Williams Syndrome: A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.Aortic Stenosis, Supravalvular: A pathological constriction occurring in the region above the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.Syndrome: A characteristic symptom complex.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.ElastinFacies: The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)Lim Kinases: Serine protein kinases involved in the regulation of ACTIN polymerization and MICROTUBULE disassembly. Their activity is regulated by phosphorylation of a threonine residue within the activation loop by intracellular signaling kinases such as P21-ACTIVATED KINASES and by RHO KINASE.Personal Construct Theory: A psychological theory based on dimensions or categories used by a given person in describing or explaining the personality and behavior of others or of himself. The basic idea is that different people will use consistently different categories. The theory was formulated in the fifties by George Kelly. Two tests devised by him are the role construct repertory test and the repertory grid test. (From Stuart Sutherland, The International Dictionary of Psychology, 1989)Nervous System Malformations: Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Face: The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.Down Syndrome: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)Cardiovascular Abnormalities: Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.History, 19th Century: Time period from 1801 through 1900 of the common era.Perceptual Disorders: Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.Creativity: The ability to generate new ideas or images.Intelligence: The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions.Abnormalities, MultipleIn Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.History, 17th Century: Time period from 1601 through 1700 of the common era.

*  Clare's Journey: Yet Another Update
What Is Williams Syndrome?. Williams syndrome is a rare genetic condition (estimated to occur in 1/10,000 births) which causes ... Williams syndrome was first recognized as a distinct entity in 1961. It is present at birth, and affects males and females ... Williams syndrome is caused by a spontaneously occurring deletion of 20 genes on chromosome #7, including the gene that makes ... Individuals with Williams syndrome have a very endearing personality. They have a unique strength in their expressive language ...
*  DMOZ - Health: Conditions and Diseases: Neurological Disorders: Chromosomal: Williams Syndrome: Organizations
... and advocacy for patients with Williams Syndrome, their families and caregivers. ... Autour des Williams French Williams Syndrome Association, with limited information in English, Italian and Spanish, and French ... New Zealand Williams Syndrome Association Voluntary non-profit organization run by parents, offering help to families with a ... Williams Syndrome Association Offers information and support to patients, their families and caregivers. Includes news and ...
*  Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome.
A hallmark feature of Williams-Beuren Syndrome (WBS) is a generalized arteriopathy due to elastin deficiency, presenting as ... Year: 2000A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome-deletion region at 7q11.23.Am J Hum ... Rose C,Wessel A,Pankau R,Partsch CJ,Bursch J. Year: 2001Anomalies of the abdominal aorta in Williams-Beuren syndrome-another ... Williams-Beuren syndrome (WBS [MIM 194050]) is a developmental disorder with multisystemic manifestations and a prevalence of ∼ ...
*  PLOS Computational Biology: Using Transcription Modules to Identify Expression Clusters Perturbed in Williams-Beuren Syndrome
... such as the 7q11.23 deletion present in individuals with Williams-Beuren syndrome (WBS). Here, we present an approach that ... Using Transcription Modules to Identify Expression Clusters Perturbed in Williams-Beuren Syndrome. Figure 1. Differential ...
*  Gene Expression: Williams syndrome in <i>The New York Times...
Williams syndrome in The New York Times Magazine posted by Razib @ 7/07/2007 06:50:00 PM Williams syndrome in The New York ... David Dobbs has an interesting article in The New York Times Magazine about Williams syndrome; a disorder characterized by ...
*  Williams syndrome - Wikipedia
"Diagnosing Williams Syndrome". Guide to Williams Syndrome. Williams Syndrome Association. Archived from the original on 2011-12 ... including the Canadian Association for Williams Syndrome and the Williams Syndrome Registry. Williams syndrome has historically ... "cocktail party syndrome". Physicians, family members of individuals with Williams syndrome, and Williams syndrome associations ... The syndrome was first described in 1961 by New Zealander John C. P. Williams. Williams syndrome affects between 1 in 7,500 to ...
*  Williams Syndrome - AAPOS
Williams Syndrome. Read in Chinese What causes Williams Syndrome?. Williams Syndrome is caused by a deletion of genetic ... How is Williams Syndrome Diagnosed?. Williams Syndrome is usually diagnosed with the characteristic facial features and the ... What research is being done for children with Williams Syndrome? There is no cure for Williams Syndrome. Research is being done ... What sort of eye problems could a child have with Williams Syndrome?. Certain ocular findings such as strabismus and amblyopia ...
*  Need help coding Williams Syndrome
I have looked through the book and cannot find this syndrome under anything. ... Does any one know the icd-9-cm code for Williams Syndrome? ... Williams syndrome (WS or WMS; also Williams-Beuren syndrome or ... Williams Syndrome Looks like you could go either way on this one.. williams syndrome noun a rare congenital disorder associated ... Other micro-deletion syndromes (758.5) (includes Miller Dieker syndrome, Smith-Magenis syndrome). DiGeorge Syndrome (279.11). ...
*  Williams Syndrome: It's Not a Fairy Tale : NPR
A rare genetic disorder called Williams Syndrome lends scientific support to the legends. Drummer Jeremy Vest is among those ... Williams Syndrome: It's Not a Fairy Tale Fairy tales tell of wee folk who spend their lives singing and dancing. A rare genetic ... CHATTERJEE: Williams Syndrome is caused by a set of genes that go missing. Scientists have slowly begun to understand how these ... JEREMY VEST (Williams Syndrome Patient): I was just upstairs in my room listening to Malaguena from a really awesome show ...
*  Webinars | Williams Syndrome Association
... williams-syndrome.org with 'Webinar topics' in the subject field. ... Your Classmate Has Williams Syndrome * Your Friend Has Williams ... Calcium and Vitamin D and Williams syndrome. 5-8-2013. Discussion of the ways in which calcium and Vitamin D affect individuals ... If you would like to suggest a topic for a future webinar, please send your ideas via email to info@williams-syndrome.org with ... Discussion about treating fears and phobias in people with Williams syndrome, followed by a question and answer session with Dr ...
*  school | Williams Syndrome Association
As I read posts on the WS Support page, the listserve, throughout Facebook, and think back on my son's school years it is clear to me, that late August and early September are clearly a time for new beginnings - much more so than the traditional New Year's Day. But the new beginnings that I am talking about are not signaled by all night parties, and resolutions... I am talking about a time that comes complete with all the emotions that are associated with a new start - from anticipation and excitement to stress and anxiety. Think back to each new job. ...
