Author pages are created from data sourced from our academic publisher partnerships and public sources.
Share This Author
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
- E. Emison, M. Garcia-Barcelo, +22 authors A. Chakravarti
- Biology, Medicine
- American journal of human genetics
- 9 July 2010
The distribution of RET variants in diverse HSCR patients suggests a "cellular-recessive" genetic model where both RET alleles' function is compromised, and the RET allelic series, and its genotype-phenotype correlations, shows that success in variant identification in complex disorders may strongly depend on which patients are studied. Expand
Prokineticin-1 (Prok-1) works coordinately with glial cell line-derived neurotrophic factor (GDNF) to mediate proliferation and differentiation of enteric neural crest cells.
Findings provide evidence that Prok-1 crosstalks with GDNF/Ret signaling and probably provides an additional layer of signaling refinement to maintain proliferation and differentiation of enteric NCCs. Expand
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model.
The genes identified in this congenital malformation are described and it is postulate that both common 'low penetrant' variants in combination with rare or private 'high penetrant" variants determine the risk on HSCR, and likely, on other complex diseases. Expand
Genetic basis of Hirschsprung’s disease
This review will focus on the genes known to be involved in HSCR pathology, how they interact, and on how technology advances are being employed to uncover the pathological processes underlying this disease. Expand
The physiological and patho-physiological roles of prokineticin signaling are just beginning to be revealed and a better understanding of the system should lead to the development of useful therapies for various diseases. Expand
Prokineticin-1 modulates proliferation and differentiation of enteric neural crest cells.
It is the first report demonstrating that Prok-1 acts as a gut mucosa/mesenchyme-derived factor and maintains proliferation and differentiation of enteric NCCs. Expand
Perturbation of hoxb5 signaling in vagal neural crests down-regulates ret leading to intestinal hypoganglionosis in mice.
The data indicate that Ret is a downstream target of Hoxb5 whose perturbation causes Ret haploinsufficiency, impaired NCC migration, and hypo/aganglionosis, suggesting that Hox b5 may contribute to the etiology of Hirschsprung's disease. Expand
Glial-derived neurotrophic factor in human adult and fetal intestine and in Hirschsprung's disease.
GDNF is present in adult and fetal human gut, where it may play a neurotrophic role, and its staining pattern suggests that it is localized in glia or Schwann cells. Expand
Mitochondrial dysfunction contributes to the increased vulnerabilities of adiponectin knockout mice to liver injury
The results suggest that the hepatoprotective properties of adiponectin are mediated at least in part by an enhancement of the activities of MRC complexes through a mechanism involving UCP2. Expand
Implications of Endocrine Gland–Derived Vascular Endothelial Growth Factor/Prokineticin-1 Signaling in Human Neuroblastoma Progression
This study has shown for the first time that aberrant EG-VEGF/Prok-1 signaling favors neuroblastoma progression and could be a potential target for future Neuroblastoma treatment. Expand