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https://www.readbyqxmd.com/read/28541421/a-homozygous-donor-splice-site-mutation-in-the-meiotic-gene-msh4-causes-primary-ovarian-insufficiency
#1
Carolina Carlosama, Maëva El Zaiat, Liliana C Patiño, Heidi E Mateus, Reiner A Veitia, Paul Laissue
Premature ovarian insufficiency (POI) is a frequent pathology that affects women under 40 years of age, characterized by an early cessation of menses and high FSH levels. Despite recent progresses in molecular diagnosis, the etiology of POI remains idiopathic in most cases. Whole-exome sequencing of members of a Colombian family affected by POI allowed us to identify a novel homozygous donor splice-site mutation in the meiotic gene MSH4 (MutS Homolog 4). The variant followed a strict mendelian segregation within the family and was absent in a cohort of 135 women over 50 years of age without history of infertility, from the same geographical region as the affected family...
May 24, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28534271/optic-disc-granuloma-with-epididymitis-a-diagnostic-challenge
#2
Parthopratim Dutta Majumder, Sowkath Ali, Jyotirmay Biswas
BACKGROUND: Sarcoidosis and tuberculosis (TB) share epidemiological, immunological, and molecular features common to both, and often, it becomes difficult to differentiate them especially in a highly TB-endemic country like India. We report a case of optic disc granuloma along with epididymitis and infertility in a male who showed a response to treatment with anti-tuberculosis therapy and steroids. RESULTS: A 35-year-old Indian male who presented with complaints of blurring vision in the right eye for 6 months and treated elsewhere with two intravitreal injections of anti-VEGF was found to have optic disc granuloma in the right eye...
December 2017: Journal of Ophthalmic Inflammation and Infection
https://www.readbyqxmd.com/read/28521061/extracellular-camp-activates-molecular-signalling-pathways-associated-with-sperm-capacitation-in-bovines
#3
Carlos Agustín I Alonso, Claudia E Osycka-Salut, Luciana Castellano, Andreína Cesari, Nicolás Di Siervi, Adrián Mutto, Anders Johannisson, Jane M Morrell, Carlos Davio, Silvina Perez-Martinez
STUDY QUESTION: Is extracellular cAMP involved in the regulation of signalling pathways in bovine sperm capacitation? SUMMARY ANSWER: Extracellular cAMP-induced sperm capacitation through the activation of different signalling pathways that involve phospholipase C (PLC), PKC/ERK1-2 signalling and an increase in sperm Ca2+ levels, as well as soluble AC and cAMP/protein kinase A (PKA) signalling. WHAT IS KNOWN ALREADY: In order to fertilize the oocyte, ejaculated spermatozoa must undergo a series of changes in the female reproductive tract, known as capacitation...
May 18, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28505621/gnrha-treatment-of-cryptorchid-boys-affects-genes-involved-in-hormonal-control-of-the-hpg-axis-and-fertility
#4
Faruk Hadziselimovic, Katharina Gegenschatz-Schmid, Gilvydas Verkauskas, Philippe Demougin, Vytautas Bilius, Darius Dasevicius, Michael B Stadler
The gonadotropin-releasing hormone agonist (GnRHa; Buserelin) rescues fertility during adulthood in the majority of high infertility risk cryptorchid boys presenting with defective mini-puberty. However, the molecular events governing this effect are not understood. We report the outcome of an RNA profiling analysis of testicular biopsies from 4 operated patients who were treated with GnRHa for 6 months versus 3 operated controls who were not treated. GnRHa induces a significant transcriptional response, including protein-coding genes involved in pituitary development, the hypothalamic-pituitary-gonadal axis, and testosterone synthesis...
May 16, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28505269/new-mutations-in-non-syndromic-primary-ovarian-insufficiency-patients-identified-via-whole-exome-sequencing
#5
Liliana Catherine Patiño, Isabelle Beau, Carolina Carlosama, July Constanza Buitrago, Ronald González, Carlos Fernando Suárez, Manuel Alfonso Patarroyo, Brigitte Delemer, Jacques Young, Nadine Binart, Paul Laissue
STUDY QUESTION: Is it possible to identify new mutations potentially associated with non-syndromic primary ovarian insufficiency (POI) via whole-exome sequencing (WES)? SUMMARY ANSWER: WES is an efficient tool to study genetic causes of POI as we have identified new mutations, some of which lead to protein destablization potentially contributing to the disease etiology. WHAT IS KNOWN ALREADY: POI is a frequently occurring complex pathology leading to infertility...
