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TRENDS IN MOLECULAR MEDICINE

Molecular mechanisms of RET‐induced Hirschsprung pathogenesis

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Pages 11-19 | Published online: 08 Jul 2009

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Pia Runeberg‐Roos & Mart Saarma. (2007) Neurotrophic factor receptor RET: structure, cell biology, and inherited diseases. Annals of Medicine 39:8, pages 572-580.
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Wei Wu, Li Lu, Weijue Xu, Jiangbin Liu, Jun Sun, Lulu Zheng, Qingfeng Sheng & Zhibao Lv. (2019) Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease. Frontiers in Genetics 9.
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Tiffany A. Heanue & Alan J. Burns. 2017. Pediatric Neurogastroenterology. Pediatric Neurogastroenterology 9 19 .
DONG CHEN, JIE MI, DONG-HUI FU, WEI-LIN WANG & HONG GAO. (2015) Expression patterns of dishevelled-2 in different colon tissue segments in Hirschsprung’s disease. Molecular Medicine Reports 11:3, pages 2092-2096.
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Sam W. Moore & Monique Zaahl. (2015) Clinical and genetic correlations of familial Hirschsprung?s disease. Journal of Pediatric Surgery 50:2, pages 285-288.
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Chun-mei Liang, Dong-mei Ji, Xu Yuan, Ling-ling Ren, Juan Shen & Hai-yan Zhang. (2014) RET and PHOX2B Genetic Polymorphisms and Hirschsprung's Disease Susceptibility: A Meta-Analysis. PLoS ONE 9:3, pages e90091.
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Sam W. Moore & Monique G. Zaahl. (2014) Tissue specific somatic mutations and aganglionosis in Hirschsprung's disease. Journal of Pediatric Surgery 49:2, pages 258-261.
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Jonathan M. Gisser, Ariella R. Cohen, Han Yin & Cheryl E. Gariepy. (2013) A Novel Bidirectional Interaction between endothelin-3 and Retinoic Acid in Rat Enteric Nervous System Precursors. PLoS ONE 8:9, pages e74311.
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Hong Gao. (2013) Polymorphisms and expression of the WNT8A gene in Hirschsprung's disease. International Journal of Molecular Medicine.
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Weibing Tang, Bo Li, Junwei Tang, Kang Liu, Jingjing Qin, Wei Wu, Qiming Geng, Jie Zhang, Huan Chen, Xiaoqun Xu & Yankai Xia. (2013) Methylation analysis of EDNRB in human colon tissues of Hirschsprung’s disease. Pediatric Surgery International 29:7, pages 683-688.
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S. R. Galan & P. H. Kann. (2013) Genetics and molecular pathogenesis of pheochromocytoma and paraganglioma. Clinical Endocrinology 78:2, pages 165-175.
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Tiffany A. Heanue & Alan J. Burns. 2013. Pediatric Neurogastroenterology. Pediatric Neurogastroenterology 9 21 .
Samuel W. Moore. (2012) Total colonic aganglionosis in Hirschsprung disease. Seminars in Pediatric Surgery 21:4, pages 302-309.
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S. W. Moore. (2012) Chromosomal and related Mendelian Syndromes associated with Hirschsprung’s disease. Pediatric Surgery International 28:11, pages 1045-1058.
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Emanuele Panza, Charles H. Knowles, Claudio Graziano, Nikhil Thapar, Alan J. Burns, Marco Seri, Vincenzo Stanghellini & Roberto De Giorgio. (2012) Genetics of human enteric neuropathies. Progress in Neurobiology 96:2, pages 176-189.
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Lucy J. Freem, Sophie Escot, David Tannahill, Noah R. Druckenbrod, Nikhil Thapar & Alan J. Burns. (2010) The intrinsic innervation of the lung is derived from neural crest cells as shown by optical projection tomography in Wnt1‐Cre;YFP reporter mice . Journal of Anatomy 217:6, pages 651-664.
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Sara Molatore & Natalia S. Pellegata. 2010. Neuroendocrinology - Pathological Situations and Diseases. Neuroendocrinology - Pathological Situations and Diseases 295 320 .
Eliska Vaclavikova, Sarka Dvorakova, Vlasta Sykorova, Radovan Bilek, Katerina Dvorakova, Petr Vlcek, Richard Skaba, Tomas Zelinka & Bela Bendlova. (2009) RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest. Endocrine 36:3, pages 419-424.
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Sam W. Moore. (2009) Total colonic aganglionosis and Hirschsprung’s disease: shades of the same or different?. Pediatric Surgery International 25:8, pages 659-666.
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Paola Griseri, Yvonne Vos, Roberto Giorda, Stefania Gimelli, Silvana Beri, Giuseppe Santamaria, Guendalina Mognato, Robert M W Hofstra, Giorgio Gimelli & Isabella Ceccherini. (2008) Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11). European Journal of Human Genetics 17:4, pages 483-490.
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Maria-Mercè Garcia-Barceló, Pui-yee Fong, Clara S Tang, Xiao-ping Miao, Man-ting So, Zhen-wei Yuan, Long Li, Wei-hong Guo, Lei Liu, Bin Wang, Xiao-bing Sun, Liu-ming Huang, Jin-fa Tou, Kenneth Kak-yuen Wong, Elly Sau-wai Ngan, Vincent Chi-hang Lui, Stacey S Cherny, Pak-chung Sham & Paul Kwong-hang Tam. (2008) Mapping of a Hirschsprung's disease locus in 3p21. European Journal of Human Genetics 16:7, pages 833-840.
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Alan J. Burns, Nikhil Thapar & Amanda J. Barlow. (2008) Development of the Neural Crest–Derived Intrinsic Innervation of the Human Lung. American Journal of Respiratory Cell and Molecular Biology 38:3, pages 269-275.
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Sam W. Moore .. (2008) Do RET and APC Crosstalk in Hirschsprungs Disease Pathogenesis?. Trends in Medical Research 3:1, pages 31-35.
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e. rossi, v. villanacci, s. fisogni, a. morelli, b. salerni, p. grigolato & g. bassotti. (2007) Chromosomal study of enteric glial cells and neurons by fluorescence in situ hybridization in slow transit constipation. Neurogastroenterology & Motility 19:7, pages 578-584.
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Barbara R. Pober. (2007) Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 145C:2, pages 158-171.
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Francesca Lantieri, Halfdan Rydbeck, Paola Griseri, Isabella Ceccherini & Marcella Devoto. (2007) Incorporating prior biological information in linkage studies increases power and limits multiple testing. BMC Proceedings 1:Suppl 1, pages S89.
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Stephen J. Peroutka. 2007. Molecular Neurology. Molecular Neurology 321 332 .
Bhupinder P.S. Vohra, William Planer, Jennifer Armon, Ming Fu, Sanjay Jain & Robert O. Heuckeroth. (2007) Reduced endothelin converting enzyme-1 and endothelin-3 mRNA in the developing bowel of male mice may increase expressivity and penetrance of Hirschsprung disease–like distal intestinal aganglionosis. Developmental Dynamics 236:1, pages 106-117.
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Richard Škába, Šárka Dvořáková, Eliška Václavíková, Petr Vlček, Miroslava Frantlová & Běla Bendlová. (2006) The risk of medullary thyroid carcinoma in patients with Hirschsprung's disease. Pediatric Surgery International 22:12, pages 991-995.
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Sam W Moore. (2006) Down syndrome and Hirschsprung's disease: A significant relationship?. International Journal on Disability and Human Development 5:4.
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