Results 81 to 90 of about 113,215 (275)

6q25.1-q25.3 Microdeletion in a Chinese Girl

JCRPE, 2021
Deletions of the long arm of chromosome 6 are rare and are characterized by great clinical variability according to the deletion breakpoint. Herein, we reported a 3-year-old girl evaluated for facial dysmorphism (long and connected eyebrows, big mouth ...
Mian-Ling Zhong, Ye-Mei Song, Chao-Chun Zou   +2 more
doaj   +1 more source

Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) [PDF]

, 2021
Lina Shao, Yassmine Akkari, Linda D. Cooley, David T. Miller, Bryce A. Seifert, Daynna J. Wolff, Fady M. Mikhail   +6 more
openalex   +1 more source

Genome reorganization in different cancer types: detection of cancer specific breakpoint regions [PDF]

, 2019
Background: Tumorigenesis is a multi-step process which is accompanied by substantial changes in genome organization. The development of these changes is not only a random process, but rather comprise specific DNA regions that are prone to the ...
Klein, Andreas, Parczyk, Jonas, Ruhnau, Jerome, Standfuß, Christoph   +3 more
core   +1 more source

DNMT2‐m5C‐ACLY Axis Promotes Lenvatinib Resistance in Hepatocellular Carcinoma Through Histone Acetylation‐Mediated Notch Pathway

Advanced Science, EarlyView.
Lenvatinib resistance poses a major challenge in advanced hepatocellular carcinoma (HCC). This study reveals that DNMT2 upregulation is a key driver, which stabilizes ACLY mRNA via m5C modification and activates the Notch signaling pathway. Crucially, combining ACLY inhibitors with lenvatinib overcomes resistance and suppresses tumors, offering a ...
Shiguang Yang, Jie Li, Shengwei Mao, Xuhui Zhao, Douwaner Liu, Jiafeng Chen, Jialu Fu, Yichao Bu, Xiaoling Wu, Shaoqing Liu, Qifeng Yu, Qiongzhu Dong, Zheng Tang, Yuan Fang, Yinghong Shi   +14 more
wiley   +1 more source

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. [PDF]

PLoS ONE, 2007
BACKGROUND: Array Comparative Genomic Hybridization (a-CGH) is a powerful molecular cytogenetic tool to detect genomic imbalances and study disease mechanism and pathogenesis.
Xinyan Lu, Chad A Shaw, Ankita Patel, Jiangzhen Li, M Lance Cooper, William R Wells, Cathy M Sullivan, Trilochan Sahoo, Svetlana A Yatsenko, Carlos A Bacino, Pawel Stankiewicz, Zhishu Ou, A Craig Chinault, Arthur L Beaudet, James R Lupski, Sau W Cheung, Patricia A Ward   +16 more
doaj   +1 more source

Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis [PDF]

, 2023
Ping Hu, Qinxin Zhang, Qing Cheng, Chunyu Luo, Cuiping Zhang, Ran Zhou, Lulu Meng, Mingtao Huang, Yuguo Wang, Yan Wang, Fengchang Qiao, Zhengfeng Xu, Fengchang Qiao, Zhengfeng Xu   +13 more
openalex   +1 more source

Alcohol-Induced Histone Acetylation Reveals a Gene Network Involved in Alcohol Tolerance [PDF]

, 2013
Alfredo Ghezzi, Harish R. Krishnan, Linda Lew, Francisco J. Prado III, Darryl S. Ong, Nigel S. Atkinson, Section of Neurobiology and Waggoner Center for Alcohol and Addiction Research, The University of Texas at Austin, Austin, Texas, United States of ...
Atkinson, Nigel S., Ghezzi, Alfredo, Krishnan, Harish R., Lew, Linda, Ong, Darryl S., Prado III, Francisco J.   +5 more
core   +3 more sources

Targeting DAP5 Disrupts Alternate Mode of Translational Initiation in Tregs and Potentiates Antitumor Immunity

Advanced Science, EarlyView.
Regulatory T cells (Tregs) suppress antitumor immunity. This study identifies that the translation scaffold DAP5/eIF4G2 is upregulated in tumor‐infiltrating Tregs (ti‐Tregs). DAP5 mediates an alternate translation mode to sustain CD25 and MCL‐1 expression, which is critical for ti‐Treg stability and survival in the tumor microenvironment.
Xiaojiang Lai, Guihong Pan, Xixi Feng, Jun Zhang, Yunxia Li, Shanmeizi Zhao, Zhenming Lin, Yun Feng, Wei Bao, Hongyan Yang, Chengmei Xie, Chen Huang, Jun Wang   +12 more
wiley   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of two hereditary chromosomal duplications with favorable outcomes

Clinical and Experimental Obstetrics & Gynecology, 2020
The objective of this study was to report two cases of hereditary chromosomal duplications with favorable outcomes. In both cases, conventional karyotyping showed a normal karyotype.
Y.J. Wu, C.J. Yu, W.H. Tian, Z. Xu
doaj   +1 more source

Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]

, 2014
We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S, Parks, W Tony, Rajkovic, Aleksandar, Saller, Devereux N, Yatsenko, Svetlana A   +4 more
core   +1 more source