Abstract:
BACKGROUND:Recent advances in genomics methodologies, in particular the availability of next-generation sequencing approaches have made it possible to identify risk loci throughout the genome, in particular the exome. In the current study, we present findings from an exome study conducted in five affected individuals of a multiplex family with cleft palate only. METHODS:The GEnome MINIng (GEMINI) pipeline was used to functionally annotate the single nucleotide polymorphisms, insertions and deletions. Filtering methods were applied to identify variants that are clinically relevant and present in affected individuals at minor allele frequencies (≤1%) in the 1000 Genomes Project single nucleotide polymorphism database, Exome Aggregation Consortium, and Exome Variant Server databases. The bioinformatics tool Systems Tool for Craniofacial Expression-Based Gene Discovery was used to prioritize cleft candidates in our list of variants, and Sanger sequencing was used to validate the presence of identified variants in affected and unaffected relatives. RESULTS:Our analyses approach narrowed the candidates down to the novel missense variant in ARHGAP29 (GenBank: NM_004815.3, NP_004806.3;c.1654T>C [p.Ser552Pro]. A functional assay in zebrafish embryos showed that the encoded protein lacks the activity possessed by its wild-type counterpart, and migration assays revealed that keratinocytes transfected with wild-type ARHGAP29 migrated faster than counterparts transfected with the p.Ser552Pro ARHGAP29 variant or empty vector (control). CONCLUSION:These findings reveal ARHGAP29 to be a regulatory protein essential for proper development of the face, identifies an amino acid that is key for this, and provides a potential new diagnostic tool.Birth Defects Research 109:27-37, 2017. © 2016 Wiley Periodicals, Inc.
journal_name
Birth Defects Resjournal_title
Birth defects researchauthors
Liu H,Busch T,Eliason S,Anand D,Bullard S,Gowans LJJ,Nidey N,Petrin A,Augustine-Akpan EA,Saadi I,Dunnwald M,Lachke SA,Zhu Y,Adeyemo A,Amendt B,Roscioli T,Cornell R,Murray J,Butali Adoi
10.1002/bdra.23596subject
Has Abstractpub_date
2017-01-20 00:00:00pages
27-37issue
1issn
2472-1727journal_volume
109pub_type
杂志文章abstract::The aerodigestive and communicative behaviors of anencephalic and hydranencephalic patients are assessed from literature sources and are compared with documented neural structures present in the brainstem, subcortical, and cortical regions of the brain. Much of the data analyzed corroborate previous neurological studi...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1424
更新日期:2019-01-15 00:00:00
abstract::OEIS is the acronym of a malformations complex association including omphalocele, exstrophy of bladder or cloaca, imperforate anus, and spinal defects. It has a very low prevalence, ranging from 1/82,000 to 1/200,000 live births (LB). The etiology of OEIS is unknown. Virtually all cases are sporadic, and specific asso...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1512
更新日期:2019-07-01 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::Zika virus was first identified in Uganda in 1947 but received little attention until 2015 when a large outbreak of Zika virus illness followed by an increased number of babies born with microcephaly occurred in Brazil. Zika virus spread rapidly throughout the Americas, and in 2016 was identified as a cause of microce...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1781
更新日期:2020-09-01 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: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: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::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: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: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::As a result of human socio-economic activity, industrial wastes have increased alarmingly. Plastic pollution is globally distributed across the world due to its properties of buoyancy and durability. Two broad classes of plastic-related chemicals are of critical concern for human health-bisphenol-A or BPA, and additiv...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1776
更新日期:2020-10-01 00:00:00
abstract:BACKGROUND:My career goal in 1971 was to learn about the causes of malformations. Attending the annual meetings of the Teratology Society and reading the articles in Teratology exposed me to the scientists and clinicians involved in this research and the methods being used. METHODS:Over a period of 49 years (1972-2020...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1667
更新日期:2020-07-15 00:00:00
abstract:BACKGROUND:Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS. METHODS:...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdra.23586
更新日期:2017-01-20 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:Maternal smoking or passive smoking during gestation increases the risk of congenital birth defects, including neural tube defects (NTDs). Cigarette smoke is a recognized teratogen that causes NTDs, although the mechanisms are not well understood. METHODS:An established model of passive smoking in pregnant ...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1804
更新日期:2021-01-01 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:BACKGROUND:Many therapies to treat cancer are gonadotoxic and can lead to infertility. New strategies to diminish the side effects and protective plans during and after chemotherapy are needed. Therefore, bone marrow mesenchymal stem cells (BM-MSCs) as a novel solution were investigated against doxorubicin (Dox)-induce...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1535
更新日期:2019-08-01 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:BACKGROUND:The tetanus toxoid, reduced diphtheria toxoid, and acellular pertussis (Tdap) vaccine is recommended during pregnancy to protect newborns against pertussis infection in the months prior to their primary pertussis vaccination. Although research on the safety of the vaccine has been reassuring, most previous s...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1642
更新日期:2020-03-01 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: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: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: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::The blood-brain barrier (BBB) serves as a gateway for passage of drugs, chemicals, nutrients, metabolites, and hormones between vascular and neural compartments in the brain. Here, we review BBB development with regard to the microphysiology of the neurovascular unit (NVU) and the impact of BBB disruption on brain dev...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1180
更新日期:2017-12-01 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::Mouse models are invaluable for investigating the developmental etiology and molecular pathogenesis of structural birth defects. While this has been deployed for studying a wide spectrum of birth defects, mice are particularly valuable for modeling congenital heart disease, given they have the same four-chamber cardia...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1048
更新日期:2017-06-01 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::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::In human studies, it is well established that exposures during embryonic and fetal development periods can influence immune health. Coupled with genetic predisposition, these exposures can alter lifetime chronic and infectious disease trajectory, and, ultimately, life expectancy. Fortunately, as research advances, mec...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1469
更新日期:2019-03-01 00:00:00
abstract:BACKGROUND:A cardinal feature of prenatal ethanol exposure is CNS damage, resulting in a continuum of neurological and behavioral impairments that are described by the term fetal alcohol spectrum disorders (FASD). FASDs are variable and depend on several factors, including the amount, timing, and duration of prenatal e...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1477
更新日期:2019-07-15 00:00:00