Results 11 to 20 of about 1,305 (131)

Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis [PDF]

Genes, 2021
Background: Activity dependent neuroprotective protein (ADNP) syndrome is one of the most common single-gene causes of autism spectrum disorder (ASD) and intellectual disability, however, the phenotypes remain poorly described. Here we examine the sensory reactivity phenotype in children and adolescents with ADNP syndrome.
Jessica Zweifach, Alexander Kolevzon, Joseph Buxbaum   +2 more
exaly   +5 more sources

The autism spectrum phenotype in ADNP syndrome [PDF]

Autism Research, 2018
Pathogenic disruptions to the activity‐dependent neuroprotector homeobox (ADNP) gene are among the most common heterozygous genetic mutations associated with autism spectrum disorders (ASDs). Individuals with ADNP disruptions share a constellation of medical and psychiatric features, including ASD, intellectual disability (ID), dysmorphic features, and
Tychele N Turner, Arianne S Wallace, Sandra Bedrosian-Sermone   +2 more
exaly   +5 more sources

Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients

Scientific Reports
Heterozygous de novo mutations in the Activity-Dependent Neuroprotective Homeobox (ADNP) gene underlie Helsmoortel-Van der Aa syndrome (HVDAS). Most of these mutations are situated in the last exon and we previously demonstrated escape from nonsense ...
Wim Vanden Berghe, Claudio Peter D'Incal, Kevin de Man   +2 more
exaly   +5 more sources

Microbiota changes associated with ADNP deficiencies: rapid indicators for NAP (CP201) treatment of the ADNP syndrome and beyond [PDF]

Journal of Neural Transmission, 2020
AbstractActivity-dependent neuroprotective protein (ADNP) and its protein snippet NAP (drug candidate CP201) regulate synapse formation and cognitive as well as behavioral functions, in part, through microtubule interaction. Given potential interactions between the microbiome and brain function, we now investigated the potential effects of the ADNP ...
Markus Heimesaat, Illana Gozes, Stefan Bereswill   +2 more
exaly   +5 more sources

Transcriptomic Analysis Uncovers an Unfolded Protein Response in ADNP Syndrome [PDF]

Molecular and Cellular Biology
Chromatin regulators are frequently mutated in autism spectrum disorders, but in most cases how they cause disease is unclear. Mutations in the activity dependent neuroprotective protein (ADNP) causes ADNP syndrome, which is characterized by intellectual deficiency and developmental delays.
Tomoyo Sawada, Guo-Li Ming, Kavitha Sarma   +2 more
exaly   +4 more sources

ADNP missense variant p.C687R disrupts chromatin regulation and GABAergic differentiation in Helsmoortel-Van der Aa syndrome. [PDF]

Mol Autism
Background Activity-dependent neuroprotective protein (ADNP) is a critical regulator of neurodevelopment, and most pathogenic variants reported in Helsmoortel–Van der Aa syndrome (HVDAS) are truncating variants.
Chen Q, Liu X, Wu M, Sun D, Ding X, Zhou M, Peng W, Cheng Y, Xue B, Tang N, Xu G, Tai Y, Xu Q, Xiong M, Jiang Y.   +14 more
europepmc   +3 more sources

Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism

Clinical Epigenetics, 2023
Background Individuals affected with autism often suffer additional co-morbidities such as intellectual disability. The genes contributing to autism cluster on a relatively limited number of cellular pathways, including chromatin remodeling.
Claudio Peter D’Incal, Kirsten Esther Van Rossem, Kevin De Man, Anthony Konings, Anke Van Dijck, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Illana Gozes, Wim Vanden Berghe, R. Frank Kooy   +10 more
doaj   +4 more sources

Helsmoortel–van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report

Frontiers in Pediatrics, 2023
BackgroundHelsmoortel–van der Aa syndrome, also known as ADNP syndrome, is a condition that causes developmental delay, language impairment, autism spectrum, and variable extraneurologic features.
Li-juan Chen, Zhong-min You, Wen-hong Chen, Si Yang, Chun-chen Feng, Hai-yong Wang, Ting Wang, Yuan-yuan Zhu   +7 more
doaj   +3 more sources

Generation of a human induced pluripotent stem cell line (FDIBSi001-A) from a patient with ADNP syndrome carrying ADNP mutation (c. 2059 T>C)

Stem Cell Research
ADNP syndrome is a neurodevelopmental disorder characterized by autism, intellectual disability, and other physical and behavioral health manifestations. Mutations in ADNP gene is responsible for ADNP syndrome.
Wu Mengnan, Cheng Yan, Xu Qiong, Xiong Man   +3 more
doaj   +3 more sources

Fc effector functions in RNA viral infections: mechanisms of antiviral immunity and implications for vaccine design. [PDF]

Front Immunol
Neutralizing antibodies (NAbs) have long been the principal correlate of antiviral protection. Evidence now indicates that antibody Fc-mediated effector functions play indispensable and context-dependent roles in antiviral immunity.
Zhang J, Li C, Wu Y, Wang L, Yu J, Wang A, Kong W, Ning M, Chen J, Chen Y.   +9 more
europepmc   +2 more sources