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Imprinting disorders and art

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https://www.readbyqxmd.com/read/29775803/assisted-reproductive-technologies-and-imprinting-disorders-results-of-a-study-from-a-french-congenital-malformations-registry
#1
Audrey Uk, Sophie Collardeau-Frachon, Quentin Scanvion, Lucas Michon, Emmanuelle Amar
INTRODUCTION: Assisted Reproductive Technologies (ART) is increasingly used to help infertile couples to have children around the world. A number of studies have been published reporting an increased risk of major malformations in children born following ART, especially an increased incidence of epigenetic diseases (ED). This study aimed to assess the incidence of epigenetic diseases with affected imprinting genes in infants or children from pregnancies obtained through IVF/ICSI compared to infants or children from pregnancies obtained spontaneously...
May 15, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29696471/comprehensive-meta-analysis-reveals-association-between-multiple-imprinting-disorders-and-conception-by-assisted-reproductive-technology
#2
REVIEW
Victoria K Cortessis, Moosa Azadian, James Buxbaum, Fatimata Sanogo, Ashley Y Song, Intira Sriprasert, Pengxiao C Wei, Jing Yu, Karine Chung, Kimberly D Siegmund
PURPOSE: To determine whether a history of conception by assisted reproductive technology (ART) is associated with occurrence of one or more imprinting disorders of either maternal or paternal origin. METHODS: We implemented a systematic review of scholarly literature followed by comprehensive meta-analysis to quantitatively synthesize data from reports relating to use of ART to occurrence of any imprinting disorder of humans, including Beckwith-Wiedemann (BWS), Angelman (AS), Prader-Willi (PWS), and Silver-Russell (SRS) syndromes, as well as transient neonatal diabetes mellitus (TNDB) and sporadic retinoblasoma (RB)...
April 25, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29680508/-birth-weight-and-frozen-embryo-transfer-state-of-the-art
#3
M Anav, A Ferrières-Hoa, A Gala, A Fournier, S Zaragoza, E Vintejoux, C Vincens, S Hamamah
The aim of this study was to update our acknowledgment if there is a link between assisted embryo cryopreservation and epigenetics in human? Animal studies have demonstrated epigenetics consequence and especially imprinting disorders due to in vitro culture. In human, it is important to note that after frozen embryo transfer birth weight is significantly increased by 81 to 250g. But these studies cannot identify the reasons of such difference. This review strongly suggests that embryo cryopreservation is responsible for birth weight variations but mechanisms not yet elucidated...
April 18, 2018: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/29468661/molecular-and-clinical-studies-in-8-patients-with-temple-syndrome
#4
G Gillessen-Kaesbach, B Albrecht, T Eggermann, M Elbracht, D Mitter, S Morlot, C M A van Ravenswaaij-Arts, S Schulz, G Strobl-Wildemann, K Buiting, J Beygo
Temple syndrome (TS14, #616222) is a rare imprinting disorder characterised by phenotypic features including pre- and postnatal growth retardation, muscular hypotonia and feeding difficulties in infancy, early puberty and short stature with small hands and feet and often truncal obesity. It is caused by maternal uniparental disomies, paternal deletions and primary imprinting defects that affect the chromosomal region 14q32 and lead to a disturbed expression of imprinted genes in this region. Here, we present detailed clinical data of 8 patients with Temple syndrome, 4 with an imprinting defect, 2 with an imprinting defect in a mosaic state as well as 1 complete and 1 segmental maternal uniparental disomy of chromosome 14...
June 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29417303/pseudohypoparathyroidism-type-1b-in-a-patient-conceived-by-in-vitro-fertilization-another-imprinting-disorder-reported-with-assisted-reproductive-technology
#5
REVIEW
Nicholas J Goel, Laura L Meyers, Myrto Frangos
Pseudohypoparathyroidism type 1B (PHP1B) is characterized by renal tubular resistance to parathyroid hormone (PTH) leading to hyperphosphatemia, hypocalcemia, elevated PTH, and hyperparathyroid bone changes. PHP1B is an imprinting disorder that results from loss of methylation at the maternal GNAS gene, which suppresses transcription of the alpha subunit of the stimulatory G protein of the PTH receptor. Emerging evidence supports an association between assisted reproductive technologies (ART) and imprinting disorders; however, there is currently little evidence linking PHP1B and ART...