*  WSA Mission | Williams Syndrome Association
... is a nonprofit organization that strives to enrich the lives of individuals and families affected by Williams syndrome and ... The Williams Syndrome Association is a nonprofit organization that strives to enrich the lives of individuals and families ... Increasing public awareness and understanding of Williams syndrome. *Encouraging and supporting research into a wide range of ... Providing information and emotional support to individuals with characteristics of Williams syndrome, their families, and the ...
*  WSA Camps | Williams Syndrome Association
Each year more than 200 youth and young adults with Williams syndrome enjoy one or more camp weeks designed especially for them ... The Williams Syndrome Association only accepts applications to work at the camps in Michigan. For volunteering and working at ... Each summer (and a special adult camp in March!) more than 200 youth and teens with Williams syndrome enjoy camp weeks designed ... Most importantly, you will have the chance to make a difference in the life of a child with Williams syndrome. ...
*  Educational Strategies | Williams Syndrome Association
For a one page fact sheet on the educational profile for sudents with Williams syndrome, click here.Connecting the ws cognitive ... Educators face unique challenges teaching children with Williams syndrome, but with knowledge of the learning styles of ... Because individuals with Williams syndrome exhibit characteristic overlap, these approaches can be considered in the IEP ... Children with Williams syndrome have more difficulty processing nonverbal information than verbal information. When ...
*  Conventions and Conferences | Williams Syndrome Association
... the National Convention and International Professional Conference bring together the foremost experts on Williams syndrome and ... the National Convention and Professional Conference bring together the foremost experts on Williams syndrome and related ...
*  Benefits of Membership | Williams Syndrome Association
Members include individuals with Williams syndrome, their families and friends and medical and educational professionals. ... Anyone interested in learning more about Williams syndrome can benefit from membership in the WSA. ... Speakers at the convention are experts from around the world on Williams syndrome who can help you learn new ways to help your ... Members of the Williams Syndrome Association's Professional Advisory Board and other known experts in the field provide the ...
*  Information For Teachers | Williams Syndrome Association
Co-Director Williams Syndrome Program The Children's Hospital, Boston, MA ... The information presented here is a good starting point for understanding how to address these unique issuesWilliams Syndrome ... Educators face unique challenges teaching children with Williams syndrome. ... Should children with Williams syndrome be in regular classes?. *Should children with Williams syndrome receive any special ...
*  Social Media Poses Threat to People with Williams Syndrome
... Posted: May 20 2016, 1:02am CDT , by IANS, in News , Latest Science ... "It's time to start teaching individuals with Williams syndrome about safety, both in the real world and online," Fisher added. ... Williams syndrome is a relatively rare genetic disorder characterized by developmental delays, learning disabilities, ... Nearly 86 percent of adults with Williams syndrome use social networking sites such as Facebook nearly every day, typically ...
*  Zori-Stalker-Williams syndrome - Wikipedia
This means that Zori Stalker Williams syndrome, or a subtype of Zori Stalker Williams syndrome, affects less than 200,000 ... Zori-Stalker-Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails, is a rare ... Zori Stalker Williams syndrome at NIH's Office of Rare Diseases "Pectus excavatum macrocephaly dysplastic nails". Orphanet. ... Williams CA (1992). "A syndrome of familial short stature, developmental delay, pectus abnormalities, distinctive facies, and ...
*  Music and Williams Syndrome | Williams Syndrome Association
It is quite common for those with Williams syndrome to be reduced to tears by classical music, disturbed by music played in ... Most individuals with Williams syndrome have an affinity to music. They are touched by music in ways not usually seen in the ... This definition fits well the relationship between Williams syndrome and music. People with Williams syndrome talk often about ... Note: Only a segment of the broadcast referred to Williams syndrome.). To quote: 'A child with William's syndrome once said, ' ...
*  What is Williams Syndrome? | Williams Syndrome
Williams Syndrome (WS) is a rare genetic disorder characterized by mild to moderate mental retardation or learning difficulties ... Signs and Symptoms of Williams Syndrome. A syndrome is a occurrence of set of symptoms together. In some medical syndromes, the ... What are the symptoms of Williams Syndrome? Symptoms of Williams Syndrome are puffiness, short nose, short stature, Chronic ... People who have Williams syndrome should not take extra calcium and vitamin D for the blood levels of theses minerals are ...
*  Balloon Dilation Angioplasty of Peripheral Pulmonary Stenosis Associated With Williams Syndrome | Circulation
Our mortality rate of 7.7% (3 of 39 procedures) was more than twice that of other series.7 9 17 Patients with Williams syndrome ... The diagnosis of Williams syndrome was based on clinical features1 or genetic analysis.15 Thirty-nine catheterizations involved ... Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients. J Med ... Myocardial infarction leading to sudden death in the Williams syndrome: report of three cases. J Pediatr. 1990;117:593-595. ...
*  What is the treatment and prognosis for a child with Williams syndrome? | Reference.com
There is no known cure for Williams syndrome as of 2015, but social training, physical therapy, speech therapy, monitoring of ... What is Williams syndrome?. A: Williams syndrome is a rare genetic disorder that results in cognitive and psychological ... What are the typical facial characteristics of Williams syndrome?. A: Children with Williams syndrome, a genetic disorder that ... A Williams syndrome diagnosis can be confirmed via the fluorescent in situ hybridization, or FISH, test. Williams syndrome ...
*  People with Williams syndrome face extra risk online - The Exception Magazine
A new study finds that adults with Williams syndrome-who are extremely social and trusting-use Facebook and other social ... Fisher has studied Williams syndrome for more than a decade. She also directs an annual music camp for people with the syndrome ... A 2013 study led by Fisher found that people with Williams syndrome, autism, and Down syndrome experienced extremely high rates ... A new study finds that adults with Williams syndrome-who are extremely social and trusting-use Facebook and other social ...
Suggested citation for this article: Belay ED, Maddox RA, Williams ES, Miller MW, Gambetti P, Schonberger LB. Chronic wasting ... or Gerstmann-Straussler-Scheinker syndrome, just another CJD or human TSE, named after another human. WE are only kidding ... Ermias D. Belay,* Ryan A. Maddox,* Elizabeth S. Williams,? Michael W. Miller,? Pierluigi Gambetti,§ and Lawrence B. Schonberger ... or Gerstmann-Straussler-Scheinker syndrome, just another CJD or human TSE, named after another human. WE are only kidding ...

