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Select item 109438001.

Aberrant SOX10 and RET expressions in patients with Hirschsprung disease

Gunadi, Verrell Christopher Amadeus, Fadila Dyah Trie Utami, Fiqih Vidiantoro Halim, Nabilah Anisa Novebri, Rahaditya Alrasyidi Hanggoro, Avinindita Nura Lestari, Kristy Iskandar, Andi Dwihantoro, Eko Purnomo

BMC Pediatr. 2024; 24: 189. Published online 2024 Mar 16. doi: 10.1186/s12887-024-04682-6

PMCID:: PMC10943800

Abstract Article PDF–1.0M

Select item 109321832.

Mowat–Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions

Caroline St. Peter, Waheeda A. Hossain, Scott Lovell, Syed K. Rafi, Merlin G. Butler

Int J Mol Sci. 2024 Mar; 25(5): 2838. Published online 2024 Feb 29. doi: 10.3390/ijms25052838

PMCID:: PMC10932183

Abstract Article PDF–2.5M

Select item 108869643.

Bioinformatics Prediction for Network-Based Integrative Multi-Omics Expression Data Analysis in Hirschsprung Disease

Helena Lucena-Padros, Nereida Bravo-Gil, Cristina Tous, Elena Rojano, Pedro Seoane-Zonjic, Raquel María Fernández, Juan A. G. Ranea, Guillermo Antiñolo, Salud Borrego

Biomolecules. 2024 Feb; 14(2): 164. Published online 2024 Jan 30. doi: 10.3390/biom14020164

PMCID:: PMC10886964

Abstract Article PDF–2.1M

Select item 108384024.

Microphthalmia and orbital cysts in DiGeorge syndrome

Arthika Chandramohan, Connie Martin Sears, Laura C. Huang, Shannon Beres, Douglas Fredrick, Andrea Lora Kossler

J AAPOS. Author manuscript; available in PMC 2024 Feb 4.

Published in final edited form as: J AAPOS. 2021 Dec; 25(6): 358–360. Published online 2021 Sep 29. doi: 10.1016/j.jaapos.2021.06.001

PMCID:: PMC10838402

Abstract Article PDF–214K

Select item 107190285.

Colostomy Delays Cell Loss in the Brain and Improves Juvenile Survival in a Neonatal Rat Model of Hirschsprung's Disease

Dan Xie, Yitong Du, Yutao Wang, Geoffrey David Hain Croaker, Zheng Zachory Wei, Zan-Min Song

Oxid Med Cell Longev. 2022; 2022: 3792798. Published online 2022 Sep 12. doi: 10.1155/2022/3792798

Retraction in:: Oxid Med Cell Longev. 2023; 2023: 9873027.

PMCID:: PMC10719028

Abstract Article

Select item 106649306.

RET enhancer haplotype-dependent remodeling of the human fetal gut development program

Sumantra Chatterjee, Lauren E. Fries, Or Yaacov, Nan Hu, Hanna E. Berk-Rauch, Aravinda Chakravarti

PLoS Genet. 2023 Nov; 19(11): e1011030. Published online 2023 Nov 10. doi: 10.1371/journal.pgen.1011030

PMCID:: PMC10664930

Abstract Article PDF–1.7M

Select item 106122527.

A unicentric cross-sectional observational study on chronic intestinal inflammation in total colonic aganglionosis: beware of an underestimated condition

M Erculiani, F Poluzzi, G Mottadelli, E Felici, Novi ML, M Caraccia, A Grandi, S Casella, L Giacometti, G Montobbio, I Ceccherini, E Di Marco, C Bonaretti, R Biassoni, M Squillario, A Pietrantoni, V Villanacci, A Pini Prato

Orphanet J Rare Dis. 2023; 18: 339. Published online 2023 Oct 27. doi: 10.1186/s13023-023-02958-1

PMCID:: PMC10612252

Abstract Article PDF–3.3M

Select item 105221068.

