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2 edition of Expression analyses of members of the GTF2I gene family in Williams-Beuren syndrome. found in the catalog.

Expression analyses of members of the GTF2I gene family in Williams-Beuren syndrome.

Wayne Loo

Expression analyses of members of the GTF2I gene family in Williams-Beuren syndrome.

by Wayne Loo

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Published .
Written in English


About the Edition

Williams-Beuren Syndrome (WBS; OMIM 194050) is a multisystem developmental disorder caused by a hemizygous deletion of 7g11.23. To assess the hypothesis that GTF2I gene family members are involved in the pathogenesis of WBS due to their haploinsufficiency, we performed expression analyses on GTF2I and related gene GTF2IRD1 using independent methodologies of RNase Protection Assay and Quantitative Reverse-Transcription Polymerase-Chain-Reaction. Expression ratios were calculated by comparing normalized gene expression levels between probands (WBS Deletion, Inversion, or Duplication Patients) and respective parental controls. GTF2I expression levels correlated well with gene copy-number in WBS Deletion and Duplication Patient(s), but were not significantly altered in WBS Inversion Patients. In contrast, GTF2IRD1 showed overall low expression levels and no obvious correlation with gene copy-number in WBS Deletion or Duplication Patient(s), and were not significantly altered in WBS Inversion Patients. These results support a role for involvement of GTF2I in the pathogenesis of WBS.

The Physical Object
Pagination174 leaves.
Number of Pages174
ID Numbers
Open LibraryOL19512802M
ISBN 100612955052

Williams-Beuren syndrome (WBS), caused by a heterozygous deletion at 7q, represents a model for studying hypertension, the leading risk factor for mortality worldwide, in a genetically determined disorder. Haploinsufficiency at the elastin gene is Cited by:   Williams-Beuren Syndrome (WBS) is a genetic disorder associated with multisystemic abnormalities, including craniofacial dysmorphology and cognitive defects. It is caused by a hemizygous microdeletion involving up to 28 genes in chromosome 7q Genotype/phenotype analysis of atypical microdeletions implicates two evolutionary-related transcription factors, GTF2I and Cited by: 6.

Introduction. Williams–Beuren Syndrome (WBS; OMIM ) is a rare neurodevelopmental disorder caused by a heterozygous deletion of 26–28 contiguous genes on chromosome band 7q 1, 2 It usually occurs sporadically with an incidence of 1/7, newborns. 3 In addition to characteristic physical features and medical problems mainly affecting the cardiovascular, endocrine, and connective Cited by: Abstract. Williams-Beuren syndrome (WBS) is a genetic neurodevelopmental disorder characterized by distinctive facial features, mental disability with unique cognitive and personality profiles, supravalvular aortic stenosis (SVAS), short stature, occasional transient hypercalcemia in infancy, and connective tissue anomalies (1,2).It was first reported in under the name “idiopathic Author: Mònica Bayés, Luis A. Pérez Jurado.

Effect of Gtf2i Gene on Anxiety Joana Dida Master of Science Institute of Medical Science University of Toronto Abstract Duplication and deletion of a common interval spanning 26 genes on chromosome 7q cause Dup7q Syndrome and Williams-Beuren Syndrome, neurodevelopmental disorders with contrasting anxiety : Joana Dida.   Williams syndrome (WS), also known as William-Beuren syndrome, is a rare neurodevelopmental disorder caused due to hemizygous microdeletion of around 25–30 genes, encompassing the Elastin (ELN Author: Sukant Khurana.


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Developmental outcome in the first two years of life in extremely low birthweight infants, [equal to or less than] 1000 grams, as compared to very low birthweight infants 1001-1500 grams

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Expression analyses of members of the GTF2I gene family in Williams-Beuren syndrome by Wayne Loo Download PDF EPUB FB2

GTF2I and GTF2IRD1 encoding the multifunctional transcription factors TFII-I and BEN are clustered at the 7q region hemizygously deleted in Williams-Beuren syndrome (WBS), a complex multisystemic neurodevelopmental disorder.

Although the biochemical properties of TFII-I family transcription factors have been studied in depth, little is known about the specialized contributions of Cited by: The Gtf2i gene family in Williams-Beuren Syndrome Project members: Professor Edna Hardeman Professor T: +61 2 E: [email protected] Scientia Professor Gary Housley Professor T: +61 2 Authorised by Head of School of Medical Sciences.

Williams–Beuren syndrome (also known as Williams syndrome) is caused by a deletion of a to megabase region from chromosome band 7q GTF2IRD1 and GTF2I, located within this critical region, encode proteins of the TFII-I family with multiple helix–loop–helix domains known as I repeats.

In the present work, we characterize a third member, GTF2IRD2, which has Cited by: The GTF2I gene is known to be linked its deletion or missense mutation with cancerous phenotype (Petrini et al., ; Guenat et al., ).

The human BCL7 gene family consists of BCL7A, BCL7B, and BCL7C. A number of clinical studies have reported that members of the BCL7 family are involved in cancer incidence, progression, and by: 1. Williams-Beuren syndrome (WBS) is a rare genetic disorder caused by a hemizygous deletion of around 28 genes on the long arm of chromosome 7 (7q), characterized by a unique spectrum of.

