Syndromes of asplenia and polysplenia. A review of cardiac and non-cardiac malformations in 60 cases withspecial reference to diagnosis and prognosis.

Rose, Vera; Izukawa, T; Moës, C. A. F.

doi:10.1136/hrt.37.8.840

Cited by 359 publications

(172 citation statements)

References 18 publications

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“…Other asplenic mouse models, such as those mutant for Hox11 (Tlx1 -Mouse Genome Informatics) (Roberts et al, 1994;Dear et al, 1995), display asplenia as the sole organ abnormality. Likewise, in humans, asplenia may present as the sole organ anomaly, without perturbations of LR asymmetry 3114 (Rose et al, 1975;Waldman et al, 1977). Overall, these findings underscore the notion that, both in mice and humans, mechanisms other than the regulation of LR asymmetry must be responsible for the control of splenic cell fate specification and morphogenesis.…”

Section: Introductionsupporting

confidence: 50%

APbx1-dependent genetic and transcriptional network regulates spleen ontogeny

et al. 2005

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The genetic control of cell fate specification, morphogenesis and expansion of the spleen, a crucial lymphoid organ, is poorly understood. Recent studies of mutant mice implicate various transcription factors in spleen development,but the hierarchical relationships between these factors have not been explored. In this report, we establish a genetic network that regulates spleen ontogeny, by analyzing asplenic mice mutant for the transcription factors Pbx1, Hox11 (Tlx1), Nkx3.2 (Bapx1) and Pod1 (capsulin, Tcf21). We show that Hox11 and Nkx2.5, among the earliest known markers for splenic progenitor cells, are absent in the splenic anlage of Pbx1homozygous mutant (-/-) embryos, implicating the TALE homeoprotein Pbx1 in splenic cell specification. Pbx1 and Hox11genetically interact in spleen formation and loss of either is associated with a similar reduction of progenitor cell proliferation and failed expansion of the splenic anlage. Chromatin immunoprecipitation assays show that Pbx1 binds to the Hox11 promoter in spleen mesenchymal cells, which co-express Pbx1 and Hox11. Furthermore, Hox11 binds its own promoter in vivo and acts synergistically with TALE proteins to activate transcription,supporting its role in an auto-regulatory circuit. These studies establish a Pbx1-Hox11-dependent genetic and transcriptional pathway in spleen ontogeny. Additionally, we demonstrate that while Nkx3.2 and Pod1 control spleen development via separate pathways, Pbx1genetically regulates key players in both pathways, and thus emerges as a central hierarchical co-regulator in spleen genesis.

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Section: Introductionsupporting

confidence: 50%

APbx1-dependent genetic and transcriptional network regulates spleen ontogeny

et al. 2005

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“…In humans, heterotaxia is a clinically and genetically heterogeneous disorder that is associated with a broad range of cardiac malformations. It occurs in approximately one in 10,000 live born infants or 1% Development 132 (6) Research article Cited2 and heart morphogenesis of children with congenital heart disease, and common cardiac manifestations are complex, including TGA, DORV or AV septal defects (Hutchins et al, 1983;Rose et al, 1975;Ruttenberg et al, 1964;Van Mierop and Wiglesworth, 1962). Thus, the Cited2-null embryo provides a useful model with which to investigating the etiology of heterotaxia in humans.…”

Section: Cited2 and The Establishment Of Lateralitymentioning

confidence: 99%

Cited2is required both for heart morphogenesis and establishment of the left-right axis in mouse development

Weninger

Floro

Bennett³

et al. 2005

Development

119

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Establishment of the left-right axis is a fundamental process of vertebrate embryogenesis. Failure to develop left-right asymmetry leads to incorrect positioning and morphogenesis of numerous internal organs, and is proposed to underlie the etiology of several common cardiac malformations. The transcriptional modulator Cited2 is essential for embryonic development: Cited2-null embryos die during gestation with profound developmental abnormalities, including cardiac malformations, exencephaly and adrenal agenesis. Cited2 is also required for normal establishment of the left-right axis; we demonstrate that abnormal heart looping and right atrial and pulmonary isomerism are consistent features of the left-right-patterning defect. We show by gene expression analysis that Cited2 acts upstream of Nodal, Lefty2 and Pitx2 in the lateral mesoderm,and of Lefty1 in the presumptive floor plate. Although abnormal left-right patterning has a major impact on the cardiac phenotype in Cited2-null embryos, laterality defects are only observed in a proportion of these embryos. We have therefore used a combination of high-resolution imaging and three-dimensional (3D) modeling to systematically document the full spectrum of Cited2-associated cardiac defects. Previous studies have focused on the role of Cited2in cardiac neural crest cell development, as Cited2 can bind the transcription factor Tfap2, and thus affect the expression of Erbb3 in neural crest cells. However, we have identified Cited2-associated cardiac defects that cannot be explained by laterality or neural crest abnormalities. In particular, muscular ventricular septal defects and reduced cell density in the atrioventricular (AV) endocardial cushions are evident in Cited2-null embryos. As we found that Cited2 expression tightly correlated with these sites, we believe that Cited2 plays a direct role in development of the AV canal and cardiac septa. We therefore propose that, in addition to the previously described reduction of cardiac neural crest cells, two other distinct mechanisms contribute to the spectrum of complex cardiac defects in Cited2-null mice; disruption of normal left-right patterning and direct loss of Cited2 expression in cardiac tissues.

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“…Cardiac anomalies are found in most patients and typically are interruption of the inferior vena cava with azygos connection, partial anomalous pulmonary venous connection, common atrioventricular canal, and conotruncal anomaly such as double outlet right ventricle or transposition of great artery (Van Mierop et al 1972; Rose et al 1975; Peoples et al 1983;Harada 1992). However, among such abnormalities, persistent truncus arteriosus with common atrioventricular canal has not been included.…”

mentioning

confidence: 99%