Abstract:
:A complete hydatidiform mole (CHM) is an abnormal pregnancy with hyperproliferative vesicular trophoblast and no fetal development. Most CHM are sporadic and androgenetic, but recurrent HM have biparental inheritance (BiHM) with disrupted DNA methylation at differentially methylated regions (DMRs) of imprinted loci. Some women with recurrent BiHM have mutations in the NLRP7 gene on chromosome 19q13.42. Using bisulfite genomic sequencing at eight imprinted DMRs on DNA from two BiHMs, we found a pattern of failure to acquire or maintain DNA methylation at DMRs (PEG3, SNRPN, KCNQ1OT1, GNAS exon 1A) that normally acquire CpG methylation during oogenesis, but not at H19, which acquires CpG methylation during spermatogenesis. Secondary imprints at the GNAS locus showed variable abnormal patterns with both gain and loss of CpG methylation. We found novel missense and splice-site mutations in NLRP7 in women with non-familial recurrent BiHM. We identified and characterized a homozygous intragenic tandem duplication including exons 2 through 5 of NLRP7 that results in a predicted truncated protein in affected women of three unrelated Egyptian kindreds, suggesting a founder effect. Our findings firmly establish that NLRP7 mutations are a major cause of BiHM and confirm presence of a complex pattern of imprinting abnormalities in BiHM tissues.
journal_name
Mol Hum Reprodjournal_title
Molecular human reproductionauthors
Kou YC,Shao L,Peng HH,Rosetta R,del Gaudio D,Wagner AF,Al-Hussaini TK,Van den Veyver IBdoi
10.1093/molehr/gam079subject
Has Abstractpub_date
2008-01-01 00:00:00pages
33-40issue
1eissn
1360-9947issn
1460-2407pii
gam079journal_volume
14pub_type
杂志文章abstract::Mouse cauda epididymis were in-vivo transfected using the lipid FuGENE 6 as gene vector. Two gene constructions were employed: the p-GeneGRIP which codifies for the Green Fluorescent Protein (GFP) and the pSEAP-control that expresses an alkaline phosphatase as a secretion. Transfection was detected by fluorescence and...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gap026
更新日期:2009-06-01 00:00:00
abstract::During pregnancy, a cervical connective tissue remodelling takes place, clinically recognized as softening, effacement and dilatation. The role of oestrogens and their receptors (ER) in this process is not clear. ERalpha is a ligand-activated transcription factor involved in many physiological processes. The identific...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/7.3.293
更新日期:2001-03-01 00:00:00
abstract::PKDREJ is a testis-specific protein thought to be located on the sperm surface. Functional studies in the mouse revealed that loss of PKDREJ has effects on sperm transport and the ability to undergo an induced acrosome reaction. Thus, PKDREJ has been considered a potential target of post-copulatory sexual selection in...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gau095
更新日期:2015-02-01 00:00:00
abstract::Oocyte quality is one of the most important aspects of in vitro embryo development. Extensive epigenetic programming must occur during oocyte growth and maturation. A specific DNA methylation pattern of the imprinted genes must be established on differentially methylated regions (DMR). The insulin-like growth factor 2...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaq075
更新日期:2011-02-01 00:00:00
abstract::Ovaries surgically removed for fertility preservation from a total of 24 women served as a source of human small antral follicles, including the follicular fluid (FF) and the corresponding granulosa cells (GC). The FF was used to evaluate the intrafollicular concentrations of anti-Müllerian hormone (AMH), inhibin-B, e...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaq001
更新日期:2010-09-01 00:00:00
abstract::The etiology of preeclampsia is complex, with susceptibility being attributable to multiple environmental factors and a large genetic component. Although many candidate genes for preeclampsia have been suggested and studied, the specific causative genes still remain to be identified. Catechol-O-methyltransferase (COMT...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar014
更新日期:2011-07-01 00:00:00
abstract::Successful intracytoplasmic sperm injection (ICSI) is dependent upon the competence of the oocyte to respond to the injection of a spermatozoon in the presence of calcium. This study determined if oocytes that failed to become fertilized (absence of any pronuclei) failed to undergo cytoplasmic activation, as ascertain...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.12.959
更新日期:1996-12-01 00:00:00
abstract::In spite of progress in diagnosis and treatment, prostate cancer has become one of the most frequent lethal cancers in males in many Western industrialized countries. Research on the molecular biology of prostate cancer is expected to reveal those aspects of Western lifestyle contributing to its high incidence with th...
journal_title:Molecular human reproduction
pub_type: 杂志文章,评审
doi:10.1093/molehr/gag064
更新日期:2003-08-01 00:00:00
abstract::MicroRNAs (miRNAs) are small, noncoding RNAs that negatively regulate gene expression post-transcriptionally. We explored whether connexin 43 (Cx43) was differently expressed in luteinized granulosa cells from women with polycystic ovary syndrome (PCOS) compared with luteinized granulosa cells from women with a normal...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaaa044
更新日期:2020-08-01 00:00:00
abstract::Ever since work on pluripotency induction was originally published, reporting the reprogramming of somatic cells to induced pluripotent stem cells (iPS cells) by the ectopic expression of the four transcription factors Oct4, Sox2, Klf4 and c-Myc, high expectations regarding their potential use for regenerative medicin...
