Abstract:
:Although many candidate genes have been studied in pre-eclampsia (PE), the important class of catecholamine receptors that contribute to sympathetic tone and blood pressure regulation has yet to be investigated. We therefore examined the dopamine D4 receptor (DRD4) gene. We performed a prospective family-based study in 50 families (patient and both her parents) who were genotyped for three DRD4 promoter regions. These single-nucleotide polymorphisms (SNPs) were tested for association using family-based association test (FBAT) that also included two quantitative measures, aspartate aminotransferase [serum glutamic oxalacetic transaminase (SGOT)] and systolic blood pressure. SNPs were assayed using a commercially available SNAPSHOT kit and PCR products were analysed in an ABI 310 DNA analyser. A significant association (preferential transmission of the T allele from a heterozygous parent to affected mother) was observed between the -C521T SNP and PE (P = 0.019). Significant association was also observed between the -521T allele and two-dimensional measures of PE : GOT (P = 0.039) and systolic blood pressure (P = 0.036). The DRD4 promoter region -C521T SNP that reduces transcriptional efficiency of this gene is suggested to contribute to developing PE. Additionally, DRD4 -521 TT homozygosity may be a marker for severe PE.
journal_name
Mol Hum Reprodjournal_title
Molecular human reproductionauthors
Korobochka R,Gritsenko I,Gonen R,Ebstein RP,Ohel Gdoi
10.1093/molehr/gal004subject
Has Abstractpub_date
2006-02-01 00:00:00pages
85-8issue
2eissn
1360-9947issn
1460-2407pii
gal004journal_volume
12pub_type
杂志文章abstract::The clinical application of quantitative fluorescent polymerase chain reaction (QF-PCR) for rapid prenatal detection of chromosome aneuploidies has been limited in most studies to the detection of autosomal trisomies. Recently it has been shown that a newly identified highly polymorphic marker, termed X22, which maps ...
journal_title:Molecular human reproduction
pub_type: 临床试验,杂志文章
doi:10.1093/molehr/7.10.1001
更新日期:2001-10-01 00:00:00
abstract::Human endometrium is the major organ that produces glycodelin A (GdA). The production of endometrial GdA causes a fluctuation of the peripheral glycodelin concentrations in women during the menstrual cycle and pregnancy. It has recently been reported that the rise of plasma concentrations of glycodelin is correlated w...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/5.4.372
更新日期:1999-04-01 00:00:00
abstract::Successful embryo implantation depends on the quality of the embryo, as well as on the receptivity of the endometrium. The aim of this study was to investigate the endometrial gene expression profile in women with unexplained infertility in comparison with fertile controls at the time of embryo implantation in order t...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gap102
更新日期:2010-03-01 00:00:00
abstract::Several studies have demonstrated an association between polycystic ovary syndrome (PCOS) and the dinucleotide repeat microsatellite marker D19S884, which is located in intron 55 of the fibrillin-3 (FBN3) gene. Fibrillins, including FBN1 and 2, interact with latent transforming growth factor (TGF)-beta-binding protein...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gap072
更新日期:2009-12-01 00:00:00
abstract::Deletions of the AZFc interval of the human Y chromosome are found in >5% of male patients with idiopathic infertility and are associated with a severely reduced sperm count. The most common deletion type is large (>1 Mb) and removes members of the Y-borne testis-specific gene families of BPY2, CDY1, DAZ, PRY, RBMY2 a...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/6.9.789
更新日期:2000-09-01 00:00:00
abstract::After meiosis, during the final stages of spermatogenesis, the haploid male genome undergoes major structural changes, resulting in a shift from a nucleosome-based genome organization to the sperm-specific, highly compacted nucleoprotamine structure. Recent data support the idea that region-specific programming of the...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar063
更新日期:2012-01-01 00:00:00
abstract::In the uterus, epithelial cell proliferation changes during the estrous cycle and pregnancy. Uncontrolled epithelial cell proliferation results in implantation failure and/or cancer development. Transforming growth factor-β (TGF-β) signaling is a fundamental regulator of diverse biological processes and is indispensab...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gau033
更新日期:2014-08-01 00:00:00