Austin B. Williams: Austin Beatty Williams (October 17, 1919 – October 27, 1999) was an American carcinologist, "the acknowledged expert on and leader in studies of the systematics of eastern American decapod crustaceans".}}Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).Elastin: Elastin is a highly elastic protein in connective tissue and allows many tissues in the body to resume their shape after stretching or contracting. Elastin helps skin to return to its original position when it is poked or pinched.Facies (medical): In medical contexts, a facies is a distinctive facial expression or appearance associated with specific medical conditions.Pyr1Hyperphosphatasia with mental retardation syndrome: Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.Face.com: Face.com was a Tel Aviv-based technology company that developed a platform for efficient and accurate facial recognition in photos uploaded via web and mobile applications.National Down Syndrome SocietyDouble aortic arch: Double aortic arch (DAA) is a relatively rare congenital cardiovascular malformation. DAA is an anomaly of the aortic arch in which two aortic arches form a complete vascular ring that can compress the trachea and/or esophagus.Newington Green Unitarian ChurchHemispatial neglectCreativity and mental illness: Parallels can be drawn to connect creativity to Major Mental Illnesses including: Bipolar Disorder, Schizophrenia, Depression, Anxiety Disorder, and ADHD. For example, numerous studies have demonstrated correlations between creative occupations and people living with mental illness.Evolution of human intelligence: The evolution of human intelligence refers to a set of theories that attempt to explain how human intelligence has evolved and are closely tied to the evolution of the human brain and to the origin of language.Epicanthic fold: Epicanthic fold (), epicanthal fold, epicanthus, or simply eye fold are names for a skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. Other names for this trait include plica palpebronasalis and palpebronasal fold..Discoverer 23

