☆ 4.3 Article

Association of extremely skewed X-chromosome inactivation with Taiwanese women presenting with recurrent pregnancy loss

JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION (2008)

期刊

JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION

卷 107, 期 4, 页码 340-343

出版社

ELSEVIER SINGAPORE PTE LTD

DOI: 10.1016/S0929-6646(08)60096-0

关键词

human androgen receptor; recurrent pregnancy loss; skewed X-chromosome inactivation

类别

Medicine, General & Internal

向作者/读者索取更多资源

Protocol

Reagent

摘要

X-chromosome inactivation (XCI) is a phenomenon that occurs in female mammals. Typically, maternally-and paternally-derived X chromosomes are inactivated at approximately the same frequency. If preferential inactivation occurs, the person is considered to have skewed XCI. Skewed XCI has been reported to occur more frequently in women who experience recurrent pregnancy loss (RPL). In this study, we sought to investigate if there is an association between skewed XCI and unexplained RPL in Taiwanese women. A total of 194 women who had experienced unexplained RPL were recruited into the study. Human androgen receptor or DXS6673E and DX15-134 loci were used in the XCI assay. The results of our study suggested that a cut-off point < 90% may not be justified for skewed XCI. Only extremely skewed (> 95%) XCI is associated with RPL. Extremely skewed XCI occurs in a subset of Taiwanese women with RPL.

作者

我是这篇论文的作者

点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.3

评分不足

次要评分

新颖性

-

重要性

-

科学严谨性

-

评价这篇论文

推荐

Article Obstetrics & Gynecology

Investigation of the role of X chromosome inactivation and androgen receptor CAG repeat polymorphisms in patients with recurrent pregnancy loss: a prospective case-control study

Yilun Sui, Jing Fu, Shuo Zhang, Lu Li, Xiaoxi Sun

Summary: Previous research has shown that skewed X chromosome inactivation (SXCI) and androgen receptor (AR) CAG polymorphisms are associated with increased risk of recurrent pregnancy loss (RPL). However, the results are conflicting and the underlying mechanisms remain unclear. This study found that SXCI and AR CAG polymorphisms are related to RPL, but these factors do not lead to RPL by affecting ovarian reserve or increasing embryo aneuploidy.

BMC PREGNANCY AND CHILDBIRTH (2022)

添加到收藏夹

Article Biology

Age acquired skewed X chromosome inactivation is associated with adverse health outcomes in humans

Amy L. Roberts, Alessandro Morea, Ariella Amar, Antonino Zito, Julia S. El-Sayed Moustafa, Max Tomlinson, Ruth C. E. Bowyer, Xinyuan Zhang, Colette Christiansen, Ricardo Costeira, Claire J. Steves, Massimo Mangino, Jordana T. Bell, Chloe C. Y. Wong, Timothy J. Vyse, Kerrin S. Small, Carlos Isales

Summary: Our study demonstrates that age acquired XCI-skew captures changes to the haematopoietic stem cell population and has clinical potential as a unique biomarker of chronic disease risk.

ELIFE (2022)

添加到收藏夹

Article Neurosciences

Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants

Luiza D. Chaves, Laura M. L. Carvalho, Giovanna C. Tolezano, Sara F. Pires, Silvia S. Costa, Marilia de O. Scliar, Liane de R. Giuliani, Debora R. Bertola, Cintia B. Santos-Reboucas, Go Hun Seo, Paulo A. Otto, Carla Rosenberg, Angela M. Vianna-Morgante, Ana C. V. Krepischi

Summary: Intellectual disability (ID) is a cognitive and behavioral impairment that affects approximately 1% of the population worldwide. Extreme skewing of X-chromosome inactivation (XCI) is associated with ID phenotypes caused by pathogenic variants in the X chromosome. This study confirms that extreme XCI skewing in females with ID is highly indicative of causative X-linked pathogenic variants and suggests the possibility of identifying causative variants in autosomal genes with a XCI role.

