Preimplantation genetic diagnosis for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

abstract：STUDY QUESTION:Does dynamin regulate human sperm acrosomal exocytosis? SUMMARY ANSWER:Our studies of dynamin localization and function have implicated this family of mechanoenzymes in the regulation of progesterone-induced acrosomal exocytosis in human spermatozoa. WHAT IS KNOWN ALREADY:Completion of an acrosome reac...

journal_title：Molecular human reproduction

authors： Zhou W,Anderson AL,Turner AP,De Iuliis GN,McCluskey A,McLaughlin EA,Nixon B

更新日期：2017-10-01 00:00:00

abstract：:Advanced glycation end products (AGEs) affect the follicular microenvironment. The close relationship between AGEs, proinflammatory cytokine production and activation of the unfolded protein response (UPR), which involves activating transcription factor 4 (ATF4), is crucial for regulation of various cellular functions...

journal_title：Molecular human reproduction

authors： Takahashi N,Harada M,Azhary JMK,Kunitomi C,Nose E,Terao H,Koike H,Wada-Hiraike O,Hirata T,Hirota Y,Koga K,Fujii T,Osuga Y

更新日期：2019-11-30 00:00:00

abstract：:Granzyme B (graB) plays a pivotal role in cytotoxic lymphocyte granule-mediated apoptosis through cleavage of intracellular proteins in target cells. Proteinase inhibitor-9 (PI-9) is a potent inhibitor of graB and is highly expressed in cytotoxic lymphocytes. Here, we show by immunohistochemistry that PI-9 is also abu...

journal_title：Molecular human reproduction

authors： Hirst CE,Buzza MS,Sutton VR,Trapani JA,Loveland KL,Bird PI

更新日期：2001-12-01 00:00:00

abstract：:Patients with endometriosis are characterized by the ability of the endometrium to implant and by the peritoneal response to the tissue; angiogenic factors may play a significant role in the aetiology of endometriosis supporting the implantation of ectopic endometrial cells. Vascular endothelial growth factor (VEGF) i...

journal_title：Molecular human reproduction

authors： Fasciani A,D'Ambrogio G,Bocci G,Monti M,Genazzani AR,Artini PG

更新日期：2000-01-01 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

authors： Tang M,Guggilla RR,Gansemans Y,Van der Jeught M,Boel A,Popovic M,Stamatiadis P,Ferrer-Buitrago M,Thys V,Van Coster R,Deforce D,De Sutter P,Van Nieuwerburgh F,Heindryckx B

更新日期：2019-12-01 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

authors： Nishizawa H,Pryor-Koishi K,Suzuki M,Kato T,Kogo H,Sekiya T,Kurahashi H,Udagawa Y

更新日期：2008-10-01 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

authors： Benoff S,Hurley IR,Mandel FS,Cooper GW,Hershlag A

更新日期：1997-10-01 00:00:00

abstract：:The distribution and size of a surface membrane antigen identified by a monoclonal antibody (MAC9393) have been examined in testicular and epididymal bovine sperm preparations. Western blots indicated a substantial decrease in molecular mass of the antigen during epididymal maturation from approximately 87 kDa in the ...

journal_title：Molecular human reproduction

authors： Howes EA,Hurst S,Laslop A,Jones R

更新日期：1998-07-01 00:00:00

abstract：:The aim of this study was to determine the effects of tumour necrosis factor alpha (TNF), interleukin-1 alpha (IL-1alpha), macrophage colony-stimulating factor (MCSF) and transforming growth factor beta (TGFbeta) on the secretion of matrix metalloproteinases (MMP), human chorionic gonadotrophin (HCG) and fetal fibrone...

journal_title：Molecular human reproduction

authors： Meisser A,Chardonnens D,Campana A,Bischof P

更新日期：1999-03-01 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

authors： Sharma H,Mavuduru RS,Singh SK,Prasad R

更新日期：2014-09-01 00:00:00

abstract：:Fluorescent in situ hybridization (FISH) studies of human preimplantation embryos have demonstrated a high proportion of chromosomal mosaicism. To investigate the different timings and nature of chromosomal mosaicism, we developed single cell multiplex fluorescent (FL)-PCR to distinguish meiotic and mitotic cell divis...

journal_title：Molecular human reproduction

authors： Katz-Jaffe MG,Trounson AO,Cram DS

更新日期：2004-02-01 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

authors： Gross V,Dubey A,Penzias AS,Layman L,Reindollar R,Ducibella T

更新日期：1996-12-01 00:00:00

abstract：:Chemokines are implicated in the implantation process. The aim of this study was to investigate mRNA expression and protein levels of chemokine receptors CXCR1, CXCR4, CCR5 and CCR2B in human endometrium throughout the menstrual cycle, during HRT and in the human blastocyst. The regulation of chemokine receptors in th...

journal_title：Molecular human reproduction

authors： Dominguez F,Galan A,Martin JJ,Remohi J,Pellicer A,Simón C

更新日期：2003-04-01 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

authors： Li L,Zhou X,Wang X,Wang J,Zhang W,Wang B,Cao Y,Kee K

更新日期：2016-09-01 00:00:00

abstract：:Psoriasin is a small calcium-binding protein first found in psoriatic lesions and also up-regulated in other inflammatory skin diseases and cancer tissues. Psoriasin is also present in the fetal epithelial cells. Its biological function is unclear, but there is both in vitro and in vivo evidence for its chemokine-like...

