Abnormalities in lymphocyte populations in infants with neural crest cardiovascular defects

1996 ◽  
Vol 17 (3) ◽  
pp. 143-149 ◽  
Author(s):  
D. K. Rhoden ◽  
L. Leatherbury ◽  
S. Helman ◽  
M. Gaffney ◽  
W. B. Strong ◽  
...  
Keyword(s):  
Neural Crest ◽  
Cardiovascular Defects ◽  
Lymphocyte Populations

Abnormalities in Lymphocyte Populations in Infants with Neural Crest Cardiovascular Defects

1996 ◽  
Vol 17 (3) ◽  
pp. 143-149 ◽  
Author(s):  
D.K. Rhoden ◽  
L. Leatherbury ◽  
S. Helman ◽  
M. Gaffney ◽  
W.B. Strong ◽  
...  
Keyword(s):  
Neural Crest ◽  
Cardiovascular Defects ◽  
Lymphocyte Populations

scholarly journals Trigenic neural crest-restricted Smad7 over-expression results in congenital craniofacial and cardiovascular defects

2010 ◽  
Vol 344 (1) ◽  
pp. 233-247 ◽  
Author(s):  
Sunyong Tang ◽  
Paige Snider ◽  
Antony B. Firulli ◽  
Simon J. Conway
Keyword(s):  
Neural Crest ◽  
Over Expression ◽  
Cardiovascular Defects

scholarly journals Targeted disruption of semaphorin 3C leads to persistent truncus arteriosus and aortic arch interruption

Development ◽  
2001 ◽  
Vol 128 (16) ◽  
pp. 3061-3070 ◽  
Author(s):  
Leonard Feiner ◽  
Andrea L. Webber ◽  
Christopher B. Brown ◽  
Min Min Lu ◽  
Li Jia ◽  
...  
Keyword(s):  
Neural Crest ◽  
Aortic Arch ◽  
Heart Defects ◽  
Outflow Tract ◽  
Targeted Mutagenesis ◽  
Mutant Mice ◽  
Persistent Truncus Arteriosus ◽  
Cardiovascular Defects ◽  
Cardiac Outflow

Semaphorin 3C is a secreted member of the semaphorin gene family. To investigate its function in vivo, we have disrupted the semaphorin 3Clocus in mice by targeted mutagenesis. semaphorin 3C mutant mice die within hours after birth from congenital cardiovascular defects consisting of interruption of the aortic arch and improper septation of the cardiac outflow tract. This phenotype is similar to that reported following ablation of the cardiac neural crest in chick embryos and resembles congenital heart defects seen in humans. Semaphorin 3C is expressed in the cardiac outflow tract as neural crest cells migrate into it. Their entry is disrupted in semaphorin 3C mutant mice. These data suggest that semaphorin 3C promotes crest cell migration into the proximal cardiac outflow tract.

Temporal–spatial ablation of neural crest in the mouse results in cardiovascular defects

2007 ◽  
Vol 237 (1) ◽  
pp. 153-162 ◽  
Author(s):  
Diego Porras ◽  
Christopher B. Brown
Keyword(s):  
Neural Crest ◽  
Cardiovascular Defects

scholarly journals Msx1 haploinsufficiency modifies the Pax9-deficient cardiovascular phenotype

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ramada R. Khasawneh ◽  
Ralf Kist ◽  
Rachel Queen ◽  
Rafiqul Hussain ◽  
Jonathan Coxhead ◽  
...  
Keyword(s):  
Neural Crest ◽  
Aortic Arch ◽  
Thyroid Cartilage ◽  
Neural Crest Cell ◽  
Pharyngeal Arch ◽  
Palate Development ◽  
The Third ◽  
Pharyngeal Endoderm ◽  
Cardiovascular Defects ◽  
Crest Cell