MOLECULAR NEUROBIOLOGY (2023)

添加到收藏夹

Article Genetics & Heredity

Case Report: De novo DDX3X mutation caused intellectual disability in a female with skewed X-chromosome inactivation on the mutant allele

Yixi Sun, Yangwen Qian, Hai-Xi Sun, Min Chen, Yuqin Luo, Xiaojing Xu, Kai Yan, Liya Wang, Junjie Hu, Minyue Dong

Summary: In females with DDX3X-related intellectual disability, extreme skewing of XCI in the mutant allele was found, which was insufficient to reverse the phenotype of neurodevelopmental disorders related to DDX3X defects.

FRONTIERS IN GENETICS (2022)

添加到收藏夹

Article Multidisciplinary Sciences

Monosomy X in isogenic human iPSC-derived trophoblast model impacts expression modules preserved in human placenta

Darcy T. Ahern, Prakhar Bansal, Maria K. Armillei, Isaac V. Faustino, Yuvabharath Kondaveeti, Heather R. Glatt-Deeley, Erin C. Banda, Stefan F. Pinter

Summary: This study investigates the impact of monosomy X on syncytiotrophoblast development in humans using X-monosomic human induced pluripotent stem cells (hiPSCs). The results suggest that monosomy X may alter the levels of placental genes and secretion of placental growth factor (PlGF) and human chorionic gonadotropin (hCG). The findings also demonstrate that the corresponding gene coexpression network modules are preserved in chorionic villi and term placenta.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2022)

添加到收藏夹

Article Medicine, General & Internal

A Genetic Association Test Accounting for Skewed X-Inactivation With Application to Biotherapy Immunogenicity in Patients With Autoimmune Diseases

Signe Haessler, Sophie Camilleri-Broet, Matthieu Allez, Florian Deisenhammer, Anna Fogdell-Hahn, Xavier Mariette, Marc Pallardy, Philippe Broet

Summary: This study proposes a novel test statistic for selecting loci of interest harbored by the X chromosome that are associated with time-to-event data taking into account skewed X-inactivation (XCI-S). Results show that this test provides higher power gains than existing methods and can identify X chromosome susceptibility loci for drug immunogenicity in patients with autoimmune diseases.

FRONTIERS IN MEDICINE (2022)

添加到收藏夹

Review Cell & Tissue Engineering

The consequences of recurrent genetic and epigenetic variants in human pluripotent stem cells

Peter W. Andrews, Ivana Barbaric, Nissim Benvenisty, Jonathan S. Draper, Tenneille Ludwig, Florian T. Merkle, Yoji Sato, Claudia Spits, Glyn N. Stacey, Haoyi Wang, Martin F. Pera

Summary: This study summarizes the genetic and epigenetic changes that human pluripotent stem cells (hPSCs) can acquire during in vitro culture, as well as the methods for detecting these changes and their effects on cell behavior. The study argues that the potential consequences of low-level contamination of cell therapy products with cells bearing oncogenic variants are currently unknown, and highlights the challenges in safety assessment of hPSC-derived cellular therapeutics.

CELL STEM CELL (2022)

添加到收藏夹

Article Cell & Tissue Engineering

Stem-cell-derived trophoblast organoids model human placental development and susceptibility to emerging pathogens

Rowan M. Karvas, Shafqat A. Khan, Sonam Verma, Yan Yin, Devesha Kulkarni, Chen Dong, Kyoung-mi Park, Brian Chew, Eshan Shane, Laura A. Fischer, Deepak Kumar, Liang Ma, Adrianus C. M. Boon, Sabine Dietmann, Indira U. Mysorekar, Thorold W. Theunissen

Summary: This study reports the formation of 3D trophoblast organoids derived from naive human pluripotent stem cells. These organoids exhibit a villous architecture similar to primary trophoblast organoids and display distinct trophoblast cell types. Importantly, they also show selective vulnerability to emerging pathogens such as SARS-CoV-2 and Zika virus. This research provides an accessible model system for studying placental development and its susceptibility to emerging pathogens.

