Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations
DiGeorge syndrome (DGS) is a congenital disease causing cardiac outflow tract anomalies,
craniofacial dysmorphogenesis, thymus hypoplasia, and mental disorders. It results from …
craniofacial dysmorphogenesis, thymus hypoplasia, and mental disorders. It results from …
[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 …
approximately 1 in 4000 live births in humans. A 1.5 to 2.5 Mb hemizygous deletion of …
SDF1-CXCR4 signaling: A new player involved in DiGeorge/22q11-deletion syndrome
ABSTRACT The DiGeorge/22q11-deletion syndrome (22q11DS), also known as
velocardiofacial syndrome, is a congenital disease causing numerous structural and …
velocardiofacial syndrome, is a congenital disease causing numerous structural and …
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 …
β-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1
DiGeorge syndrome (DGS) is a common genetic disease characterized by pharyngeal
apparatus malformations and defects in cardiovascular, craniofacial and glandular …
apparatus malformations and defects in cardiovascular, craniofacial and glandular …
Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways
F Vitelli, M Morishima, I Taddei… - Human molecular …, 2002 - academic.oup.com
TBX1 is the major candidate gene for DiGeorge syndrome (DGS). Mouse studies have
shown that the Tbx1 gene is haploinsufficient, as expected for a DGS candidate gene, and …
shown that the Tbx1 gene is haploinsufficient, as expected for a DGS candidate gene, and …
The zebrafish van gogh mutation disrupts tbx1, which is involved in the DiGeorge deletion syndrome in humans
The van gogh (vgo) mutant in zebrafish is characterized by defects in the ear, pharyngeal
arches and associated structures such as the thymus. We show that vgo is caused by a …
arches and associated structures such as the thymus. We show that vgo is caused by a …
Inactivation of TGFβ signaling in neural crest stem cells leads to multiple defects reminiscent of DiGeorge syndrome
Specific inactivation of TGFβ signaling in neural crest stem cells (NCSCs) results in
cardiovascular defects and thymic, parathyroid, and craniofacial anomalies. All these …
cardiovascular defects and thymic, parathyroid, and craniofacial anomalies. All these …
The role of neural crest during cardiac development in a mouse model of DiGeorge syndrome
L Kochilas, S Merscher-Gomez, MM Lu, V Potluri… - Developmental …, 2002 - Elsevier
The velo-cardio-facial syndrome (VCFS)/DiGeorge syndrome (DGS) is a genetic disorder
characterized by phenotypic abnormalities of the derivatives of the pharyngeal arches …
characterized by phenotypic abnormalities of the derivatives of the pharyngeal arches …
DiGeorge syndrome and pharyngeal apparatus development
DiGeorge syndrome is the most frequent microdeletion syndrome in humans, and is
characterized by cardiovascular, thymic and parathyroid, and craniofacial anomalies. The …
characterized by cardiovascular, thymic and parathyroid, and craniofacial anomalies. The …