May 13, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28490482/conditional-ablation-of-raptor-in-the-male-germ-line-causes-infertility-due-to-meiotic-arrest-and-impaired-inactivation-of-sex-chromosomes
#6
Mengneng Xiong, Zhiping Zhu, Suwen Tian, Ruping Zhu, Shun Bai, Kaiqiang Fu, James G Davis, Zheng Sun, Joseph A Baur, Ke Zheng, Lan Ye
Rapamycin is a clinically important drug that is used in transplantation and cancer therapy but which causes a number of side effects, including male infertility. Its canonical target, mammalian target of rapamycin complex 1 (mTORC1), plays a key role in metabolism and binds chromatin; however, its precise role in the male germ line has not been elucidated. Here, we inactivate the core component, Raptor, to show that mTORC1 function is critical for male meiosis and the inactivation of sex chromosomes. Disruption of the Raptor gene impairs chromosomal synapsis and prevents the efficient spreading of silencing factors into the XY chromatin...
May 10, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28490276/endometrial-stromal-and-epithelial-cells-exhibit-unique-aberrant-molecular-defects-in-patients-with-endometriosis
#7
Philip C Logan, Pamela Yango, Nam D Tran
CONTEXT: Endometriosis is a chronic inflammatory disease that causes pain and infertility in women of reproductive age. OBJECTIVE: To investigate the pathologic pathways in endometrial stromal and epithelial cells that contribute to the manifestation of endometriosis. DESIGN: In vitro cellular and molecular analyses of isolated eutopic endometrial stromal and epithelial cells. METHODS: Eutopic stromal and epithelial cells from endometriotic and normal patients were isolated by fluorescence-activated cell sorting for paired sibling RNA sequencing and microRNA microarray...
January 1, 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28488740/ethanol-induced-mitophagy-in-rat-sertoli-cells-implications-for-male-fertility
#8
N Eid, Y Kondo
Autophagy is a pro-survival mechanism involving lysosomal degradation of damaged cellular components following multiple forms of cellular stress. There is currently a lack of literature on the mechanism, and specifically on mitophagy (selective autophagy of damaged pro-apoptotic mitochondria) in Sertoli cells (SCs). Against such a background, the authors induced mitophagy in SCs of adult male rats using a single injection of ethanol (5 g/kg) and observed mitophagy in the SCs via transmission electron microscopy 24 hr later...
May 10, 2017: Andrologia
https://www.readbyqxmd.com/read/28481628/microdeletions-at-dys448-and-dys387s1-associate-with-increased-risk-of-male-infertility
#9
Yanqing Li, Qiurong Zhao, Hai Liu
Male infertility affects many people of reproductive age. Diagnosis and therapies based on descriptive semen parameters have helped some of the infertility patients; however, further progress in reproductive therapy demands a better understanding of the molecular and genetic causes for male infertility. Although Y chromosome microdeletions have been a hot subject of genetic studies on male infertility, the relationship between male infertility and microdeletions at Y chromosome loci DYS448, DYS387, and DYS627 remains unclear...
May 8, 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/28475617/regulation-of-the-pi3k-akt-pathway-during-decidualization-of-endometrial-stromal-cells
#10
François Fabi, Kathy Grenier, Sophie Parent, Pascal Adam, Laurence Tardif, Valérie Leblanc, Eric Asselin
Infertility is constantly increasing in Canada, where 16% of Canadian couples are experiencing difficulty conceiving. It is thought that infertility can emanate from the dysregulated communication between the embryo and the maternal endometrium. In order to allow for this window of implantation to be open at the right moment, endometrial stromal cells proliferate and differentiate by a mechanism called decidualization. Intracellular and molecular mechanisms involved in the regulation of apoptosis and cell proliferation during decidualization of the endometrium are yet to be fully understood...