(1/254) Comparative mapping of the region of human chromosome 7 deleted in williams syndrome.

Williams syndrome (WS) is a complex developmental disorder resulting from the deletion of a large (approximately 1.5-2 Mb) segment of human chromosome 7q11.23. Physical mapping studies have revealed that this deleted region, which contains a number of known genes, is flanked by several large, nearly identical blocks of DNA. The presence of such highly related DNA segments in close physical proximity to one another has hampered efforts to elucidate the precise long-range organization of this segment of chromosome 7. To gain insight about the structure and evolutionary origins of this important and complex genomic region, we have constructed a fully contiguous bacterial artificial chromosome (BAC) and P1-derived artificial chromosome (PAC) contig map encompassing the corresponding region on mouse chromosome 5. In contrast to the difficulties encountered in constructing a clone-based physical map of the human WS region, the BAC/PAC-based map of the mouse WS region was straightforward to construct, with no evidence of large duplicated segments, such as those encountered in the human WS region. To confirm this difference, representative human and mouse BACs were used as probes for performing fluorescence in situ hybridization (FISH) to metaphase and interphase chromosomes. Human BACs derived from the nonunique portion of the WS region hybridized to multiple, closely spaced regions on human chromosome 7q11.23. In contrast, corresponding mouse BACs hybridized to a single site on mouse chromosome 5. Furthermore, FISH analysis revealed the presence of duplicated segments within the WS region of various nonhuman primates (chimpanzee, gorilla, orangutan, and gibbon). Hybridization was also noted at the genomic locations corresponding to human chromosome 7p22 and 7q22 in human, chimpanzee, and gorilla, but not in the other animal species examined. Together, these results indicate that the WS region is associated with large, duplicated blocks of DNA on human chromosome 7q11.23 as well as the corresponding genomic regions of other nonhuman primates. However, such duplications are not present in the mouse.  (+info)

(2/254) Williams-Beuren syndrome: genes and mechanisms.

Williams-Beuren syndrome (WBS; OMIM 194050) is caused by heterozygous deletions of approximately 1.6 Mb of chromosomal sub-band 7q11.23. The deletions are rather uniform in size as they arise spontaneously by inter- or intrachromosomal crossover events within misaligned duplicated regions of high sequence identity that flank the typical deletion. This review will discuss the status of the molecular characterization of the deletion and flanking regions, the genes identified in the deletion region and their possible roles in generating the complex multi-system clinical phenotype.  (+info)

(3/254) A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.

