Results 151 to 160 of about 3,786,126 (364)

Genetic refinement and physical mapping of a chromosome 18q candidate region for bipolar disorder [PDF]

, 1999
Geert R. Verheyen, Sandra Villafuerte, Jurgen Del‐Favero, Daniel Souery, J. Mendlewicz, Christine Van Broeckhoven, Peter Raeymaekers   +6 more
openalex   +1 more source

ChromInSight: Revealing DNA Double‐Strand Breaks Through Chromatin Structural Insights With an Interpretable Graph Neural Network Framework

Advanced Science, EarlyView.
DSBs are the most critical genomic lesions. Using the ChromInSight framework, It is revealed that 3D chromatin structure, rather than linear distance, shapes cluster‐scene between hub‐Nodes and DSB loci. The “spatial isolation–damage containment” hypothesis is proposed to illustrate how the genome responds to genomic damage and offer a powerful tool ...
Kang Xu, Zongyuan Yu, Canzhuang Sun, Conglin Gou, Jiangyue Zhu, Jun Wang, Xiaochen Bo, Guoxian Yu, Hao Li, Hebing Chen   +9 more
wiley   +1 more source

Preimplantation diagnosis: an alternative to prenatal diagnosis of genetic and chromosomal disorders. International Working Group on Preimplantation Genetics. [PDF]

, 1999
Yury Verlinsky
openalex   +1 more source

FemXpress: Systematic Analysis of X Chromosome Inactivation Heterogeneity in Female Single‐Cell RNA‐Seq Samples

Advanced Science, EarlyView.
FemXpress is a computational tool that leverages X‐linked single nucleotide polymorphisms (SNPs) to group cells by the origin of the inactivated X chromosome in female single‐cell RNA sequencing (scRNA‐Seq) data. It demonstrates strong performance on both simulated and real datasets without requiring parental genomic information, and can also identify ...
Xin Wang, Yingke Ma, Fan Li, Wentao Cui, Tianshi Pan, Siqi Wang, Sinan Ma, Qingtong Shan, Chao Liu, Yukai Wang, Ying Zhang, Yuanchun Zhou, Wei Li, Pengfei Wang, Qi Zhou, Guihai Feng   +15 more
wiley   +1 more source

Chromosomal Studies in Normal Human Subjects and in 300 Cases of Congenital Disorders Part II

, 1964
Sajiro Makino
openalex   +2 more sources

Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders [PDF]

, 2000
Yonggang Ji, Evan E. Eichler, Stuart Schwartz, Robert D. Nicholls   +3 more
openalex   +1 more source

Hierarchical Prediction and Perturbation of Chromatin Organization Reveal How Loop Domains Mediate Higher‐Order Architectures

Advanced Science, EarlyView.
HiCGen introduces a hierarchical deep learning framework to predict genome organization across spatial scales using DNA sequences and genomic features. The model enables cross‐cell‐type predictions and in silico perturbation analysis, revealing correlations between loop domains and higher‐order structures.
Jiachen Wei, Yue Xue, Yi Qin Gao
wiley   +1 more source

A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16 [PDF]

, 2000
Enza Maria Valente
openalex   +1 more source

SIRT6 Lysine‐Demyristoylates ATF2 to Ameliorate Vascular Injury via PRKCD/VE‐Cadherin Pathway Regulating Vascular Endothelial Barrier

Advanced Science, EarlyView.
A novel modified SIRT6 variant (dSIRT6) H133Y‐mediated enrichment technique unmasks 15 new human lysine‐myristoylated proteins. Notably, Sirtuin 6 (SIRT6) demyristoylation of activating transcription factor 2 (ATF2) at K296 orchestrates its nucleoplasmic translocation.
Runyang Feng, Zheyan Fang, Shuang Zhao, You‐en Zhang, Na Wu, Zhenyang Guo, Xin Zhong, Bixuan Jiang, Hongfei Xu, Hangnan Hong, Zhentao Zhang, Mukaddas Abdurahman, Xueting Yu, Jilong Geng, Xiansu Nie, Supuya Abuduwahapi, Dong Huang, Gang Zhao, Wenbin Zhang, Hao Lu, Li Shen, Xin Zhao, Zhaoyang Chen, Junjie Guo, Hongchao Zheng, Yue He, Sanwu Wu, Jiayin Peng, Jiawen Song, Xiao Wang, Haomin Li, Yuli Huang, Shengying Qin, Haojie Lu, Xiangdong Wang, Jianguo Zhao, Lei Huang, Yun Zhao, Peng Li, Junbo Ge, Hua Li   +40 more
wiley   +1 more source

CHROMOSOME STUDIES IN HUMAN CLINICAL DISORDERS

, 1964
Tetsuji KADOTANI
openalex   +2 more sources