Supravalvular Aortic Stenosis in Association with Mental Retardation and a Certain Facial Appearance

Beuren, A. J.; Apitz, J; Harmjanz, D

doi:10.1161/01.cir.26.6.1235

Cited by 426 publications

(200 citation statements)

References 15 publications

(1 reference statement)

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“…We demonstrated a direct relationship between impaired elastogenesis and heightened proliferation of human aortic SMCs derived from patients with supravalvular aortic stenosis and Williams-Beuren syndrome, 80 both of which are characterized by haploinsufficiency of the elastin gene and by development of arterial occlusions. 81,82 We also reported the association between impaired elastogenesis and heightened cellular proliferation in a mechanism leading to the development of hypertrophic cardiopathy and arterial occlusions in Hurler's disease and Costello syndrome. 63, 64 We further found that insoluble elastin is capable of sequestering certain mitogenic growth factors, including PDGF 28 and that heightened proliferation of cultured arterial SMCs and fibroblasts from patients with supravalvular aortic stenosis and Williams-Beuren syndrome could be reversed by the addition of exogenous insoluble elastin.…”

Section: Figure 5 Results Of [mentioning

confidence: 90%

Neuraminidase-1, a Subunit of the Cell Surface Elastin Receptor, Desialylates and Functionally Inactivates Adjacent Receptors Interacting with the Mitogenic Growth Factors PDGF-BB and IGF-2

Hinek

Bodnaruk

Bunda

et al. 2008

The American Journal of Pathology

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We recently established that the elastin-binding protein, which is identical to the spliced variant of ␤-galactosidase, forms a cell surface-targeted complex with two proteins considered "classic lysosomal enzymes": protective protein/cathepsin A and neuraminidase-1 (Neu1). We also found that cell surface-residing Neu1 can desialylate neighboring microfibrillar glycoproteins and facilitate the deposition of insoluble elastin, which contributes to the maintenance of cellular quiescence. Here we provide evidence that cell surfaceresiding Neu1 contributes to a novel mechanism that limits cellular proliferation by desialylating cell membrane-residing sialoglycoproteins that directly propagate mitogenic signals. We demonstrated that treatment of cultured human aortic smooth muscle cells (SMCs) with either a sialidase inhibitor or an antibody that blocks Neu1 activity induced significant up-regulation in SMC proliferation in response to fetal bovine serum. Conversely, treatment with Clostridium perfringens neuraminidase (which is highly homologous to Neu1) decreased SMC proliferation, even in cultures that did not deposit elastin. Further, we found that pretreatment of aortic SMCs with exogenous neuraminidase abolished their mitogenic responses to recombinant platelet-derived growth factor (PDGF)-BB and insulin-like growth factor (IGF)-2 and that sialidosis fibroblasts (which are exclusively deficient in Neu1) were more responsive to PDGF-BB and IGF-2 compared with normal fibroblasts. Furthermore , we provide direct evidence that neuraminidase caused the desialylation of both PDGF and IGF-1 receptors and diminished the intracellular signals induced by the mitogenic ligands

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Section: Figure 5 Results Of [mentioning

confidence: 90%

Neuraminidase-1, a Subunit of the Cell Surface Elastin Receptor, Desialylates and Functionally Inactivates Adjacent Receptors Interacting with the Mitogenic Growth Factors PDGF-BB and IGF-2

Hinek

Bodnaruk

Bunda

et al. 2008

The American Journal of Pathology

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“…Williams syndrome (WS) is a well defined developmental disorder that is characterized by distinctive facial features, growth deficiency, mental retardation, a gregarious personality, congenital heart defects (particularly supravalvular aortic stenosis [SVAS] with or without peripheral pulmonary stenosis), and hypercalcemia of early infancy (Williams et al 1961, Beuren et al 1962, Morris et al 1988. Generally, seizures are not associated with WS.…”

Section: Introductionmentioning

confidence: 99%

Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms

et al. 1998

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Interstitial deletion of 7q11.23-q21.11 was identified by cytogenetic methods in a 4-year-old boy with Williams syndrome (WS) and infantile spasms. Deletion of the elastin (ELN) gene and the DNA polymorphic markers, D7S1870, D7S2490, D7S2518, and D7S2421, were identified in the patient, but the loci for D7S653 and D7S675 were not involved. Zackowski et al. (1990) reported that 6 of 16 patients with the interstitial deletion of 7q11.2-q22 had abnormal electro encephalograms, or seizures, or both, and that infantile spasms were present in 2 of the 6 patients. WS is a well defined developmental disorder characterized by distinct facial features, gregarious personality, and congenital heart defects. Seizures are not generally associated with this syndrome. WS commonly is characterized by deletion of the loci for ELN and D7S1870, but not those for D7S2490, D7S2518, or D7S2421. This suggests that a gene responsible for infantile spasms is located in the 2.7-cM interval between loci D7S1870 and D7S675.

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“…It gives rise to specific physical, behavioural and cognitive abnormalities, page 10 together with structural, chemical and functional anomalies in the developing brain (Bellugi, Wang & Jernigan, 1994;Grice et al, 2001;Mervis, Morris, Bertrand & Robinson, 1999;Rae, Karmiloff-Smith, Lee, Dixon, Grant, Blamire, Thompson, Styles & Radda, 1998). The syndrome was initially reported by cardiologists (Beuren, Apitz & Harmjanz, 1962;Williams, Barratt-Boyes & Lowe, 1961) (Black & Bonham-Carter, 1963). …”

Section: A Specific Example: Williams Syndromementioning

confidence: 99%

What can developmental disorders tell us about the neurocomputational constraints that shape development? The case of Williams syndrome

Karmiloff‐Smith

Thomas

2003

Dev Psychopathol

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The uneven cognitive phenotype in the adult outcome of Williams syndrome has led some researchers to make strong claims about the modularity of the brain and the purported genetically determined, innate specification of cognitive modules. Such arguments have particularly been marshalled with respect to language. We challenge this direct generalisation from adult phenotypic outcomes to genetic specification, and consider instead how genetic disorders provide clues to the constraints on plasticity that shape the outcome of development. We specifically examine behavioural studies, brain imaging and computational modelling of language in Williams syndrome, but contend that our theoretical arguments apply equally to other cognitive domains and other developmental disorders. While acknowledging that selective deficits in normal adult patients might justify claims about cognitive modularity, we question whether similar, seemingly selective deficits found in genetic disorders can be used to argue that such cognitive modules are pre-specified in infant brains. Cognitive modules are, in our view, the outcome of development, not its starting point. We note that most work on genetic disorders ignores one vital factor: the actual process of ontogenetic development, and argue that it is vital to view genetic disorders as proceeding under different neurocomputational constraints, not as demonstrations of static modularity.

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Supravalvular Aortic Stenosis in Association with Mental Retardation and a Certain Facial Appearance

Cited by 426 publications

References 15 publications

Neuraminidase-1, a Subunit of the Cell Surface Elastin Receptor, Desialylates and Functionally Inactivates Adjacent Receptors Interacting with the Mitogenic Growth Factors PDGF-BB and IGF-2

Neuraminidase-1, a Subunit of the Cell Surface Elastin Receptor, Desialylates and Functionally Inactivates Adjacent Receptors Interacting with the Mitogenic Growth Factors PDGF-BB and IGF-2

Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms

What can developmental disorders tell us about the neurocomputational constraints that shape development? The case of Williams syndrome

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