[HTML][HTML] Molecular complexes at euchromatin, heterochromatin and centromeric chromatin

O Morrison, J Thakur - International Journal of Molecular Sciences, 2021 - mdpi.com
Chromatin consists of a complex of DNA and histone proteins as its core components and
plays an important role in both packaging DNA and regulating DNA metabolic pathways …

Genetic alterations of DNA methylation machinery in human diseases

T Hamidi, AK Singh, T Chen - Epigenomics, 2015 - Taylor & Francis
DNA methylation plays a critical role in the regulation of chromatin structure and gene
expression and is involved in a variety of biological processes. The levels and patterns of …

Mutations in DNMT3B modify epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy

ML van den Boogaard, RJLF Lemmers, J Balog… - The American Journal of …, 2016 - cell.com
Facioscapulohumeral dystrophy (FSHD) is associated with somatic chromatin relaxation of
the D4Z4 repeat array and derepression of the D4Z4-encoded DUX4 retrogene coding for a …

Practice parameter for the diagnosis and management of primary immunodeficiency

FA Bonilla, DA Khan, ZK Ballas, J Chinen… - Journal of Allergy and …, 2015 - Elsevier
The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American
College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for …

Hepatocellular cystathionine γ lyase/hydrogen sulfide attenuates nonalcoholic fatty liver disease by activating farnesoid X receptor

W Xu, C Cui, C Cui, Z Chen, H Zhang, Q Cui, G Xu… - Hepatology, 2022 - journals.lww.com
Inborn errors of immunity (IEIs) consist of numerous rare, inherited defects of the immune
system that affect about 500,000 people in the United States. As advancements in diagnosis …

Epigenetic regulation of genomic stability by vitamin C

JP Brabson, T Leesang, S Mohammad… - Frontiers in genetics, 2021 - frontiersin.org
DNA methylation plays an important role in the maintenance of genomic stability. Ten-
eleven translocation proteins (TETs) are a family of iron (Fe2+) and α-KG-dependent …

[HTML][HTML] The genetics and clinical manifestations of telomere biology disorders

SA Savage, AA Bertuch - Genetics in Medicine, 2010 - Elsevier
Telomere biology disorders are a complex set of illnesses defined by the presence of very
short telomeres. Individuals with classic dyskeratosis congenita have the most severe …

Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

PE Thijssen, Y Ito, G Grillo, J Wang, G Velasco… - Nature …, 2015 - nature.com
Abstract The life-threatening Immunodeficiency, Centromeric Instability and Facial
Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder …

Specific loss of histone H3 lysine 9 trimethylation and HP1γ/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD)

W Zeng, JC De Greef, YY Chen, R Chien, X Kong… - PLoS …, 2009 - journals.plos.org
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy in
which no mutation of pathogenic gene (s) has been identified. Instead, the disease is, in …

Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions

S Yehezkel, Y Segev… - Human molecular …, 2008 - academic.oup.com
Telomeres and adjacent subtelomeric regions are packaged as heterochromatin in many
organisms. The heterochromatic features include DNA methylation, histones H3-Lys9 …