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Williams syndrome

Deletions in the elastin gene (located at 7qll.23) have been found in approximately 90% of subjects with Williams syndrome, a developmental disorder affecting connective tissue and the central nervous system. The mutations, by affecting synthesis of elastin, probably play a causative role in the supravalvular aortic stenosis often found in this condition. A number of skin diseases (eg, scleroderma) are associated with accumulation of elastin. Fragmentation or, alternatively, a decrease of elastin is found in conditions such as pulmonary emphysema, cutis laxa, and aging of the skin. [Pg.539]

Foot RA, Bozhenok L, van den Berg DL, Steffensen S, Ferreira F, Grimaldi M, Gilbert N, Ferreira J, Varga-Weisz PD (2004) The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWl to replication foci. Nat Cell Biol 6 1236-1244... [Pg.42]

Other important diseases caused by deletions include Williams syndrome, Wolf-Hirschhorn syndrome, DiCeorge syndrome, Wilms tumor, and the Prader-Willi and Angelman syndromes (see Chapter )) ... [Pg.320]

WCRF hSnfZh WCRF180 WCRF180 is closely related to WSTF a gene deleted in Williams syndrome... [Pg.426]

WICH hSNF2h (xISWI) Williams Syndrome Transcription Localized to heterochromatic replication foci [297]. Some ISWI remains... [Pg.426]

Bochar, D.A., Savard, J., Wang, W., Lafleur, D.W., Moore, P., Cote, J., and Shiekhattar, R. (2000) A family of chromatin remodeling factors related to Williams syndrome transcription factor. Proc. Natl. Acad. Sci. USA 97, 1038-1043. [Pg.463]

Karmiloff-Smith People with autism have shorter inspection times than controls matched on IQ. People with Williams syndrome take significantly longer. Those with Down s syndrome fall between the two. This left me with questions about what the task was measuring. [Pg.75]

Karmiloff-Smith I would like to come back to the issue about whether it is possible to differentiate different phenotypes on the basis of psychometric tests. In my field we have to use psychometric tests because there is no other acceptable way of matching different phenot ypes. Take the Wechsler adult intelligence scale (WAIS) if you look at the pattern of scores on individual subtasks, we find different patterns for Down s syndrome, Williams syndrome and autism, for example, despite the same overall score. But non-standardized tests differentiate these phenotypes far better. [Pg.147]

We also had some useful discussion about the fact that the presence of a special skill does not necessarily imply a rigid modularity. Moreover, the point was made that, in the study of special groups (whether they be individuals with Williams syndrome or autism or severe language delay), the findings have often led to an appreciation that the special skills or deficits are often rather broader than expected on the basis of the traditional concepts as they applied a generation ago. [Pg.283]

Williams syndrome Cancer-associated mar binding protein... [Pg.535]

Meyer-Lindenberg A, Hariri AR, Munoz KE, Mervis CB, Mattay VS, Morris CA, Berman KF (2005) Neural correlates of genetically abnormal social cognition in Williams syndrome. Nat Neurosci 8 991-993. [Pg.172]

There are several FKBP genes reported to have a defective function in inherited diseases, such as the Williams Beuren syndrome (Williams syndrome) and Leber s congenital amaurosis for FKBP36 (FKBP6) and FKBP44 (AIPL1) mutations, respectively [97-99],... [Pg.208]

Pani, A. M., H. H. Hobart, C. A. Morris, G. B. Mervis, P. Bray-Ward, K. W. Kimberley, C. M. Rios, R. C. Clark, M. D. Gulbronson, G. C. Gowans, and R. G. Gregg. 2011. Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome. PLoS One 5 12349. [Pg.112]

Fig. 19.3. Diagnostic flow-chart for patients with coarse Hurler-like face. Coffin-Lowry syndrome (MIM 303300) Coffin-Siris syndrome (MIM 135900) frontometaphyseal dysplasia (MIM 305620) Sotos syndrome (MIM 117550) Williams syndrome (MIM 194050) multiple neuroma syndrome (MIM 171400) pachydermoperiostosis (MIM 167100) acromegaloid facial appearance syndrome (MIM 102150) Costello syndrome (MIM 218040) Patterson David syndrome (MIM 169170) Schinzel-Giedeon syndrome (MIM 269150) Fountain syndrome (MIM 229120) Pallister-Killian syndrome (MIM 601803) Simpson-Golabi-Behmel syndrome (MIM 312870) congenital hypothyroidism. Sialic acid storage disease, a lysosomal transport defect (Chap. 20) should also be considered in the differential diagnosis... Fig. 19.3. Diagnostic flow-chart for patients with coarse Hurler-like face. Coffin-Lowry syndrome (MIM 303300) Coffin-Siris syndrome (MIM 135900) frontometaphyseal dysplasia (MIM 305620) Sotos syndrome (MIM 117550) Williams syndrome (MIM 194050) multiple neuroma syndrome (MIM 171400) pachydermoperiostosis (MIM 167100) acromegaloid facial appearance syndrome (MIM 102150) Costello syndrome (MIM 218040) Patterson David syndrome (MIM 169170) Schinzel-Giedeon syndrome (MIM 269150) Fountain syndrome (MIM 229120) Pallister-Killian syndrome (MIM 601803) Simpson-Golabi-Behmel syndrome (MIM 312870) congenital hypothyroidism. Sialic acid storage disease, a lysosomal transport defect (Chap. 20) should also be considered in the differential diagnosis...
Hy percalciaemia -Williams syndrome -Distal tubular acidosis -Hyperparathyroidism (3)... [Pg.360]

Coe FL, Parks JH, Asplin JR (1992) The pathogenesis and treatment of kidney stones. N Engl J Med 327 1141-1152 Cote G, Jequier S, Kaplan P (1989) Increased renal medullary echogenicity in patients with Williams syndrome. Pediatr Radiol 19 481-483... [Pg.398]


See other pages where Williams syndrome is mentioned: [Pg.33]    [Pg.39]    [Pg.343]    [Pg.1626]    [Pg.137]    [Pg.147]    [Pg.76]    [Pg.142]    [Pg.147]    [Pg.199]    [Pg.263]    [Pg.713]    [Pg.692]    [Pg.535]    [Pg.606]    [Pg.647]    [Pg.293]    [Pg.418]    [Pg.210]   
See also in sourсe #XX -- [ Pg.539 ]




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Williams-Beuren syndrome

William’s syndrome

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