Abstract:
BACKGROUND:Bicuspid aortic valve (BAV) is the most common type of congenital heart disease (CHD) and has a proposed genetic etiology. BAV is categorized by cusp fusion, with right-left (R-L) cusp fusion being associated with additional CHD, and right-noncoronary cusp (R-NC) fusion being associated with aortic valve dysfunction. Loss of murine Gata5, which encodes a cardiac transcription factor, results in a partially penetrant R-NC BAV, and we hypothesize that mutations in GATA5 are associated with R-NC BAV in humans. METHODS:A cohort of 78 BAV patients (50 with isolated BAV and 28 with associated aortic coarctation) was analyzed using Sanger sequencing to identify GATA5 sequence variants. Biochemical assays were performed to identify functional deficits of identified sequence variants. RESULTS:We identified two rare heterozygous nonsynonymous variants, p.Gln3Arg and p.Leu233Pro, for a frequency of 2.6% (2/78). Both individuals with nonsynonymous variants had BAV and aortic coarctation, one R-L and one R-NC subtype. Of the nonsynonymous variants, only p.Gln3Arg demonstrated decreased transcriptional activity in vitro. CONCLUSION:Rare sequence variants in GATA5 are associated with human BAV. Our findings suggest a genotype-phenotype correlation in regards to associated CHD but not cusp fusion.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
Bonachea EM,Chang SW,Zender G,LaHaye S,Fitzgerald-Butt S,McBride KL,Garg Vdoi
10.1038/pr.2014.67subject
Has Abstractpub_date
2014-08-01 00:00:00pages
211-6issue
2eissn
0031-3998issn
1530-0447pii
pr201467journal_volume
76pub_type
杂志文章abstract::The present study was performed to investigate simultaneously total lung water, T(1) and T(2) relaxation times, and hyaluronan (HA) in preterm and term rabbits. Attempts were also made to establish the relationship of HA to total lung water and to T(2)-derived motionally distinct water fractions. Experiments were perf...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200010000-00022
更新日期:2000-10-01 00:00:00
abstract::Growth hormone (GH) regulates growth and development in the postnatal period but lacks somatotropic activity in the fetus. In contrast, the placental hormone placental lactogen (PL) stimulates amino acid transport, DNA synthesis, and somatomedin production in isolated fetal tissues, suggesting that PL may function as ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199208000-00015
更新日期:1992-08-01 00:00:00
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journal_title:Pediatric research
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更新日期:2006-09-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200008000-00018
更新日期:2000-08-01 00:00:00
abstract::A new animal experimental model of human neuroblastoma is described. The model involves xenotransplantation of a poorly differentiated human neuroblastoma cell line (SH-SY5Y) to the subcutaneous tissue in the hind leg of nude rats (WAG mu/rnu). Injection of 20 million cells suspended in 0.2 mL of medium in each hind l...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199703000-00004
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abstract::Twelve-h overnight urine and serum samples obtained simultaneously at 20-min intervals were assayed for growth hormone (GH). Ninety-one children, 5 to 16 y (Tanner stage 1 to 3) participated; group 1 were healthy children, group 2 were children with organic GH deficiency, and group 3 had idiopathic growth failure and ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199106010-00019
更新日期:1991-06-01 00:00:00
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更新日期:2005-10-01 00:00:00
abstract::We have investigated the impaired secretion response of neonatal platelets. We compared the response of washed neonatal and adult platelets to thrombin and collagen, and to specific activators of calcium flux (inositol trisphosphate) and protein kinase C activation (oleoyl-acetyl glycerol). Neonatal platelets show no ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199004000-00004
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abstract::Milk gangliosides inhibit Vibrio cholerae enterotoxin and Escherichia coli heat-labile enterotoxin. Human milk gangliosides showed considerably higher enterotoxin-inhibitory activity compared to bovine and formula milk gangliosides as measured in vitro by enzyme-linked immunosorbent assay and in vivo in rabbit small b...