journal_title:Molecular human reproduction
pub_type: 杂志文章,评审
doi:10.1093/molehr/gaq059
更新日期:2010-11-01 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::We investigated the expression of methyl transferase G9a and methylated histone H3-K9 in fresh human decidual/endometrial tissue of 12 normal early pregnancies and 15 unexplained recurrent spontaneous abortions (URSA). The samples were obtained through dilatation and curettage and collected as per strict inclusion-exc...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar038
更新日期:2011-11-01 00:00:00
abstract::Polar body emission is a specialized cell division throughout the animal kingdom, serving to reduce chromosome ploidy while preserving the egg cytoplasm. Critical to polar body emission are the asymmetric positioning of the meiotic spindle prior to anaphase, with one pole attached to the oocyte cortex, and the simulta...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar026
更新日期:2011-05-01 00:00:00
abstract::Commercial hMG drugs are marketed for the treatment of infertility and consist of highly purified hormones acting on receptors expressed in target gonadal cells. Menopur® and Meriofert® are combined preparation of FSH and hCG and are compared in vitro herein. To this purpose, the molecular composition of the two drugs...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaaa070
更新日期:2020-12-10 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::The two estrogen receptors, ERalpha and ERbeta, are likely to have roles in the pathophysiology of fibroid development. They have been detected in myometrial and leiomyoma (fibroid) tissue, but the cell types expressing ERalpha and ERbeta have not been determined. ERs have also been detected in human endothelial cells...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.8.770
更新日期:2002-08-01 00:00:00
abstract::Multiple types and subtypes, including splice variants, of cyclic nucleotide phosphodiesterases (PDE) have been shown to be expressed in various tissues and organs. They control the intracellular level of cyclic nucleotides and are involved in hormonal signalling. In human spermatozoa, PDE play an important role in th...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/5.8.732
更新日期:1999-08-01 00:00:00
abstract::The involvement of protein kinases in platelet activating factor (PAF)-induced acrosome reaction of human spermatozoa was investigated using specific inhibitors of protein kinase A (PKA), protein kinase C (PKC) and protein tyrosine kinase (PTK). PAF (10(-9)-10(-11) M) treatment of spermatozoa enhanced the acrosome rea...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.6.401
更新日期:1996-06-01 00:00:00
abstract::The Prader-Willi (PWS) and Angelman (AS) syndromes are two clinically distinct syndromes which result from lack of expression of imprinted genes within chromosome 15q11-q13. These two syndromes result from 15q11-q13 deletions, chromosome 15 uniparental disomy (UPD), imprinting centre mutations and, for AS, probable mu...
journal_title:Molecular human reproduction
pub_type: 杂志文章,评审
doi:10.1093/molehr/3.4.321
更新日期:1997-04-01 00:00:00
abstract::Oxidative damage by reactive oxygen species (ROS) is a major cause of sperm dysfunction. Excessive ROS generation reduces fertilization and enhances DNA damage of spermatozoa. Interaction between spermatozoa and oviductal epithelial cells improves the fertilizing ability of and reduces chromatin damage in spermatozoa....
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gav015
更新日期:2015-06-01 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::In mammals, egg activation is initiated by multiple cytosolic Ca(2+) transients (Ca(2+) oscillations) that are triggered following delivery of a putative sperm factor from the fertilizing sperm. The identity of this 'sperm factor' thus holds much significance, not only as a vital component in creating a new life, but ...
journal_title:Molecular human reproduction
pub_type: 杂志文章,评审
doi:10.1093/molehr/gav009
更新日期:2015-05-01 00:00:00
abstract::Villous tissues from 30 spontaneous abortions and the same number of artificial abortions were obtained and analysed for the frequency of polyploid cells. Single cell suspensions were made from these tissues without culture and the ploidy of > 100 cells was analysed. Trisomies of chromosomes 17 and 4 have rarely been ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/3.5.445
更新日期:1997-05-01 00:00:00
abstract::SUN domain proteins are integral proteins of the inner nuclear membrane and functions in linkage of the nuclear lamina to the cytoskeleton. Moreover, SUN domain proteins seem to mediate the tethering of the centrosome to the nuclear membrane, and they are involved in telomere attachment to the nuclear envelope in meio...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaq099
更新日期:2011-04-01 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::Oligozoospermia (low sperm count) is a common semen deficiency. However, to date, few genetic defects have been identified to cause this condition. Moreover, even fewer molecular genetic diagnostic tests are available for patients with oligozoospermia in the andrology clinic. Based on animal and gene expression studie...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gat008
更新日期:2013-06-01 00:00:00
abstract::A major challenge in the comprehension of the endometrial transformations leading to the completion of each menstrual cycle in humans is in the identification of specific molecular pathways underlying these monthly turnovers. Towards this goal we compared, by the differential display technique, the relative expression...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gag084
更新日期:2003-11-01 00:00:00
abstract::Endometriosis is a gynaecological disease with a certain genetic background, but the locations of possible genomic aberrations are still poorly clarified. Intercellular adhesion molecule-1 (ICAM-1), which is a surface glycoprotein that promotes adhesion in immunological and inflammatory reactions, seems to play a role...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gag002
更新日期:2003-01-01 00:00:00
abstract::The objectives of this study were to determine if human ejaculated sperm exhibit active caspases and if caspase-dependent apoptosis markers are identifiable. Sperm from fertile donors and infertile patients were examined after gradient separation into leukocyte-free fractions of high and low motility. Sperm were evalu...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.11.984
更新日期:2002-11-01 00:00:00
abstract::Binder of SPerm (BSP) proteins are a family of proteins expressed exclusively in the male reproductive tract (seminal vesicles or epididymis) of several mammalian species. They are known to promote capacitation, a sperm maturation step essential for fertilization. Our recent studies have shown that in human, the Binde...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gau006
更新日期:2014-05-01 00:00:00