February 7, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29237055/the-epigenetic-control-of-transposable-elements-and-imprinted-genes-in-newborns-is-affected-by-the-mode-of-conception-art-versus-spontaneous-conception-without-underlying-infertility
#6
C Choux, C Binquet, V Carmignac, C Bruno, C Chapusot, J Barberet, M Lamotte, P Sagot, D Bourc'his, P Fauque
STUDY QUESTION: Do assisted reproductive technologies alter DNA methylation and/or transcription of transposable elements and imprinted genes in cord blood and placenta? SUMMARY ANSWER: After ART, DNA methylation and/or transcription changes of some transposable elements and imprinted genes were found in placenta samples while transcription modifications for some transposable elements were also discovered in cord blood. WHAT IS KNOWN ALREADY: Recent studies have confirmed the increased risk of placenta-related adverse pregnancy outcomes and the excess of imprinted disorders with abnormal methylation patterns after ART, which raises the issue of a potential ART-induced epigenetic risk...
December 11, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29136648/imprinting-alterations-in-sperm-may-not-significantly-influence-art-outcomes-and-imprinting-patterns-in-the-cord-blood-of-offspring
#7
Li Tang, Zichao Liu, Ruopeng Zhang, Cunmei Su, Wenjuan Yang, Youlin Yao, Shuhua Zhao
An increase in imprinting disorders in children conceived though assisted reproductive technologies (ARTs) has been the subject of several reports. The transmission of imprinting errors from the sperm of infertile fathers is believed to be a possible reason for the increased occurrence of these disorders. However, whether the imprinting alterations in sperm affect ART outcomes and the imprinting of offspring is unclear. In the current study, we analyzed the methylation of H19, SNRPN and KCNQ1OT1 by pyrosequencing sperm samples from 97 infertile patients and 31 proven fertile males as well as cord blood samples from 13 infantswho were conceived by infertile parents through intracytoplasmic sperm injection (ICSI) and 30 healthy newborns who were conceived naturally...
2017: PloS One
https://www.readbyqxmd.com/read/28902630/pseudohypoparathyroidism-type-1b-associated-with-assisted-reproductive-technology
#8
Monica Fernandez, Maria Jose Zambrano, Joel Riquelme, Claudia Castiglioni, Marie-Laure Kottler, Harald Jüppner, Veronica Mericq
Evidence suggests an increased incidence of imprinting disorders in children conceived by assisted reproductive technologies (ART). Maternal loss-of-methylation at GNAS exon A/B, observed in pseudohypoparathyroidism type 1b (PHP1B), leads to decreased expression of the stimulatory Gsα. We present a patient conceived by ART, who presented at age 4 years with delayed neurocognitive development and persistently increased creatine kinase (CK). At 6 years an elevated PTH was detected with normal calcium and a low 25(OH) vitamin D level (25OHD)...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28634246/assisted-reproductive-techniques-and-risk-of-beckwith-wiedemann-syndrome
#9
Alessandro Mussa, Cristina Molinatto, Flavia Cerrato, Orazio Palumbo, Massimo Carella, Giuseppina Baldassarre, Diana Carli, Clementina Peris, Andrea Riccio, Giovanni Battista Ferrero
BACKGROUND AND OBJECTIVES: The emerging association of assisted reproductive techniques (ART) with imprinting disorders represents a major issue in the scientific debate on infertility treatment and human procreation. We studied the prevalence of Beckwith-Wiedemann syndrome (BWS) in children conceived through ART to define the specific associated relative risk. METHODS: Patients with BWS born in Piemonte, Italy, were identified and matched with the general demographic data and corresponding regional ART registry...
July 2017: Pediatrics
https://www.readbyqxmd.com/read/28443481/impact-of-abnormal-dna-methylation-of-imprinted-loci-on-human-spontaneous-abortion
#10
Yudong Liu, Yan Tang, Desheng Ye, Weixu Ma, Shuxian Feng, Xuelan Li, Xingyu Zhou, Xin Chen, Shiling Chen
Currently, there is a growing concern regarding the safety of assisted reproductive technology (ART) due to increased risk of spontaneous abortion (SA) and imprinting disorders in ART-conceived offspring. Early investigations suggested that aberrant genetic imprinting may be related to pregnancy loss; however, few studies have used human tissue specimens. Here the DNA methylation patterns of 3 imprinted genes, including maternally inherited GRB10 and the paternally inherited IGF2 and PEG3 genes, were evaluated in human chorionic villus samples by pyrosequencing and bisulfite sequencing polymerase chain reaction...
