Pitt-Hopkins mouse model has altered particular gastrointestinal transits in vivo

Autism Research

Volumn 8, Issue 5, 2015, Pages 629-633

  Grubišić, Vladimir ^a   Kennedy, Andrew J ^a   Sweatt, J David ^a   Parpura, Vladimir ^a,b  

^a University of Alabama at Birmingham   (United States)

^b University of Rijeka   (Croatia)

Author keywords

E2 2; Gut transit; ITF2; PTHS mouse model; TCF4

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR 4; UNCLASSIFIED DRUG;

ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; DESCENDING COLON; DEVELOPMENTAL DISORDER; FUNCTIONAL ASSESSMENT; GASTROINTESTINAL MOTILITY; GASTROINTESTINAL TRACT FUNCTION; GASTROINTESTINAL TRANSIT; GENOTYPE; HAPLOINSUFFICIENCY; HETEROZYGOSITY; HOMOZYGOSITY; IN VIVO STUDY; INTESTINAL SECRETION; INTESTINE ABSORPTION; MALE; MOUSE; NEUROLOGIC DISEASE; NONHUMAN; PITT HOPKINS SYNDROME; PRIORITY JOURNAL; ANIMAL; DISEASE MODEL; FACIES; HYPERVENTILATION; INTELLECTUAL IMPAIRMENT; KNOCKOUT MOUSE; PATHOPHYSIOLOGY; PHYSIOLOGY;

ANIMALS; DISEASE MODELS, ANIMAL; FACIES; GASTROINTESTINAL TRANSIT; HYPERVENTILATION; INTELLECTUAL DISABILITY; MALE; MICE; MICE, KNOCKOUT;

EID: 84945494762     PISSN: 19393792     EISSN: 19393806     Source Type: Journal    
DOI: 10.1002/aur.1467     Document Type: Article

References (22)

1. Amiel, J., Rio, M., de Pontual, L., Redon, R., Malan, V., Boddaert, N., et al. (2007). Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. American Journal of Human Genetics, 80, 988-993.
2. Brockschmidt, A., Todt, U., Ryu, S., Hoischen, A., Landwehr, C., Birnbaum, S., et al. (2007). Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. Human Molecular Genetics 16, 1488-1494.
3. De Winter, B.Y., Boeckxstaens, G.E., De Man, J.G., Moreels, T.G., Herman, A.G., & Pelckmans, P.A. (1997). Effect of adrenergic and nitrergic blockade on experimental ileus in rats. British Journal of Pharmacology, 120, 464-468.
4. De Winter, B.Y., & De Man, J.G. (2010). Interplay between inflammation, immune system and neuronal pathways: Effect on gastrointestinal motility. World Journal of Gastroenterology, 16, 5523-5535.
5. Flora, A., Garcia, J.J., Thaller, C., & Zoghbi, H.Y. (2007). The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors. Proceedings of the National Academy of Sciences of the United States of America, 104, 15382-15387.
6. Forrest, M.P., Waite, A.J., Martin-Rendon, E., & Blake, D.J. (2013). Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation. PLoS One, 8, e73169.
7. Fu, H., Cai, J., Clevers, H., Fast, E., Gray, S., Greenberg, R., et al. (2009). A genome-wide screen for spatially restricted expression patterns identifies transcription factors that regulate glial development. Journal of Neuroscience, 29, 11399-11408.
8. Goyal, R.K., & Hirano, I. (1996). The enteric nervous system. New England Journal of Medicine, 334, 1106-1115.
9. Massari, M.E., & Murre, C. (2000). Helix-loop-helix proteins: Regulators of transcription in eucaryotic organisms. Molecular and Cellular Biology, 20, 429-440.
10. 2+ responses in enteric glia are mediated by connexin-43 hemichannels and modulate colonic transit in mice. Gastroenterology, 146, 497-507 e491.
11. Murphy, K.M. (2013). Transcriptional control of dendritic cell development. Advances in Immunology, 120, 239-267.
12. Nakade, Y., Mantyh, C., Pappas, T.N., & Takahashi, T. (2007). Fecal pellet output does not always correlate with colonic transit in response to restraint stress and corticotropin-releasing factor in rats. Journal of Gastroenterology, 42, 279-282.
13. Nelms, B.L., & Labosky, P.A. (2010). bHLH Proteins, Chapter 3. In Transcriptional control of neural crest development. San Rafael, CA: Morgan & Claypool Life Sciences.
14. Pitt, D., & Hopkins, I. (1978). A syndrome of mental retardation, wide mouth and intermittent overbreathing. Australian Paediatric Journal, 14, 182-184.
15. Rescigno, M., & Di Sabatino, A. (2009). Dendritic cells in intestinal homeostasis and disease. Journal of Clinical Investigation, 119, 2441-2450.
16. Sweatt, J.D. (2013). Pitt-Hopkins Syndrome: Intellectual disability due to loss of TCF4-regulated gene transcription. Experimental and Molecular Medicine, 45, e21.
17. van Es, J.H., Haegebarth, A., Kujala, P., Itzkovitz, S., Koo, B.K., Boj, S.F., et al. (2012). A critical role for the Wnt effector Tcf4 in adult intestinal homeostatic self-renewal. Molecular and Cellular Biology, 32, 1918-1927.
18. Whalen, S., Heron, D., Gaillon, T., Moldovan, O., Rossi, M., Devillard, F., et al. (2012). Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum. Human Mutation, 33, 64-72.
19. Wyman, J.B., Heaton, K.W., Manning, A.P., & Wicks, A.C. (1978). Variability of colonic function in healthy subjects. Gut, 19, 146-150.
20. Zakhary, R., Poss, K.D., Jaffrey, S.R., Ferris, C.D., Tonegawa, S., & Snyder, S.H. (1997). Targeted gene deletion of heme oxygenase 2 reveals neural role for carbon monoxide. Proceedings of the National Academy of Sciences of the United States of America, 94, 14848-14853.
21. Zhuang, Y., Cheng, P., & Weintraub, H. (1996). B-lymphocyte development is regulated by the combined dosage of three basic helix-loop-helix genes, E2A, E2-2, and HEB. Molecular and Cellular Biology, 16, 2898-2905.
22. Zweier, C., Peippo, M.M., Hoyer, J., Sousa, S., Bottani, A., Clayton-Smith, J., et al. (2007). Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). American Journal of Human Genetics, 80, 994-1001.