Abstract:
:The aetiology of cryptorchidism is for the most part unknown and appears to be multifactorial. Recently, a product of Leydig cells termed Leydig insulin-like hormone (INSL3) has been proposed as a putative trophic hormone of the first part of descent. Absence of Insl3 in male mice results in bilateral cryptorchidism and mutations involving this gene may be a cause of cryptorchidism in man. We sequenced both exons of the human INSL3 gene in 31 men who presented with idiopathic unilateral or bilateral cryptorchidism. The only sequence variant was an amino acid substitution in the C-peptide of the molecule. This change was also found in a control group of normal fertile men indicating that it is a polymorphism unrelated to the phenotype. These results suggest that mutations involving the human INSL3 gene are not a common cause of cryptorchidism in man.
journal_name
Mol Hum Reprodjournal_title
Molecular human reproductionauthors
Krausz C,Quintana-Murci L,Fellous M,Siffroi JP,McElreavey Kdoi
10.1093/molehr/6.4.298subject
Has Abstractpub_date
2000-04-01 00:00:00pages
298-302issue
4eissn
1360-9947issn
1460-2407journal_volume
6pub_type
杂志文章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::Retrograde flow of menstrual blood cells during menstruation is considered as the dominant theory for the development of endometriosis. Moreover, current evidence suggests that endometrial-derived stem cells are key players in the pathogenesis of endometriosis. In particular, endometrial stromal stem cells have been s...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gau044
更新日期:2014-09-01 00:00:00
abstract::Estrogen and selective estrogen receptor modulators (SERMs) differentially impact endometrial cell function, however, the biological basis of these differences is not established. Deregulated cell adhesion to the extracellular matrix, cell movement and invasion are related to endometrial disorders, such as endometrios...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gap045
更新日期:2009-10-01 00:00:00
abstract::Several lines of evidence indicate that mammalian fertilization is initiated via a binding process that is dependent upon the recognition of oligosaccharide sequences associated with zona pellucida (ZP) glycoproteins. Here, specific chemical and enzymatic methods were employed to modify human ZP and to test their effe...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/4.4.318
更新日期:1998-04-01 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::In the interest of classifying cases of male factor infertility, we have paid particular attention to the sugar ligand binding properties of the human sperm surface and the functional capacity of the acrosome for exocytosis--key parameters for assessing sperm fertilizing ability. Zona recognition and binding involve t...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/3.10.827
更新日期:1997-10-01 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::We have investigated the possible roles of oncostatin M (OSM), which is a member of the interleukin-6 family of cytokines, in endometrial and endometriotic stromal cell growth. Endometrial and endometriotic stromal cells were collected from the uterus or ovarian chocolate cysts. We observed the expression of mRNA tran...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/7.7.665
更新日期:2001-07-01 00:00:00
abstract::Preeclampsia (PE) is a severe pregnancy-induced disorder characterized by hypertension and proteinuria and a leading cause of perinatal maternal-fetal mortality and morbidity in developing countries. Dysregulated human leukocyte antigen (HLA)-G was found in placentas as well as in maternal sera from PE patients; howev...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gav037
更新日期:2015-09-01 00:00:00
abstract::The use of interphase fluorescent in situ hybridization (FISH) has shown that a large number of human embryos exhibit chromosomal abnormalities in vitro. The most common abnormality is mosaicism which is seen in up to 50% of preimplantation embryos at all stages of development. In this study, comparative genomic hybri...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gam087
更新日期:2008-02-01 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::Several investigators have noted that hormone-dependent development of endometriosis implants lags behind that of simultaneously analysed eutopic endometrium. With the recent discovery of the oestrogen receptor-beta (ER-beta) isoform, the aim of this study was to investigate whether differences in the expression of ER...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/5.7.651
更新日期:1999-07-01 00:00:00
abstract::The DAZL (DAZ-like) gene is suggested to be an ancestral gene of the DAZ (deleted in azoospermia) gene on the Y chromosome, which is a strong candidate for the azoospermic factor. Recently, it has been reported that the T54A (Thr54-->Ala) polymorphism in exon 3 of the DAZL gene is associated with spermatogenic failure...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah202
更新日期:2005-07-01 00:00:00
abstract::Regulation of germ-cell-specific transcription is essential for the differentiation and other physiological processes of germ cells. Germ-cell-specific transcription factors, Sohlh2 and Figla, play key roles in gametogenesis. To elucidate whether an epigenetic mechanism is involved in the controlled expression of Sohl...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar017
