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 …

An epigenetic framework for neurodevelopmental disorders: from pathogenesis to potential therapy

MJ Millan - Neuropharmacology, 2013 - Elsevier
Neurodevelopmental disorders (NDDs) are characterized by aberrant and delayed early-life
development of the brain, leading to deficits in language, cognition, motor behaviour and …

Structures of CTCF–DNA complexes including all 11 zinc fingers

J Yang, JR Horton, B Liu, VG Corces… - Nucleic acids …, 2023 - academic.oup.com
The CCCTC-binding factor (CTCF) binds tens of thousands of enhancers and promoters on
mammalian chromosomes by means of its 11 tandem zinc finger (ZF) DNA-binding domain …

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

CMR Weemaes, MJ Van Tol, J Wang… - European Journal of …, 2013 - nature.com
Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a
primary immunodeficiency, predominantly characterized by agammaglobulinemia or …

Enhanced CD19 activity in B cells contributes to immunodeficiency in mice deficient in the ICF syndrome gene Zbtb24

Z Ying, S Hardikar, JB Plummer, T Hamidi… - Cellular & Molecular …, 2023 - nature.com
I mmunodeficiency, c entromeric instability, and f acial anomalies (ICF) syndrome is a rare
autosomal recessive disorder characterized by DNA hypomethylation and antibody …

Genetic, cellular and clinical features of ICF syndrome: a French national survey

D Sterlin, G Velasco, D Moshous, F Touzot… - Journal of clinical …, 2016 - Springer
Purpose Autosomal recessive deficiencies of DNMT3B or ZBTB24 account for two-thirds of
cases of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) …

[HTML][HTML] Bridging the gap: neurodevelopmental disorder risks in inborn errors of immunity

D Kurup, AM FitzPatrick, A Badura… - Current Opinion in …, 2024 - journals.lww.com
IEIs comprise a group of clinically heterogeneous disorders associated with a number of
nonimmune comorbidities. Although certain neurological conditions such as microcephaly …

Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients

H Nitta, M Unoki, K Ichiyanagi, T Kosho… - Journal of human …, 2013 - nature.com
Immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome is a rare
autosomal recessive disorder that shows DNA hypomethylation at pericentromeric satellite-2 …

Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)

H von Bernuth, E Ravindran, H Du, S Fröhler… - Orphanet Journal of …, 2014 - Springer
The autosomal recessive immunodeficiency-centromeric instability-facial anomalies
syndrome (ICF) is characterized by immunodeficiency, developmental delay, and facial …

Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2

ML Van den Boogaard, PE Thijssen, C Aytekin… - Clinical …, 2017 - Wiley Online Library
Background Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome
is a rare, genetically heterogeneous, autosomal recessive disorder. Patients suffer from …