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 the cell surface, thereby promoting stable signal transduction and transport of substances such as glucose. Glycoprotein-associated diseases, including congenital disorder of glycosylation (CDG, previously called carbohydrate-deficient glycoprotein syndrome), comprise a disease family established only in the last decade. Although numerous in vitro glycobiology studies have been performed, including investigation of glycan-galectin interactions and of galectin action in cultured cells, a few in vivo studies have investigated molecular mechanisms of galectin actions in animal models. Both in vitro and in vivo studies are needed in order to better determine the biological significance of sugar chain recognition. Hitherto, some reports have focused on the role of impaired sugar chain recognition and galectin function in the development of diverse diseases, including rheumatoid arthritis, diabetes mellitus, colitis, and cancer. We recently focused on the function of galectins in immunity and embryogenesis, and in this review we summarize the diseases related to disorders of sugar chain-galectin interaction and discuss the role of galectins as potential risk factors for some congenital and acquired diseases. These diseases are disorders of immunity, metabolism, and cell differentiation. This approach to understanding the significance of sugar chain recognition by galectins may open up a new field into the nature of glycoprotein-related diseases, including CDG.
journal_name
Congenit Anom (Kyoto)journal_title
Congenital anomaliesauthors
Arikawa T,Simamura E,Shimada H,Nakamura T,Hatta T,Shoji Hdoi
10.1111/cga.12055subject
Has Abstractpub_date
2014-05-01 00:00:00pages
77-81issue
2eissn
0914-3505issn
1741-4520journal_volume
54pub_type
杂志文章,评审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::Many of the effects of dioxins, which are potent environmental pollutants and teratogens, are mediated through the aryl hydrocarbon receptor, also known as the dioxin receptor. The purpose of the present study was to characterize dioxin-responsive genes in a comprehensive manner using two complementary approaches: bio...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2006.00116.x
更新日期:2006-09-01 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::Embryonic stem (ES) cells or induced pluripotent stem (iPS) cells are expected as a surrogate cell source for regenerative medicine. Many researchers have reported the differentiation method of insulin-expressing pancreatic β cells from ES or iPS cells. However, the detailed molecular mechanisms underlying the differe...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/j.1741-4520.2010.00307.x
更新日期:2011-03-01 00:00:00
abstract::The time of origin of motor neurons and their distribution in the spinal cord was studied in rat embryos by combining whole-embryo culture and the Islet-1 immunostaining technique. Cells immunostained for Islet-1 appeared in the trunk neural tube by 27 hours (corresponding to E10.625) in culture of E9.5 embryos, at wh...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2002.tb00862.x
更新日期:2002-06-01 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::Semaphorins and their receptors, neuropilins and plexins, were initially characterized as a modulator of axonal guidance during development, but are now recognized as a regulator of a wide range of developmental events including morphogenesis and angiogenesis, and activities of the immune system. Owing to the developm...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/cga.12095
更新日期:2015-02-01 00:00:00
abstract::Certain studies previously pointed out that treating pregnant women with antidepressants may increase risks of congenital anomalies in their children. However, to date, the study results are not conclusive. Furthermore, most studies have been performed using data from Western countries; therefore, we examined this ass...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/cga.12386
更新日期:2020-11-01 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::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::Wolf-Hirschhorn syndrome (WHS) is a subtelomeric deletion syndrome affecting the short arm of chromosome 4. The main clinical features are a typical craniofacial appearance, growth deficiency, developmental delays, and seizures. Previous genotype-phenotype correlation analyses showed some candidate regions for each cl...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/cga.12318
更新日期:2019-09-01 00:00:00
abstract::We describe a novel de novo heterozygous variant in SYNGAP1 (c.1741C>T, p.R581W), identified through targeted resequencing in an 8-year-old boy with intellectual disability, autism spectrum disorder, distinctive dysmorphic features, and no seizures. Our data strongly suggest that the SYNGAP1 variant is causative of in...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/cga.12273
更新日期:2018-11-01 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::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::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::Müllerian duct anomalies are infrequently encountered clinical problems and often present with difficulty in diagnosis. A high level of suspicion is the key to diagnosis, which is usually made soon after menarche. However, this is the first reported case of uterus didelphys with obstructed hemivagina and pyocolpos wit...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2008.00195.x
更新日期:2008-09-01 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::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::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::To investigate the abnormalities that are specific to administration of flucytosine at one time point during embryonic organogenesis, flucytosine was administered orally to pregnant Sprague Dawley (SD) rats in a single dose on day 11 of pregnancy at 25 or 35 mg/kg. Fetuses on day 20 of pregnancy were externally, visce...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/cga.12282
更新日期:2019-03-01 00:00:00
abstract::Molecular pathogenesis of human cerebral malformations is briefly reviewed from a neuropathologic viewpoint, with emphasis on holoprosencephaly and neuronal migration disorders. Immunopathologic approaches are useful in elucidating the essential pathomechanism of these anomalies. In alobar holoprosencephaly, for insta...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/j.1741-4520.2003.tb01023.x
更新日期:2003-03-01 00:00:00
abstract::So far, 46 cases of placental mesenchymal dysplasia have been reported worldwide. We encountered 15 cases of placental mesenchymal dysplasia (PMD) including 7 cases delivered in our hospital. The incidence of PMD in our hospital was therefore, 7/30,758 (0.02%). The PMD had a peculiar appearance. In the gross findings,...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2002.tb00897.x
更新日期:2002-12-01 00:00:00
abstract::We determined the overall prevalence of typical orofacial clefts and the potential risks for nonsyndromic cleft lip with or without cleft palate in a university hospital from West México. For the prevalence, 227 liveborn infants with typical orofacial clefts were included from a total of 81,193 births occurred during ...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/cga.12276
更新日期:2018-07-01 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::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::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
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::We report the case of a boy with a de novo partial monosomy 16p13-pter and partial trisomy 16q22-qter detected by fluorescence in situ hybridization using subtelomeric probes for 16p and 16q. The boy had facial characteristics, skeletal features, congenital heart defects, an imperforate anus, urogenital malformations,...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2009.00228.x
更新日期:2009-06-01 00:00:00
abstract::Familial cases of isolated abdominal wall defects with variable expressivity in more than one generation have rarely been observed. We report four affected individuals within a small three-generation family with either variable non-syndromic abdominal wall defects or external genital anomalies. We discuss the possible...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2010.00291.x
更新日期:2011-06-01 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