Results 111 to 120 of about 237,429 (310)

Chromosome territory position and active relocation in normal and hutchinson-gilford progeria fibroblasts [PDF]

, 2009
This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.Radial chromosome positioning in interphase nuclei is non-random and can alter according to developmental, differentiation, proliferation or disease status.
Mehta, Ishita Shailesh
core  

Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function

Endocrine Connections, 2017
Insulin-like growth factor 1 receptor (IGF1R), mapping on the 15q26.3 chromosome, is required for normal embryonic and postnatal growth. The aim of the present study was to evaluate the IGF1R gene expression and function in three unrelated patients with ...
Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera, Aldo E Calogero   +6 more
doaj   +1 more source

Animal Models of Psychiatric Disorders That Reflect Human Copy Number Variation

Neural Plasticity, 2012
The development of genetic technologies has led to the identification of several copy number variations (CNVs) in the human genome. Genome rearrangements affect dosage-sensitive gene expression in normal brain development.
Jun Nomura, Toru Takumi
doaj   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

The role of homeobox gene in leukaemia [PDF]

, 2013
This thesis was submitted for the degree of Master of Philosophy and was awarded by Brunel UniversityHomeobox genes are known to be active during development and they are turned off after the early stages of developmental life.
Alshehri, Areej
core  

Impulsive traits and 5-HT2A receptor promoter polymorphism in alcohol dependents: Possible association but no influence of personality disorders [PDF]

, 2001
Objective: Impulsive behavior in alcoholics puts them at serious risk of severer course of disease and has been related to the serotonergic neurotransmission dysfunction.
Bondy, Brigitta, Preuss, Ulrich W., Soyka, Michael, Bahlmann, Miriam, Koller, G.   +4 more
core   +1 more source

Epigenetics and autoimmune diseases: The X chromosome-nucleolus nexus

Frontiers in Genetics, 2015
Autoimmune diseases occur more often in females, suggesting a key role for the X chromosome. X chromosome inactivation, a major epigenetic feature in female cells that provides dosage compensation of X-linked genes to avoid overexpression, presents ...
Wesley H. Brooks, Yves eRenaudineau, Yves eRenaudineau   +2 more
doaj   +1 more source

Interstitium‐Mimicking Porous Alveolar Membranes Enable Physiologic Aerosol Transport and Distinct Acute‐Chronic Lung Injury Responses

Advanced Functional Materials, EarlyView.
An interstitium‐mimicking membrane combines three‐dimensional alveolar geometry, high pore interconnectivity, and mechanical compliance to overcome transport limitations of conventional lung‐on‐chip barriers. The resulting platform supports physiologic aerosol transport, quantitative analysis of cross‐barrier particle movement, and reveals divergent ...
Jae‐Won Choi, Sheng Zhang, Abbas Jalili, August Kohls, Woo‐Youl Maeng, Sikandar Azam, Wu Liu, Barbie Varghese, Yixin Zhao, Xi Ren, Shimin Liu, Si‐Yang Zheng   +11 more
wiley   +1 more source

Role of sex in immune response and epigenetic mechanisms

Epigenetics & Chromatin
The functioning of the human immune system is highly dependent on the sex of the individual, which comes by virtue of sex chromosomes and hormonal differences. Epigenetic mechanisms such as X chromosome inactivation, mosaicism, skewing, and dimorphism in
Sombodhi Bhattacharya, Debasmita Sadhukhan, Radha Saraswathy   +2 more
doaj   +1 more source

Inhibition of IGFBP4 in Granulosa Cells Improves Reproductive Performance and Maintains Fertility With Age via YAP Signaling

Advanced Science, EarlyView.
IGFBP4 is upregulated in granulosa cells of aged ovaries across monkeys, mice, and humans. It inhibits YAP signaling, thereby suppressing cell proliferation and contributing to follicular dysfunction. Deletion of Igfbp4 in granulosa cells enhances ovulatory output, improves hormone profiles, and reproductive performance in aged female mice, suggesting ...
Qianhui Hu, Ajun Geng, Ziyuan Li, Fanghao Guo, Jingqiang Wang, Xinyi Chen, Meiling Zhang, Yi Arial Zeng, Wen Li   +8 more
wiley   +1 more source