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The BAF complex in development and disease
The ATP-dependent chromatin remodelling complex BAF (= mammalian SWI/SNF complex) is crucial for the regulation of gene expression and...
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PEDIA: prioritization of exome data by image analysis
PurposePhenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows...
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ANCA-associated vasculitis APMIS SUPPL 1 27:32–36, 2009
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Genome-wide studies reveal the essential and opposite roles of ARID1A in controlling human cardiogenesis and neurogenesis from pluripotent stem cells
BackgroundEarly human heart and brain development simultaneously occur during embryogenesis. Notably, in human newborns, congenital heart defects...
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Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
PurposeFor neurodevelopmental disorders (NDDs), etiological evaluation can be a diagnostic odyssey involving numerous genetic tests, underscoring the...
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The ATPase BRG1/SMARCA4 is a protein interaction platform that recruits BAF subunits and the transcriptional repressor REST/NRSF in neural progenitor cells
The BAF complex (SWI/SNF) is an ATP-dependent chromatin remodeler that adapts the structural organization of the chromatin. Despite a growing...
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Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants
PurposeNext-generation sequencing has revealed the major impact of de novo variants (DNVs) in developmental disorders (DD) such as intellectual...
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SMARCA2-deficiency confers sensitivity to targeted inhibition of SMARCA4 in esophageal squamous cell carcinoma cell lines
SMARCA4/BRG1 and SMARCA2/BRM, the two mutually exclusive catalytic subunits of the BAF complex, display a well-established synthetic lethal...
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Autosomal dominant intellectual disability
Intellectual disability (ID) is a heterogeneous entity defined as a substantial impairment of cognitive and adaptive function with an onset in early...
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Ped Derm 28:15–19, 2011
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Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy
Developmental and epileptic encephalopathies (DEEs) are genetically heterogenous conditions, often characterized by early onset, EEG interictal...
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SWI/SNF-Komplex-assoziierte Tumordispositions-Syndrome
The SWI/SNF(SWItch/Sucrose Non-fermentable)-complexes are composed of several different subunits with specialized functions in specific tissues....
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Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype
Chromatin remodeling is a complex process sha** the nucleosome landscape, thereby regulating the accessibility of transcription factors to...
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ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome
KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with...
