Results 61 to 70 of about 36,631 (311)

Chromosomal Aberrations in 224 Couples with Recurrent Pregnancy Loss

Journal of Human Reproductive Sciences, 2020
Background: Recurrent pregnancy loss (RPL) is a major reproductive health issue, affecting 2%–5% of couples. Genetic factors, mainly chromosomal abnormalities, are the most common cause of early miscarriage accounting for 50%–60% of first trimester ...
Ghada Mohamed Elhady, Soha Kholeif, Nahla Nazmy   +2 more
doaj   +1 more source

Non-invasive prenatal screening tests – update 2022

Journal of Laboratory Medicine, 2022
Since 2012, non-invasive prenatal testing (NIPT) using cell-free DNA from maternal plasma is applied all over the world as highly efficient first-line or contingent screening approach for trisomy 13, 18 and 21.
Kypri Elena, Ioannides Marios, Achilleos Achilleas, Koumbaris George, Patsalis Philippos, Stumm Markus   +5 more
doaj   +1 more source

Leukemia-related chromosomal loss detected in hematopoietic progenitor cells of benzene-exposed workers. [PDF]

, 2012
Benzene exposure causes acute myeloid leukemia and hematotoxicity, shown as suppression of mature blood and myeloid progenitor cell numbers. As the leukemia-related aneuploidies monosomy 7 and trisomy 8 previously had been detected in the mature ...
Guo, W, Hayes, R, Hubbard, A, Ji, Z, Lan, Q, Li, G, Linet, M, McHale, C, Rappaport, S, Rothman, N, Shen, M, Smith, Martyn T., Vermeulen, R, Yin, S, Zhang, L   +14 more
core   +1 more source

T Cell Exhaustion in Cancer Immunotherapy: Heterogeneity, Mechanisms, and Therapeutic Opportunities

Advanced Science, EarlyView.
T cell exhaustion limits immunotherapy efficacy. This article delineates its progression from stem‐like to terminally exhausted states, governed by persistent antigen, transcription factors, epigenetics, and metabolism. It maps the exhaustion landscape in the TME and proposes integrated reversal strategies, providing a translational roadmap to overcome
Yang Yu, Xiaoyu Yao, Qingyang Wang, Mengrui Yang, Runze Li, Jiangjiang Qin, Jing Zhuang, Changgang Sun   +7 more
wiley   +1 more source

Cytogenetic findings in patients with intellectual disability and/or multiple congenital anomalies [PDF]

Journal of Analytical Research in Clinical Medicine, 2016
Introduction: Chromosomal abnormalities are a major etiology of intellectual disability (ID) and multiple congenital anomalies (MCAs). Screening for chromosomal aberrations by clinical diagnostic techniques has been primarily performed ...
Sima Derakhshan, Mahmoud Khaniani
doaj   +1 more source

Differences of size and shape of active and inactive X-chromosome domains in human amniotic fluid cell nuclei [PDF]

, 1993
It is a widely held belief that the inactive X-chromosome (Xi) in female cell nuclei is strongly condensed as compared to the largely decondensed active X-chromosome (Xa).
Barr, Brakenhoff, Brakenhoff, Collins, Comings, Cremer, Cremer, Cremer, Cremer, Cremer, Dyer, Dyer, Gartler, Geiger, Grumbach, Hens, Johnson, Krystosek, Leitch, Lichter, Lyon, Manuelidis, Morton, Ohno, Pinkel, Pinkel, Popp, Rosenfeld, Schardin, Shotton, Stelzer, Stelzer, Taylor, Therman, Therman, van Dekken, Visser, Vogel, Walker, Zorn   +39 more
core   +1 more source

Sex chromosome aberrations in schizophrenia.

Indian journal of psychiatry, 2011
Research on sex chromosome aberrations has made considerable progress. There are evidences that possession of an extra X chromosome may affect the mental health of an individual. All the male schizophrenia patients registered during the period of study, who were not under treatment, constituted the patient sample.
S B, Chatterjee, S K, Basu
openaire   +1 more source

NUDT21 Drives T‐Cell Acute Lymphoblastic Leukemia Through Dual Regulation of Alternative Polyadenylation and Transcriptional Activation

Advanced Science, EarlyView.
In summary, our study defines a coordinated oncogenic model in which NUDT21 integrates alternative polyadenylation–dependent UBE2D3 stabilization and transcriptional activation to sustain MYC‐driven T‐ALL cell survival, thereby establishing NUDT21 as a central regulatory node and a promising therapeutic target.
Conglian Qiu, Jianwei Wang, Zhiheng Li, Qi Ji, Hui Zhang, Qinyi Zhang, Senlin Zhang, Juanjuan Yu, Yanfang Tao, Yijun Wu, Chunxia Shi, Zong Zai, Zimu Zhang, Yizhen Li, Zhenjiang Bai, Shaoyan Hu, Jian Pan, Yang Yang, Shuiyan Wu   +18 more
wiley   +1 more source

Proteogenomic characterization of cholangiocarcinoma

Hepatology, EarlyView., 2022
Proteogenomic characterization of cholangiocarcinoma with therapeutic strategies Abstract Background and Aims Cholangiocarcinoma (CCA) is a highly heterogeneous cancer with limited understanding and few effective therapeutic approaches. We aimed at providing a proteogenomic CCA characterization to inform biological processes and treatment ...
Mengjie Deng, Peng Ran, Lingli Chen, Yunzhi Wang, Zixiang Yu, Ke Cai, Jinwen Feng, Zhaoyu Qin, Yanan Yin, Subei Tan, Yang Liu, Chen Xu, Guoming Shi, Yuan Ji, Jian‐Yuan Zhao, Jian Zhou, Jia Fan, Yingyong Hou, Chen Ding   +18 more
wiley   +1 more source

Genetic damages in radiation workers of radiology centers in Bushehr port

Iranian South Medical Journal, 2004
Unstable genetic aberrations might provide a good marker for assessing genetic damage in populations exposed to low levels of ionizing radiation.The frequency of these aberrations was estimated in peripheral lymphocytes from hospital workers in Bushehr ...
Gholamreza Khamisipour, Abdolmajid Tamjidi, Akram Tamjidi, Iraj Nabipour   +3 more
doaj