abstract::The pool of primordial follicles in humans is laid down during embryonic development and follicles can remain dormant for prolonged intervals, often decades, until individual follicles resume growth. The mechanisms that induce growth and maturation of primordial follicles are poorly understood but follicles once activ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar083
更新日期:2012-02-01 00:00:00
abstract::Endometriosis, the presence of ectopic endometrial tissue outside the uterine cavity, is a common disease affecting women during their reproductive years. The aim of this study was to identify the molecular mechanism of transcriptional regulation of inflammatory cyclooxygenase-2 (COX-2) gene during endometriosis by hy...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar036
更新日期:2011-11-01 00:00:00
abstract::Pregnancy-associated plasma protein-A and -A2 (PAPP-A and -A2) are proteases that cleave insulin-like growth factor-binding proteins (IGFBPs), resulting in local activation of IGF signaling pathways. Here, we examined PAPP-A and -A2 mRNA and protein levels in placenta and maternal sera from women with pre-eclampsia an...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gan054
更新日期:2008-10-01 00:00:00
abstract::Sperm capacitation is a maturation event that takes place in the female reproductive tract and is essential for fertilization. A family of phospholipid-binding proteins present in bovine seminal plasma (BSP proteins) binds the sperm membrane at ejaculation and promotes bovine sperm capacitation. Homologues of these pr...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal098
更新日期:2007-01-01 00:00:00
abstract:STUDY QUESTION:What is the prevalence, reproducibility and biological significance of transcriptomic differences between sister blastomeres of the mouse 2-cell embryo? SUMMARY ANSWER:Sister 2-cell stage blastomeres are distinguishable from each other by mRNA analysis, attesting to the fact that differentiation starts ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gay021
更新日期:2018-07-01 00:00:00
abstract::Charcot-Marie-Tooth (CMT) disease type 1A is an autosomal dominant peripheral neuropathy characterized by slow progressive distal muscle wasting and weakness, and decreased nerve conduction velocities. Most CMT1A cases (>98%) are caused by a duplication of a 1.5 Mb region on the short arm of chromosome 17 containing t...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/4.10.978
更新日期:1998-10-01 00:00:00
abstract::This study was undertaken to localize ryanodine-sensitive Ca2+ stores in human oocytes and to evaluate their role in the Ca2+ oscillations responsible for oocyte activation at fertilization. The addition of ryanodine provoked a Ca2+ discharge from stores localized throughout the ooplasm with the exception of the corti...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.4.265
更新日期:1996-04-01 00:00:00
abstract::Zinc dynamics are essential for oocyte meiotic maturation, egg activation, and preimplantation embryo development. During fertilisation and egg activation, the egg releases billions of zinc atoms (Zn2+) in an exocytotic event termed the 'zinc spark'. We hypothesised that this zinc transport and exocytosis is dependent...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaaa017
更新日期:2020-04-24 00:00:00
abstract::The epithelium lining the epididymis in the male reproductive tract maintains a luminal environment that promotes sperm cell maturation. This process is dependent on the coordinated expression of many genes that encode proteins with a role in epithelial transport. We previously generated genome-wide maps of open chrom...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gau075
更新日期:2014-12-01 00:00:00
abstract::Individual spermatozoa from the father of two affected infants with osteogenesis imperfecta were separated by dilution and micromanipulation. A segment of the type I collagen gene containing the mutant region was amplified by nested polymerase chain reaction and sequenced. Among 40 individual spermatozoa, 15 specimens...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.2.131
更新日期:1996-02-01 00:00:00
abstract::Persistent organohalogen pollutants (POPs) have been suggested to be involved in changing the proportion of ejaculated Y-bearing sperm. The androgen receptor (AR), aryl hydrocarbon receptor (AHR) and aryl hydrocarbon receptor repressor (AHRR) may modulate the effect of POPs with regard to previously observed sperm Y:X...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal114
更新日期:2007-04-01 00:00:00
abstract::Antibodies to alpha and beta subunits of guanine nucleotide regulatory proteins (G proteins) were used to identify which G proteins are present in mature human spermatozoa and to determine their subcellular localization. Immunoblots of membranes from spermatozoa demonstrate the presence of Galphai2, Galphai3, Galphaq/...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/5.1.38
