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infertility next generation sequencing

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https://www.readbyqxmd.com/read/27603904/identification-of-multiple-gene-mutations-accounts-for-a-new-genetic-architecture-of-primary-ovarian-insufficiency
#1
Justine Bouilly, Isabelle Beau, Sara Barraud, Valérie Bernard, Kemal Azibi, Jérôme Fagart, Anne Fèvre, Anne Laure Todeschini, Reiner A Veitia, Chérif Beldjord, Brigitte Delemer, Catherine Dodé, Jacques Young, Nadine Binart
CONTEXT: Idiopathic primary ovarian insufficiency (POI) is a major cause of amenorrhea and infertility. POI affects 1% of women before age 40, and several genetic causes have been reported. To date, POI has been considered a monogenic disorder. OBJECTIVE: The aim of this study was to identify novel gene variations and to investigate if individuals with POI harbor mutation in multiple loci. PATIENTS AND METHODS: One hundred well-phenotyped POI patients were systematically screened for variants in 19 known POI loci (and potential candidate genes) using next-generation sequencing...
September 7, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27580129/age-dependent-changes-in-inflammation-and-extracellular-matrix-in-bovine-oviduct-epithelial-cells-during-the-post-ovulatory-phase
#2
Hazuki Tanaka, Ayaka Ohtsu, Shogo Shiratsuki, Ryoka Kawahara-Miki, Hisataka Iwata, Takehito Kuwayama, Koumei Shirasuna
The mammalian oviduct is an essential site for sperm storage, the transport of gametes, fertilization, and embryo development-functions that are aided by cytokines secreted from oviduct epithelial cells (OECs). Aging leads to cellular and organ dysfunction, with infertility associated with advanced maternal age. Few studies have investigated age-dependent changes in the oviduct as a possible cause of infertility, so we compared OECs from young (30-50 months) versus aged (more than 120 months) cattle. Next-generation sequencing was first used to identify age-related differences in gene expression...
September 2016: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/27554115/mutations-in-the-polyglutamylase-gene-ttll5-expressed-in-photoreceptor-cells-and-spermatozoa-are-associated-with-cone-rod-degeneration-and-reduced-male-fertility
#3
Nicola Bedoni, Lonneke Haer-Wigman, Veronika Vaclavik, Hoai Viet Tran, Pietro Farinelli, Sara Balzano, Beryl Royer-Bertrand, Mohammed E El-Asrag, Olivier Bonny, Christos Ikonomidis, Yan Litzistorf, Konstantinos Nikopoulos, Georgia Yioti, Maria Stefaniotou, Martin McKibbin, Jamie Ellingford, Adam P Booth, Graeme Black, Carmel Toomes, Chris F Inglehearn, Carel B Hoyng, Nathalie Bax, Caroline C W Klaver, Alberta A Thiadens, Fabien Murisier, Daniel F Schorderet, Manir Ali, Frans P M Cremers, Sten Andréasson, Francis L Munier, Carlo Rivolta
Hereditary retinal degenerations encompass a group of genetic diseases characterized by extreme clinical variability. Following next-generation sequencing and autozygome-based screening of patients presenting with a peculiar, recessive form of cone-dominated retinopathy, we identified five homozygous variants [p.(Asp594fs), p.(Gln117*), p.(Met712fs), p.(Ile756Phe), and p.(Glu543Lys)] in the polyglutamylase-encoding gene TTLL5, in eight patients from six families. The two male patients carrying truncating TTLL5 variants also suffered from a substantial reduction in sperm motility and infertility, whereas those carrying missense changes were fertile...
August 22, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27491356/clinical-application-of-whole-genome-low-coverage-next-generation-sequencing-to-detect-and-characterize-balanced-chromosomal-translocations
#4
D Liang, Y Wang, X Ji, H Hu, J Zhang, L Meng, Y Lin, D Ma, T Jiang, H Jiang, Asan, L Song, J Guo, P Hu, Z Xu
Individuals carrying balanced translocations have a high risk of birth defects, recurrent spontaneous abortions and infertility. Thus, the detection and characterization of balanced translocations is important to reveal the genetic background of the carriers and to provide proper genetic counseling. Next-generation sequencing (NGS), which has great advantages over other methods such as karyotyping and fluorescence in situ hybridization (FISH), has been used to detect disease-associated breakpoints. Herein, to evaluate the application of this technology to detect balanced translocations in the clinic, we performed a parental study for prenatal cases with unbalanced translocations...