CELL STEM CELL (2022)

添加到收藏夹

Article Biochemistry & Molecular Biology

Molecular Mechanisms of Skewed X-Chromosome Inactivation in Female Hemophilia Patients-Lessons from Wide Genome Analyses

Rima Dardik, Einat Avishai, Shadan Lalezari, Assaf A. Barg, Sarina Levy-Mendelovich, Ivan Budnik, Ortal Barel, Yulia Khavkin, Gili Kenet, Tami Livnat

Summary: The study found that HA carriers with normal karyotypes but presenting with moderate to severe HA phenotype due to skewed XCI carried pathogenic mutations on their non-hemophilic X chromosomes, indicating that negative selection against cells with an additional deleterious mutation on the silenced X chromosome may complicate the phenotype of monogenic X-linked diseases.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

添加到收藏夹

Article Multidisciplinary Sciences

A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome

Francisco Bustos, Carmen Espejo-Serrano, Anna Segarra-Fas, Rachel Toth, Alison J. Eaton, Kristin D. Kernohan, Meredith J. Wilson, Lisa G. Riley, Greg M. Findlay

Summary: TOKAS is an X-linked intellectual disability syndrome caused by variants in the gene encoding RLIM. A novel missense variant in RLIM disrupts protein expression and function, leading to a severe form of the syndrome. This variant impairs E3 ubiquitin ligase activity and disrupts X-chromosome inactivation.

SCIENTIFIC REPORTS (2021)

添加到收藏夹

Article Multidisciplinary Sciences

Aneuploidy effects on human gene expression across three cell types

Siyuan Liu, Nirmala Akula, Paul K. Reardon, Jill Russ, Erin Torres, Liv S. Clasen, Jonathan Blumenthal, Francois Lalonde, Francis J. McMahon, Francis Szele, Christine M. Disteche, M. Zameel Cader, Armin Raznahan

Summary: This study investigates the effects of X, Y, and 21 aneuploidies on gene expression in lymphoblastoid cell lines, fibroblasts, and iPSC-derived neuronal cells. It confirms theoretical models of sex chromosome dosages sensitivity and identifies a set of 41 genes that show obligate dosage sensitivity. The study finds that cis effects of sex chromosome dosages are preserved in different cell types, while trans effects are mostly not preserved.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2023)

添加到收藏夹

Review Pharmacology & Pharmacy

Sex chromosome complement and sex steroid signaling underlie sex differences in immunity to respiratory virus infection

Reegan A. J. Miller, Abigael P. Williams, Susan Kovats

Summary: Epidemiological studies have shown sex differences in the incidence and morbidity of respiratory virus infections, which may be related to differences in the immune response. Animal models also exhibit sex differences in immunity and morbidity, suggesting variations in specific immune mechanisms. Recent research has revealed intrinsic sex differences in immune cell transcriptomes, epigenomes, and proteomes, which may regulate human immunity during viral infections. Understanding the role of sex steroids, X chromosome complement, and immune cell regulation can help explain the significant sex differences in immunity to respiratory pathogens.

FRONTIERS IN PHARMACOLOGY (2023)

添加到收藏夹

Article Biochemistry & Molecular Biology

Nanosheet coating improves stability of human pluripotent stem cell culture on glass substrates

Yuka Sakata, Hong Zhang, Akiko Sugiyama, Nami Motosugi, Hiroshi Kimura, Yosuke Okamura, Atsushi Fukuda

