Results 141 to 150 of about 3,861,183 (367)

Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies

Neuropsychopharmacology, 2018
T. Green, S. Flash, A. Reiss
semanticscholar   +1 more source

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. [PDF]

, 2019
BackgroundAngelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13.
Anselm, Irina, Bacino, Carlos A, Bichell, Terry Jo, Bird, Lynne M, Golden, Stephanie, Han, Julia, Kimonis, Virginia, Peters, Sarika U, Waisbren, Susan   +8 more
core  

Targeting eRNA‐Producing Super‐Enhancers Regulates TNFα Expression and Mitigates Chronic Inflammation in Mice and Patient‐Derived Immune Cells

Advanced Science, EarlyView.
Targeting eRNAs from TNFα‐associated super‐enhancers with ASOs effectively reduces TNFα expression and inflammatory responses in both mouse models and patient‐derived immune cells. The conserved nature of these regulatory regions between species highlights the potential of eRNA‐targeted approaches as a therapeutic strategy for chronic inflammatory ...
Minjeong Cho, Su Min Kim, Jiyeon Lee, Oh Chan Kwon, Wonjin Woo, Eunji Lee, Hyo Jin Park, Yeongun Lee, So Hee Dho, Tae‐Kyung Kim, Min‐Chan Park, Richard A. Flavell, Lark Kyun Kim   +12 more
wiley   +1 more source

A ubiquitin C-terminal hydrolase gene on the proximal short arm of the X chromosome: implications for X-linked retinal disorders [PDF]

, 1996
D. J. Swanson
openalex   +1 more source

Tead1a Initiates Transcriptional Priming Through the TEAD1a/YAP‐Notch1‐Spi1/Cebpα Axis to Promote Neutrophil Fate

Advanced Science, EarlyView.
This study discovered that the protein TEAD1a is crucial for neutrophil development. In zebrafish models, disrupting TEAD1a or its interaction with partner protein YAP1 caused severe neutrophil deficiency. TEAD1a functions during the early HSC stage, activates Notch1 signaling in the GMP stage, and triggers Spi1 and Cebpα to drive neutrophil terminal ...
Wang Yiqin, Yang Ruimeng, Wang Peihong, Liu Xiaohui, Yuan Hao, Huang Hongli, Zhou Yongjian, Xie Baoshu   +7 more
wiley   +1 more source

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

Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy

Advanced Science, EarlyView.
MED27 is one of the 26 subunits in the human Mediator complex (MED). Neurodevelopmental disorder‐causing MED27 genetic variants induce instability of MED, leading to disrupted DNA occupancy, altered chromatin interaction, and subsequent transcriptional dysregulation of critical downstream genes, including master regulatory transcription factors ...
Nuermila Yiliyaer, Xiaocheng Li, Tianyu Guo, Haiying Zhou, Lihai Gong, Luowei Yuan, Yang Fu, Yulong Qiao, Ying Lam Lui, Nuo Chen, Pengfei Lin, Hoi Hung Cheung, Ho Ko, Linyan Meng, Xiao Chen, Yong Lei, Kin Ming Kwan, Huating Wang, Shen Gu   +18 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

Identifying Tipping Points during Healthy Brain Aging through Single‐Nucleus Transcriptomic Analysis

Advanced Science, EarlyView.
This study applies single‐nucleus transcriptomics and systems dynamics to uncover nonlinear aging patterns in healthy human brains. By introducing dynamic network biomarker theory, the authors identify a critical tipping point at ages 56–60 during aging, and highlight glial instability as a key mediator.
Peiru Wu, Xuyu Zhao, Zixin Chen, Jingying Huang, Tengteng Dai, Jianxin Zhou, Luyao Xiao, Luonan Chen, Robert Chunhua Zhao, Jiao Wang   +9 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