Maternal Vitamin A Status as a Risk Factor of Hirschsprung Disease in the Child

Shalini G. Hegde, Sarita Devi, Ambily Sivadas, Attibele Mahadevaiah Shubha, Annamma Thomas, Arpita Mukhopadhyay, Anura V. Kurpad

Clin Transl Gastroenterol. 2023 Sep; 14(9): e00619. Published online 2023 Jul 26. doi: 10.14309/ctg.0000000000000619

PMCID:: PMC10522106

Abstract Article PDF–253K

Select item 105124919.

“Liu-Liang-Chung” syndrome with multiple congenital anomalies and the distinctive craniofacial features caused by dominant ZEB2 gene gain mutation

Wei-Liang Liu, Fang Li, Wei Chen, Lu Liu, Hai-jian Cheng, Zhi-Xu He, Rong Ai

BMC Pediatr. 2023; 23: 480. Published online 2023 Sep 21. doi: 10.1186/s12887-023-04314-5

PMCID:: PMC10512491

Abstract Article PDF–954K

Select item 1045151910.

Ret deficiency decreases neural crest progenitor proliferation and restricts fate potential during enteric nervous system development

Elizabeth Vincent, Sumantra Chatterjee, Gabrielle H. Cannon, Dallas Auer, Holly Ross, Aravinda Chakravarti, Loyal A. Goff

Proc Natl Acad Sci U S A. 2023 Aug 22; 120(34): e2211986120. Published online 2023 Aug 16. doi: 10.1073/pnas.2211986120

PMCID:: PMC10451519

Abstract Article PDF–7.6M

Select item 1025817011.

Comprehensive characterization of the genetic landscape of familial Hirschsprung’s disease

Jun Xiao, Lu-Wen Hao, Jing Wang, Xiao-Si Yu, Jing-Yi You, Ze-Jian Li, Han-Dan Mao, Xin-Yao Meng, Jie-Xiong Feng

World J Pediatr. 2023; 19(7): 644–651. Published online 2023 Mar 1. doi: 10.1007/s12519-023-00686-x

PMCID:: PMC10258170

Abstract Article PDF–855K

Select item 1024427312.

Abnormally elevated expression of ACTA2 of circular smooth muscle leads to hyperactive contraction in aganglionic segments of HSCR

Ke Chen, Jingyi You, Shimin Yang, Xinyao Meng, Xuyong Chen, Luyao Wu, Xiaosi Yu, Jun Xiao, Jiexiong Feng

Pediatr Surg Int. 2023; 39(1): 214. Published online 2023 Jun 6. doi: 10.1007/s00383-023-05479-x

PMCID:: PMC10244273

Abstract Article PDF–9.3M

Select item 1024235213.

A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism

Mukhamad Sunardi, Keisuke Ito, Yuya Sato, Toshihiro Uesaka, Mitsuhiro Iwasaki, Hideki Enomoto

Cell Mol Gastroenterol Hepatol. 2023; 15(6): 1505–1524. Published online 2022 Dec 13. doi: 10.1016/j.jcmgh.2022.12.003

PMCID:: PMC10242352

Abstract Article PDF–6.2M

Select item 989874114.

Intestinal fibrosis in aganglionic segment of Hirschsprung's disease revealed by single‐cell RNA sequencing

Shiwei He, Junfeng Wang, Yanlei Huang, Fanyang Kong, Ran Yang, Yong Zhan, Zifeng Li, Chunjing Ye, Lingdu Meng, Yankang Ren, Ying Zhou, Gong Chen, Zhen Shen, Song Sun, Shan Zheng, Rui Dong

Clin Transl Med. 2023 Feb; 13(2): e1193. Published online 2023 Feb 3. doi: 10.1002/ctm2.1193

PMCID:: PMC9898741

Abstract Article PDF–6.4M

Select item 984352515.