Williams-Beuren syndrome (WS) is a developmental disorder caused by a hemizygous microdeletion of approximately 1.4MB at chromosomal location 7q11.23. The transcription map of the WS critical region is not yet complete. We have isolated and characterised a 3.4 kb gene, GTF3, which occupies about 140 kb of the deleted region. Northern blot analysis showed that the gene is expressed in skeletal muscle and heart, and RT-PCR analysis showed expression in a range of adult tissues with stronger expression in foetal tissues. Part of the conceptual GTF3 protein sequence is almost identical to a recently reported slow muscle-fibre enhancer binding protein MusTRD1, and shows significant homology to the 90 amino-acid putative helix-loop-helix repeat (HLH) domains of the transcription factor TFII-I (encoded for by the gene GTF2I). These genes may be members of a new family of transcription factors containing this HLH-like repeated motif. Both GTF3 and GTF2I map within the WS deleted region, with GTF2I being positioned distal to GTF3. GTF3 is deleted in patients with classic WS, but not in patients we have studied with partial deletions of the WS critical region who have only supravalvular aortic stenosis. A feature of WS is abnormal muscle fatiguability, and we suggest that haploinsufficiency of the GTF3 gene may be the cause of this.  (+info)

(4/254) Second-order belief attribution in Williams syndrome: intact or impaired?

Second-order mental state attribution in a group of children with Williams syndrome was investigated. The children were compared to age, IQ, and language-matched groups of children with Prader-Willi syndrome or nonspecific mental retardation. Participants were given two trials of a second-order reasoning task. No significant differences between the Williams syndrome and Prader-Willi or mentally retarded groups on any of the test questions were found. Results contrast with the view that individuals with Williams syndrome have an intact theory of mind and suggest that in their attributions of second-order mental states, children with Williams syndrome perform no better than do other groups of children with mental retardation.  (+info)

(5/254) Cognitive modularity and genetic disorders.

This study challenges the use of adult neuropsychological models for explaining developmental disorders of genetic origin. When uneven cognitive profiles are found in childhood or adulthood, it is assumed that such phenotypic outcomes characterize infant starting states, and it has been claimed that modules subserving these abilities start out either intact or impaired. Findings from two experiments with infants with Williams syndrome (a phenotype selected to bolster innate modularity claims) indicate a within-syndrome double dissociation: For numerosity judgments, they do well in infancy but poorly in adulthood, whereas for language, they perform poorly in infancy but well in adulthood. The theoretical and clinical implications of these results could lead to a shift in focus for studies of genetic disorders.  (+info)

(6/254) A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23.

Williams-Beuren syndrome (WBS) is a developmental disorder caused by haploinsufficiency for genes in a 2-cM region of chromosome band 7q11.23. With the exception of vascular stenoses due to deletion of the elastin gene, the various features of WBS have not yet been attributed to specific genes. Although >/=16 genes have been identified within the WBS deletion, completion of a physical map of the region has been difficult because of the large duplicated regions flanking the deletion. We present a physical map of the WBS deletion and flanking regions, based on assembly of a bacterial artificial chromosome/P1-derived artificial chromosome contig, analysis of high-throughput genome-sequence data, and long-range restriction mapping of genomic and cloned DNA by pulsed-field gel electrophoresis. Our map encompasses 3 Mb, including 1.6 Mb within the deletion. Two large duplicons, flanking the deletion, of >/=320 kb contain unique sequence elements from the internal border regions of the deletion, such as sequences from GTF2I (telomeric) and FKBP6 (centromeric). A third copy of this duplicon exists in inverted orientation distal to the telomeric flanking one. These duplicons show stronger sequence conservation with regard to each other than to the presumptive ancestral loci within the common deletion region. Sequence elements originating from beyond 7q11.23 are also present in these duplicons. Although the duplicons are not present in mice, the order of the single-copy genes in the conserved syntenic region of mouse chromosome 5 is inverted relative to the human map. A model is presented for a mechanism of WBS-deletion formation, based on the orientation of duplicons' components relative to each other and to the ancestral elements within the deletion region.  (+info)

(7/254) Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I.