2017: PloS One
https://www.readbyqxmd.com/read/28474560/redox-regulation-of-fertility-in-aging-male-and-the-role-of-antioxidants-a-savior-or-stressor
#11
Kristian Leisegang, Ralf Henkel, Ashok Agarwal
Oxidative stress (OS), an imbalance between reactive oxygen species (ROS) and antioxidant scavengers, is considered an important underlying mechanism associated with ageing, age-related chronic diseases and reproductive decline in males. However, OS is an important regulator of numerous molecular pathways essential for homeostasis within cells, tissues and systems. A fine balance between factors promoting OS and those that scavenge ROS is critically important. In the male reproductive tract and ejaculate, ROS are critical molecular players in essential reproductive processes, including spermatogenesis, epididymal transport, spermatozoa maturation and post-ejaculation processes such as motility, capacitation and the acrosome reaction...
October 19, 2016: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28466045/first-report-of-detection-and-molecular-characterization-of-porcine-parvovirus-in-domestic-and-wild-pigs-in-kerala-india
#12
J Aishwarya, Chintu Ravishankar, R Rajasekhar, K Sumod, Nimisha Bhaskar, Shiju Shaji, Koshy John, M Mini
Porcine parvovirus (PPV) is a DNA virus of the genus Parvovirus of family Parvoviridae. It is the causative agent of many disease problems in pigs such as maternal reproductive failure, stillbirth, mummification, embryonic or fetal death, infertility, abortion and neonatal death. A study was conducted to assess the incidence of the virus in pigs in Kerala State in South India. A total of 38 samples were collected from domestic and wild pigs from different districts of the State. Polymerase chain reaction targeting a 265 bp fragment of the NS1 gene of the virus was carried out...
September 2016: Virusdisease
https://www.readbyqxmd.com/read/28439417/cell-free-and-intracellular-nucleic-acids-new-non-invasive-biomarkers-to-explore-male-infertility
#13
REVIEW
Anne Boissière, Anna Gala, Alice Ferrières-Hoa, Tiffany Mullet, Solenne Baillet, Amaël Petiton, Antoine Torre, Samir Hamamah
Male infertility is a devastating problem that affects many couples worldwide. However, the molecular mechanisms and causes of idiopathic male infertility remain unclear. Circulating cell-free nucleic acids have an important role in human physiology and emerging evidence suggests that they play a role in male infertility. This review summarizes recent results on cell-free and intracellular nucleic acids in male infertility and discusses their potential use as biomarkers of male infertility in the clinical practice...
2017: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/28436055/implantation-window-and-angiogenesis
#14
Mostafa Peyvandi Karizbodagh, Bahman Rashidi, Amirhossein Sahebkar, Aria Masoudifar, Hamed Mirzaei
In recent decades, infertility is one of the health problems worldwide. One of the most crucial events in reproductive period is implantation window (IW). In the time after IW period, the embryo cannot connect to the endometrium; therefore the most critical issue for successful implantation is timely entrance of embryo to the uterine cavity during the IW. Implantation failure is responsible for many cases of infertility and is the most important limiting factor for achieving a successful outcome using the assisted reproductive techniques (ART)...
April 24, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28432985/lif-endometrial-expression-is-impaired-in-women-with-unexplained-infertility-while-lif-r-expression-in-all-infertility-sub-groups
#15
Chrysoula Margioula-Siarkou, Yannis Prapas, Stamatios Petousis, Stefanos Milias, Konstantinos Ravanos, Themistoklis Dagklis, Ioannis Kalogiannidis, George Mavromatidis, Constantinos Haitoglou, Nikolaos Prapas, David Rousso
The main objective of our study was to study LIF and LIF-R endometrial expression during the implantation window in the various sub-groups of infertile women according to infertility cause. A prospective observational case-control study was performed from March 2013 to February 2016. Infertile women consisted of the patients' group (group 2) while fertile women were the control group (group 1). Infertile women were divided according to infertility cause in women with tubal factor (group 2a), poor ovarian reserve (group 2b), endometriosis (group 2c) and unexplained infertility (group 2d)...
