Results 211 to 220 of about 946,819 (342)

Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling. [PDF]

Sci Rep
Yin K, Li M, Zhang H, Chang J, Qi Q, Zhou X, Guo J, Wang Y, Mao X, Hao N, Jiang Y.   +10 more
europepmc   +1 more source

Cardiovascular Anomalies among 1005 Fetuses Referred to Invasive Prenatal Testing-A Comprehensive Cohort Study of Associated Chromosomal Aberrations. [PDF]

Int J Environ Res Public Health, 2022
Wójtowicz A, Madetko-Talowska A, Wójtowicz W, Szewczyk K, Huras H, Bik-Multanowski M.   +5 more
europepmc   +1 more source

Clinical impact of chromosomal aberrations in multiple myeloma

Journal of Internal Medicine, 2011
H. Nahi, Tolga Sutlu, M. Jansson, E. Alici, G. Gahrton   +4 more
semanticscholar   +1 more source

DNA Replication Errors Drive Genome‐Wide Small Inverted Triplication Dynamics

Advanced Science, EarlyView.
This study provides insight into the dynamic equilibrium mechanism of a novel structural variant, small inverted triplication (SIT), which is generated by misalignment of the 3’ flap generated under DNA replication stress with palindromic sequence. Alternatively, the end sequence may fold back on itself to form an inverted fragment.
Yi Lei, Yu Zhou, Haitao Sun, Hang Yuan, Xinyu Pei, Jessica D. Hess, Yao Yan, Zunsong Hu, Mian Zhou, Zhaohui Gu, Li Zheng, Xiwei Wu, Binghui Shen   +12 more
wiley   +1 more source

Chromosomal Aberrations in Induced Pluripotent Stem Cells: Identification of Breakpoints in the Large <i>DCC</i> Gene and <i>HIST2</i> Histone Gene Cluster. [PDF]

Int J Mol Sci
Zheglo D, Pozhitnova VO, Kislova AV, Markova ZG, Kiselev D, Sviridov PS, Sviridova V, Gumerova LI, Smirnikhina SA, Alsalloum A, Pylina SV, Kutsev SI, Voronina ES.   +12 more
europepmc   +1 more source

Single-cell resolved ploidy and chromosomal aberrations in nonalcoholic steatohepatitis-(NASH) induced hepatocellular carcinoma and its precursor lesions. [PDF]

Sci Rep, 2022
Friemel J, Torres I, Brauneis E, Thörner T, Schäffer AA, Gertz EM, Grob T, Seidl K, Weber A, Ried T, Heselmeyer-Haddad K.   +10 more
europepmc   +1 more source

Metabolic Imbalance Triggers Adaptive Remodeling to Accelerate Diploidization in Murine Haploid Embryonic Stem Cells

Advanced Science, EarlyView.
In this article, Shuai and colleagues demonstrate that metabolic remodeling drives self‐diploidization in murine haploid ESCs (haESCs). Mitochondrial dysfunction and imbalanced pyruvate metabolism underlie this process. Genome‐wide screening using haESCs identifies key mitochondrial quality‐control related genes, enabling a metabolism‐based medium that
Yi Fu, Wenhao Zhang, Yifan Zhang, Yu He, Yi Du, Yiding Zhao, Chunmeng Yao, Shengyi Sun, Xiaoyan Sheng, Qian Gao, Chao Tong, Ling Shuai   +11 more
wiley   +1 more source

Association of chromosomal aberrations in chromosomes 3 and 7, and P16 mutations with malignancy in salivary gland tumors. [PDF]

PeerJ
Wu Y, Xie Z, Peng N, Zhou R, Zhao L.
europepmc   +1 more source

Evaluation of chromosomal aberrations in patients with benign conditions and reactive changes in urinary cytology

Cancer Cytopathology, 2011
C. Tapia, K. Glatz, E. Obermann, B. Grilli, A. Barascud, M. Herzog, R. Schönegg, S. Savic, L. Bubendorf   +8 more
semanticscholar   +1 more source

ALKBH3 m1A Demethylase Deficiency Reduces Alzheimer's Amyloid‐β Pathology

Advanced Science, EarlyView.
This study identifies that ALKBH3‐driven m1A demethylation orchestrates Alzheimer's disease progression by disrupting mitochondrial and synaptic homeostasis. This epitranscriptomic mechanism suppresses PINK1‐mediated mitophagy via m1A erasure, leading to mitochondrial dysfunction, oxidative stress, elevated Aβ production, and impaired microglial ...
Yueyang Li, Sifei Yu, Kaidong Lu, Yujie Zhang, Mingjie Dong, Yan Peng, Liang Xue, Waleed Alam, Yuxuan Shui, Yi Zhou, Wuyunhan Ma, Meng Bao, Peiming Li, Peiyi Luo, Tiezhan Lu, Jiajia Li, Kang Zhang, Yuying Wang, Shuchen Yang, Nuoya Yin, Francesco Faiola, Zilong Gao, Jingfeng Zhou, Fei Zhao, Yali He, Magdalena J. Koziol   +25 more
wiley   +1 more source