Neural development, cell-cell signaling, and the “two-hit” hypothesis of schizophrenia

TM Maynard, L Sikich, JA Lieberman… - Schizophrenia …, 2001 - academic.oup.com
To account for the complex genetics, the developmental biology, and the late
adolescent/early adulthood onset of schizophrenia, the “two-hit” hypothesis has gained …

The 22q11 deletion syndromes

PJ Scambler - Human molecular genetics, 2000 - academic.oup.com
DiGeorge syndrome, velocardiofacial syndrome and various other malformations have been
described in association with deletions and translocations involving human chromosome …

Role of TBX1 in human del22q11. 2 syndrome

H Yagi, Y Furutani, H Hamada, T Sasaki, S Asakawa… - The Lancet, 2003 - thelancet.com
Summary Background Del22q11. 2 syndrome is the most frequent known chromosomal
microdeletion syndrome, with an incidence of 1 in 4000–5000 livebirths. It is characterised …

Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice

EA Lindsay, F Vitelli, H Su, M Morishima, T Huynh… - Nature, 2001 - nature.com
DiGeorge syndrome is characterized by cardiovascular, thymus and parathyroid defects and
craniofacial anomalies, and is usually caused by a heterozygous deletion of chromosomal …

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

IM Campbell, SE Sheppard, TB Crowley… - American Journal of …, 2018 - Wiley Online Library
22q11. 2 deletion syndrome (22q11. 2DS) is a disorder caused by recurrent, chromosome‐
specific, low copy repeat (LCR)–mediated copy‐number losses of chromosome 22q11. The …

Visualizing the generation of memory CD4 T cells in the whole body

RL Reinhardt, A Khoruts, R Merica, T Zell, MK Jenkins - Nature, 2001 - nature.com
It is thought that immunity depends on naïve CD4 T cells that proliferate in response to
microbial antigens,,,, differentiate into memory cells that produce anti-microbial …

Chromosome 22-specific low copy repeats and the 22q11. 2 deletion syndrome: genomic organization and deletion endpoint analysis

TH Shaikh, H Kurahashi, SC Saitta… - Human molecular …, 2000 - academic.oup.com
The 22q11. 2 deletion syndrome, which includes DiGeorge and velocardiofacial syndromes
(DGS/VCFS), is the most common microdeletion syndrome. The majority of deleted patients …

The neural crest in cardiac congenital anomalies

A Keyte, MR Hutson - Differentiation, 2012 - Elsevier
This review discusses the function of neural crest as they relate to cardiovascular defects.
The cardiac neural crest cells are a subpopulation of cranial neural crest discovered nearly …

[HTML][HTML] 22q11. 2 Deletion Syndrome

DM McDonald-McGinn, HS Hain, BS Emanuel… - 2020 - europepmc.org
Individuals with 22q11. 2 deletion syndrome (22q11. 2DS) can present with a wide range of
features that are highly variable, even within families. The major clinical manifestations of …

Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development

V Garg, C Yamagishi, T Hu, IS Kathiriya… - Developmental …, 2001 - Elsevier
Appropriate interactions between the epithelium and adjacent neural crest-derived
mesenchyme are necessary for normal pharyngeal arch development. Disruption of …