Consistent hypersocial behavior in mice carrying a deletion of Gtf2i but no evidence of hyposocial behavior with Gtf2i duplication: Implications for Williams–Beuren syndrome and autism spectrum disorder
Sign Up to like & getrecommendations! Published in 2018 at "Brain and Behavior"
DOI: 10.1002/brb3.895
Abstract: Williams–Beuren syndrome (WBS) is a developmental disorder caused by hemizygous deletion of human chromosome 7q11.23. Hypersocial behavior is one symptom of WBS and contrasts with hyposociality observed in autism spectrum disorder (ASD). Interestingly, duplications of… read more here.
Keywords: beuren syndrome; hypersocial behavior; disorder; gtf2i ... See more keywords
Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion).
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.102087
Abstract: Skin fibroblasts were obtained from four patients with Williams-Beuren syndrome (WBS) carrying the typical 1.5 Mb or 1.8 Mb deletion at the 7q11.23 genomic region. Induced pluripotent stem cells (iPSCs) were generated by retroviral infection of fibroblasts… read more here.
Keywords: beuren syndrome; deletion; stem; four patients ... See more keywords
A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells
Sign Up to like & getrecommendations! Published in 2019 at "Scientific Data"
DOI: 10.1038/s41597-019-0281-5
Abstract: AbstractWilliams-Beuren syndrome (WBS) is a relatively rare disease caused by the deletion of 1.5 to 1.8 Mb on chromosome 7 which contains approximately 28 genes. This multisystem disorder is mainly characterized by supravalvular aortic stenosis, mental… read more here.
Keywords: beuren syndrome; wbs; mouse embryonic; embryonic stem ... See more keywords
Lacrimal drainage system anomalies in Williams-Beuren syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Orbit"
DOI: 10.1080/01676830.2020.1755317
Abstract: ABSTRACT Williams-Beuren syndrome is a rare multi-system disorder affecting 1:10000 to 1:20000 live-births. The cause is de novo contiguous gene deletion on the long arm of chromosome 7 (7q11.23). It typically manifests with dysmorphic facies… read more here.
Keywords: drainage system; beuren syndrome; williams beuren; lacrimal drainage ... See more keywords
Whole exome sequencing in patients with Williams-Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk.
Sign Up to like & getrecommendations! Published in 2020 at "Human molecular genetics"
DOI: 10.1093/hmg/ddaa093
Abstract: Supravalvular aortic stenosis (SVAS) is a narrowing of the aorta caused by elastin (ELN) haploinsufficiency. SVAS severity varies among patients with Williams Beuren syndrome (WBS), a rare disorder that removes one copy of ELN and… read more here.
Keywords: beuren syndrome; patients williams; svas; stenosis ... See more keywords
MON-253 Severe Infantile Hypercalcemia in Williams-Beuren Syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the Endocrine Society"
DOI: 10.1210/js.2019-mon-253
Abstract: Abstract Background: Williams-Beuren Syndrome (WBS) is due to a microdeletion on chromosome 7q11, and is associated with facial dysmorphisms, supravalvular aortic stenosis, a sociable personality and infantile hypercalcemia that is clasically mild and transient. Here… read more here.
Keywords: wbs; williams beuren; infantile hypercalcemia; beuren syndrome ... See more keywords
Dental management in Williams-Beuren syndrome: Case report
Sign Up to like & getrecommendations! Published in 2017 at "Dental and Medical Problems"
DOI: 10.17219/dmp/68579
Abstract: Williams-Beuren syndrome is a multisystem disorder caused by microdeletion of chromosome No. 7 at the 7q11.23 band. The physical phenotype includes typical facial dysmorphism with a flat nasal bridge, short upturned nose, periorbital puffiness, long… read more here.
Keywords: beuren syndrome; dental management; management williams; syndrome case ... See more keywords
Elastin Insufficiency Confers Proximal and Distal Pulmonary Vasculopathy in Mice, Partially Remedied by the KATP Channel Opener Minoxidil: Considerations and Cautions for the Treatment of People With Williams-Beuren Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cardiovascular Medicine"
DOI: 10.3389/fcvm.2022.886813
Abstract: Background Williams Beuren syndrome (WBS) is a recurrent microdeletion disorder that removes one copy of elastin (ELN), resulting in large artery vasculopathy. Early stenosis of the pulmonary vascular tree is common, but few data are… read more here.
Keywords: proximal distal; williams beuren; beuren syndrome; mice ... See more keywords
Williams-Beuren Syndrome Related Methyltransferase WBSCR27: From Structure to Possible Function
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Molecular Biosciences"
DOI: 10.3389/fmolb.2022.865743
Abstract: Williams-Beuren syndrome (WBS) is a genetic disorder associated with the hemizygous deletion of several genes in chromosome 7, encoding 26 proteins. Malfunction of these proteins induce multisystemic failure in an organism. While biological functions of… read more here.
Keywords: methyltransferase wbscr27; williams beuren; structure; beuren syndrome ... See more keywords
Epileptic Phenotype and Cannabidiol Efficacy in a Williams–Beuren Syndrome Patient With Atypical Deletion: A Case Report
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2021.659543
Abstract: Epilepsy is a rare clinical manifestation in Williams–Beuren syndrome patients. However, some studies report the presence of infantile spasms and epilepsy in patients carrying larger deletions. Herein, we describe a 13-year-old female affected by Williams–Beuren… read more here.
Keywords: phenotype cannabidiol; beuren syndrome; deletion; epileptic phenotype ... See more keywords
Differences and Similarities in Adaptive Functioning between Children with Autism Spectrum Disorder and Williams–Beuren Syndrome: A Longitudinal Study
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13071266
Abstract: Background: The last decade has seen a growing number of comparative studies on adaptive profiles between individuals with autism spectrum disorder (ASD) and Williams–Beuren syndrome (WBS), showing shared and syndrome-specific adaptive trajectories. Studies have revealed… read more here.
Keywords: time; williams beuren; beuren syndrome; autism spectrum ... See more keywords