Results 31 to 40 of about 2,066 (126)

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   +1 more source

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

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 ...
Claudio Peter D’Incal, Elisa Cappuyns, Kaoutar Choukri, Kevin De Man, Kristy Szrama, Anthony Konings, Lina Bastini, Kim Van Meel, Amber Buys, Michele Gabriele, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Fabio Mohn, Marc Bühler, Nathalie Van der Aa, Anke Van Dijck, R. Frank Kooy, Wim Vanden Berghe   +18 more
doaj   +1 more source

Proximity labeling identifies a repertoire of site-specific R-loop modulators

Nature Communications, 2022
R-loops are three-stranded nucleic acid structures that contribute to genome instability and accumulate in neurological diseases. Here the authors identify R-loop proximal factors, which are enriched for zinc finger and homeodomain proteins, including ...
Qingqing Yan, Phillip Wulfridge, John Doherty, Jose L. Fernandez-Luna, Pedro J. Real, Hsin-Yao Tang, Kavitha Sarma   +6 more
doaj   +1 more source

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

Activity-Dependent Neuroprotective Protein (ADNP)-Derived Peptide (NAP) Counteracts UV-B Radiation-Induced ROS Formation in Corneal Epithelium

Antioxidants, 2022
The corneal epithelium, the outermost layer of the cornea, acts as a dynamic barrier preventing access to harmful agents into the intraocular space. It is subjected daily to different insults, and ultraviolet B (UV-B) irradiation represents one of the ...
Grazia Maugeri, Agata Grazia D’Amico, Salvatore Giunta, Cesarina Giallongo, Daniele Tibullo, Claudio Bucolo, Salvatore Saccone, Concetta Federico, Davide Scollo, Antonio Longo, Teresio Avitabile, Giuseppe Musumeci, Velia D’Agata   +12 more
doaj   +1 more source

Serological Predictors of Protection from Infection Upon Household Exposure to SARS‐CoV‐2

European Journal of Immunology, Volume 56, Issue 8, August 2026.
Household members of SARS‐CoV‐2 positive index persons donated a serum sample (t = 0). Within 14 days, the household members reported if COVID‐19‐like symptoms appeared and returned after 2 weeks to be retested. Serum responses were comprehensively measured and elevated variant‐specific IgA1 and neutralizing antibody responses identified in the ...
Henrike Maaß, Imke Hinrichs, Martina Pavletic, Manuela Harries, Tatjana Prinke, Najat Bdeir, Richard Egelkamp, Berit Lange, Yannic C. Bartsch, Mate Lerga, Luka Cicin‐Sain   +10 more
wiley   +1 more source

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   +1 more source

Molecular Acrobats: How CHD Remodelers Shape the Genetic Playground to License Cell Identity

BioEssays, Volume 48, Issue 7, July 2026.
ABSTRACT In eukaryotes, DNA is not a naked repository of genetic information but is tightly wound around histone octamers to form nucleosomes. While this packaging solves the spatial problem of fitting 2 meters of DNA into a microscopic nucleus, it creates a massive accessibility problem for DNA‐templated events, including transcription, replication ...
İsa Özdemir, Sarah J. Hainer
wiley   +1 more source

Tuning energy properties via N-NH2 strategy: Construction of two isomeric energetic compounds based on nitro-substituted pyrazoles

Energetic Materials Frontiers
The N-site functionalization strategy of nitrogen-rich heterocycles has attracted considerable research attention due to its crucial role in achieving structural diversity and outstanding performance of high-energy compounds.
Mei-qi Xu, Wen-shuai Dong, Qamar un Nisa Tariq, Zu-jia Lu, Cong Li, Chao Zhang, Bin-shan Zhao, Qi-yao Yu, Jian-guo Zhang   +8 more
doaj   +1 more source