Results 61 to 70 of about 59,286 (281)

Disruption of the SNRPF–DDX24–E2F4 Feedback Loop Uncouples Splicing and Transcriptional Regulation to Suppress Ovarian Cancer Progression

Advanced Science, EarlyView.
This study identifies SNRPF as a critical oncogenic driver in ovarian cancer. By regulating a self‐sustaining SNRPF–DDX24–E2F4 feedback loop through intron retention and nonsense‐mediated decay, SNRPF couples RNA splicing with transcriptional regulation to promote tumor progression.
Yingwei Li, Zhongshao Chen, Qianqian Gao, Yuehan Gao, Ning Yang   +4 more
wiley   +1 more source

Epidemiology of fetal cerebral ventriculomegaly and evaluation of chromosomal microarray analysis versus karyotyping for prenatal diagnosis in a Chinese hospital

Journal of International Medical Research, 2019
Objective To evaluate the efficiency and incremental value of chromosomal microarray analysis as compared with standard karyotyping for the identification of genomic abnormalities in fetal DNA.
Jun-Ling Yi, Wei Zhang, Da-Hua Meng, Li-Jie Ren, Jin Yu, Yi-Liang Wei   +5 more
doaj   +1 more source

Methylmalonic acidemia in prenatal diagnosis

Clinical and Experimental Obstetrics & Gynecology, 2020
Objective: The objective of this study was to report the prenatal diagnosis for methylmalonic acidemia. Materials and Methods: Isolated methylmalonic acidemia was diagnosed by analyzing organic acids in the blood and urine.
B.F. Zhou, C.X. Duan, D.L. Tang
doaj   +1 more source

Master Regulator SMC1A, Stabilized by N6‐Methyladenosine Reader IGF2BP1, Promotes HCC Progression Through Facilitating Enhancer–Promoter Interaction of Nestin

Advanced Science, EarlyView.
IGF2BP1‐mediated m6A stabilization sustains SMC1A expression, enabling cohesin‐associated chromatin regulation of Nestin in hepatocellular carcinoma. This work reveals an epitranscriptomic‐chromatin‐cytoskeletal regulatory axis linked to malignant phenotypes and identifies SMC1A as a biologically relevant vulnerability in HCC.
Zhenxiang Peng, Diguang Wen, Lu Zeng, Lin Lv, Shengtao Liao, Wenguang Zhang, Zhechuan Mei, Chuanfei Li   +7 more
wiley   +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

Pitt–Hopkins syndrome (PTHS)– a case report from Pakistan

Journal of the Pakistan Medical Association
Pitt–Hopkins syndrome (PTHS) is a rare genetic neurodevelopment disorder where affected individuals exhibit symptoms such as severe developmental delays and intellectual disability. To the best of our knowledge, this report presents the first known case
Asghar Nasir, Bushra Afroze, Saad Ilyas, Zeeshan Ansar, Zahra Hasan   +4 more
doaj   +1 more source

DHODH Drives Sunitinib Resistance Via a Non‐Enzymatic Mechanism by Inhibiting TRIM28 Ubiquitination and Consequent VEGFA Activation in RCC

Advanced Science, EarlyView.
This non‑enzymatic function of DHODH drives sunitinib resistance by competing with TRIM37 to block TRIM28 ubiquitination, thereby stabilizing TRIM28 and activating VEGFA transcription. Disrupting the DHODH–TRIM28 interaction with lisaftoclax restores drug sensitivity.
Shijie Qian, Shihang Pu, Zhipeng Xu, Yiheng Ding, Ling Jin, Baochao Li, Qi Li, Xiaohai Xi, Zengjun Wang, Jiajun Xing, Aiming Xu   +10 more
wiley   +1 more source

The Utility of Chromosomal Microarray Analysis in Developmental and Behavioral Pediatrics [PDF]

Child Development, 2013
Abstract Chromosomal microarray analysis (CMA) has emerged as a powerful new tool to identify genomic abnormalities associated with a wide range of developmental disabilities including congenital malformations, cognitive impairment, and behavioral abnormalities.
openaire   +2 more sources

Prenatal Diagnosis Using Chromosomal Microarray Analysis in High-Risk Pregnancies

, 2022
Background: To assess the value of chromosomal microarray analysis (CMA) during the prenatal diagnosis of high-risk pregnancies. Methods: Between January 2016 and November 2021, we included 178 chorionic villi and 859 amniocentesis samples from ...
Ching-Hua Hsiao, Ching-Hsuan Chen, Jia-Shing Chen, Woei-Chyn Chu, Shiao, Yu-Ming, Yann-Jang Chen, Chen, Ching-Hsuan, Yu-Ming Shiao, Chu, Woei-Chyn, Yi-Cheng Wu, Chen, Yann-Jang, Chen, Jia-Shing, Wu, Yi-Cheng, Hsiao, Ching-Hua   +13 more
core   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source