Abstract:
:DGCR6 is the most centromeric gene in the human DiGeorge critical region and is the only gene in the region with a second functional copy on a repeat localized more distally on chromosome 22. We isolated the chicken ortholog of DGCR6 and showed an embryonic expression pattern that is initially broad but becomes gradually restricted to neural crest cell derivatives of the cardiovasculature. Retrovirus based gene transduction was used to deliver sense and antisense messages to premigrating neural crest cells in vivo. Embryos in which DGCR6 expression was attenuated revealed cardiovascular anomalies reminiscent of those found in DiGeorge syndrome. Moreover, the expression profiles of three other genes from the DiGeorge critical region, TBX-1, UFD1L, and HIRA, were shown to be altered in this model. TBX-1 and UFD1L levels were increased, whereas HIRA was decreased in the hearts and pharyngeal arches of embryos treated with antisense or partial sense constructs, but not with sense constructs for DGCR6. The expression changes were transient and followed the normal DGCR6 expression profile. These data show that neural crest cells might have a role in the distribution of modulator signals to the heart and pharyngeal arches. Moreover, it shows a repressor function for DGCR6 on the expression of TBX-1 and UFD1L. For the first time, DiGeorge syndrome is shown to be a contiguous gene syndrome in which not only several genes from the critical region, but also different cell types within the embryo, interact in the development of the phenotype.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Hierck BP,Molin DG,Boot MJ,Poelmann RE,Gittenberger-de Groot ACdoi
10.1203/01.PDR.0000136151.50127.1Csubject
Has Abstractpub_date
2004-09-01 00:00:00pages
440-8issue
3eissn
0031-3998issn
1530-0447pii
56/3/440journal_volume
56pub_type
杂志文章abstract:BACKGROUND:Aminoglycoside exposure is a common cause of acute kidney injury (AKI). Delay in the diagnosis of AKI using conventional biomarkers has been one of the important obstacles in applying early effective interventions. We tested the hypothesis that urinary metabolomics could identify novel early biomarkers for t...
journal_title:Pediatric research
pub_type: 杂志文章
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更新日期:2013-05-01 00:00:00
abstract:BACKGROUND:Children born preterm, especially boys, are at increased risk of developing attention deficit hyperactivity disorder (ADHD) and learning difficulties. We propose that neurosteroid-replacement therapy with ganaxolone (GNX) following preterm birth may mitigate preterm-associated neurodevelopmental impairment. ...
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pub_type: 杂志文章
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abstract::An increase in polymorphonuclear leukocytes (PMNs) and proinflammatory chemokines, such as IL-8 and macrophage inflammatory protein-1 alpha (MIP), are found in the airways during early stages of bronchopulmonary dysplasia. We determined whether IL-10 produces a dose-related inhibition of proinflammatory chemokine rele...
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更新日期:2003-09-01 00:00:00
abstract::Young adult macrosomic offspring of streptozotocin-induced mildly hyperglycemic rats exhibit accelerated growth through the first 10 wk of age. At 10 wk, oral glucose loading resulted in elevated plasma insulin and glucose concentrations compared to controls. To assess the mechanism of the abnormal glucose tolerance i...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199107000-00008
更新日期:1991-07-01 00:00:00
abstract::We studied chloride efflux from isolated rabbit pancreatic acini in suspension, by loading with 36Cl to steady state and rapidly washing acini by filtration to determine 36Cl cpm/micrograms DNA remaining. Linear loss of acinar chloride occurred over 5 min (k = 0.038 +/- 0.008 min-1, n = 5). Forskolin (5 x 10(-5) M) in...
journal_title:Pediatric research
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journal_title:Pediatric research
pub_type: 历史文章,杂志文章,评审
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更新日期:1993-01-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199005000-00007
更新日期:1990-05-01 00:00:00
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journal_title:Pediatric research
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更新日期:1984-07-01 00:00:00
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doi:10.1203/00006450-198101000-00014
更新日期:1981-01-01 00:00:00
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journal_title:Pediatric research
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journal_title:Pediatric research
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更新日期:2020-01-01 00:00:00
abstract::Plasma antioxidant status and total radical-trapping antioxidant potential (TRAP) of children (n = 24) with cystic fibrosis (CF) were compared with those of children (n = 21) without the disease. Children with CF were found to have elevated plasma concentrations of ascorbic acid (94.6 +/- 58.2 mumol/L), with respect t...
journal_title:Pediatric research
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更新日期:1993-03-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000147572.57627.AE
更新日期:2005-01-01 00:00:00
abstract::Since the description of bronchopulmonary dysplasia (BPD) in premature infants, the supplemental oxygen administered has been suspect in the etiology of BPD. This has prompted studies on the effect of hyperoxia on lung growth in neonatal animals. So far, these have not led to a treatment which either prevents or mitig...
journal_title:Pediatric research
pub_type: 杂志文章
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198805000-00003
更新日期:1988-05-01 00:00:00
abstract::We investigated, using a human placental choriocarcinoma cell line as a model, the effects of the immunosuppressive drug cyclosporin A on several placental transport systems mediating the transfer of glucose and amino acids from mother to fetus. The results of the investigation show that the transport system responsib...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199207000-00024
更新日期:1992-07-01 00:00:00
abstract::Lipase activities were measured at pH 4 and pH 8 in the placentas of rats made diabetic by streptozotocin treatment and also in the placentas of women classified as having 1) impaired glucose tolerance or type 2 diabetes, 2) type 1 diabetes with no associated vascular complication, and 3) type 1 diabetes with associat...
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更新日期:1991-12-01 00:00:00
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更新日期:1980-05-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
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更新日期:2020-05-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197702000-00006
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199712000-00002
更新日期:1997-12-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000050657.56817.E0
更新日期:2003-03-01 00:00:00
abstract::In seven patients with mucopolysaccharidoses (1 Hurler, 1 Hurler-Scheie, 4 Hunter, 1 Sly), cranial (1)H-magnetic resonance spectroscopy was performed to evaluate the accumulation of mucopolysaccharides and biochemical changes in the CNS in vivo before and after bone marrow transplantation (BMT). In two of seven patien...
journal_title:Pediatric research
pub_type: 杂志文章
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更新日期:2001-03-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
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更新日期:1984-10-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199704000-00007
更新日期:1997-04-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2015.192
更新日期:2016-01-01 00:00:00