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Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.
Clin Genet
November 2024
Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder linked to haploinsufficiency of CREBBP (RSTS1) and EP300 (RSTS2) genes. Characteristic features often include distinctive facial traits, broad thumbs and toes, short stature, and various degrees of intellectual disability. The clinical presentation of RSTS is notably variable, making it challenging to establish a clear genotype-phenotype correlation, except for specific variants which cause the allelic Menke-Hennekam syndrome.
View Article and Find Full Text PDFAnalysis of genes differentially expressed in the cortex of mice with the Tbl1xr1 variant.
Gene
November 2024
Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Research Institute Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:
Transducin β-like 1 X-linked receptor 1 (mouse Tbl1xr1) or TBL1X/Y related 1 (human TBL1XR1), part of the NCoR/SMRT corepressor complex, is involved in nuclear receptor signaling. Variants in TBL1XR1 cause a variety of neurodevelopmental disorders including Pierpont syndrome caused by the p.Tyr446Cys variant.
View Article and Find Full Text PDFBlepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
Am J Med Genet C Semin Med Genet
December 2024
Department of Translational Medicine, Federico II University of Naples, Naples, Italy.
Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides-Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disability. BIS is caused by pathogenic variants in SMARCA2, that encodes the catalytic subunit of the superfamily II helicase group of the BRG1 and BRM-associated factors (BAF) forming the BAF complex, a chromatin remodeling complex involved in transcriptional regulation. Individuals bearing variants within the bipartite nuclear localization (BNL) signal domain of ADNP present with the neurodevelopmental disorder known as Helsmoortel-Van Der Aa Syndrome (HVDAS).
View Article and Find Full Text PDFIdentification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes.
JBMR Plus
July 2024
Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), University of Oxford, Churchill Hospital, Headington, Oxford OX3 7LJ, United Kingdom.
Article Synopsis
- Mutations in the Nuclear factor I/X (NFIX) gene are linked to two skeletal disorders, Marshall-Smith syndrome (MSS) and Malan syndrome (MAL), affecting gene expression in nervous tissue.
- Researchers analyzed fibroblast cell lines from MSS patients and controls, discovering that certain frameshift mutations produced truncated NFIX proteins while not significantly impacting other gene expressions.
- Further studies involving RNA sequencing revealed 191 misregulated transcripts and 815 proteins in affected cells, identifying specific genes like cellular retinoic acid binding protein 2 and vascular cell adhesion molecule 1 as potential targets for drug development.
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