更新日期:1999-01-01 00:00:00
abstract::The endocrine disrupting chemical o, p'-dichlorodiphenyltrichloroethane (DDT) can affect reproductive organs, tissues and cells in several species. Treatment of human endometrial endothelial cells (HEECs) with 50 microM o,p'-DDT decreased their proliferation compared with the control. Microarray analyses revealed that...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gam091
更新日期:2008-02-01 00:00:00
abstract::Although available data from the mouse model suggest that morphogenesis during preimplantation development is dependent on the expression of embryonic genes, convincing data for human preimplantation embryos are missing. To investigate the expression of genes involved in human preimplantation development we constructe...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/4.6.571
更新日期:1998-06-01 00:00:00
abstract::Indoleamine 2,3-dioxygenase-1 (IDO1) is an intracellular enzyme that catalyses essential amino acid tryptophan along the kynurenine pathway. The aim of this study was to determine the impact of IDO1 expression on the biological characteristic of the endometrial stromal cells (ESCs). IDO1, cyclooxygenase-2 (COX-2) and ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gas021
更新日期:2012-10-01 00:00:00
abstract::Observational human data and several lines of animal experimental data indicate that maternal obesity impairs offspring health. Here, we comprehensively tested the model that maternal obesity causes defects in the next three generations of oocytes and embryos. We exposed female F0 mice to a high-fat/high-sugar (HF/HS)...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaz049
更新日期:2019-11-30 00:00:00
abstract:STUDY QUESTION:Does a heterozygous mutation in AMHR2, identified in whole-exome sequencings (WES) of patients with primary ovarian insufficiency (POI), cause a defect in anti-Müllerian hormone (AMH) signaling? SUMMARY ANSWER:The I209N mutation at the adenosine triphosphate binding domain of AMHR2 exerts dominant negat...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaw040
更新日期:2016-09-01 00:00:00
abstract::A rapid fluorescence in-situ hybridization (FISH) technique was used for direct chromosomal analysis on germ cells from an infertile male with large-headed spermatozoa. The interphase chromosomes were fluorescently-labelled using an extremely bright cyanine dye during a 5-15 min FISH procedure. Germ cells were analyse...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.9.665
更新日期:1996-09-01 00:00:00
abstract::The influence of seminal plasma on the mRNA expression of cytokines in human endometrial epithelial and stromal cells and the cytokine production of spermatozoa were investigated in vitro. Seminal plasma and spermatozoa were collected from healthy volunteers and were screened by enzyme-linked immunosorbent assay for c...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gag095
更新日期:2003-12-01 00:00:00
abstract:STUDY QUESTION:Is it possible to identify original compounds that are able to enhance sperm motility from the venom of the scorpion Scorpio maurus palmatus? SUMMARY ANSWER:We identified a potent disulfide-rich peptide (DRP) of 73 amino acids that significantly improved the motility of fresh and frozen-thawed sperm in ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaw075
更新日期:2017-02-10 00:00:00
abstract::Human sperm contain similar amounts of protamine-1 (P1) and protamine-2 (P2). Although an aberrant protamine ratio have been observed in subfertile men, functional evidence is provided by protamine knockout mice exhibiting male infertility. As sperm DNA integrity is known to be linked with DNA fragmentation and apopto...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar011
更新日期:2011-07-01 00:00:00
abstract::Sperm are motile cells. Thus, a significant component of the spermatogenic cycle is devoted to the formation of flagellum, a process that must be coordinated to insure proper construction. To document the temporal pattern of flagellar gene expression, we employed real-time PCR to assess changes in accumulation of a co...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah163
更新日期:2005-04-01 00:00:00
abstract::Follicular fluid proteoglycans play an important role in human oocyte maturation, including the development of a fluid-filled compartment and maintenance of the hypocoagulative state of the follicular fluid. Human xylosyltransferase (EC 2.4.2.26, XT) is the key enzyme in the biosynthesis of glycosaminoglycan chains in...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.12.1079
更新日期:2002-12-01 00:00:00