January 2018: Reproductive Sciences
https://www.readbyqxmd.com/read/27813320/treatment-of-genetic-disorders-a-vision-coming-into-focus
#11
Lynne M Bird, Wen-Hann Tan
This issue of the Seminar Series is devoted to reviewing the state-of-the-art for treatment of non-metabolic genetic disorders. We begin with a primer on the design of studies in rare diseases. We then review a broad spectrum of disorders to reflect many different genetic mechanisms, including disorders stemming from a chromosomal basis as well as those due to single gene aberrations; those demonstrating principles of imprinting and mosaicism; and single organ as well as multisystem disorders. In doing so, a wide variety of treatment approaches are explained in this issue, including cell therapy, chromosome therapy, gene therapy, strategies for gene regulation with exon skipping and anti-sense oligonucleotides, stem cell modification and reintroduction, and use of genetic editing tools...
December 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27571894/compromised-oocyte-quality-and-assisted-reproduction-contribute-to-sex-specific-effects-on-offspring-outcomes-and-epigenetic-patterning
#12
Laura Whidden, Josée Martel, Sophia Rahimi, J Richard Chaillet, Donovan Chan, Jacquetta M Trasler
Clinical studies have revealed an increased incidence of growth and genomic imprinting disorders in children conceived using Assisted Reproductive Technologies (ART), and aberrant DNA methylation has been implicated. We propose that compromised oocyte quality associated with female infertility may make embryos more susceptible to the induction of epigenetic defects by ART. DNA methylation patterns in the preimplantation embryo are dependent on the oocyte-specific DNA methyltransferase 1o (DNMT1o), levels of which are decreased in mature oocytes of aging females...
August 29, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27330749/a-twin-sibling-with-prader-willi-syndrome-caused-by-type-2-microdeletion-following-assisted-reproductive-technology-a-case-report
#13
Ji Yoon Han, Joonhong Park, Woori Jang, Hyojin Chae, Myungshin Kim, Yonggoo Kim
Prader-Willi syndrome (PWS) is a neurobehavioral imprinting disorder, which arises due to an absence of paternally expressed genes within the 15q11.2-q13 region. This occurs via one of the three main genetic mechanisms, as follows: Deletion of the paternally inherited 15q11.2-q13 region, maternal uniparental disomy and imprinting defect. Recent studies have reported an association between imprinting disorders and assisted reproductive technologies (ART). The current study presents a 6-year-old female patient who is a dizygotic twin, in which one was born with de novo microdeletion at 15q11...
July 2016: Biomedical Reports
https://www.readbyqxmd.com/read/27195816/the-phenotypic-spectrum-of-schaaf-yang-syndrome-18-new-affected-individuals-from-14-families
#14
Michael D Fountain, Emmelien Aten, Megan T Cho, Jane Juusola, Magdalena A Walkiewicz, Joseph W Ray, Fan Xia, Yaping Yang, Brett H Graham, Carlos A Bacino, Lorraine Potocki, Arie van Haeringen, Claudia A L Ruivenkamp, Pedro Mancias, Hope Northrup, Mary K Kukolich, Marjan M Weiss, Conny M A van Ravenswaaij-Arts, Inge B Mathijssen, Sebastien Levesque, Naomi Meeks, Jill A Rosenfeld, Danielle Lemke, Ada Hamosh, Suzanne K Lewis, Simone Race, Laura L Stewart, Beverly Hay, Andrea M Lewis, Rita L Guerreiro, Jose T Bras, Marcia P Martins, Gerarda Derksen-Lubsen, Els Peeters, Connie Stumpel, Sander Stegmann, Levinus A Bok, Gijs W E Santen, Christian P Schaaf
PURPOSE: Truncating mutations in the maternally imprinted, paternally expressed gene MAGEL2, which is located in the Prader-Willi critical region 15q11-13, have recently been reported to cause Schaaf-Yang syndrome, a Prader-Willi-like disease that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties, and autism spectrum disorder. The causality of the reported variants in the context of the patients' phenotypes was questioned, as MAGEL2 whole-gene deletions seem to cause little or no clinical phenotype...
