Abstract
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder, classified as an autism spectrum disorder that is caused by the haploinsufficiency of Transcription Factor 4 (TCF4). The most common non-neurological symptoms in PTHS patients are gastrointestinal (GI) disturbances, mainly gastroesophageal reflux and severe constipation (in about 30 and 75% of PTHS patients, respectively). We hypothesized that the recently recognized mouse model of PTHS will exhibit problems with their gut function. We conducted series of in vivo tests on 15- to 19- week old male mice, heterozygous for the TCF4 functional deletion, mimicking the TCF4 haploinsufficiency in PTHS patients, and their wild type littermates. Data collection and initial analysis were performed blindly, that is, the genotyping key was received after the mean values were calculated for each individual animal, and then mean/median of each group was subsequently calculated. Body weight, fecal pellet output, and fluid content were similar between the groups, indicating normal gross growth of PTHS mice and their overall physiological GI motility and intestinal secretion/absorption. There were no significant differences in gut length and gross appearance pointing out that PTHS mi...Continue Reading
References
Feb 1, 1978·Gut·J B WymanA C Wicks
Apr 25, 1996·The New England Journal of Medicine·R K Goyal, I Hirano
Jun 1, 1996·Molecular and Cellular Biology·Y ZhuangH Weintraub
Feb 1, 1997·British Journal of Pharmacology·B Y De WinterP A Pelckmans
Feb 7, 1998·Proceedings of the National Academy of Sciences of the United States of America·R ZakharyS H Snyder
Dec 28, 1999·Molecular and Cellular Biology·M E Massari, C Murre
Apr 17, 2007·American Journal of Human Genetics·Jeanne AmielLaurence Colleaux
Apr 17, 2007·American Journal of Human Genetics·Christiane ZweierAnita Rauch
Apr 28, 2007·Journal of Gastroenterology·Yukiomi NakadeToku Takahashi
May 5, 2007·Human Molecular Genetics·Antje BrockschmidtRuthild G Weber
Sep 20, 2007·Proceedings of the National Academy of Sciences of the United States of America·Adriano FloraHuda Y Zoghbi
Sep 5, 2009·The Journal of Clinical Investigation·Maria Rescigno, Antonio Di Sabatino
Sep 11, 2009·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Hui FuCharles D Stiles
Nov 26, 2010·World Journal of Gastroenterology : WJG·Benedicte-Y De Winter, Joris-G De Man
Nov 3, 2011·Human Mutation·Sandra WhalenIrina Giurgea
Mar 7, 2012·Molecular and Cellular Biology·Johan H van EsHans Clevers
May 4, 2013·Experimental & Molecular Medicine·J David Sweatt
Sep 24, 2013·PloS One·Marc P ForrestDerek J Blake
Sep 28, 2013·Advances in Immunology·Kenneth M Murphy
Nov 12, 2013·Gastroenterology·Jonathon McClainBrian D Gulbransen
Citations
Mar 15, 2016·Neuron·Matthew D RannalsBrady J Maher
Dec 23, 2015·Cellular and Molecular Gastroenterology and Hepatology·Jonathon L McClainBrian D Gulbransen
Aug 9, 2015·American Journal of Clinical Dermatology·Lucia BilleciSebastiano Gangemi
Jul 21, 2016·Nature Reviews. Gastroenterology & Hepatology·Meenakshi Rao, Michael D Gershon
Aug 30, 2016·Cell Reports·Andrew J KennedyJ David Sweatt
Jan 11, 2018·Journal of Child Neurology·Kimberly GoodspeedSailaja Golla
Mar 29, 2018·Molecular Autism·Matthias JungD Chichung Lie
Nov 1, 2018·Annual Review of Physiology·Sabine SchneiderRobert O Heuckeroth
Jan 25, 2019·Clinical Genetics·Marcella ZollinoRaoul C Hennekam
Mar 3, 2017·Case Reports in Pediatrics·Alessandro AquinoStefano Uberti
Feb 9, 2017·Glia·Vladimir Grubišić, Vladimir Parpura
Mar 1, 2017·Current Genetic Medicine Reports·Matthew D Rannals, Brady J Maher
May 29, 2020·Molecular Psychiatry·Beate Niesler, Gudrun A Rappold
Oct 26, 2016·Molecular Psychiatry·W LiA P Xiang
Sep 8, 2017·Molecular Neuropsychiatry·Krista M HennigStephen J Haggarty
Feb 9, 2019·Molecular Autism·David M JamesJulia E Dallman
Dec 17, 2020·International Journal of Molecular Sciences·Ji Eun KimDae Youn Hwang
Dec 1, 2021·MSystems·Amanda H DilmoreRob Knight