journal_title:Pediatric research
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doi:10.1203/00006450-198605000-00008
更新日期:1986-05-01 00:00:00
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journal_title:Pediatric research
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doi:10.1203/00006450-199309000-00022
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199603000-00007
更新日期:1996-03-01 00:00:00
abstract::We studied healthy and saline lavaged rabbits during high frequency oscillatory ventilation to determine what combination of frequency (f), tidal volume (Vt), and mean airway pressure (Paw) produced the lowest peak-to-peak alveolar pressure amplitude (Palv) and physiologic blood gas tensions. Sinusoidal volume changes...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199001000-00018
更新日期:1990-01-01 00:00:00
abstract:BACKGROUND:To investigate whether the YAP/TAZ (Yes-associated protein/transcriptional coactivator with PDZ binding motif) pathway contributes to the pathogenesis of lymphatic malformations (LMs). METHODS:YAP, TAZ, CTGF (connective tissue growth factor), and Ki-67 were detected in LMs by immunohistochemistry. The coloc...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-0863-0
更新日期:2020-04-12 00:00:00
abstract::Neonatal group B streptococcal (GBS) sepsis produces pulmonary arterial hypertension and hypoxemia that are preventable by pretreatment with the selective thromboxane A2 synthase inhibitor, dazmegrel. In the present experiment we administered dazmegrel (8 mg/kg) 2 h after the initiation of a 2 1/2 h infusion of 5 X 10...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198804000-00003
更新日期:1988-04-01 00:00:00
abstract::To examine uridine diphosphate hexose (UDPhexose) content of cells that have more complete metabolic patterns than erythrocytes, which have been commonly used in the study of galactosemia, the concentrations of uridine diphosphate galactose (UDPgalactose) and uridine diphosphate glucose (UDPglucose) were determined in...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199411000-00014
更新日期:1994-11-01 00:00:00
abstract::Recent studies have shown 1,25(OH)2D3 receptor-mediated modulation of leukocyte proliferation, differentiation, and function. We examined the phagocytosis and killing of microorganisms by neutrophils and monocytes from five patients of three families with hereditary resistance to 1,25(OH)2D3. Phagocytosis of microorga...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198903000-00012
更新日期:1989-03-01 00:00:00
abstract::The possible role played by albumin in regulating brain metabolism during development has been studied. The effects of fatty acid-free BSA on lactate, glucose, 3-hydroxybutyrate, and glutamine oxidation and lipogenesis by rat neurons and astrocytes from primary culture were studied. The rate of lactate oxidation and l...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199312000-00002
更新日期:1993-12-01 00:00:00
abstract::BackgroundTo investigate the association between electronic cigarette (e-cig) use and smoking cessation among smokers who called the Youth Quitline in Hong Kong.MethodsThis longitudinal study collected data on youth smokers' (N=189) use and perception of e-cigs, conventional cigarette smoking behavior, and sociodemogr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.80
更新日期:2017-07-01 00:00:00
abstract::Endothelin (ET)-1 is a potent vasoconstrictor peptide that modulates basal pulmonary vascular resistance (PVR) in the normal ovine fetus and contributes to high PVR after chronic intrauterine pulmonary hypertension. Although high PVR is present in premature lambs with severe hyaline membrane disease (HMD), whether ET-...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199808000-00006
更新日期:1998-08-01 00:00:00
abstract:BACKGROUND:To systematically evaluate short-term efficacy of UCM versus other interventions in preterm infants. METHODS:Six engines were searched until February 2020 for randomized controlled trials (RCTs) assessing UCM versus immediate cord clamping (ICC), delayed cord clamping (DCC), or no intervention. Primary outc...
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pub_type: 杂志文章,评审
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更新日期:2020-04-21 00:00:00
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doi:10.1203/01.PDR.0000061563.63230.86
更新日期:2003-06-01 00:00:00
abstract:BACKGROUND:Neonatal seizures can result in chronic epilepsy and long-term behavioral and cognitive deficits. Levetiracetam (LEV), an antiepileptic drug that binds to the synaptic vesicle protein 2A (SV2A), has been increasingly used off-label for the therapy of neonatal seizures. Preclinical data regarding the acute or...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2012.151
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:Near-infrared spectroscopy (NIRS) is an upcoming clinical method for monitoring regional cerebral oxygen saturation (rScO2) in neonates. There is a growing market offering different devices and sensors. Even though this technique is increasingly clinically applied, little is known about the similarities and/...
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pub_type: 杂志文章
doi:10.1038/pr.2013.133
更新日期:2013-11-01 00:00:00
abstract::Newly identified forms of electron transfer flavoprotein (ETF) deficiency in two patients with glutaric aciduria type II (GA II) were described. GA II has been attributed to a defect of either ETF or ETF dehydrogenase, resulting in multiple acyl-CoA dehydrogenation deficiency. ETF is a mitochondrial flavoprotein consi...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199101000-00012
更新日期:1991-01-01 00:00:00
abstract::Neutrophils contribute to ischemic brain injury in adult animals. The role of neutrophils in perinatal hypoxic-ischemic (HI) brain injury is unknown. Allopurinol reduces neutrophil accumulation after tissue ischemia and is protective against HI brain injury. This study was designed to investigate how neutrophils contr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199705000-00002
更新日期:1997-05-01 00:00:00
abstract:BACKGROUND:This study aimed to assess cortical gray matter growth and maturation in neonates with congenital heart disease (CHD). METHODS:Thirty-one (near) term neonates with severe CHD (8 univentricular heart malformation (UVH), 21 d-transposition of great arteries (d-TGA) and 2 aortic coarctation) underwent cerebral...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2016.145
更新日期:2016-11-01 00:00:00
abstract:BACKGROUND:The rate of accrual of muscle mass in neonates has not been assessed. We describe the D3-creatine (D3Cr) dilution method, a noninvasive assessment of muscle mass in neonates. METHODS:A total of 76 neonates >26-week-old corrected gestational age were enrolled and measured at 2-week intervals while admitted t...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-01122-w
更新日期:2020-09-12 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0690-3
更新日期:2020-07-01 00:00:00
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journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-018-0048-2
更新日期:2018-11-01 00:00:00
abstract::Meconium aspiration syndrome is a serious condition of the newborn characterized by pulmonary inflammation with substantial neutrophil infiltration. We recently showed that meconium is a potent activator of complement. The aim of the present study was to investigate a possible role for complement in meconium-induced n...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000150725.78971.30
更新日期:2005-02-01 00:00:00