Abstract:
:The most common form of male infertility is a low sperm count, known as oligozoospermia. Studies suggest that oligozoospermia is associated with epigenetic alterations. Epigenetic alterations in sperm, which may arise due to the exposure of gametes to environmental factors or those that pre-exist in the sperm of infertile individuals, may contribute to the increased incidence of normally rare imprinting disorders in babies conceived after assisted reproductive technology using the sperm of infertile men. Genomic imprinting is an important developmental process whereby the allelic activity of certain genes is regulated by DNA methylation established during gametogenesis. The aberrant expression of several imprinted genes has been linked to various diseases, malignant tumors, lifestyle and mental disorders in humans. Understanding how infertility and environmental factors such as reproductive toxicants, certain foods, and drug exposures during gametogenesis contribute to the origins of these disorders via defects in sperm is of paramount importance. In this review, we discuss the association of epigenetic alterations with abnormal spermatogenesis and the evidence that epigenetic processes, including those required for genomic imprinting, may be sensitive to environmental exposures during gametogenesis, fertilization and early embryonic development. In addition, we review imprinting diseases and their relationships with environmental factors. While the plasticity of epigenetic marks may make these more susceptible to modification by the environment, this also suggests that aberrant epigenetic marks may be reversible. A greater understanding of this process and the function of epidrugs may lead to the development of new treatment methods for many adult diseases in the future.
journal_name
Congenit Anom (Kyoto)journal_title
Congenital anomaliesauthors
Kitamura A,Miyauchi N,Hamada H,Hiura H,Chiba H,Okae H,Sato A,John RM,Arima Tdoi
10.1111/cga.12113subject
Has Abstractpub_date
2015-08-01 00:00:00pages
133-44issue
3eissn
0914-3505issn
1741-4520journal_volume
55pub_type
杂志文章,评审abstract::The eye is a sensory organ that primarily captures light and provides the sense of sight, as well as delivering non-visual light information involving biological rhythms and neurophysiological activities to the brain. Since the early 1990s, rapid advances in molecular biology have enabled the identification of develop...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/cga.12304
更新日期:2019-05-01 00:00:00
abstract::The rapid rise in the prevalence of autism spectrum disorders (ASD) and other psychiatric disorders displaying similar traits has increased the need to elucidate their molecular mechanisms. Epidemiological studies have shown that maternal infection during mid-pregnancy is associated with increased risk of neurodevelop...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/cga.12323
更新日期:2019-05-01 00:00:00
abstract::Omphalocele-exstrophy of the bladder (cloaca)-imperforate anus-spinal defects (OEIS) complex describes a rare grouping of more commonly occurring component malformations. We report two cases of OEIS complex diagnosed prenatally by ultrasound and magnetic resonance imaging (MRI). In both cases, OEIS complex was suspect...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2011.00342.x
更新日期:2012-09-01 00:00:00
abstract::It is known that neural tube defects are folic acid preventable congenital anomalies. We investigated to what extent this information was disseminated among laywomen and healthcare providers. Questionnaire studies were conducted twice, in 2002 and 2007, for four groups of laywomen and seven groups of healthcare provid...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2009.00232.x
更新日期:2009-09-01 00:00:00
abstract::It is known that the developing serotonergic system is one of the targets of ethanol teratogenicity. Because serotonin has multiple functions in both mature and immature brains, disturbance of the serotonergic system by ethanol exposure in utero can be cause of a wide range of psychiatric problems in adulthood. In the...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2010.00269.x
更新日期:2010-06-01 00:00:00
abstract::When amniocentesis reveals a mosaic karyotype and the baby presents with multiple malformations, an analysis of the baby's peripheral blood typically reveals a mosaic karyotype. We present a boy who was prenatally diagnosed by amniocentesis as having trisomy 9 mosaicisim but who had normal G-banding results on postnat...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2006.00111.x
更新日期:2006-06-01 00:00:00
abstract::The WDR62 gene encodes a scaffold protein of the c-Jun N-terminal kinase (JNK) pathway. It plays a critical role in laying out various cellular layers in the cerebral cortex during embryogenesis, and hence the dramatic clinical features resulting from WDR62 mutations. These mutations are associated with autosomal rece...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/cga.12144
