A Sox10-GFP mutant mouse model for the study of abnormal enteric nervous system development in Hirschsprung disease

2010 ◽  
Author(s):  
Mei Zhang
Keyword(s):  
Nervous System ◽  
Mouse Model ◽  
Enteric Nervous System ◽  
Mutant Mouse ◽  
System Development ◽  
Hirschsprung Disease ◽  
Nervous System Development ◽  
Enteric Nervous System Development

NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease

2008 ◽  
Vol 43 (7) ◽  
pp. 1308-1311 ◽  
Author(s):  
Macarena Ruiz-Ferrer ◽  
Raquel M. Fernandez ◽  
Guillermo Antiñolo ◽  
Manuel Lopez-Alonso ◽  
Salud Borrego
Keyword(s):  
Nervous System ◽  
Enteric Nervous System ◽  
Candidate Gene ◽  
System Development ◽  
Hirschsprung Disease ◽  
Nervous System Development ◽  
Enteric Nervous System Development

Identification of GLI Mutations in Patients With Hirschsprung Disease That Disrupt Enteric Nervous System Development in Mice

2015 ◽  
Vol 149 (7) ◽  
pp. 1837-1848.e5 ◽  
Author(s):  
Jessica Ai-Jia Liu ◽  
Frank Pui-Ling Lai ◽  
Hong-Sheng Gui ◽  
Mai-Har Sham ◽  
Paul Kwong-Hang Tam ◽  
...  
Keyword(s):  
Nervous System ◽  
Enteric Nervous System ◽  
System Development ◽  
Hirschsprung Disease ◽  
Nervous System Development ◽  
Enteric Nervous System Development

scholarly journals Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Leticia Villalba-Benito ◽  
Ana Torroglosa ◽  
Raquel María Fernández ◽  
Macarena Ruíz-Ferrer ◽  
María José Moya-Jiménez ◽  
...  
Keyword(s):  
Nervous System ◽  
Enteric Nervous System ◽  
Target Genes ◽  
System Development ◽  
Hirschsprung Disease ◽  
Nervous System Development ◽  
Enteric Nervous System Development

scholarly journals Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development

PLoS Genetics ◽  
2021 ◽  
Vol 17 (8) ◽  
pp. e1009698
Author(s):  
Laura E. Kuil ◽  
Katherine C. MacKenzie ◽  
Clara S. Tang ◽  
Jonathan D. Windster ◽  
Thuy Linh Le ◽  
...  
Keyword(s):  
Nervous System ◽  
Enteric Nervous System ◽  
Copy Number ◽  
System Development ◽  
Hirschsprung Disease ◽  
Nervous System Development ◽  
Gene Enrichment ◽  
Coding Variants ◽  
Enteric Nervous System Development

Hirschsprung disease (HSCR) is a complex genetic disease characterized by absence of ganglia in the intestine. HSCR etiology can be explained by a unique combination of genetic alterations: rare coding variants, predisposing haplotypes and Copy Number Variation (CNV). Approximately 18% of patients have additional anatomical malformations or neurological symptoms (HSCR-AAM). Pinpointing the responsible culprits within a CNV is challenging as often many genes are affected. Therefore, we selected candidate genes based on gene enrichment strategies using mouse enteric nervous system transcriptomes and constraint metrics. Next, we used a zebrafish model to investigate whether loss of these genes affects enteric neuron development in vivo. This study included three groups of patients, two groups without coding variants in disease associated genes: HSCR-AAM and HSCR patients without associated anomalies (HSCR-isolated). The third group consisted of all HSCR patients in which a confirmed pathogenic rare coding variant was identified. We compared these patient groups to unaffected controls. Predisposing haplotypes were determined, confirming that every HSCR subgroup had increased contributions of predisposing haplotypes, but their contribution was highest in isolated HSCR patients without RET coding variants. CNV profiling proved that specifically HSCR-AAM patients had larger Copy Number (CN) losses. Gene enrichment strategies using mouse enteric nervous system transcriptomes and constraint metrics were used to determine plausible candidate genes located within CN losses. Validation in zebrafish using CRISPR/Cas9 targeting confirmed the contribution of UFD1L, TBX2, SLC8A1, and MAPK8 to ENS development. In addition, we revealed epistasis between reduced Ret and Gnl1 expression and between reduced Ret and Tubb5 expression in vivo. Rare large CN losses—often de novo—contribute to HSCR in HSCR-AAM patients. We proved the involvement of six genes in enteric nervous system development and Hirschsprung disease.

scholarly journals Dnmt3b knock-down in enteric precursors reveals a possible mechanism by which this de novo methyltransferase is involved in the enteric nervous system development and the onset of Hirschsprung disease

Oncotarget ◽  
2017 ◽  
Vol 8 (63) ◽  
pp. 106443-106453 ◽  
Author(s):  
Ana Torroglosa ◽  
Leticia Villalba-Benito ◽  
Raquel María Fernández ◽  
María José Moya-Jiménez ◽  
Guillermo Antiñolo ◽  
...  
Keyword(s):  
Nervous System ◽  
Enteric Nervous System ◽  
De Novo ◽  
System Development ◽  
Hirschsprung Disease ◽  
Nervous System Development ◽  
Knock Down ◽  
Enteric Nervous System Development

scholarly journals Changes in Nicotinic Neurotransmission during Enteric Nervous System Development

2015 ◽  
Vol 35 (18) ◽  
pp. 7106-7115 ◽  
Author(s):  
J. P. P. Foong ◽  
C. S. Hirst ◽  
M. M. Hao ◽  
S. J. McKeown ◽  
W. Boesmans ◽  
...  
Keyword(s):  
Nervous System ◽  
Enteric Nervous System ◽  
System Development ◽  
Nervous System Development ◽  
Enteric Nervous System Development

scholarly journals Testing the Ret and Sema3d genetic interaction in mouse enteric nervous system development

2017 ◽  
Vol 26 (10) ◽  
pp. 1811-1820 ◽  
Author(s):  
Ashish Kapoor ◽  
Dallas R. Auer ◽  
Dongwon Lee ◽  
Sumantra Chatterjee ◽  
Aravinda Chakravarti
Keyword(s):  
Nervous System ◽  
Enteric Nervous System ◽  
Genetic Interaction ◽  
System Development ◽  
Nervous System Development ◽  
Enteric Nervous System Development
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