Results 41 to 50 of about 18,587 (264)

Integrating Genetics With Epidemiological Measurements Identifies Burden QTLs of Inflammatory Bowel Disease across 20 Countries

Advanced Science, EarlyView.
The burden quantitative trait locus (bQTL) analysis integrates epidemiological data from GBD study with genotype of 2 621 978 SNPs from 2414 individuals in 1000 Genomes Project across 20 countries. rs7633471 shows the strongest effect that each increase in centi‐allele frequency of the allele C associated with 10.00 decrease of age‐standardized ...
Chen Sun, Siyu Wei, Junxian Tao, Haiyan Chen, Chi Yan, Jiacheng Wang, Jing Xu, Lian Duan, Yuanbo Zhan, Yuping Zou, Ruilin Li, Linna Yuan, Wei She, Songlin Lu, Ning Wang, Qinduo Ren, Yan Guo, Yuan Xu, Chang Wang, Hongsheng Tian, Chen Zhang, Yu Dong, Guoping Tang, Zhenwei Shang, Yongshuai Jiang, Wenhua Lv, Mingming Zhang, Hongchao Lyu   +27 more
wiley   +1 more source

Chromosomal aberrations in couples with pregnancy loss: A retrospective study

Journal of Human Reproductive Sciences, 2018
Background: Recurrent pregnancy loss is a challenging reproductive problem, and chromosomal anomalies approximately affect 2%–8% of couples with recurrent pregnancy loss.
Asoke K Pal, Prafulla S Ambulkar, Jwalant E Waghmare, Vandana Wankhede, Moreshwar R Shende, Aaditya M Tarnekar   +5 more
doaj   +1 more source

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

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

TRAIP Mediates Alcohol‐Induced Liver Injury through Regulating β‐catenin Ubiquitin Degradation via Direct Interaction

Advanced Science, EarlyView.
This study reveals that NF‐κB1‐driven TRAIP upregulation in ALD correlates with disease severity. Mechanistically, TRAIP directly binds β‐catenin via its CC domain and promotes its K48‐linked ubiquitination and degradation, which is independent of the GSK3β/β‐TrCP pathway.
Zhan Wu, Mingjiang Liu, Lijuan Liao, Zhaohong Mo, Wenli Xu, Linfeng Mao, Yubing Chen, Qiuli Xie, Ming Yao, Shilian Chen, Stephen Tomlinson, Sebastian Mueller, Songqing He, Guandou Yuan   +13 more
wiley   +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

Gm26550 Modulates Learning and Memory by Increasing IGF1 mRNA Expression and Stability in Nrf2−/− Mice

Advanced Science, EarlyView.
The present study shows that Nrf2 directly binds to the Gm26550 promoter, thereby activating Gm26550 transcription and increasing its expression. Mechanistically, Gm26550 promotes IGF1 expression by functionally antagonizing miR‐26a‐5p‐mediated repression and sequestering the RBP KHSRP, thereby enhancing hippocampal neuronal synaptic plasticity and ...
Hongfang Wang, Ziyao Wang, Dongyue Zuo, Zhaowen Su, Bowen Song, Jiamin Gao, Yizhou Zhang, Ruiting Zhao, Linjie Sun, Mengdi Li, Yirui Fan, Dandan Geng, Lei Wang   +12 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  

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

Fzd7 Restrains Pink1‐Dependent Mitophagy in Suture Stem Cells to Maintain Cranial Suture Patency

Advanced Science, EarlyView.
How suture stem cells fail to preserve cranial suture patency remains incompletely understood. Integrated single‐cell and high‐resolution spatial transcriptomic analyses identify reduced Fzd7 expression in Prrx1+ suture stem cells as an early feature of craniosynostosis.
Xinyan Chen, Zong Chen, Chenzhi Lai, Yingying Yue, Tian He, Hao Gong, Jing Shi, Xiaoshuang Guo, Yu Wang, Guodong Song, Xiaolei Jin   +10 more
wiley   +1 more source