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molecular infertility

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https://www.readbyqxmd.com/read/27905141/first-case-of-sterility-associated-with-sex-chromosomal-abnormalities-in-a-jenny
#1
J Dorado, G Anaya, M Bugno-Poniewierska, A Molina, A Mendez-Sanchez, I Ortiz, M Moreno-Millán, M Hidalgo, P Peral García, S Demyda-Peyrás
Chromosomal abnormalities are one of the main causes of genetic infertility in horses. Currently, their detection rate is rising due to the use of new diagnostic tools employing molecular markers linked to the sex chromosome pair. Despite genetic similarities, there are no previous reports of sterility associated with chromosomal abnormalities in the domestic donkey (Equus asinus). Hereby, we determined the presence of a chromosomal mosaicism in a female donkey with reproductive problems using molecular methodologies developed for horses...
December 1, 2016: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/27904014/male-infertility-related-molecules-involved-in-sperm-oocyte-fusion
#2
Lisha Mou, Ni Xie
Male infertility has become a very serious problem in the human reproduction system, but the molecular mechanism of infertility remains largely unknown. Fertilization is the phenomenon in which a sperm and oocyte find each other, interact, and fuse. Sperm-oocyte fusion-related factors on the sperm side play crucial roles in male infertility. For example, IZUMO1 is well-known as a sperm protein essential for fusion of a sperm and oocyte, but its dysfunction or mutation can result in male infertility. Recent studies showed a novel sperm protein named Bactericidal/permeability-increasing protein (BPI), which takes part in the sperm-oocyte fusion process...
December 1, 2016: Journal of Reproduction and Development
https://www.readbyqxmd.com/read/27898696/regulation-of-gonad-morphogenesis-in-drosophila-melanogaster-by-btb-family-transcription-factors
#3
Diane Silva, Kenneth W Olsen, Magdalena N Bednarz, Andrew Droste, Christopher P Lenkeit, Edwin Chaharbakhshi, Emily R Temple-Wood, Jennifer C Jemc
During embryogenesis, primordial germ cells (PGCs) and somatic gonadal precursor cells (SGPs) migrate and coalesce to form the early gonad. A failure of the PGCs and SGPs to form a gonad with the proper architecture not only affects germ cell development, but can also lead to infertility. Therefore, it is critical to identify the molecular mechanisms that function within both the PGCs and SGPs to promote gonad morphogenesis. We have characterized the phenotypes of two genes, longitudinals lacking (lola) and ribbon (rib), that are required for the coalescence and compaction of the embryonic gonad in Drosophila melanogaster...
2016: PloS One
https://www.readbyqxmd.com/read/27898339/dietary-phytochemicals-for-possible-preventive-and-therapeutic-option-of-uterine-fibroids-signaling-pathways-as-target
#4
REVIEW
Md Soriful Islam, James H Segars, Mario Castellucci, Pasquapina Ciarmela
A growing interest has emerged on dietary phytochemicals to control diverse pathological conditions. Unfortunately, dietary phytochemical research in uterine fibroids is still under construction. Uterine fibroids/leiomyomas are benign tumors developing from the myometrium of the uterus in premenopausal women. They may occur in more than 70% of women, and approximately 25% of women show clinically significant symptoms. These include heavy and prolonged menstrual bleeding, pelvic pressure (urinary frequency, incontinence, and difficulty with urination), pelvic pain, pelvic mass, infertility, and reproductive dysfunction...
October 20, 2016: Pharmacological Reports: PR
https://www.readbyqxmd.com/read/27898267/combining-treatment-with-myo-inositol-and-d-chiro-inositol-40-1-is-effective-in-restoring-ovary-function-and-metabolic-balance-in-pcos-patients
#5
Giovanni Monastra, Vittorio Unfer, Abdel Halim Harrath, Mariano Bizzarri
Polycystic ovary syndrome (PCOS), a relevant cause of infertility, is a heterogeneous, endocrine disorder affecting up to 10-15% of women in reproductive age. Besides hyperandrogenism, insulin resistance (IR) plays a key role in such syndrome. Insulin-sensitizing drugs, such as Metformin, are effective in treating hyper-insulinemic PCOS patients. Recently, inositols - myo-inositol (MI) and D-chiro-inositol (DCI) - have shown to be an efficient and safe alternative in PCOS management, as both inositol isoforms are able to counteract downstream consequences of insulin resistance...