更新日期:2016-05-01 00:00:00
abstract::Fetal ventriculomegaly development leads to neurological, motor, and/or cognitive impairment, and is presently diagnosed based on the width of the atrium in the lateral ventricle. But in this study, we have tried to assess the relationship between the development of calcarine sulcus and width of fetal lateral ventricl...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/cga.12197
更新日期:2017-03-01 00:00:00
abstract::Hydroxyprogesterone, a synthetic progestin, was used for the treatment of pregnant women with threatened abortion and preterm delivery. Previous studies showed some association between hydroxyprogesterone use during early pregnancy and some specific congenital abnormalities. The population-based large Hungarian data s...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2006.00128.x
更新日期:2006-12-01 00:00:00
abstract::Craniofrontonasal syndrome (CFNS) is characterized by craniosynostosis, hypertelorism, a broad nasal tip and occasionally cleft lip and palate, and is caused by a mutation in the ephrin-B1 gene (EFNB1). The study of naturally occurring human EFNB1 mutations offers a unique opportunity to better define the critical por...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2006.00140.x
更新日期:2007-03-01 00:00:00
abstract::The objective of the study presented here was to check the debated human teratogenic potential of sulfonamide drugs. Five different sulfonamides such as sulfamethazine, sulfathiourea, sulfamethoxypyridazine, sulfamethoxydiazine and the combination of sulfamethazine-sulfathiourea-sulfamethoxypyridazine were differentia...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2004.00012.x
更新日期:2004-06-01 00:00:00
abstract::Thoracolumbar supernumerary ribs (TSRs) are classified as less severe skeletal anomalies in rat developmental toxicity studies, although their incidence is relatively high in rodent studies. To investigate the characteristics of the critical window for chemically-induced TSR, in this study, rats were administered 5-fl...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/cga.12320
更新日期:2019-11-01 00:00:00
abstract::Choroid plexus, a fetal organ developing approximately from the sixth week of gestation, plays a fundamental role in developing fetal brain organization. As relatively little is known about the relationship between anomalies of choroid plexuses structure and their role in brain function, we examined cases of bifid cho...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/cga.12006
更新日期:2013-06-01 00:00:00
abstract::The human genome harbors approximately 2000 genes that encode microRNAs (miRNAs), small non-coding RNAs of approximately 20-22 nt that mediate post-transcriptional gene silencing. MiRNAs are generated from long transcripts through stepwise processing by the Drosha/DGCR8, Exportin-5/RanGTP and Dicer/TRBP complexes. Giv...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/cga.12043
更新日期:2014-02-01 00:00:00
abstract::Six pediatric cases including four infants with congenital polymicrogyria including the perisylvian region are presented herein. Their clinical features were analyzed and compared with patients suffering from congenital bilateral perisylvian syndrome (CBPS). Two specific abnormalities were diagnosed as accompanying di...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2009.00253.x
更新日期:2010-03-01 00:00:00
abstract::An early second-trimester prenatal ultrasound diagnosis of an arthrogryposis multiplex congenita-like syndrome associated with median clefts is reported. A molecular biological work-up was performed to search for a potentially overlapping syndrome and dysostosis. Autopsy and postmortem radiogram were performed to conf...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2012.00388.x
更新日期:2013-09-01 00:00:00
abstract::There is limited information on the specific structural birth defects associated with the abdominal wall defects (AWD) omphalocele and gastroschisis, particularly which defects occur with the AWD at greater than expected rates (rates among all infants and fetuses with birth defects other than the AWD). Using data from...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2008.00184.x
更新日期:2008-06-01 00:00:00
abstract::Maternal diabetes mellitus is associated with increased fetal teratogenesis, including cardiovascular defects. Non-specific maternal immune stimulation with Freund's complete adjuvant (FCA) or interferon gamma (IFNgamma) has been associated with protection against birth malformations. Using a diabetic mouse model, lat...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2008.00213.x
更新日期:2009-03-01 00:00:00
