Abstract:
:Over 50% of patients with 22q11.2 deletion syndrome (DS) have a conotruncal or related cardiac defect (CTRD). We hypothesized that similar genetic variants, developmental pathways and biological functions, contribute to disease risk for CTRD in patients without a 22q11.2 deletion (ND-CTRD) and with a 22q11.2 deletion (DS-CTRD). To test this hypothesis, we performed rare CNV (rCNV)-based analyses on 630 ND-CTRD cases and 602 DS-CTRD cases with comparable cardiac lesions separately and jointly. First, we detected a collection of heart development related pathways from Gene Ontology and Mammalian Phenotype Ontology analysis. We then constructed gene regulation networks using unique genes collected from the rCNVs found in the ND-CTRD and DS-CTRD cohorts. These gene networks were clustered and their predicted functions were examined. We further investigated expression patterns of those unique genes using publicly available mouse embryo microarray expression data from single-cell embryos to fully developed hearts. By these bioinformatics approaches, we identified a commonly shared gene expression pattern in both the ND-CTRD and DS-CTRD cohorts. Computational analysis of gene functions characterized with this expression pattern revealed a collection of significantly enriched terms related to cardiovascular development. By our combined analysis of rCNVs in the ND-CTRD and DS-CTRD cohorts, a group of statistically significant shared pathways, biological functions, and gene expression patterns were identified that can be tested in future studies for their biological relevance.
journal_name
Birth Defects Resjournal_title
Birth defects researchauthors
Xie HM,Taylor DM,Zhang Z,McDonald-McGinn DM,Zackai EH,Stambolian D,Hakonarson H,Morrow BE,Emanuel BS,Goldmuntz Edoi
10.1002/bdr2.1534subject
Has Abstractpub_date
2019-08-01 00:00:00pages
888-905issue
13issn
2472-1727journal_volume
111pub_type
杂志文章abstract:BACKGROUND:Zika virus has recently emerged as a novel cause of microcephaly. CDC has asked states to rapidly ascertain and report cases of Zika-linked birth defects, including microcephaly. Massachusetts added head circumference to its birth certificate (BC) in 2011. The accuracy of head circumference measurements from...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1174
更新日期:2018-03-15 00:00:00
abstract::Neonatal cataracts remain the most common cause of visual loss in children worldwide and have diverse, often unknown, etiologies. This review summarizes current knowledge about the detection, treatment, genetics, risk factors, and molecular mechanisms of congenital cataracts. We emphasize significant progress and topi...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1050
更新日期:2017-06-01 00:00:00
abstract:BACKGROUND:Despite the numerous reports on the limb body wall complex (LBWC), this association has never been adequately defined. Amniotic bands (AB) are frequently present but their role remains unclear. Since most reports were based on clinical and often subjective diagnoses, the aim of this work was to define LBWC a...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1442
更新日期:2019-03-01 00:00:00
abstract:BACKGROUND:Few published studies are reported for the neurobehavioral toxicity of combined exposure to fungicides in mammals. This study was aimed to re-evaluate the reproductive and neurobehavioral effects of maternal exposure to combined imazalil (IMZ) and thiabendazole (TBZ) with fixed-dose of TBZ in mice. METHODS:...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1793
更新日期:2020-12-01 00:00:00
abstract:OBJECTIVE:Assess temporal trends in congenital microcephaly. METHODS:We used Texas inpatient discharge diagnoses between 2000 and 2015, restricting to newborns. Between 2000 and 2003, the maximum number of fields for recording diagnostic codes was eight, and between 2004 and 2015 it was 24. Microcephaly was classified...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1491
更新日期:2019-06-01 00:00:00
abstract::Cannabis use during adolescence has been linked to deleterious effects on brain integrity. This article summarizes findings from two prospective investigations (3 and 6 years, on average) on adolescent cannabis use from our laboratory that utilize structural neuroimaging and neurocognitive assessment approaches. Acros...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1572
更新日期:2019-10-15 00:00:00
abstract:BACKGROUND:The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R), and limb defects (L). Patients presentin...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1042
更新日期:2017-07-17 00:00:00
