Results 31 to 40 of about 1,305 (131)

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP [PDF]

Nature Genetics, 2014
Despite the high heritability of autism spectrum disorders (ASD), characterized by persistent deficits in social communication and interaction and restricted, repetitive patterns of behavior, interests or activities, a genetic diagnosis can be established in only a minority of patients.
Helsmoortel, C., van Silfhout, A.T., van Silfhout, A.T., Coe, B.P., Vandeweyer, G., Rooms, L., van den Ende, J., Schuurs-Hoeijmakers, J.H.M., Schuurs-Hoeijmakers, J.H.M., Marcelis, C.L.M., Marcelis, C.L.M., Willemsen, M.H., Willemsen, M.H., Willemsen, M.H., Vissers, L.E.L.M., Vissers, L.E.L.M., Yntema, H.G., Yntema, H.G., Bakshi, M., Wilson, M., Witherspoon, K.T., Malmgren, H., Nordgren, A., Anneren, G., Fichera, M., Bosco, P., Romano, C, de Vries, L.B.A., Kleefstra, T., Kleefstra, T., Kooy, R.F., Eichler, E.E., van der Aa, N.   +32 more
openaire   +5 more sources

Helsmoortel-van der Aa syndrome syndrome in a patient with epilepsy, developmental delay, intellectual disability, and autism spectrum disorder

Эпилепсия и пароксизмальные состояния, 2020
Autism spectrum disorders (ASDs) are a group of complex disintegrative disorders of mental development, characterized by a lack of ability to social interaction, communication, stereotyped behavior, leading to social maladaptation.
T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, E. G. Luk`yanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko   +6 more
doaj   +1 more source

VIP/PACAP-Based Drug Development: The ADNP/NAP-Derived Mirror Peptides SKIP and D-SKIP Exhibit Distinctive in vivo and in silico Effects

Frontiers in Cellular Neuroscience, 2020
Activity-dependent neuroprotective protein (ADNP) was discovered and first characterized in the laboratory of Prof. Illana Gozes to be regulated by vasoactive intestinal peptide (VIP), and pituitary adenylate cyclase-activating peptide (PACAP) toward ...
Shlomo Sragovich, Noy Amram, Adva Yeheskel, Illana Gozes   +3 more
doaj   +1 more source

NAP (Davunetide): The Neuroprotective ADNP Drug Candidate Penetrates Cell Nuclei Explaining Pleiotropic Mechanisms

Cells, 2023
(1) Background: Recently, we showed aberrant nuclear/cytoplasmic boundaries/activity-dependent neuroprotective protein (ADNP) distribution in ADNP-mutated cells.
Maram Ganaiem, Nina D. Gildor, Shula Shazman, Gidon Karmon, Yanina Ivashko-Pachima, Illana Gozes   +5 more
doaj   +1 more source

Antibody response in children with multisystem inflammatory syndrome related to COVID-19 (MIS-C) compared to children with uncomplicated COVID-19

Frontiers in Immunology, 2023
ObjectivesTo comprehensively analyze the quality of the antibody response between children with Multisystem inflammatory syndrome (MIS-C) and age-matched controls at one month after SARS-CoV-2 exposure, and infected in the same time-period.MethodsSerum ...
Anaïs Thiriard, Benjamin Meyer, Christiane S. Eberhardt, Natasha Loevy, Serge Grazioli, Wafae Adouan, Paola Fontannaz, Fabienne Marechal, Arnaud G. L’Huillier, Claire-Anne Siegrist, Daphnée Georges, Daphnée Georges, Antonella Putignano, Arnaud Marchant, Arnaud M. Didierlaurent, Geraldine Blanchard-Rohner, Geraldine Blanchard-Rohner   +16 more
doaj   +1 more source

Combined MECP2 duplication syndrome and ADNP syndrome in a Chinese boy: a case report and literature review

, 2023
Abstract Background Methyl-CpG-binding protein 2 (MECP2) acts as a transcriptional repressor or activator regulating the genes associated with nerve system development. The increased copy number of MECP2 can cause a new X‑linked intellectual disability syndrome named MECP2 duplication syndrome (MDS), which is characterized by a broad range of ...
Yun-Xiu Fan, Wu Yang, Hongwen Zhang
openaire   +1 more source

Clinical detection of corticobasal syndrome, beyond an “atypical" Alzheimer's [PDF]

Alzheimers Dement
Abstract Corticobasal syndrome (CBS) corresponds to a progressive deterioration of motor and associative cognitive functions that include ideomotor apraxia, astereognosis/loss of graphesthesia, sensory extinction, alien limb in combination with marked asymmetric limb dystonia, rigidity or myoclonus.
Flores I, Tartaglia C, Kovacs G, Couto B.   +3 more
europepmc   +2 more sources

Sleep profiles in individuals with rare neurogenetic syndromes

Developmental Medicine &Child Neurology, EarlyView.
Aim To characterize sleep profiles in individuals with neurogenetic disorders (NGDs) and examine the contribution of key clinical and psychiatric symptoms to these profiles. Method The parents of 248 individuals (aged 3–45 years) diagnosed with a range of NGDs, including PTEN hamartoma tumor syndrome (n = 111), SYNGAP1‐related intellectual disability ...
Isabella C. Reyes, Thomas W. Frazier, Antonio Y. Hardan, Lacey Chetcuti, Samuel J. R. A. Chawner, Emily Spackman, Mirko Uljarević, Emma K. Baker   +7 more
wiley   +1 more source

A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel–van der Aa syndrome [PDF]

European Journal of Human Genetics, 2018
Helsmoortel-van der Aa (SWI/SNF autism-related or ADNP syndrome) is an autosomal dominant monogenic syndrome caused by de novo variants in the last exon of ADNP gene and no deletions have been documented to date. We report the first case of a 3 years and 10 months old boy exhibiting typical features of ADNP syndrome, including intellectual disability ...
Minh-Tuan, Huynh, Elise, Boudry-Labis, Alfred, Massard, Caroline, Thuillier, Bruno, Delobel, Bénédicte, Duban-Bedu, Catherine, Vincent-Delorme   +6 more
openaire   +2 more sources

Microglia and neuroinflammation: An in‐depth analysis from functional diversity to disease mechanisms

Clinical and Translational Medicine, Volume 16, Issue 9, September 2026.
1. Microglial functions arise from dynamic, context‐dependent programs rather than fixed M1/M2 phenotypes. 2. Inflammatory, interferon‐responsive, phagocytic/lipid‐metabolic and repair‐associated programs coexist across disease stages and brain regions. 3.
Jie Chen, Wangzheqi Zhang, Lizhou Song, Yan Liao, Haoling Zhang, Yiyang Xia, Derong Cui   +6 more
wiley   +1 more source