A5101674618- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- CRISPR and Genetic Engineering
- Chromosomal and Genetic Variations
- Lipoproteins and Cardiovascular Health
- Biotin and Related Studies
- Lipid metabolism and disorders
- Cancer, Lipids, and Metabolism
- Polydiacetylene-based materials and applications
- Genomics and Chromatin Dynamics
University of Washington
2023-2025
Beijing Anzhen Hospital
2023
Capital Medical University
2023
Institute of Electrical and Electronics Engineers
2018
Group Image (Poland)
2018
Odense University Hospital
2017
Abstract Background X chromosome inactivation (XCI) is a female-specific process in which one silenced to balance X-linked gene expression between the sexes. XCI initiated early development by upregulation of lncRNA Xist on future inactive (Xi). A subset genes escape silencing and thus have higher females, suggesting functions. One these highly conserved Kdm6 a, encodes histone demethylase that removes methyl groups at H3K27 facilitate expression. KDM6A mutations been implicated congenital...
Abstract X chromosome inactivation (XCI) is a female-specific process in which one silenced to balance X-linked gene expression between the sexes. XCI initiated early development by upregulation of lncRNA Xist on future inactive (Xi). A subset genes escape silencing and thus have higher females, suggesting functions. One these highly conserved Kdm6a , encodes histone demethylase that removes methyl groups at H3K27 facilitate expression. Here, we investigate role KDM6A regulation . We...
<title>Abstract</title> <bold>Background:</bold> X chromosome inactivation (XCI) is a female-specific process in which one silenced to balance X-linked gene expression between the sexes. XCI initiated early development by upregulation of lncRNA Xist on future inactive (Xi). A subset genes escape silencing and thus have higher females, suggesting functions. One these highly conserved Kdm6a, encodes histone demethylase that removes methyl groups at H3K27 facilitate expression....
Objective: To identify and analyze 3D architecture of the mutational sites susceptible genes in a pedigree with familial hypercholesterolemia-like phenotype (FHLP). Methods: This is case series study. A suspected hypercholesterolemia was surveyed. The proband admitted Beijing Anzhen Hospital April 2019. Whole-exome sequencing performed to determine proband. Polymerase chain reaction (PCR) used verify pathogenic variant on proband's relatives. structural functional changes proteins were...