The transition zone in Hirschsprung's bowel contains abnormal hybrid ganglia with characteristics of extrinsic nerves

Megan Smith, Sumita Chhabra, Rajeev Shukla, Simon Kenny, Sarah Almond, David Edgar, Bettina Wilm

J Cell Mol Med. 2023 Jan; 27(2): 287–298. Published online 2023 Jan 6. doi: 10.1111/jcmm.17659

PMCID:: PMC9843525

Abstract Article PDF–5.4M

Select item 982290016.

Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations

Julia Fabian, Gabriel C. Dworschak, Lea Waffenschmidt, Luca Schierbaum, Charlotte Bendixen, Stefanie Heilmann-Heimbach, Sugirthan Sivalingam, Andreas Buness, Nicole Schwarzer, Thomas M. Boemers, Eberhard Schmiedeke, Jörg Neser, Johannes Leonhardt, Ferdinand Kosch, Sandra Weih, Helen Maya Gielen, Stuart Hosie, Carmen Kabs, Markus Palta, Stefanie Märzheuser, Lena Marie Bode, Martin Lacher, Frank-Mattias Schäfer, Maximilian Stehr, Christian Knorr, Benno Ure, Katharina Kleine, Udo Rolle, Marcin Zaniew, Grote Phillip, Nadine Zwink, Ekkehart Jenetzky, Heiko Reutter, Alina C. Hilger

Eur J Hum Genet. 2023 Jan; 31(1): 105–111. Published online 2022 Nov 1. doi: 10.1038/s41431-022-01216-5

PMCID:: PMC9822900

Abstract Article PDF–1.2M

Select item 981161517.

Fecal microbiota transplantation enhances cell therapy in a rat model of hypoganglionosis by SCFA‐induced MEK1/2 signaling pathway

Donghao Tian, Wenyao Xu, Weikang Pan, Baijun Zheng, Weili Yang, Wanying Jia, Yong Liu, Malgorzata A Garstka, Ya Gao, Hui Yu

EMBO J. 2023 Jan; 42(1): e111139. Published online 2022 Nov 16. doi: 10.15252/embj.2022111139

PMCID:: PMC9811615

Abstract Article PDF–4.7M

Select item 976457218.

Histopathological dimensions differ between aganglionic and ganglionic bowel wall in children with Hirschsprung’s disease

Christina Graneli, Sofia Patarroyo, Rodrigo Munoz Mitev, David Gisselsson, Emilia Gottberg, Tobias Erlöv, Tomas Jansson, Kristine Hagelsteen, Magnus Cinthio, Pernilla Stenström

BMC Pediatr. 2022; 22: 723. Published online 2022 Dec 20. doi: 10.1186/s12887-022-03792-3

PMCID:: PMC9764572

Abstract Article PDF–1.2M

Select item 971309019.

High intestinal vascular permeability in a murine model for Hirschsprung’s disease: implications for postoperative Hirschsprung-associated enterocolitis

Kazuto Suda, Shunsuke Yamada, Katsumi Miyahara, Naho Fujiwara, Seitaro Kosaka, Kumpei Abe, Shogo Seo, Shinji Nakamura, Geoffrey J. Lane, Atsuyuki Yamataka

Pediatr Surg Int. 2023; 39(1): 15. Published online 2022 Nov 30. doi: 10.1007/s00383-022-05308-7

PMCID:: PMC9713090

Abstract Article PDF–816K

Select item 949939720.

Down-Regulation of Double C2 Domain Alpha Promotes the Formation of Hyperplastic Nerve Fibers in Aganglionic Segments of Hirschsprung’s Disease

Jun Xiao, Xinyao Meng, Ke Chen, Jing Wang, Luyao Wu, Yingjian Chen, Xiaosi Yu, Jiexiong Feng, Zhi Li

Int J Mol Sci. 2022 Sep; 23(18): 10204. Published online 2022 Sep 6. doi: 10.3390/ijms231810204

PMCID:: PMC9499397

Abstract Article PDF–3.4M

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