January 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/26626153/high-frequency-of-imprinted-methylation-errors-in-human-preimplantation-embryos
#15
Carlee R White, Michelle M Denomme, Francis R Tekpetey, Valter Feyles, Stephen G A Power, Mellissa R W Mann
Assisted reproductive technologies (ARTs) represent the best chance for infertile couples to conceive, although increased risks for morbidities exist, including imprinting disorders. This increased risk could arise from ARTs disrupting genomic imprints during gametogenesis or preimplantation. The few studies examining ART effects on genomic imprinting primarily assessed poor quality human embryos. Here, we examined day 3 and blastocyst stage, good to high quality, donated human embryos for imprinted SNRPN, KCNQ1OT1 and H19 methylation...
December 2, 2015: Scientific Reports
https://www.readbyqxmd.com/read/26458360/epigenetics-and-assisted-reproductive-technologies
#16
REVIEW
Anja Pinborg, Anne Loft, Liv B Romundstad, Ulla-Britt Wennerholm, Viveca Söderström-Anttila, Christina Bergh, Kristiina Aittomäki
Epigenetic modification controls gene activity without changes in the DNA sequence. The genome undergoes several phases of epigenetic programming during gametogenesis and early embryo development, coinciding with assisted reproductive technologies (ART) treatments. Imprinting disorders have been associated with ART techniques, but disentangling the influence of the ART procedures per se from the effect of the reproductive disease of the parents is a challenge. Epidemiological human studies have shown altered birthweight profiles in ART compared with spontaneously conceived singletons...
January 2016: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/26419002/-progress-in-research-on-imprinted-gene-associated-with-male-infertility
#17
REVIEW
Wenjing Wang, Ruixue Wang, Ruizhi Liu
The connection between male infertility and abnormal methylation of imprinted genes has attracted much attention. Some imprinted genes, e.g., H19, MEG3, MEST and SNRPN, are known to be related with male infertility. Abnormal imprinted information may influence sperm concentration, motility and morphology, but the mechanism is still unclear. Sperm genomic imprinting reconstruction and erase respectively occur at the time of spermatogenesis and before embryo transfer. Many studies have shown that the probability of imprinting disorder syndrome of offspring born through assisted reproductive technology (ART) was significantly higher, leading to the worry about the safety of ART and speculation that the operation and in vitro environment may affect sperm imprinted information, which in turn may lead to imprinting diseases in the offspring...
October 2015: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/26401051/the-cumulative-effect-of-assisted-reproduction-procedures-on-placental-development-and-epigenetic-perturbations-in-a-mouse-model
#18
Eric de Waal, Lisa A Vrooman, Erin Fischer, Teri Ord, Monica A Mainigi, Christos Coutifaris, Richard M Schultz, Marisa S Bartolomei
Assisted reproductive technologies (ART) are associated with several complications including low birth weight, abnormal placentation and increased risk for rare imprinting disorders. Indeed, experimental studies demonstrate ART procedures independent of existing infertility induce epigenetic perturbations in the embryo and extraembryonic tissues. To test the hypothesis that these epigenetic perturbations persist and result in adverse outcomes at term, we assessed placental morphology and methylation profiles in E18...
December 15, 2015: Human Molecular Genetics
https://www.readbyqxmd.com/read/26252109/-diseases-of-offspring-conceived-by-assisted-reproductive-technology-and-epigenetics
#19
REVIEW
Hongfeng Huang, Xuan Chen, Xiaoyu Yang, Yanfang Huang
The number of offspring conceived by assisted reproductive technology (ART) has reached over 5 million. As the primary means for treating infertility, the health of offspring produced by ART has been a long concern. Both procedures of ART and factors underlying infertility can lead to epigenetic changes which can cause certain diseases. This paper has reviewed diseases noted among offspring conceived by ART, which include imprinting disorders, metabolic syndromes and cancers. We also tried to explore the pathogenesis of such diseases from an epigenetic perspective, which may help with evaluation the influence of ART on the offspring and its safety for application...
August 2015: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/25438931/health-and-disease-in-children-born-after-assistive-reproductive-therapies-art
#20
REVIEW
Mariyum Hyrapetian, Eva M Loucaides, Alastair G Sutcliffe
In vitro fertilisation (IVF) and other assisted reproductive therapies (ART) offer hope to subfertile couples worldwide. At least 5 million ART children have been born to date. Their health is an issue that is increasingly relevant: first, to those children and young adults themselves; second, to couples considering fertility treatment; and third, to the general population as ART has progressed from experimental treatment to routine practice. Many concerns about the potential risks to these children have been voiced with varying degrees of supportive evidence...
December 2014: Journal of Reproductive Immunology
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