disability, developmental delay and autism spectrum disorder (ASD) and is due to mutations in the ADNP gene. ...Moreover, they contribut …
Activity-dependent neuroprotective protein (ADNP) syndrome is a rare neurodevelopmental disorder resulting in intellectual dis …
Sex-and Region-Dependent Expression of the Autism-Linked ADNP Correlates with Social- and Speech-Related Genes in the Canary Brain.
Hacohen-Kleiman G, Moaraf S, Kapitansky O, Gozes I. Hacohen-Kleiman G, et al. J Mol Neurosci. 2020 Nov;70(11):1671-1683. doi: 10.1007/s12031-020-01700-x. Epub 2020 Sep 14. J Mol Neurosci. 2020. PMID: 32926339
The activity-dependent neuroprotective protein (ADNP) syndrome is an autistic-like disorder, instigated by mutations in ADNP. ...In spatial view, a sexually independent extensive form of expression was found for ADNP in the canary cerebrum (RNA in situ …
The activity-dependent neuroprotective protein (ADNP) syndrome is an autistic-like disorder, instigated by mutations in ADN
GENYOi004-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with autism-related ADNP syndrome carrying a pTyr719* mutation.
Montes R, Mollinedo P, Perales S, Gonzalez-Lamuño D, Ramos-Mejía V, Fernandez-Luna JL, Real PJ. Montes R, et al. Stem Cell Res. 2019 May;37:101446. doi: 10.1016/j.scr.2019.101446. Epub 2019 Apr 22. Stem Cell Res. 2019. PMID: 31035039 Free article.
ADNP syndrome is an intellectual disability associated with Autism spectrum disorder caused by mutations in ADNP. ...GENYOi004-A will be useful to evaluate ADNP syndrome alterations at early developmental stages....
ADNP syndrome is an intellectual disability associated with Autism spectrum disorder caused by mutations in ADNP. ...GE
Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.
Takenouchi T, Miwa T, Sakamoto Y, Sakaguchi Y, Uehara T, Takahashi T, Kosaki K. Takenouchi T, et al. Am J Med Genet A. 2017 Jun;173(6):1631-1634. doi: 10.1002/ajmg.a.38126. Epub 2017 Apr 13. Am J Med Genet A. 2017. PMID: 28407407
Heterozygous truncating mutations in ADNP are associated with a syndromic form of intellectual disability known as Helsmoortel-van der Aa syndrome. Among 17 previously reported patients with Helsmoortel-van der Aa syndrome, one patient exhibited blepha …
Heterozygous truncating mutations in ADNP are associated with a syndromic form of intellectual disability known as Helsmoortel …
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 protein with the func …
BACKGROUND: Helsmoortel-Van der Aa syndrome (HVDAS) is a rare genetic disorder caused by variants in the activity-dependent neuroprot …
NAP (Davunetide): The Neuroprotective ADNP Drug Candidate Penetrates Cell Nuclei Explaining Pleiotropic Mechanisms.
Ganaiem M, Gildor ND, Shazman S, Karmon G, Ivashko-Pachima Y, Gozes I. Ganaiem M, et al. Cells. 2023 Sep 11;12(18):2251. doi: 10.3390/cells12182251. Cells. 2023. PMID: 37759476 Free PMC article.
(1) Background: Recently, we showed aberrant nuclear/cytoplasmic boundaries/activity-dependent neuroprotective protein (ADNP) distribution in ADNP-mutated cells. This malformation was corrected upon neuronal differentiation by the ADNP-derived fragment drug c …
(1) Background: Recently, we showed aberrant nuclear/cytoplasmic boundaries/activity-dependent neuroprotective protein (ADNP) distrib …
Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.
Kosho T, Miyake N, Carey JC. Kosho T, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):241-51. doi: 10.1002/ajmg.c.31415. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169878 Review.
This issue of Seminars in Medical Genetics, American Journal of Medical Genetics Part C investigates the human diseases caused by mutations in the BAF complex (also known as the mammalian SWI/SNF complex) genes, particularly focusing on Coffin-Siris syndrome (CSS). CSS is …
This issue of Seminars in Medical Genetics, American Journal of Medical Genetics Part C investigates the human diseases caused by mutations …
101 results