The genetics and epigenetics of 22q11. 2 deletion syndrome

Q Du, MT de la Morena, NSC van Oers - Frontiers in Genetics, 2020 - frontiersin.org
Chromosome 22q11. 2 deletion syndrome (22q11. 2del) is a complex, multi-organ disorder
noted for its varying severity and penetrance among those affected. The clinical problems …

Advances in the understanding of the genetic determinants of congenital heart disease and their impact on clinical outcomes

MW Russell, WK Chung, JR Kaltman… - Journal of the American …, 2018 - ahajournals.org
Congenital heart defects (CHDs) are the most common type of birth defect occurring in% 1%
of live births1 and, if minor cardiac abnormalities such as bicuspid aortic valve are included …

[HTML][HTML] Chromosome 22q11. 2 deletion syndrome: A comprehensive review of molecular genetics in the context of multidisciplinary clinical approach

A Szczawińska-Popłonyk, E Schwartzmann… - International journal of …, 2023 - mdpi.com
The 22q11. 2 deletion syndrome is a multisystemic disorder characterized by a marked
variability of phenotypic features, making the diagnosis challenging for clinicians. The wide …

The non‐specific lethal (NSL) complex at the crossroads of transcriptional control and cellular homeostasis

BN Sheikh, S Guhathakurta, A Akhtar - EMBO reports, 2019 - embopress.org
The functionality of chromatin is tightly regulated by post‐translational modifications that
modulate transcriptional output from target loci. Among the post‐translational modifications …

The role of epigenetics in congenital heart disease

TB Lim, SYR Foo, CK Chen - Genes, 2021 - mdpi.com
Congenital heart disease (CHD) is the most common birth defect among newborns
worldwide and contributes to significant infant morbidity and mortality. Owing to major …

Understanding the variability of 22q11. 2 deletion syndrome: The role of epigenetic factors

F Cillo, E Coppola, F Habetswallner, F Cecere… - Genes, 2024 - mdpi.com
Initially described as a triad of immunodeficiency, congenital heart defects and
hypoparathyroidism, 22q11. 2 deletion syndrome (22q11. 2DS) now encompasses a great …

[HTML][HTML] Craniofacial phenotypes and genetics of DiGeorge syndrome

N Funato - Journal of Developmental Biology, 2022 - mdpi.com
The 22q11. 2 deletion is one of the most common genetic microdeletions, affecting
approximately 1 in 4000 live births in humans. A 1.5 to 2.5 Mb hemizygous deletion of …

[HTML][HTML] Genetic and genomics in congenital heart disease: a clinical review

A Saliba, ACV Figueiredo, JE Baroneza, JY Afiune… - Jornal de …, 2020 - SciELO Brasil
Objective: Discuss evidence referring to the genetic role in congenital heart diseases,
whether chromosomic alterations or monogenic diseases. Data source: LILACS, PubMed …

Cardiogenesis impairment promoted by bisphenol A exposure is successfully counteracted by epigallocatechin gallate

M Lombó, S González-Rojo, C Fernández-Díez… - Environmental …, 2019 - Elsevier
Exposure to the emerging contaminant bisphenol A (BPA) is ubiquitous and associated with
cardiovascular disorders. BPA effect as endocrine disruptor is widely known but other …

Mending a broken heart: In vitro, in vivo and in silico models of congenital heart disease

AJ Rufaihah, CK Chen, CH Yap… - Disease Models & …, 2021 - journals.biologists.com
Birth defects contribute to∼ 0.3% of global infant mortality in the first month of life, and
congenital heart disease (CHD) is the most common birth defect among newborns …