Summary: High-resolution imaging analysis is essential for studying cell functions, but culturing cells on glass substrates often leads to cell instability. In this study, we coated the glass substrate with a nanosheet composed of hydrophobic polystyrene and Matrigel, which significantly improved the viability of human pluripotent stem cells (hPSCs). The nanosheet coating did not affect the transcriptome status of hPSC and allowed for high-resolution imaging assay. Our findings demonstrate that the nanosheet coating is beneficial for sensitive cells cultured on glass substrates.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2023)

添加到收藏夹

Article Biology

Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations

Muhammad Usman, Christoph Jueschke, Fei Song, Dennis Kastrati, Marta Owczarek-Lipska, Jannis Eilers, Laurenz Pauleikhoff, Clemens Lange, John Neidhardt

Summary: Mutations in the RPGR gene lead to retinitis pigmentosa, predominantly affecting male carriers. This study found that X-chromosomal inactivation patterns might play a role in determining the disease manifestation in female carriers.

LIFE SCIENCE ALLIANCE (2023)

添加到收藏夹

Article Pediatrics

Case Report: Wiskott-Aldrich Syndrome Caused by Extremely Skewed X-Chromosome Inactivation in a Chinese Girl

Xuening Hou, Jie Sun, Chen Liu, Jihong Hao

Summary: Wiskott-Aldrich syndrome is a rare X-linked immunodeficiency disorder characterized by microthrombocytopenia, eczema, and high risk of recurrent infections. The study describes a Chinese girl with WAS presenting persistent thrombocytopenia and abnormal X-chromosome inactivation pattern.

FRONTIERS IN PEDIATRICS (2021)

添加到收藏夹

Article Environmental Sciences

Reactive Oxygen Species Mediate Terbufos-Induced Apoptosis in Mouse Testicular Cell Lines via the Modulation of Cell Cycle and Pro-Apoptotic Proteins

Jui-Hsiang Hung, Chia-Yun Chen, Hany A. Omar, Kuo-Yuan Huang, Che-Chia Tsao, Chien-Chih Chiu, Yi-Ling Chen, Po-Han Chen, Yen-Ni Teng

ENVIRONMENTAL TOXICOLOGY (2016)

添加到收藏夹

Article Pharmacology & Pharmacy

6-Shogaol Induces cell cycle arrest and apoptosis in human hepatoma cells through pleiotropic mechanisms

Jung-Ju Wu, Hany A. Omar, Ying-Ray Lee, Yen-Ni Teng, Pin-Shern Chen, Yu-Chung Chen, Hsiao-Shan Huang, Kuan-Han Lee, Jui-Hsiang Hung

EUROPEAN JOURNAL OF PHARMACOLOGY (2015)

添加到收藏夹

Article Integrative & Complementary Medicine

Inhibitory effect of trans-ferulic acid on proliferation and migration of human lung cancer cells accompanied with increased endogenous reactive oxygen species and β-catenin instability

Yao Fong, Chia-Chun Tang, Huei-Ting Hu, Hsin-Yu Fang, Bing-Hung Chen, Chang-Yi Wu, Shyng-Shiou Yuan, Hui-Min David Wang, Yen-Chun Chen, Yen-Ni Teng, Chien-Chih Chiu

CHINESE MEDICINE (2016)

添加到收藏夹

Article Medicine, Research & Experimental

Correlation between leucine rich domain and the stability of LRWD1 protein in human NT2/D1 cells

Yung-Chieh Tsai, Yen-Ni Teng, Jui-Hsiang Hung, Chien-Hsing Wu, Yu-Ting Kuo, Pao-Lin Kuo, Chien-Chih Chiu, Bin Huang

ADVANCES IN MEDICAL SCIENCES (2014)

添加到收藏夹

Article Environmental Sciences

The Adverse Effects of Low-dose Exposure to Di(2-ethylhexyl) phthalate During Adolescence on Sperm Function in Adult Rats

Ping-Chi Hsu, Ya-Ting Kuo, Yueliang Leon Guo, Jenq-Renn Chen, Shinn-Shyong Tsai, How-Ran Chao, Yen-Ni Teng, Min-Hsiung Pan