abstract::Electronic nicotine delivery systems (ENDS), which includes e-cigarettes (ECIGs), are a rapidly-expanding class of products that heat a liquid (which may or may not contain nicotine) to produce an aerosol. The variation of ECIG components is extensive as are their effects on users. Epidemiological data show that while...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1561
更新日期:2019-10-15 00:00:00
abstract:BACKGROUND:Congenital malformations are a leading cause of infant mortality in the United States, and risk for some congenital malformations varies by socioeconomic status (SES). Medicaid provides health insurance for people with low income, and covers approximately half of all live births in the United States. Income ...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1107
更新日期:2017-11-01 00:00:00
abstract:BACKGROUND:Most states have now passed legislation mandating pulse oximetry for all newborns, or have promulgated regulations or guidelines to encourage use of routine pulse oximetry. State-based birth defects registries may be well positioned to track and evaluate critical congenital heart disease (CCHD) screening cov...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1108
更新日期:2017-11-01 00:00:00
abstract:BACKGROUND:To objectively describe craniofacial, visual, and neurological features associated with amniotic band syndrome (ABS) and discuss likely associated multifactorial etiology. METHODS:A retrospective review of patients identified with ABS and concomitant limb involvement and craniofacial features was conducted....
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1576
更新日期:2019-11-15 00:00:00
abstract:BACKGROUND:Neural tube defects (NTDs) are severe congenital malformations. Folate supplementation can reduce the risk, but cannot prevent all NTDs, suggesting other reasons for folate-resistant NTDs. The present study assesses placental fatty acid composition, eicosanoids, and cytokines as risk factors for NTDs in a Ch...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1003
更新日期:2017-05-01 00:00:00
abstract:OBJECTIVES:Strategies for conducting juvenile dose ranging studies before definitive toxicity juvenile animal studies (JAS) have evolved, but the aim of demonstrating study design robustness and efficient animal use remains the same. The objective of dose selection is to identify a strategy to achieve consistent system...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1856
更新日期:2020-12-14 00:00:00
abstract:BACKGROUND:With the increasing birth prevalence of hypospadias, there is growing concern for pollutant exposure interfering with normal penile development. We assess the association between hypospadias and hormonally active hazardous air pollutants (HAHAPs) through a nationwide database of hazardous air pollutants and ...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1461
更新日期:2019-04-15 00:00:00
abstract:BACKGROUND:The aim of this study is to evaluate the association of TGFA TaqI polymorphism with nonsyndromic cleft lip and/or palate (NSCLP) in an Iranian population. METHODS:In this case-control study, 113 children with NSCLP and 209 controls were included. Genotyping of the TaqI polymorphism was performed by polymera...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1125
更新日期:2017-10-16 00:00:00
abstract:BACKGROUND:Cardiac fibrosis is a cardinal feature of multiple types of cardiovascular disease, which lead to heart failure. Multiple studies connect adverse maternal environment (AME) with cardiac fibrosis. AME does not always result in fibrosis, though. An additional "insult", such as an adult Western diet (WD), is fr...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1428
更新日期:2018-12-01 00:00:00
abstract:BACKGROUND:Developmental exposure to brominated flame retardants (BFRs), including polybrominated diphenyl ethers (PBDEs) and hexabromocyclododecane (HBCDD), has been associated with impaired neurodevelopment and some symptoms of metabolic syndrome. However, there are inconsistencies in studies reporting neurodevelopme...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1021
更新日期:2017-04-17 00:00:00
abstract:BACKGROUND:Obstetricians usually prescribe supplements during pregnancy without actual indication. The use of selenium during pregnancy has increased, due to its function in several antioxidant mechanisms. CASE:A pregnant woman received 200,000 micrograms (μg) per day of a selenium galenic formulation, since gestation...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1148
更新日期:2018-03-01 00:00:00
abstract:BACKGROUND:Breastfeeding women who are prescribed with psychotropic medications on a regular basis are often concerned, regarding the possible implications of such treatment on the breastfed infant. A mother's well-being has a direct influence on the well-being of the baby. However, the notorious reputation of psychotr...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1077