April 19, 2017: Cytokine
https://www.readbyqxmd.com/read/28431857/modeling-human-infertility-with-pluripotent-stem-cells
#16
Di Chen, Joanna J Gell, Yu Tao, Enrique Sosa, Amander T Clark
Human fertility is dependent upon the correct establishment and differentiation of the germline. This is because no other cell type in the body is capable of passing a genome and epigenome from parent to child. Terminally differentiated germline cells in the adult testis and ovary are called gametes. However, the initial specification of germline cells occurs in the embryo around the time of gastrulation. Most of our knowledge regarding the cell and molecular events that govern human germline specification involves extrapolating scientific principles from model organisms, most notably the mouse...
April 13, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28430907/food-intake-affects-sperm-egg-fusion-through-the-gip-psg17-axis-in-mice
#17
Tatsunori Shimizu, Takehiro Sato, Katsushi Tsukiyama, Hiroki Fujita, Shunsuke Kato, Manabu Hoizumi, Hiromitsu Shirasawa, Takuma Narita, Yukihiro Terada, Yutaka Seino, Yuichiro Yamada
In addition to overeating, starvation also reduces fecundity in mammals. However, little is known about the molecular mechanisms linking food intake to fertility, especially in males. Gastric inhibitory polypeptide (GIP), which is released from intestinal K-cells after meal ingestion, stimulates insulin secretion from pancreatic β-cells through the action of incretin and has several extra-pancreatic effects. Here, we identified GIP receptor (Gipr) expression in mouse spermatids. Microarray analysis revealed that pregnancy-specific glycoprotein 17 (Psg17), a potential CD9-binding partner, was significantly decreased in GIP receptor-knockout (Gipr-/-) testes...
April 19, 2017: Endocrinology
https://www.readbyqxmd.com/read/28421619/molecular-detection-of-chlamydia-trachomatis-and-semen-quality-of-sexual-partners-of-infertile-women
#18
M López-Hurtado, M Velazco-Fernández, M J E Pedraza-Sánchez, V R Flores-Salazar, R Villagrana Zesati, F M Guerra-Infante
Chlamydia trachomatis is considered as the bacterium that is more sexually transmitted as cause of male urethritis, epididymitis, orchitis and infertility. A total of 116 semen samples of men whose couples are infertile women were analysed. The quality of the semen was measured by standard procedures recommended by WHO while C. trachomatis was detected by the PCR assay. Thirty-seven semen samples were positive for C. trachomatis (31.9%). Regarding semen analysis, no different values were observed between positive and negative samples to C...
April 19, 2017: Andrologia
https://www.readbyqxmd.com/read/28410128/genomics-tool-to-predict-and-prevent-male-infertility
#19
Ashutosh Halder, Prashant Kumar, Manish Jain, Amanpreet Kaur Kalsi
A large number of human diseases arise as a result of genetic abnormalities. With the advent of improved molecular biology techniques, the genetic etiology of male infertility is increasing. The common genetic factors responsible for male infertility are chromosomal abnormalities, Yq microdeletion and cystic fibrosis. These are responsible for approximately 30 percent cases of male infertility. About 40 percent cases of male infertility are categorized as idiopathic. These cases may be associated with genetic and genomic abnormalities...
June 1, 2017: Frontiers in Bioscience (Scholar Edition)
https://www.readbyqxmd.com/read/28410126/fertilization-failure-and-gamete-health-is-there-a-link
#20
Snehil Budhwar, Vertika Singh, Priyanka Verma, Kiran Singh
Fertilization is a hallmark event of sexual reproduction marked by the fusion of male and female gamete to form zygote. It is a highly complex, yet a robust process that is intricately regulated by various signalling molecules. A healthy fertilization is determined by the quality of zygote which is contingent on the health of egg and sperm. The relationship between infertility and gametic health can be reciprocal. On one hand gametogenesis has to be dynamic and unremitting to sustain the reproductive health, while on the other hand it has to be error free for proper embryonic development...
June 1, 2017: Frontiers in Bioscience (Scholar Edition)
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