August 5, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27167073/clinical-application-of-next-generation-sequencing-in-preimplantation-genetic-diagnosis-cycles-for-robertsonian-and-reciprocal-translocations
#5
Wenke Zhang, Ying Liu, Li Wang, Hui Wang, Minyue Ma, Mengnan Xu, Xiaofei Xu, ZhiYing Gao, Jinliang Duan, David S Cram, Yuanqing Yao
PURPOSE: The purpose of this study was to apply next-generation sequencing (NGS) technology to identify chromosomally normal embryos for transfer in preimplantation genetic diagnosis (PGD) cycles for translocations. METHODS: A total of 21 translocation couples with a history of infertility and repeated miscarriage presented at our PGD clinic for 24-chromosome embryo testing using copy number variation sequencing (CNV-Seq). RESULTS: Testing of 98 embryo samples identified 68 aneuploid (69...
July 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27164286/-first-in-the-world-application-of-next-generation-sequencing-in-preimplantation-genetic-diagnostics-in-clinical-practice-a-case-report
#6
Krzysztof Łukaszuk, Agnieszka Kuczyńska, Sebastian Pukszta, Paweł Kuć, Waldemar Kuczyński, Jakub Łukaszuk, Joanna Liss, Izabela Wocławek-Potocka
Preimplantation genetic diagnosis (PGD) is a well established method for detecting genetic abnormalities during the course of infertility treatment, resulting in thousands of healthy newborns delivered worldwide. PGD with next generation sequencing (NGS) provides new possibilities for diagnosis and new parameters for evaluation. The use of next-generation DNA sequencing technique has lead to great progress in the human genome analysis. The aim of this study was molecular analysis using next generation sequencing technique of embryos from a couple suffering from recurrent pregnancy losses...
2016: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/27135758/a-novel-mutation-in-steroidogenic-factor-sf1-nr5a1-gene-in-a-patient-with-46-xy-dsd-without-adrenal-insufficiency
#7
H Tuhan, A Anik, G Catli, H Onay, A Aykut, A Abaci, E Bober
Steroidogenic factor-1 (SF-1), also known as nuclear receptor subfamily 5 group A member 1 (NR5A1), is a member of orphan receptor subfamily and located on chromosome 9 (9q33). In 46, XY individuals with mutation of SF-1 gene, adrenal failure, testis dysgenesis, androgen synthesis defects, hypospadias and anorchia with microphallus, infertility can occur from severe to mild. We report a case of a 20-day-old male who is admitted to our clinic due to ambiguous genitalia. In this report, we describe a novel heterozygous c...
May 2, 2016: Andrologia
https://www.readbyqxmd.com/read/27094479/patients-with-multiple-morphological-abnormalities-of-the-sperm-flagella-due-to-dnah1-mutations-have-a-good-prognosis-following-intracytoplasmic-sperm-injection
#8
Clémentine Wambergue, Raoudha Zouari, Selima Fourati Ben Mustapha, Guillaume Martinez, Françoise Devillard, Sylviane Hennebicq, Véronique Satre, Sophie Brouillet, Lazhar Halouani, Ouafi Marrakchi, Mounir Makni, Habib Latrous, Mahmoud Kharouf, Florence Amblard, Christophe Arnoult, Pierre F Ray, Charles Coutton
STUDY QUESTION: Does DNAH1 status influence intracytoplasmic sperm injection (ICSI) outcomes for patients with multiple morphological abnormalities of the sperm flagella (MMAF)? SUMMARY ANSWER: Despite a highly abnormal morphology, sperm from MMAF patients with DNAH1 mutations have a low aneuploidy rate and good nuclear quality, leading to good embryonic development following ICSI and a high pregnancy rate. WHAT IS KNOWN ALREADY: Teratozoospermia represents a heterogeneous group including a wide range of phenotypes...
June 2016: Human Reproduction
https://www.readbyqxmd.com/read/26911429/next-generation-sequencing-based-comprehensive-chromosome-screening-in-mouse-polar-bodies-oocytes-and-embryos
#9
Nathan R Treff, Rebecca L Krisher, Xin Tao, Heather Garnsey, Chelsea Bohrer, Elena Silva, Jessica Landis, Deanne Taylor, Richard T Scott, Teresa K Woodruff, Francesca E Duncan
Advanced reproductive age is unequivocally associated with increased aneuploidy in human oocytes, which contributes to infertility, miscarriages, and birth defects. The frequency of meiotic chromosome segregation errors in oocytes derived from reproductively aged mice appears to be similar to that observed in humans, but a limitation of this important model system is our inability to accurately identify chromosome-specific aneuploidy. Here we report the validation and application of a new low-pass whole-genome sequencing approach to comprehensively screen chromosome aneuploidy in individual mouse oocytes and blastocysts...