journal_title：Molecular human reproduction

authors： Porre S,Heinonen S,Mäntyjärvi R,Rytkönen-Nissinen M,Perola O,Rautiainen J,Virtanen T

更新日期：2005-02-01 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

authors： Fagundes NS,Michalczechen-Lacerda VA,Caixeta ES,Machado GM,Rodrigues FC,Melo EO,Dode MA,Franco MM

更新日期：2011-02-01 00:00:00

abstract：:Surfactant protein D (SP-D) plays a role in innate immunity against various pathogens and in vivo studies have demonstrated that SP-D also has anti-inflammatory properties. SP-D was originally demonstrated in alveolar type II cells, but recent studies have shown extrapulmonary expression of SP-D indicating a systemic ...

journal_title：Molecular human reproduction

authors： Leth-Larsen R,Floridon C,Nielsen O,Holmskov U

更新日期：2004-03-01 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

authors： Jiang L,Huang H,Qian Y,Li Y,Chen X,Di N,Yang D

更新日期：2020-08-01 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

authors： Altmäe S,Martínez-Conejero JA,Salumets A,Simón C,Horcajadas JA,Stavreus-Evers A

更新日期：2010-03-01 00:00:00

abstract：:Survivin is a novel inhibitor of apoptosis. It has been reported that survivin is expressed during fetal development and in cancer tissues, but its expression has not been reported in adult tissues. We investigated the expression of survivin in the endometria of women with regular menstrual cycles using reverse transc...

journal_title：Molecular human reproduction

authors： Konno R,Yamakawa H,Utsunomiya H,Ito K,Sato S,Yajima A

更新日期：2000-06-01 00:00:00

abstract：:Oocytes are usually the largest cells in the body and as such offer unique opportunities for single-cell analysis. Unfortunately, these cells are also some of the rarest in the mammalian female, usually necessitating single-cell analysis. In cases of infertility in humans, determining the quality of the oocyte is ofte...

journal_title：Molecular human reproduction

authors： Brayboy LM,Wessel GM

更新日期：2016-03-01 00:00:00

abstract：:Testis expressed gene 18 (Tex18) is a small gene with one exon of 240 bp, which is specifically expressed in male germ cells. The gene encodes for a protein of 80 amino acids with unknown domain. To investigate the function of (Tex18) gene, we generated mice with targeted disruption of the (Tex18) gene by homologous r...

journal_title：Molecular human reproduction

authors： Jaroszynski L,Dev A,Li M,Meinhardt A,de Rooij DG,Mueller C,Böhm D,Wolf S,Adham IM,Wulf G,Engel W,Nayernia K

更新日期：2007-03-01 00:00:00

abstract：:Charcot-Marie-Tooth (CMT) disease is the 'common' name for a range of hereditary peripheral neuropathies. CMT1 is the most common form and is transmitted in an autosomal dominant manner. CMT1A maps to chromosome 17p11.2 and is caused, in the majority of cases, by a 1.5 Mb DNA duplication, that includes the peripheral ...

journal_title：Molecular human reproduction

authors： De Vos A,Sermon K,De Rijcke M,Goossens V,Henderix P,Van Ranst N,Platteau P,Lissens W,Devroey P,Van Steirteghem A,Liebaers I

更新日期：2003-07-01 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

authors： Yurov YB,Saias MJ,Vorsanova SG,Erny R,Soloviev IV,Sharonin VO,Guichaoua MR,Luciani JM

更新日期：1996-09-01 00:00:00

abstract：:A novel gene, TSG23/Tsg23, was identified by comparing the expression profiles of human adult and fetal testis using Affymetrix Genechips. RT-PCR analysis from multiple human and mouse tissues indicated TSG23/Tsg23 mRNA was mainly expressed in the testis. In situ hybridization revealed that TSG23/Tsg23 mRNA was locate...

journal_title：Molecular human reproduction

authors： Zhou Y,Qin D,Tang A,Zhou D,Qin J,Yan B,Diao R,Jiang Z,Cai Z,Gui Y

更新日期：2009-04-01 00:00:00

abstract：STUDY QUESTION:Are there novel hyaladherins in human sperm? SUMMARY ANSWER:Zona pellucida-binding protein 2 (ZPBP2), containing a Link-like hyaluronic acid (HA)-binding domain, and several other proteins containing BX7B motifs, such as ADAM32 and Midkine, may be novel hyaladherins with HA-binding properties. WHAT IS ...

journal_title：Molecular human reproduction

authors： Torabi F,Bogle OA,Estanyol JM,Oliva R,Miller D

更新日期：2017-12-01 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

authors： Vicens A,Gómez Montoto L,Couso-Ferrer F,Sutton KA,Roldan ER

更新日期：2015-02-01 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

authors： Brandenberger AW,Lebovic DI,Tee MK,Ryan IP,Tseng JF,Jaffe RB,Taylor RN

更新日期：1999-07-01 00:00:00

abstract：:Previous studies have implicated receptor tyrosine kinases in progesterone-induced [Ca2+]i signalling, and consequent induction of the acrosome reaction, in human spermatozoa. We have investigated the effects of tyrosine kinase inhibition on [Ca2+]i responses in large numbers of individual human spermatozoa. Genistein...

journal_title：Molecular human reproduction

authors： Kirkman-Brown JC,Lefièvre L,Bray C,Stewart PM,Barratt CL,Publicover SJ

更新日期：2002-04-01 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

authors： Götting C,Kuhn J,Tinneberg HR,Brinkmann T,Kleesiek K

更新日期：2002-12-01 00:00:00