ENVIRONMENTAL TOXICOLOGY (2016)

添加到收藏夹

Article Obstetrics & Gynecology

CDC25 protein expression and interaction with DAZL in human corpus luteum

Hsien-An Pan, Yeu-Chin Lee, Yen-Ni Teng, Show-Jeng Tsai, Yung-Ming Lin, Pao-Lin Kuo

FERTILITY AND STERILITY (2009)

添加到收藏夹

Editorial Material Obstetrics & Gynecology

Histone gene expression profile during spermatogenesis

Yen-Ni Teng, Pao-Lin Kuo, Tung-Chia Cheng, Ming-Hui Liao

FERTILITY AND STERILITY (2010)

添加到收藏夹

Article Obstetrics & Gynecology

A single-nucleotide polymorphism of the DAZL gene promoter confers susceptibility to spermatogenic failure in the Taiwanese Han

Yeng-Ni Teng, Yi-Ping Chang, Joseph T. Tseng, Po-Hsiu Kuo, I-Wen Lee, Maw-Sheng Lee, Pao-Lin Kuo

HUMAN REPRODUCTION (2012)

添加到收藏夹

Article Andrology

Expression of lrwd1 in mouse testis and its centrosomal localization

Yen-Ni Teng, Ming-Hui Liao, Yang-Ben Lin, Pao-Lin Kuo, Ting-Yi Kuo

INTERNATIONAL JOURNAL OF ANDROLOGY (2010)

添加到收藏夹

Article Biochemistry & Molecular Biology

Nuclear Factor-κB (NF-κB) Regulates the Expression of Human Testis-Enriched Leucine-Rich Repeats and WD Repeat Domain Containing 1 (LRWD1) Gene

Yen-Ni Teng, Po-Jung Chuang, Yo-Wen Liu

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2013)

添加到收藏夹

Article Biochemistry & Molecular Biology

SEPT12-Microtubule Complexes Are Required for Sperm Head and Tail Formation

Pao-Lin Kuo, Han-Sun Chiang, Ya-Yun Wang, Yung-Che Kuo, Mei-Feng Chen, I-Shing Yu, Yen-Ni Teng, Shu-Wha Lin, Ying-Hung Lin

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2013)

添加到收藏夹

Article Multidisciplinary Sciences

Induction of Bcl-2 Expression by Hepatitis B Virus Pre-S2 Mutant Large Surface Protein Resistance to 5-Fluorouracil Treatment in Huh-7 Cells

Jui-Hsiang Hung, Yen-Ni Teng, Lily Hui-Ching Wang, Ih-Jen Su, Clay C. C. Wang, Wenya Huang, Kuan-Han Lee, Kuan-Ying Lu, Lyu-Han Wang

PLOS ONE (2011)

添加到收藏夹

Article Multidisciplinary Sciences

Endoplasmic Reticulum Stress Stimulates p53 Expression through NF-κB Activation

Wan-Chi Lin, Yu-Chi Chuang, Yung-Sheng Chang, Ming-Derg Lai, Yen-Ni Teng, Ih-Jen Su, Clay C. C. Wang, Kuan-Han Lee, Jui-Hsiang Hung

PLOS ONE (2012)

添加到收藏夹

Article Multidisciplinary Sciences

The Antiproliferative and Apoptotic Effects of Sirtinol, a Sirtuin Inhibitor on Human Lung Cancer Cells by Modulating Akt/β-Catenin-Foxo3A Axis

Yao Fong, Yin-Chieh Lin, Chang-Yi Wu, Hui-Min David Wang, Li-Li Lin, Han Lin Chou, Yen-Ni Teng, Shyng-Shiou Yuan, Chien-Chih Chiu

SCIENTIFIC WORLD JOURNAL (2014)

添加到收藏夹

暂无数据

© Peeref 2019-2024. All rights reserved.