The whole set of results is available in the GEO datab26 as “A transcriptomic study of Williams-Beuren syndrome associated genes Author: Rossella De Cegli, Simona Iacobacci, Anthony Fedele, Andrea Ballabio, Diego di Bernardo.

Of the TFII-I family, GTF2I was the first member identified and is, therefore, best understood (Cheriyath and Roy ).GTF2I contains an LZ, which is essential for ho-modimerization, and six I-repeats.

The I-repeats are specific to TFII-I family members, and have a putative helix-loop-helix (HLH) structure (Roy et al. ).Dimerization is thought to be facilitated through the I-repeats Cited by: 1. Results and discussion Gtf2ird1 and Williams syndrome clinical features. GTF2IRD1, GTF2I and GTF2IRD2 are members of a gene family that are located on chromosome 7q (Hinsley et al.,Bayarsaihan et al., ).

GTF2IRD1 and GTF2I are adjacent and GTF2IRD2 is separated from the GTF2I gene by the NCF1 gene. They all share considerable homology within a repeated domain, Cited by: The expression patterns of three members of the TFII‐I gene family were mapped by in situ hybridization in mouse embryonic tooth germs between E and newborn.

This period encompasses tooth development from the earliest formation of the epithelial thickening to the onset of cytodifferentiation. Williams-Beuren syndrome Susan M. Corley1*, Cesar P.

Canales2, Paulina Carmona-Mora2, Gtf2ird1 is a member of the Gtf2i family of genes, en- RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome. Northern blot analysis showed that the gene is expressed in skeletal muscle and heart, and RT-PCR analysis showed expression in a range Cited by: Williams–Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a heterozygous deletion of 26–28 genes at chromosome band 7q Haploinsufficiency at GTF2I has been shown to play a major role in the neurobehavioral phenotype.

By characterizing the neuronal architecture in four animal models with intragenic, partial, and complete deletions of the WBS critical interval (ΔGtf2i Cited by: Studies have suggested that three members of the TFII-I gene family (Gtf2i, Gtf2ird1 and Gtf2ird2), which are expressed during odontogenesis, are potential candidate genes within the deleted.

Protein Science, the flagship journal of The Protein Society, serves an international forum for publishing original reports on all scientific aspects of protein molecules. The Journal publishes papers by leading scientists from all over the world that report on advances in the understanding of proteins in the broadest sense.

Protein Science aims to unify this field by cutting across. for diagnosis is detection of the contiguous gene deletion of the Williams-Beuren syndrome critical region (WBSCR) that encompasses the elastin (ELN) gene. Over 99% of individuals with the clinical diagnosis of WS have this contiguous gene deletion, which can be detected using fluorescent in situ hybridization (FISH) or targeted mutation analysis.

Williams–Beuren syndrome (WBS; OMIM ) is caused by heterozygous deletions of ~ Mb of chromo- is confirmed by FISH analysis with cosmids containing part of the elastin (ELN) gene that is located in the center of the com- GTF2I gene that encodes the multifunctional transcription factor TFII-I (also called SPIN or BAP).

This gene encodes a multifunctional phosphoprotein with roles in transcription and signal transduction. It is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q The exon(s) encoding 5' UTR has not been fully defined, but this gene is known to contain at least 34 exons, and its alternative splicing generates 4 transcript Aliases: GTF2I, BAP, BTKAP1, DIWS, GTFII.

Williams-Beuren Syndrome Cognitive Profile (WBSCP): 7 Genomic structure and molecular basis of Williams-Beuren Syndrome 11 WBS genotype-phenotype correlations 13 Identification of a WBS critical region 14 Transcription factors in human disease 15 GTF2I transcription factor gene family 17 The Author: Edwin Young.

Williams–Beuren syndrome (WBS; MIM ) is a rare developmental disorder (1/20 –1/50 live births) which usually occurs sporadically and has striking physical and behavioural features. WBS individuals have mild mental retardation, Cited by:   CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome.

Researchers have found that loss of the ELN gene is associated with the connective tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis) found in many people with this disease.

General transcription factor (TFII-I) is a multi-functional transcription factor encoded by the Gtf2i gene, that has been demonstrated to regulate transcription of genes critical for development. Because of the broad range of genes regulated by TFII-I as well as its potential role in a significant neuro-developmental disorder, developing a comprehensive expression profile is critical to the Cited by: 6.

Expression patterns of CPTER1 in both species are specific for lung, kidney, intestine, pancreas and thyroid, with absence of expression in brain, heart, muscle and spleen. Sequence analyses of the human and mouse genes revealed that they are members of the claudin family of four transmembrane proteins (66).Cited by: Physicians, family members of individuals with Williams syndrome, and Williams syndrome associations alike have called for the curtailment of such terms.

[9] One notable person with the syndrome is Gabrielle Marion-Rivard, a Canadian actress and singer who won the Canadian Screen Award for Best Actress in for her performance in the film Gabrielle. [58]Complications: Heart problems, periods of high blood .