April 2016: Biology of Reproduction
https://www.readbyqxmd.com/read/26828676/expression-profile-of-micrornas-and-their-targeted-pathways-in-human-ovaries-detected-by-next-generation-small-rna-sequencing
#10
Bo Xu, Yuan-Wei Zhang, Sheng-Xia Zheng, Xian-Hong Tong, Yu-Sheng Liu
Recently, post-transcriptional gene regulation by microRNAs (miRNAs) has been reported to play a key role during ovary development and differentiation. However, there are no published studies identifying miRNA profiles of human ovarian tissues directly using next-generation sequencing technology. In the human ovary, a total of 762 known and 21 novel human miRNAs were detected, indicating that human ovaries have a complex population of small RNAs. To confirm the miRNA profile in human ovaries, quantitative real-time polymerase chain reaction was used to validate the expression of known miRNAs and novel miRNAs...
May 2016: DNA and Cell Biology
https://www.readbyqxmd.com/read/26697376/assessment-of-microrna-expression-in-mouse-epididymal-epithelial-cells-and-spermatozoa-by-next-generation-sequencing
#11
Amanda L Anderson, Simone J Stanger, Bettina P Mihalas, Sonika Tyagi, Janet E Holt, Eileen A McLaughlin, Brett Nixon
The mammalian epididymis is a highly specialized region of the male reproductive tract that is lined with a continuous layer of epithelial cells that display a remarkable level of regionalized secretory and absorptive activity. The luminal environment created by this combined secretory and absorptive activity is directly responsible for promoting the functional maturation of spermatozoa and their maintenance in a quiescent and viable state prior to ejaculation. This study was designed to identify the complement of microRNAs (miRNAs) that are expressed within the mouse epididymal epithelial cells and the maturing populations of spermatozoa...
December 2015: Genomics Data
https://www.readbyqxmd.com/read/26495179/healthy-baby-born-to-a-robertsonian-translocation-carrier-following-next-generation-sequencing-based-preimplantation-genetic-diagnosis-a-case-report
#12
Krzysztof Lukaszuk, Sebastian Pukszta, Karolina Ochman, Celina Cybulska, Joanna Liss, Ewa Pastuszek, Judyta Zabielska, Izabela Woclawek-Potocka
Preimplantation genetic diagnosis (PGD) is well established method for treatment of genetic problems associated with infertility. Moreover, PGD with next-generation sequencing (NGS) provide new possibilities for diagnosis and new parameters for evaluation in, for example, aneuploidy screening. The aim of the study was to report the successful pregnancy outcome following PGD with NGS as the method for 24 chromosome aneuploidy screening in the case of Robertsonian translocation. Day 3 embryos screening for chromosomal aneuploidy was performed in two consecutive in vitro fertilization (IVF) cycles, first with fluorescent in situ hybridization (FISH), and then with NGS-based protocol...
October 2015: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/26447148/genetics-of-male-infertility-from-research-to-clinic
#13
REVIEW
Csilla Krausz, Antoni Riera Escamilla, Chiara Chianese
Male infertility is a multifactorial complex disease with highly heterogeneous phenotypic representation and in at least 15% of cases, this condition is related to known genetic disorders, including both chromosomal and single-gene alterations. In about 40% of primary testicular failure, the etiology remains unknown and a portion of them is likely to be caused by not yet identified genetic anomalies. During the last 10 years, the search for 'hidden' genetic factors was largely unsuccessful in identifying recurrent genetic factors with potential clinical application...
November 2015: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/26445561/the-genetics-of-premature-ovarian-failure-current-perspectives
#14
REVIEW
Chevy Chapman, Lynsey Cree, Andrew N Shelling
Premature ovarian failure (POF) is a common cause of infertility in women, characterized by amenorrhea, hypoestrogenism, and elevated gonadotropin levels in women under the age of 40. Many genes have been identified over the past few years that contribute to the development of POF. However, few genes have been identified that can explain a substantial proportion of cases of POF. The unbiased approaches of genome-wide association studies and next-generation sequencing technologies have identified several novel genes implicated in POF...
2015: International Journal of Women's Health
https://www.readbyqxmd.com/read/26354092/comprehensive-carrier-genetic-test-using-next-generation-deoxyribonucleic-acid-sequencing-in-infertile-couples-wishing-to-conceive-through-assisted-reproductive-technology
#15
Julio Martin, Asan, Yuting Yi, Trinidad Alberola, Beatriz Rodríguez-Iglesias, Jorge Jiménez-Almazán, Qin Li, Huiqian Du, Pilar Alama, Amparo Ruiz, Ernesto Bosch, Nicolas Garrido, Carlos Simon
OBJECTIVE: To develop an expanded pan-ethnic preconception carrier genetic screening test for use in assisted reproductive technology (ART) patients and donors. DESIGN: Retrospective analysis of results obtained from 2,570 analyses. SETTING: Reproductive genetic laboratory. PATIENT(S): The 2,570 samples comprised 1,170 individuals from the gamete donor programs; 1,124 individuals corresponding to the partner of the patient receiving the donated gamete; and 276 individuals from 138 couples seeking ART using their own gametes...