更新日期:2017-07-17 00:00:00
abstract:BACKGROUND:It is estimated that 20 to 30% of infants with birth defects have two or more birth defects. Among these infants with multiple congenital anomalies (MCA), co-occurring anomalies may represent either chance (i.e., unrelated etiologies) or pathogenically associated patterns of anomalies. While some MCA pattern...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1115
更新日期:2018-01-15 00:00:00
abstract::Small animal models, particularly mouse models, of human diseases are becoming an indispensable tool for biomedical research. Studies in animal models have provided important insights into the etiology of diseases and accelerated the development of therapeutic strategies. Detailed phenotypic characterization is essent...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1051
更新日期:2017-06-01 00:00:00
abstract:BACKGROUND:Infants of diabetic mothers have been shown in several studies to have an increased frequency of malformations. In previous studies, an increased frequency of several specific malformations has been noted, including anencephaly, bilateral renal agenesis, and double outlet right ventricle. Surveillance, used ...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1155
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:As a result of human socioeconomic activity, industrial wastes have increased distressingly. Plastic pollution is globally distributed across the world due to its properties of buoyancy and durability. A big health hazard is the sorption of toxicants to plastic while traveling through the environment. Two br...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1779
更新日期:2020-10-01 00:00:00
abstract:BACKGROUND:Quaternary ammonium compounds are a large class of chemicals used for their antimicrobial and antistatic properties. Two common quaternary ammonium compounds, alkyldimethylbenzyl ammonium chloride (ADBAC) and didecyldimethyl ammonium chloride (DDAC), are combined in common cleaners and disinfectants. Introdu...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1064
更新日期:2017-08-15 00:00:00
abstract::The AV7909 vaccine, consists of the Anthrax Vaccine Adsorbed (AVA) bulk drug substance and the immunostimulatory Toll-like receptor 9 agonist oligodeoxynucleotide adjuvant CPG 7909. The purpose of this research was to evaluate the potential maternal, reproductive, and developmental toxicity of AV7909 in rats to suppor...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1815
更新日期:2021-01-01 00:00:00
abstract:BACKGROUND:The different mechanisms leading to a solitary kidney should be differentiated because the long-term outcome might be different. The fetal period is the best moment to make a true diagnosis of congenital unilateral renal agenesis (URA). The objective was to determine the prevalence of URA at birth. The secon...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1065
更新日期:2017-09-01 00:00:00
abstract:BACKGROUND:This is the first study to utilize the index of concentration at the extremes (ICE) to examine risk factors for spina bifida in Texas. The ICE is a useful measure for providing the degree to which residents in a certain area are concentrated into groups at the extremes of disadvantage and privilege. We intro...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1374
更新日期:2019-08-15 00:00:00
abstract::Maternal-neonate separation for human newborns has been the standard of care since the last century; low birth weight and preterm infants are still routinely separated from their mothers. With advanced technology, survival is good, but long-term developmental outcomes are very poor for these especially vulnerable newb...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1530
更新日期:2019-09-01 00:00:00
abstract:BACKGROUND:The diagnosis of fetal alcohol syndrome (FAS) rests on identification of characteristic facial, growth, and central nervous system (CNS) features. Public health surveillance of FAS depends on documentation of these characteristics. We evaluated if reporting of FAS characteristics is associated with the type ...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1203
更新日期:2018-06-01 00:00:00
abstract:BACKGROUND:The teratogenic effects of prenatal alcohol exposure (PAE) have been extensively documented over the course of 45 years of research and psychiatric problems are pervasive in this population. In adults with PAE, suicidal risk is high but less is known about the suicidal risk in adolescents with fetal alcohol ...
journal_title:Birth defects research
pub_type: 临床试验,杂志文章
doi:10.1002/bdr2.1465
更新日期:2019-07-15 00:00:00