November 29, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27891704/isoflavone-genistein-inhibits-estrogen-induced-chloride-and-bicarbonate-secretory-mechanisms-in-the-uterus-in-rats
#6
Asma Chinigarzadeh, Kamarulzaman Karim, Sekaran Muniandy, Naguib Salleh
We hypothesized that genistein could affect the chloride (Cl(-) ) and bicarbonate (HCO3(-) ) secretory mechanisms in uterus. Ovariectomized female rats were given estradiol or estradiol plus progesterone with 25, 50, or 100 mg/kg/day genistein. Following completion of the treatment, uterine fluid Cl(-) and HCO3(-) concentrations were determined by in vivo uterine perfusion. Uteri were subjected for molecular biological analysis (Western blot, qPCR, and immunohistochemistry) to detect levels of expression of Cystic Fibrosis transmembrane regulator (CFTR), Cl(-) /HCO3(-) exchanger (SLC26a6), Na(+) /HCO3(-) cotransporter (SLC4a4), and estrogen receptor (ER)-α and β...
November 28, 2016: Journal of Biochemical and Molecular Toxicology
https://www.readbyqxmd.com/read/27891185/spermatozoal-cell-death-inducing-dna-fragmentation-factor-%C3%AE-like-effector-a-cidea-gene-expression-and-dna-fragmentation-in-infertile-men-with-metabolic-syndrome-and-normal-seminogram
#7
Ayman Z Elsamanoudy, Hussein Abdelaziz Abdalla, Mohammed Hassanien, Mohammad A Gaballah
BACKGROUND: This is the first study to investigate spermatozoal cell death-inducing DNA fragmentation factor-α-like effector A (CIDEA) gene expression and DNA fragmentations in the spermatozoa of men diagnosed with metabolic syndrome (MS) who have normal seminograms with unexplained infertility, and to correlate these parameters with seminal glucose concentration. METHODS: This study included 120 participants: 75 male subjects with MS (38 fertile and 37 infertile), and a control group of 45 fertile males without MS...
2016: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/27886257/an-evolutionary-conserved-interaction-between-the-gcm-transcription-factor-and-the-sf1-nuclear-receptor-in-the-female-reproductive-system
#8
Pierre B Cattenoz, Claude Delaporte, Wael Bazzi, Angela Giangrande
NR5A1 is essential for the development and for the function of steroid producing glands of the reproductive system. Moreover, its misregulation is associated with endometriosis, which is the first cause of infertility in women. Hr39, the Drosophila ortholog of NR5A1, is expressed and required in the secretory cells of the spermatheca, the female exocrine gland that ensures fertility by secreting substances that attract and capacitate the spermatozoids. We here identify a direct regulator of Hr39 in the spermatheca: the Gcm transcription factor...
November 25, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27879344/failure-to-launch-aberrant-cumulus-gene-expression-during-oocyte-in-vitro-maturation
#9
Hannah Mary Brown, Kylie Dunning, Melanie Sutton-McDowall, Rob B Gilchrist, Jeremy G Thompson, Darryl L Russell
In vitro maturation (IVM) offers significant benefits for human infertility treatment and animal breeding, but this potential is yet to be fully realised due to reduced oocyte developmental competence in comparison with in vivo matured oocytes. Cumulus cells occupy an essential position in determining oocyte developmental competence. Here we have examined the areas of deficient gene expression, as determined within microarrays primarily from cumulus cells of mouse COCs, but also other species, between in vivo matured and in vitro matured oocytes...
November 22, 2016: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/27871060/involvement-of-serum-glucocorticoid-regulated-kinase-1-in-reproductive-success
#10
REVIEW
Yiyun Lou, Minhao Hu, Luna Mao, Yingming Zheng, Fan Jin
Reproductive processes, in particular events that concern pregnancy, are fine-tuned to produce offspring. Reproductive success is of prime importance for the survival of every species. The highly conserved and ubiquitously expressed serum glucocorticoid-regulated kinase 1 (SGK1) was first implicated in infertility as a regulator of a Na(+) channel. In this review, we emphasize the prominent role of SGK1 during early pregnancy: 1) balancing uterine luminal fluid secretion and reabsorption to aid blastocyst adhesion and to import nutrients and energy; 2) transducing signals from the blastocyst to the receptive endometrium; 3) inducing multiple genes that are involved in uterine receptivity and trophoblast invasion; 4) regulating cell differentiation and antioxidant defenses at the fetomaternal interface; and 5) contributing to the proliferation and survival of decidual stromal cells...