abstract::This study examined immunohistochemically the expression of an enzymatically active form of tyrosine hydroxylase (TH), phosphorylated TH at Ser40 (phospho-TH), in the cerebellum of ataxic mutant mice, rolling mouse Nagoya (RMN) and dilute-lethal (DL). TH immunostaining appeared in some Purkinje cells in RMN and DL, bu...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2003.00008.x
更新日期:2004-03-01 00:00:00
abstract::Report of a female fetus aborted at the 25th week of gestation, with severe microcephalus, trigonocephaly, median cleft lip and palate, arhinia, and anophthalmia. On opening of the skull the cranial cavity seemed to be occupied only by hindbrain structures. The forebrain, including the tentorium cerebelli and the falx...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/cga.1988.28.3.169
更新日期:1988-09-01 00:00:00
abstract::A 32-year-old gravida 2, para 1 woman, with a previous uneventful pregnancy, underwent first trimester ultrasound screening for Down syndrome at 13 weeks according to the Fetal Medicine Foundation guidelines (http://www.fetalmedicine.com/pdf/11-14/english/FMF-English.pdf). The ultrasound showed increased nuchal transl...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2007.00146.x
更新日期:2007-06-01 00:00:00
abstract::Numerous studies have shown the importance of the mesocorticolimbic dopamine system in the pathophysiology of attention deficit/hyperactivity disorder. However, there has been inconsistency in the findings of those studies. Varied and sometimes contradictory interpretation has been made on the basis of similar results...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/j.1741-4520.2003.tb01035.x
更新日期:2003-06-01 00:00:00
abstract::We describe a 5-year-old girl with features resembling Trichorhinophalangeal syndrome, type I (sparse scalp hair, bushy eyebrows, bulbous nose, long philtrum, cone-shaped epiphyses, clinobrachydactyly, epiphyseal changes in the femoral head and short stature), and appendicular exostoses similar to trichorhinophalangea...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2007.00155.x
更新日期:2007-09-01 00:00:00
abstract::Lissencephaly is one of the central nervous system anomalies of Miller-Dieker Syndrome (MDS). Fetuses with lissencephaly have an abnormal smooth brain with fewer folds and grooves that will be detected by ultrasounds or fetal magnetic resonance imaging (MRI) after 30 weeks of gestation. We report a fetus with lissence...
journal_title:Congenital anomalies
pub_type:
doi:10.1111/cga.12193
更新日期:2017-03-01 00:00:00
abstract::Monitoring in Ishikawa Prefecture (mean population; 1,150,000), during the 20-year period from 1981 to 2000, involved monitoring the prevalence of congenital anomalies starting at gestational week 22. The main objectives of the present study were (1) to investigate the trend over the past 20 years in the prevalence of...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2003.tb01015.x
更新日期:2003-12-01 00:00:00
abstract::Galectins are β-galactoside-binding lectins that participate in a wide range of biological processes. Galectins are distributed both inside and outside cells and are believed to have roles in both intra- and extracellular milieus. One of the well-recognized functions of galectins is stabilization of glycoproteins on t...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/cga.12055
更新日期:2014-05-01 00:00:00
abstract::In vitro fertilization (IVF) and other assisted reproductive technologies (ART) are effective treatments for infertility and are widely provided at infertility clinics. Although IVF and related ART procedures are generally considered safe, some studies have suggested an excess occurrence of major malformations, low bi...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/j.1741-4520.2005.00061.x
更新日期:2005-06-01 00:00:00
abstract::Deletion of TWIST on 7p21 leads to Saethre-Chotzen syndrome, whereas deletion of the HOXA cluster on 7p15.2 leads to hand-foot-genital syndrome. We report here a patient with 46,XY,del(7)(p15.2p21) who had craniosynostosis, maxillary hypoplasia, prominent ear crus, rectoperineal fistula, and hypoplastic fifth fingers....
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2005.00059.x
更新日期:2005-03-01 00:00:00
abstract::Historical control data on rodent developmental toxicity studies, performed between 1994 and 2010, were obtained from 19 laboratories in Japan, including 10 pharmaceutical and chemical companies and nine contract research organizations. Rats, mice, and hamsters were used for developmental toxicity studies. Data includ...
journal_title:Congenital anomalies
pub_type: 历史文章,杂志文章
doi:10.1111/cga.12050
更新日期:2014-08-01 00:00:00
abstract::Indium, a precious metal classified in group 13 (IIIB) in the periodic table, has been used increasingly in the semiconductor industry. Because indium is a rare metal, technology for indium recycling from transparent conducting films for liquid crystal displays is desired, and its safety evaluation is becoming increas...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/j.1741-4520.2008.00197.x
更新日期:2008-12-01 00:00:00