Chromatin Remodeling in the Brain-a NuRDevelopmental Odyssey
S Larrigan, S Shah, A Fernandes, P Mattar - International Journal of …, 2021 - mdpi.com
During brain development, the genome must be repeatedly reconfigured in order to facilitate
neuronal and glial differentiation. A host of chromatin remodeling complexes facilitates this …
neuronal and glial differentiation. A host of chromatin remodeling complexes facilitates this …
Direct targets of MEF2C are enriched for genes associated with schizophrenia and cognitive function and are involved in neuron development and mitochondrial …
Myocyte Enhancer Factor 2C (MEF2C) is a transcription factor that plays a crucial role in
neurogenesis and synapse development. Genetic studies have identified MEF2C as a gene …
neurogenesis and synapse development. Genetic studies have identified MEF2C as a gene …
Genes positively regulated by Mef2c in cortical neurons are enriched for common genetic variation associated with IQ and educational attainment
The myocyte enhancer factor 2 C (MEF2C) gene encodes a transcription factor important for
neurogenesis and synapse development and contains common variants associated with …
neurogenesis and synapse development and contains common variants associated with …
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation
E Bosch, E Güse, P Kirchner, A Winterpacht, M Walther… - Human Genetics, 2024 - Springer
ARID1B is the most frequently mutated gene in Coffin-Siris syndrome (CSS). To date, the
vast majority of causative variants reported in ARID1B are truncating, leading to nonsense …
vast majority of causative variants reported in ARID1B are truncating, leading to nonsense …
Real-time observation of “soft” magic-size clusters during hydrolysis of the model metallodrug bismuth disalicylate
Colloidal bismuth therapeutics have been used for hundreds of years, yet remain
mysterious. Here we report an X-ray pair distribution function (PDF) study of the solvolysis of …
mysterious. Here we report an X-ray pair distribution function (PDF) study of the solvolysis of …
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation
S Bhat, J Rousseau, C Michaud, CM Lourenço… - The American Journal of …, 2024 - cell.com
Ion channels mediate voltage fluxes or action potentials that are central to the functioning of
excitable cells such as neurons. The KCNB family of voltage-gated potassium channels (Kv) …
excitable cells such as neurons. The KCNB family of voltage-gated potassium channels (Kv) …
Comprehensive genetic testing for pediatric hypertrophic cardiomyopathy reveals clinical management opportunities and syndromic conditions
Hypertrophic cardiomyopathy (HCM) has historically been diagnosed phenotypically.
Through genetic testing, identification of a molecular diagnosis (MolDx) is increasingly …
Through genetic testing, identification of a molecular diagnosis (MolDx) is increasingly …
Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental …
H Margot, A Pizano, A Amestoy… - American Journal of …, 2024 - Wiley Online Library
Marfanoid habitus and intellectual disability (MHID) co‐occur in multiple
neurodevelopmental disorders (NDD). Among those, Lujan‐Fryns, an X‐linked genetic …
neurodevelopmental disorders (NDD). Among those, Lujan‐Fryns, an X‐linked genetic …
[HTML][HTML] Allan-Herndon-Dudley syndrome in a female patient and related mechanisms
C Olivati, BP Favilla, EL Freitas, B Santos… - Molecular Genetics and …, 2022 - Elsevier
Abstract Allan-Herndon-Dudley syndrome (AHDS) is characterized by neuropsychomotor
developmental delay/intellectual disability, neurological impairment with a movement …
developmental delay/intellectual disability, neurological impairment with a movement …
[HTML][HTML] ARID1B-related disorder in 87 adults: Natural history and self-sustainability
PJ van der Sluijs, M Gösgens, AJM Dingemans… - Genetics in Medicine …, 2024 - Elsevier
Purpose ARID1B is one of the most frequently mutated genes in intellectual disability
cohorts. Thus, far few adult-aged patients with ARID1B-related disorder have been …
cohorts. Thus, far few adult-aged patients with ARID1B-related disorder have been …