November 9, 2016: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/27864336/bmp4-promotes-mouse-ips-cell-differentiation-to-male-germ-cells-via-smad1-5-gata4-id1-and-id2
#11
Shi Yang, Qingqing Yuan, Minghui Niu, Jingmei Hou, Zijue Zhu, Min Sun, Zheng Li, Zuping He
Generation of male germ cells from pluripotent cells could provide male gametes for treating male infertility and offer an ideal model for unveiling molecular mechanisms of spermatogenesis. However, the influence and exact molecular mechanisms, especially downstream effectors of BMP4 signaling pathways, in male germ cell differentiation of the induce pluripotent stem (iPS) cells, remain unknown. This study was designed to explore the role and mechanism of BMP4 signaling in the differentiation of mouse induced pluripotent stem (iPS) cells to male germ cells...
November 18, 2016: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/27834916/systematic-analysis-of-protein-interaction-network-associated-with-azoospermia
#12
Soudabeh Sabetian, Mohd Shahir Shamsir
Non-obstructive azoospermia is a severe infertility factor. Currently, the etiology of this condition remains elusive with several possible molecular pathway disruptions identified in the post-meiotic spermatozoa. In the presented study, in order to identify all possible candidate genes associated with azoospermia and to map their relationship, we present the first protein-protein interaction network related to azoospermia and analyze the complex effects of the related genes systematically. Using Online Mendelian Inheritance in Man, the Human Protein Reference Database and Cytoscape, we created a novel network consisting of 209 protein nodes and 737 interactions...
November 10, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27831554/the-control-of-male-fertility-by-spermatid-specific-factors-searching-for-contraceptive-targets-from-spermatozoon-s-head-to-tail
#13
REVIEW
Su-Ren Chen, Aalia Batool, Yu-Qian Wang, Xiao-Xia Hao, Chawn-Shang Chang, C Yan Cheng, Yi-Xun Liu
Male infertility due to abnormal spermatozoa has been reported in both animals and humans, but its pathogenic causes, including genetic abnormalities, remain largely unknown. On the other hand, contraceptive options for men are limited, and a specific, reversible and safe method of male contraception has been a long-standing quest in medicine. Some progress has recently been made in exploring the effects of spermatid-specifical genetic factors in controlling male fertility. A comprehensive search of PubMed for articles and reviews published in English before July 2016 was carried out using the search terms 'spermiogenesis failure', 'globozoospermia', 'spermatid-specific', 'acrosome', 'infertile', 'manchette', 'sperm connecting piece', 'sperm annulus', 'sperm ADAMs', 'flagellar abnormalities', 'sperm motility loss', 'sperm ion exchanger' and 'contraceptive targets'...
November 10, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27827529/a-design-thinking-approach-to-primary-ovarian-insufficiency
#14
Lisa A Martin, Alison G Porter, Vincent A Pelligrini, Peter A Schnatz, Xuezhi Jiang, Nicole Kleinstreuer, Janet E Hall, Sarah Verbiest, Jill Olmstead, Ryan Fair, Alberto Falorni, Luca Persani, Aleksandar Rajkovic, Khanjan Mehta, Lawrence M Nelson
Most clinicians are not prepared to provide integrated personal care to address all the clinical needs of women with primary ovarian insufficiency. Design thinking is an engineering methodology used to develop and evaluate novel concepts for systems operation. Here we articulate the need for a seamlessly integrated mobile health system to support genomic research as well as patient care. We also review the pathophysiology and management of primary ovarian insufficiency. Molecular understanding regarding the pathogenesis is essential to developing strategies for prevention, earlier diagnosis, and appropriate management of the disorder...
November 9, 2016: Panminerva Medica
https://www.readbyqxmd.com/read/27823636/infertility-risk-and-teratogenicity-of-molecularly-targeted-anticancer-therapy-a-challenging-issue
#15
REVIEW
Elena Lorenzi, Matteo Simonelli, Armando Santoro
The growing population of young cancer survivors and a trend toward postponing pregnancy until later in life are shifting areas of focus toward understanding treatment induced sequelae, particularly the effects of cancer and/or treatment on fertility. Whereas the fertility risk of cytotoxic agents for both men and women is well-recognized, the fertility risks and teratogenic potential associated with molecular targeted therapies are not established. We summarize available preclinical and clinical data on the impact of new molecular targeted agents on fertility in both sexes, and their potential teratogenic effects, providing recommendations for clinicians, where possible...
