Results 121 to 130 of about 2,432,280 (329)

Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis

Background Although extensively investigated, the genetic etiology of fetal growth restriction (FGR) has not been fully understood. Previous studies have shown the potential of karyotyping, chromosomal microarray analysis (CMA) and trio-based WES (trio ...
Meihuan Chen, Xuna Shen, Hailong Huang, Meiying Cai, Xiaohe Pan, Yangping Chen, Binbin Song, Xiaohe Cai, Lili Zhou   +8 more
core   +1 more source

A case of spondylocostal dysostosis with a fra (5) (q32)

The Turkish Journal of Pediatrics, 1997
Spondylocostal dysostosis is a rare hereditary syndrome with various costal and vertebral deformities. No chromosomal abnormalities in connection with this syndrome were previously reported in literature.
M Satar, A K Temoçin, A Atici, O Demirhan   +3 more
doaj  

CHCHD10 Mitigates Alzheimer's Disease‐Related Phenotypes in Association With Epigenetic Remodeling in Directly Reprogrammed Neurons

Advanced Science, EarlyView.
CHCHD10 loss in Alzheimer's disease is associated with mitochondrial dysfunction, epigenomic disruption, and tau pathology. Restoration of CHCHD10 shifts DNA methylation toward a non‐disease state and reduces tau and amyloid pathology, with KATNAL2 acting as a downstream effector.
Teresa M. Thomas, Ching‐Yao Yang, Kexin Zhang, Liam Wetzel, Dina Bugybayeva, Julia Ferguson, Md Mahmudul Hasan, William Samsa, Nandita Patil, Anshul Dash, Tarini Gowda, Xiongwei Zhu, Feixiong Cheng, Tian Liu   +13 more
wiley   +1 more source

Chromosome abnormalities [PDF]

Nature, 1983
openaire   +2 more sources

The KIF6‐RBP Complex Orchestrates mRNA Transport Required for Sperm Flagellar Assembly

Advanced Science, EarlyView.
Two homozygous deleterious KIF6 variants are identified in unrelated men with impaired sperm motility. Mouse models and multi‐omics analyses reveal that KIF6 cooperates with the RNA‐binding proteins FMRP and FXR1 to deliver mRNAs essential for sperm flagellar assembly, linking disrupted mRNA transport to reduced abundance of key structural and ...
Chunbo Xie, Sibing Yi, Xinle Lin, Shen Zhang, Weili Wang, Shimin Yuan, Lanlan Meng, Yong Li, Chen Tan, Chunjia Wei, Yanyan Yu, Yaoqiong Liang, Huan Zhang, Liang Hu, Guangxiu Lu, Wenbin He, Qianjun Zhang, Juan Du, Ge Lin, Chaofeng Tu, Yue‐Qiu Tan   +20 more
wiley   +1 more source

Chromosomal aberrations in benign prostatic hyperplasia patients

, 2016
Purpose: To investigate the chromosomal changes in patients with benign prostatic hyperplasia (BPH). Materials and Methods: A total of 54 patients diagnosed with clinical BPH underwent transurethral prostate resection to address their primary ...
Mehmet Umul, Mustafa Güneş, Sedat Soyupek, Efkan Uz, Muammer Altok, Mehmet Akyüz, Özkan Bağcı, Fatih Uruç   +7 more
core   +1 more source

Chromosomal Abnormalities in Lymphoma [PDF]

BMJ, 1965
A S, SPIERS, A G, BAIKIE
openaire   +2 more sources

eEF1G Orchestrates Translation to Ensure Meiotic Progression in Transcriptionally Quiescent Spermatocytes

Advanced Science, EarlyView.
eEF1G supports translation elongation of meiotic mRNAs in transcriptionally quiescent leptotene and zygotene spermatocytes. Its depletion in germ cells causes meiotic arrest at the zygotene stage, with defective homologous synapsis and unstable recombination intermediates.
Jianze Xu, Yuwei Hu, Xukun Lu, Yuling Cai, Tongtong Li, Ming Gao, Jinlong Ma, Yuan Gao, Shangming Liu, Zi‐Jiang Chen, Jing Meng, Hongbin Liu, Xiaohua Jiang   +12 more
wiley   +1 more source

Sonography Markers of Chromosomal Abnormality in Second Trimester

, 2010
Maternal age is increasing in today's world of professional carrier of women. As we know with aging of ova chromosomal abnormalities in fetus are rising.
Jayprakash Shah
core   +1 more source

REGγ Suppresses Ferroptosis and Induces Drug Resistance by Degrading WDR6 in Chondrosarcoma

Advanced Science, EarlyView.
Here, we identified REGγ as a susceptibility factor in chondrosarcoma. Our study demonstrates that abnormally activated REGγ‐20S proteasome promotes chondrosarcoma development and progression. Further validation in animal models revealed that blocking REGγ function induced ferroptosis, suppressed malignant progression of chondrosarcoma, and uncovered a
Fanrong Liu, Shihui Shen, Dongxia Li, Peilin Shi, Jiaming Xu, Tongxin Lv, Yingying Du, Jingwei Zhang, Bo Yang, Hansen Chen, Zhuoya Peng, Wenjie Ren, Lu Zhang, Sheng Cheng, Tongjin Yin, Wencai Sheng, Lei Li, Juan Wu, Qingcheng Yang, Shuogui Xu, Wei Zheng   +20 more
wiley   +1 more source