Retinoblastoma protein (Rb) is an important regulator of vertebrate cell cycle and development. It functions through a direct interaction with protein factors involved in cell cycle progression and differentiation. In the present study we characterized a novel Rb-associated protein, Cream1, which bound to Rb specifically through a C-terminal region. Cream1 contained 959 amino acid residues and migrated as a protein of approx. 120 kDa on SDS/PAGE. It was a widely expressed nuclear protein with a nuclear localization signal resembling that of the large T antigen of simian virus 40. Its primary sequence was characteristic of five direct repeats that were similar to, but distinct from, those of TFII-I, a multifunctional transcription regulator. Three additional regions were also highly conserved in both proteins. Cream1 exhibited an activation activity that was attributed to its N-terminal portion when assayed in yeast. Its relationship with the muscle-enhancer-binding protein MusTRD1 further suggests a role in regulating gene expression. The structural gene, CREAM1, contained 27 exons and spanned more than 150 kb. It was located at human chromosome 7q11.23 in a region deleted for Williams' syndrome, a neurodevelopmental disease with multisystem abnormalities, implying its involvement in certain disorders. Taken together, our results suggest that Cream1 might serve as a positive transcription regulator under the control of Rb.  (+info)

(8/254) A family of chromatin remodeling factors related to Williams syndrome transcription factor.

Chromatin remodeling complexes have been implicated in the disruption or reformation of nucleosomal arrays resulting in modulation of transcription, DNA replication, and DNA repair. Here we report the isolation of WCRF, a new chromatin-remodeling complex from HeLa cells. WCRF is composed of two subunits, WCRF135, the human homolog of Drosophila ISWI, and WCRF180, a protein related to the Williams syndrome transcription factor. WCRF180 is a member of a family of proteins sharing a putative heterochromatin localization domain, a PHD finger, and a bromodomain, prevalent in factors involved in regulation of chromatin structure.  (+info)

  • adults
  • A 5-day/4-night overnight camp for adults (21+) with Williams syndroe provides the opportunity to make friends, acquire new skills, and experience the traditional aspects of camp culture - field games, arts and crafts, fishing, canoeing, hiking, team building, along with music programming - in the safe and friendly environment of Camp Twin Lakes in Rutledge, GA. Campers must be physically mobile and have independent and daily living skills. (williams-syndrome.org)
  • At least twice yearly, special editions are published on educational strategies, research and medical treatment updates, strategies for adults with Williams syndrome and much more. (williams-syndrome.org)
  • The event includes an exhibit fair, more than 50 educational sessions on WIlliams syndrome, child care for very young children, camps and special day programs for school age children and teens, programs specifically for adults with WS, opportunities to participate in ongoing research and evening programs. (williams-syndrome.org)
  • The WSA hosts camps for individuals with WS, workshops and vacation opportunities for adults with WS, teen and adult social groups, and more for your children with Williams syndrome. (williams-syndrome.org)
  • The team from Michigan State University found that adults with Williams syndrome -- who are extremely social and trusting -- use Facebook and other social networking sites frequently and are especially vulnerable to online victimization. (i4u.com)
  • Nearly 86 percent of adults with Williams syndrome use social networking sites such as Facebook nearly every day, typically without supervision, found the study published in the Journal of Intellectual Disability Research. (i4u.com)
  • Many adults with the syndrome live with their parents or other caregivers. (exceptionmag.com)
  • The current study is the first to investigate the online risk of victimization for adults with Williams syndrome. (exceptionmag.com)
  • While the internet provides an opportunity to enhance the everyday lives of adults with Williams syndrome, it also poses threats that are arguably more dangerous than those they face in the real world, the study concludes. (exceptionmag.com)
  • visuospatial
  • Thus, individuals with Williams syndrome are often able to visually identify and recognize whole objects, and refer to them by name, but struggle with visuospatial construction (seeing an object as being composed of many smaller parts, and recreating it) and orienting themselves in space. (wikipedia.org)
  • abdominal pain
  • some of the major medical conditions that affect the life span of children diagnosed with Williams syndrome include abdominal pain, heart failure as a result of narrowed blood vessels and calcium deposits in the kidney. (reference.com)
  • abilities
  • However, other evidence from developmental studies has been presented (most famously by Pinker) as supporting a language module, namely the purported dissociation between Specific Language Impairment (SLI), where language is disrupted whilst other mental abilities are not, and Williams Syndrome (WS) where language is said to be spared despite severe mental deficits. (wikipedia.org)
  • manifest
  • This rare syndrome was originally thought to manifest itself as abnormally low IQ, accompanied by "normal" ability to process social cues. (wikipedia.org)
  • significantly
  • An appropriate can only be done when you about the symptoms .Williams syndrome may have specific symptoms that significantly impact health and development. (onlymyhealth.com)
  • clarification needed] In another experiment, it was shown that subjects with Williams syndrome performed significantly worse compared to control subjects in multiple parameters such as visuo-spatial memory, general spatial function, and procedural competence. (wikipedia.org)