更新日期:2011-09-01 00:00:00
abstract::Prevention of mitochondrial DNA (mtDNA) diseases may currently be possible using germline nuclear transfer (NT). However, scientific evidence to compare efficiency of different NT techniques to overcome mtDNA diseases is lacking. Here, we performed four types of NT, including first or second polar body transfer (PB1/2...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaz062
更新日期:2019-12-01 00:00:00
abstract:STUDY QUESTION:Can supplementation of media with a glutathione (GSH) donor, glutathione ethyl ester (GEE), prior to vitrification protect the mouse oocyte from oxidative damage and critical changes in redox homeostasis, and thereby improve cryotolerance? SUMMARY ANSWER:GEE supplementation supported redox regulation, r...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaw059
更新日期:2016-12-01 00:00:00
abstract::This study assessed the participation of amphiregulin (AREG) and bone morphogenetic protein 15 (BMP15) during maturation of bovine cumulus-oocyte complexes (COCs) on cumulus cell function and their impact on subsequent embryo development. AREG treatment of COCs enhanced blastocyst formation and quality only when in th...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gau013
更新日期:2014-06-01 00:00:00
abstract::The preimplantation period of life in mammals encompasses a tremendous amount of restructuring and remodeling of the embryonic genome and reprogramming of gene expression. These vast changes support metabolic activation and cellular processes that drive early cleavage divisions and enable the creation of the earliest ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaz001
更新日期:2019-03-01 00:00:00
abstract::Cystic fibrosis (CF) is usually considered a rare disease in the Indian population. Two studies have reported on the frequency of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Indian males with congenital absence of the vas deferens (CAVD), however, data on the spectrum of CFTR gene muta...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gau047
更新日期:2014-09-01 00:00:00
abstract::Etoposide is widely used in the treatment of patients with testicular cancer. The mechanism underlying apoptosis induction in cancer cells has been studied in different cell types, but it is not known whether the same factors participate in viable germ cells undergoing programmed cell death. Since testicular cancer pr...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gap024
更新日期:2009-06-01 00:00:00
abstract::Cytogenetically, uterine leiomyomata are the best investigated human tumours. The most frequent clonal abnormalities are structural rearrangements involving 12q14-15 and deletions of part of the long arm of chromosome 7. The present study investigated a possible growth advantage conferred by these abnormalities, when ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/5.12.1150
更新日期:1999-12-01 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::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 signals initiating the growth of primordial follicles are unknown. Growth factors such as neurotrophin 4/5 (NT-4/5) and brain-derived neurotrophic factor (BDNF) may play a role in this process. To investigate the expression of NT-4/5 and BDNF and their receptor tyrosine kinase B (TrkB) in the early developing foll...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal033
更新日期:2006-06-01 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::Microdeletions within the AZF (azoospermia factor) a, b and c regions of the Y chromosome can be detected worldwide in 1-10% of infertile men. AZFc, containing genes such as DAZ, CDY, RBMY and others, is most frequently deleted and associated with oligo- or azoospermia. The function of the different genes within AZFc ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.8.702
更新日期:2002-08-01 00:00:00
abstract:STUDY QUESTION:Do human adult Leydig cells (ALCs) within hyperplastic micronodules display characteristics of foetal LCs (FLCs)? SUMMARY ANSWER:The gene expression profiles of FLCs and all ALC subgroups were clearly different, but there were no significant differences in expressed genes between the normally clustered ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gax012
更新日期:2017-05-01 00:00:00
abstract:STUDY QUESTION:What is the acceptability of using stem cell-based fertility treatments (SCFT) for different indications according to gynaecologists and the general public? SUMMARY ANSWER:The majority of gynaecologists and the general public accept SCFT for the indications female or male infertility in young heterosexu...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gax027
更新日期:2017-12-01 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::Round spermatids contain high levels of extremely varied mRNAs that are synthesized either throughout early spermatogenesis or during spermiogenesis from the haploid genome. Concomitantly, with major changes in the chromatin organization, arrest of transcription occurs at midspermiogenesis. However, previous investiga...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gah137
更新日期:2005-02-01 00:00:00