Abstract Background Successful embryogenesis relies on the coordinated interaction between genes and tissues. The transcription factors Pax9 and Msx1 genetically interact during mouse craniofacial morphogenesis, and mice deficient for either gene display abnormal tooth and palate development. Pax9 is expressed specifically in the pharyngeal endoderm at mid-embryogenesis, and mice deficient for Pax9 on a C57Bl/6 genetic background also have cardiovascular defects affecting the outflow tract and aortic arch arteries giving double-outlet right ventricle, absent common carotid arteries and interruption of the aortic arch. Results In this study we have investigated both the effect of a different genetic background and Msx1 haploinsufficiency on the presentation of the Pax9-deficient cardiovascular phenotype. Compared to mice on a C57Bl/6 background, congenic CD1-Pax9–/– mice displayed a significantly reduced incidence of outflow tract defects but aortic arch defects were unchanged. Pax9–/– mice with Msx1 haploinsufficiency, however, have a reduced incidence of interrupted aortic arch, but more cases with cervical origins of the right subclavian artery and aortic arch, than seen in Pax9–/– mice. This alteration in arch artery defects was accompanied by a rescue in third pharyngeal arch neural crest cell migration and smooth muscle cell coverage of the third pharyngeal arch arteries. Although this change in phenotype could theoretically be compatible with post-natal survival, using tissue-specific inactivation of Pax9 to maintain correct palate development whilst inducing the cardiovascular defects was unable to prevent postnatal death in the mutant mice. Hyoid bone and thyroid cartilage formation were abnormal in Pax9–/– mice. Conclusions Msx1 haploinsufficiency mitigates the arch artery defects in Pax9–/– mice, potentially by maintaining the survival of the 3rd arch artery through unimpaired migration of neural crest cells to the third pharyngeal arches. With the neural crest cell derived hyoid bone and thyroid cartilage also being defective in Pax9–/– mice, we speculate that the pharyngeal endoderm is a key signalling centre that impacts on neural crest cell behaviour highlighting the ability of cells in different tissues to act synergistically or antagonistically during embryo development.

scholarly journals Msx1 Haploinsufficiency Modifies the Pax9-Deficient Cardiovascular Phenotype

2021 ◽  
Author(s):  
Ramada R. Khasawneh ◽  
Ralf Kist ◽  
Jürgen E Schneider ◽  
Timothy J Mohun ◽  
Heiko Peters ◽  
...  
Keyword(s):  
Neural Crest ◽  
Aortic Arch ◽  
Thyroid Cartilage ◽  
Neural Crest Cell ◽  
Pharyngeal Arch ◽  
Palate Development ◽  
The Third ◽  
Pharyngeal Endoderm ◽  
Cardiovascular Defects ◽  
Crest Cell

Abstract Background Successful embryogenesis relies on the coordinated interaction between genes and tissues. The transcription factors Pax9 and Msx1 genetically interact during mouse craniofacial morphogenesis, and mice deficient for either gene display abnormal tooth and palate development. Pax9 is expressed specifically in the pharyngeal endoderm at mid-embryogenesis, and mice deficient for Pax9 on a C57Bl/6 genetic background also have cardiovascular defects affecting the outflow tract and aortic arch arteries giving double-outlet right ventricle, absent common carotid arteries and interruption of the aortic arch. Results In this study we have investigated both the effect of a different genetic background and Msx1 haploinsufficiency on the presentation of the Pax9-deficient cardiovascular phenotype. Compared to mice on a C57Bl/6 background, congenic CD1-Pax9−/− mice displayed a significantly reduced incidence of outflow tract defects but aortic arch defects were unchanged. Pax9−/− mice with Msx1 haploinsufficiency, however, have a reduced incidence of interrupted aortic arch, but more cases with cervical origins of the right subclavian artery and aortic arch, than seen in Pax9−/− mice. This alteration in arch artery defects was accompanied by a rescue in third pharyngeal arch neural crest cell migration and smooth muscle cell coverage of the third pharyngeal arch arteries. Although this change in phenotype could theoretically be compatible with post-natal survival, using tissue-specific inactivation of Pax9 to maintain correct palate development whilst inducing the cardiovascular defects was unable to prevent postnatal death in the mutant mice. Hyoid bone and thyroid cartilage formation were abnormal in Pax9−/− mice. Conclusions Msx1 haploinsufficiency mitigates the arch artery defects in Pax9−/− mice, potentially by maintaining the survival of the 3rd arch artery through unimpaired migration of neural crest cells to the third pharyngeal arches. With the neural crest cell derived hyoid bone and thyroid cartilage also being defective in Pax9−/− mice, we speculate that the pharyngeal endoderm is a key signalling centre that impacts on neural crest cell behaviour highlighting the ability of cells in different tissues to act synergistically or antagonistically during embryo development.

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