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in patients with intellectual disability, autism spectrum disorder and features suggestive of Noonan syndrome should have DNA analysis for the ADNP gene if the Noonan syndrome panel failed to identify a specific mutation.
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The role of ADNP in autophagy, and in autism, schizophrenia and Alzheimer's disease is described.
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Our findings indicate that ADNP is a tumor suppressor and promising prognostic marker, and that ketamine treatment with ADNP induction is a potential therapeutic approach that may add benefit to current treatment protocols for patients with colorectal cancer
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From a clinical standpoint, a differential diagnosis of patients with blepharophimosis should include ADNP mutations in addition to blepharophimosis ptosis epicanthus inversus syndrome, especially when intellectual disability is present
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The parents of 44/54 ADNP-mutated children reported an almost full erupted dentition by 1 year of age, including molars and only 10 of the children had teeth within the normal developmental time range.
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SHANK3, CHD8, and ADNP had distinctly higher scores than all other genes in the dataset describing the genes associated with autism spectrum disorders.
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The study identified intratumoral heterogeneity (ITH) of the ADNP mutations in colorectal cancers, suggesting that ADNP mutations occurred during tumor progression rather than as an early event. The generation of ITH may influence on clinical outcome of the cancer patients.
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These findings demonstrate that the down-regulation of protein ADNP is an early pathological alteration and may contribute to dopaminergic neurodegeneration in Parkinson's disease
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This review covers the myriad of important ADNP-protein interactions and glimpse at their potential meaning in autism, schizophrenia and Alzheimer's disease. [review]
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ADNP expression was increased in male hippocampus samples compared to female samples.
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Mutations in the ADNP gene cause syndromic autism.Ample evidence exists that ADNP is of key importance for proper functioning of the nBAF complex.
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This study showed ADNP that deregulated in postmortem hippocampal samples from schizophrenia patients, but that now showed a significantly increased expression in lymphocytes from related patients.
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Ten patients with autism spectrum disorders and other shared clinical characteristics, including intellectual disability and facial dysmorphisms caused by a mutation in ADNP, a transcription factor involved in the SWI/SNF remodeling complex.
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Chromatin immunoprecipitation demonstrates the ability of ADNP to bind to its own promoter, consistent with its action as a repressor of both promoter-supported and endogenous ADNP expression.
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Our results suggested that ADNP may play an important role in slowing the progression of clinical symptoms of AD.
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In the prefrontal cortex of schizophrenia patients the correlation between ADNP and ADNP2 mRNA levels was apparently higher than in the hippocampus (r=0.854, p<0.001), but did not reach a significant difference (p=0.25).
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ADNP is expressed in many immune system cells. ADNP mRNA is reduced in PBMCs in MS. The peptide NAP, which plays an important role in neuroprotection, has potential immunomodulatory properties.
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Activity-dependent neuroprotective protein constitutes a novel element in the SWI/SNF chromatin remodeling complex.