November 2016: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/27821562/oxidative-stress-in-granulosa-lutein-cells-from-in-vitro-fertilization-patients
#16
Julio Ávila, Rebeca González-Fernández, Deborah Rotoli, Jairo Hernández, Angela Palumbo
Ovarian aging is associated with gradual follicular loss by atresia/apoptosis. Increased production of toxic metabolites such as reactive oxygen species (ROS) and reactive nitrogen species as well as external oxidant agents plays an important role in the process of ovarian senescence and in the pathogenesis of ovarian pathologies such as endometriosis and polycystic ovary syndrome (PCOS). This review provides a synthesis of available studies of oxidative stress (OS) in the ovary, focusing on the most recent evidence obtained in mural granulosa-lutein (GL) cells of in vitro fertilization patients...
December 2016: Reproductive Sciences
https://www.readbyqxmd.com/read/27821561/the-ovarian-renin-angiotensin-system-ovras-a-major-factor-in-ovarian-function-and-disease
#17
Angela Palumbo, Julio Ávila, Frederick Naftolin
This contribution summarizes the pivotal role of the ovarian renin-angiotensin system (OVRAS) in ovarian physiology and disease, with particular emphasis on human clinical implications and established translational applications. The presence of a complete OVRAS in all studied species has been known for decades. The OVRAS has major effects on follicle development/atresia and ovulation and steroid hormone secretion, that is, it is necessary for normal reproduction. It is well established that OVRAS activity is regulated by gonadotropins and depends on activation of proteases in the area of growing follicles...
December 2016: Reproductive Sciences
https://www.readbyqxmd.com/read/27813606/chromosome-7-translocation-breakpoints-in-male-carriers-clinical-features-and-implications-for-genetic-counseling
#18
R X Wang, H G Zhang, Y Pan, J H Zhu, F G Yue, L T Xue, R Z Liu
Balanced reciprocal translocations are associated with reproductive failure. Some reciprocal translocation carriers exhibit azoospermia or oligozoospermia, and an association exists between these chromosomal abnormalities and recurrent abortion. Previous reports have indicated the involvement of chromosome 7 translocations in male infertility and recurrent miscarriage. A translocation breakpoint can occur within an important gene, interrupting its structure and leading to male infertility. However, clinical characteristics resulting from chromosome 7 translocation breakpoints have not been studied...
October 17, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27808367/translocation-breakpoints-of-chromosome-1-in-male-carriers-clinical-features-and-implications-for-genetic-counseling
#19
R X Wang, H G Zhang, Y Pan, S Chen, F G Yue, D L Zhu, R Z Liu
Reciprocal translocation is closely associated with male infertility and recurrent miscarriages. Balanced reciprocal translocations associated with reproductive failures are predominantly observed on chromosome 1. Additionally, infertile male patients present a number of breakpoints throughout chromosome 1. A translocation breakpoint might interrupt the structure of an important gene, leading to male infertility. Here, we report the breakpoints on chromosome 1 translocation and the clinical features presented in carriers, to enable informed genetic counseling of these patients...
October 5, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27798285/endocannabinoid-system-and-pregnancy
#20
REVIEW
Fernando Correa, Manuel L Wolfson, Paula Valchi, Julieta Aisemberg, Ana María Franchi
The endocannabinoid system (eCS), is a complex system, comprising the main endogenous ligands anandamide and 2-arachidonoyl glycerol, the cannabinoid receptors CB1 and CB2 and the biosynthetic and degrading enzymes. Cumulative evidence shows that the eCS plays an important role in reproduction, from egg fertilization to parturition. Therefore, alterations in this system, either by recreation/therapeutic use of cannabis or deregulation of the endogenous cannabinoids, might lead to adverse pregnancy outcomes, including retardation in embryo development, poor blastocyst implantation, inhibition of decidualization, miscarriage and compromised placentation...
December 2016: Reproduction: the Official Journal of the Society for the Study of Fertility
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