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Hirschsprung disease, associated syndromes and genetics: a review
Isolated HSCR appears to be a non-Mendelian malformation with low, sex-dependent penetrance, and variable expression according to the length of the aganglionic segment, which stands as a model for genetic disorders with complex patterns of inheritance.
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model.
Pathways systematically associated to Hirschsprung’s disease
The Pathway-Based Analysis (PBA) confirms a strong association of gene ontology (GO) modules related to signal transduction and its regulation, enteric nervous system (ENS) formation and other processes related to the disease, and network analysis recovers sub-networks significantly associated to the crime, thus providing an independent validation of these findings.
A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patients.
- A. Sanchez-Mejias, R. Fernández, G. Antiñolo, S. Borrego
- BiologyExperimental and therapeutic medicine
- 1 November 2010
It is proposed that INDB may alternatively arise as a consequence of gain of function mutations in genes related to enteric nervous system development, and the use of different molecular approaches, such as screening for genetic duplication or enhancer mutations, is recommended for future studies on the genetic basis of INDB.
Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients
- B. Luzón-Toro, L. Espino-Paisán, R. Fernández, M. Martín-Sánchez, G. Antiñolo, S. Borrego
- Medicine, PsychologyBMC Medical Genetics
- 5 October 2015
The authors' validated NGS panel constitutes an optimum method for the identification of new variants in patients and could be used for a fast, reliable and more thorough genetic screening in future series of patients.
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease
It is shown that a differential reproductive rate for males and females also leads to an asymmetrical parental origin, which was never considered as a possible explanation for this parental asymmetry until now.
Higher prevalence of Hirschsprung disease in China explained by a common RET mutation
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
A trans-ethnic meta-analysis of 507 HSCR cases and 1191 controls is presented, combining all published GWAS results to fine-map these loci and narrow down the putatively causal variants to 99% credible sets and demonstrates that the effects of RET and NRG1 are universal across European and Asian ancestries.