Results 31 to 40 of about 10,428 (253)

Rapid diagnosis of aneuploidy using segmental duplication quantitative fluorescent PCR. [PDF]

PLoS ONE, 2014
The aim of this study was use a simple and rapid procedure, called segmental duplication quantitative fluorescent polymerase chain reaction (SD-QF-PCR), for the prenatal diagnosis of fetal chromosomal aneuploidies.
Xiangdong Kong, Lin Li, Lei Sun, Kepeng Fu, Ju Long, Xunjin Weng, Xuehe Ye, Xinxiong Liu, Bo Wang, Shanhuo Yan, Haiming Ye, Zuqian Fan   +11 more
doaj   +1 more source

Unraveling the Molecular Mechanisms Underlying Spontaneous Multipolar Mitosis Through CIN‐seq

Advanced Science, EarlyView.
Multipolar mitosis, a hallmark of chromosomal instability (CIN), drives tumor heterogeneity but is challenging to study in live cells. Using CIN‐seq, a single‐cell multiomics method, we profiled rare CIN events and identified mechanisms associated with viable multipolar mitosis, including PTEN attenuation, Rho GTPase‐driven cytokinesis failure, and ...
Pin‐Rui Su, Ting‐Chun Chou, Maria Teresa López‐Cascales, Junfeng Huang, Tsai‐Ying Chen, Sjoukje van Wieren, Chan Li, Cecile Beerens, Li You, Jelle Storteboom, Miao‐Ping Chien   +10 more
wiley   +1 more source

The efficacy of expanded non‐invasive prenatal testing (NIPT) in a high‐risk twin pregnancies cohort

Acta Obstetricia et Gynecologica Scandinavica
Introduction Our objective was to evaluate the efficacy of expanded non‐invasive prenatal testing (NIPT) that includes both trisomies and copy number variants (CNVs) in high‐risk twin pregnancies. Material and Methods A prospective, double‐blinded cohort
Meng Meng, Jianping Chen, Yingjun Yang, Yun Zhang, Gang Zou, Fenhe Zhou, Xing Wei, Yuchun Ge, Jia Zhou, Luming Sun   +9 more
doaj   +1 more source

p53 Prohibits Propagation of Chromosome Segregation Errors that Produce Structural Aneuploidies

Cell Reports, 2017
Summary: The presence of an abnormal karyotype has been shown to be profoundly detrimental at the cellular and organismal levels but is an overt hallmark of cancer.
Mar Soto, Jonne A. Raaijmakers, Bjorn Bakker, Diana C.J. Spierings, Peter M. Lansdorp, Floris Foijer, René H. Medema   +6 more
doaj   +1 more source

TSPYL5 Promotes Triple‐Negative Breast Cancer Metastasis by Antagonizing USP10‐Mediated PTEN Stabilization to Unleash a ZEB1‐Dependent EMT Program

Advanced Science, EarlyView.
The hyperactivation of PI3K/AKT signaling in PTEN wild‐type triple‐negative breast cancer represents a clinical paradox. We delineate a novel post‐translational regulatory axis wherein the oncogene TSPYL5 competitively antagonizes the deubiquitinase USP10.
Jiaying Shi, Ming Yi, Shengyu Xie, Zhaokun Wang, Xinyue Zhang, Yangwei Zhang, Rui Tang, Yuan Yang, Yunqiang Liu   +8 more
wiley   +1 more source

Significance of aneuploidy

Journal of British Surgery, 1994
Abstract Aneuploidy is a state of abnormal and highly variable DNA and chromosome content found in both hereditary disorders and human malignancy. For two decades flow cytometry has allowed a wide-ranging survey of aneuploidy in clinicopathological series.
openaire   +2 more sources

Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

Molecular Cytogenetics, 2019
Background Non-invasive prenatal testing (NIPT) has been widely adopted for the detection of fetal aneuploidies and microdeletion syndromes, nevertheless, limited clinical utilization has been reported for the non-invasive prenatal screening of monogenic
George Koumbaris, Achilleas Achilleos, Michalis Nicolaou, Charalambos Loizides, Kyriakos Tsangaras, Elena Kypri, Petros Mina, Carolina Sismani, Voula Velissariou, Georgia Christopoulou, Pantelis Constantoulakis, Emmanouil Manolakos, Ioannis Papoulidis, Danai Stambouli, Marios Ioannides, Philippos Patsalis   +15 more
doaj   +1 more source

Placental Site Trophoblastic Tumor Acquires Immune Functions by Incorporating Host Maternal Genes

Advanced Science, EarlyView.
PSTT cells, through cell fusion with B cells, incorporate abundant non‐inherited maternal genes that are detectable by DNIMA. These hybrid cells acquire immunotherapy‐resistant genetic changes and increase the expression of B cell‐derived immune‐related molecules such as Ig, HLA, LILRB, SIGLEC10, and so on, creating an immunotolerant environment around
Kyosuke Kagami, Masanori Ono, Yasunari Mizumoto, Tatsuhito Kanda, Takashi Iizuka, Takiko Daikoku, Shin‐ichi Horike, Akira Hattori, Akihito Horie, Sachiko Minamiguchi, Tomoko Fujiwara, Kazuyoshi Hosomichi, Atsushi Tajima, Hirokazu Usui, Kaoru Abiko, Hiroshi Fujiwara   +15 more
wiley   +1 more source

Transcriptional consequences of aneuploidy [PDF]

Proceedings of the National Academy of Sciences, 2012
Aneuploidy, or an aberrant karyotype, results in developmental disabilities and has been implicated in tumorigenesis. However, the causes of aneuploidy-induced phenotypes and the consequences of aneuploidy on cell physiology remain poorly understood.
Sheltzer, Jason Meyer, Torres, Eduardo Martin, Dunham, Maitreya J., Amon, Angelika B   +3 more
openaire   +3 more sources

MIS12 Is Required for Kinetochore‐Microtubule Attachment in Oocyte Meiosis

Advanced Science, EarlyView.
A model depicting the role of MIS12 in K‐MT attachment during oocyte meiosis. The presence of MIS12 stabilizes bipolar K‐MT attachments by maintaining the function of NDC80 and its interaction with TUBB. This, in turn, promotes KNL1 assembly and subsequent SAC protein recruitment to kinetochores.
Jian Li, Chun‐Hui Zhang, Yong Wang, Cheng‐Yuan Li, Da‐Rong Wen, Xi Xia, Liang Zhou, Wei‐Ping Qian, Qing‐Yuan Sun, Chang‐Zhong Li   +9 more
wiley   +1 more source