November 2015: Fertility and Sterility
https://www.readbyqxmd.com/read/26347751/de-novo-assembly-of-the-japanese-lawngrass-zoysia-japonica-steud-root-transcriptome-and-identification-of-candidate-unigenes-related-to-early-responses-under-salt-stress
#16
Qi Xie, Jun Niu, Xilin Xu, Lixin Xu, Yinbing Zhang, Bo Fan, Xiaohong Liang, Lijuan Zhang, Shuxia Yin, Liebao Han
Japanese lawngrass (Zoysia japonica Steud.) is an important warm-season turfgrass that is able to survive in a range of soils, from infertile sands to clays, and to grow well under saline conditions. However, little is known about the molecular mechanisms involved in its resistance to salt stress. Here, we used high-throughput RNA sequencing (RNA-seq) to investigate the changes in gene expression of Zoysia grass at high NaCl concentrations. We first constructed two sequencing libraries, including control and NaCl-treated samples, and sequenced them using the Illumina HiSeq™ 2000 platform...
2015: Frontiers in Plant Science
https://www.readbyqxmd.com/read/26231857/a-genome-wide-association-study-of-mitochondrial-dna-in-chinese-men-identifies-two-risk-single-nucleotide-substitutions-for-idiopathic-oligoasthenospermia
#17
Chuncheng Lu, Miaofei Xu, Rong Wang, Yufeng Qin, Jing Ren, Wei Wu, Ling Song, Shoulin Wang, Zuomin Zhou, Hongbing Shen, Jiahao Sha, Zhibin Hu, Yankai Xia, Dengshun Miao, Xinru Wang
Mitochondrial DNA (mtDNA) is believed to be both the source and target of reactive oxygen species (ROS), and mtDNA genetic alterations have been reported to be associated with molecular defects in the oxidative phosphorylation (OXPHOS) system. In order to investigate the potentially susceptible mtDNA genetic variants to oligoasthenospermia, we conducted a two-stage study in 921 idiopathic infertile men with oligoasthenospermia and 766 healthy controls using comprehensive molecular analysis. In the screen stage, we used next generation sequencing (NGS) in 233 cases and 233 controls to screen oligoasthenospermia susceptible mitochondrial genetic variants...
September 2015: Mitochondrion
https://www.readbyqxmd.com/read/26157032/absence-of-sperm-rna-elements-correlates-with-idiopathic-male-infertility
#18
Meritxell Jodar, Edward Sendler, Sergey I Moskovtsev, Clifford L Librach, Robert Goodrich, Sonja Swanson, Russ Hauser, Michael P Diamond, Stephen A Krawetz
Semen parameters are typically used to diagnose male infertility and specify clinical interventions. In idiopathic infertile couples, an unknown male factor could be the cause of infertility even when the semen parameters are normal. Next-generation sequencing of spermatozoal RNAs can provide an objective measure of the paternal contribution and may help guide the care of these couples. We assessed spermatozoal RNAs from 96 couples presenting with idiopathic infertility and identified the final reproductive outcome and sperm RNA elements (SREs) reflective of fecundity status...
July 8, 2015: Science Translational Medicine
https://www.readbyqxmd.com/read/25960166/aetiological-coding-sequence-variants-in-non-syndromic-premature-ovarian-failure-from-genetic-linkage-analysis-to-next-generation-sequencing
#19
REVIEW
Paul Laissue
Premature ovarian failure (POF) is a frequent pathology affecting 1-1.5% of women under 40 years old. Despite advances in diagnosing and treating human infertility, POF is still classified as being idiopathic in 50-80% of cases, strongly suggesting a genetic origin for the disease. Different types of autosomal and X-linked genetic anomalies can originate the phenotype in syndromic and non-syndromic POF cases. Particular interest has been focused on research into non-syndromic POF causative coding variants during the past two decades...
August 15, 2015: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/25941819/molecular-genetics-of-polycystic-ovary-syndrome-an-update
#20
REVIEW
L Li, K-H Baek
Polycystic ovary syndrome (PCOS) is a complex genetic disorder caused by interplay between several 'susceptibility' genes and environment factors. In the past few years, numerous studies of genomics and transcriptomics attempted to discover genes affecting PCOS. Pre-genome wide association study (GWAS) plays a stepping stone effect on the progress of PCOS, even though most of the strongest associations are for loci rather than functional variants. A trend towards large-scale GWAS has succeeded in identifying many additional novel PCOS loci...
2015: Current Molecular Medicine
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