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 …
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 …
described in association with deletions and translocations involving human chromosome …
Role of TBX1 in human del22q11. 2 syndrome
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 …
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 …
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 …
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
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 …
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 …
(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 …
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 …
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 …
mesenchyme are necessary for normal pharyngeal arch development. Disruption of …