Male-biased aganglionic megacolon in the TashT mouse model of Hirschsprung disease involves upregulation of p53 protein activity and Ddx3y gene expression

Gut microbiota-mediated Gene-Environment interaction in the TashT mouse model of Hirschsprung disease

(2019) Aboubacrine Mahamane Touré et al.   Scientific Reports

Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease

(2019) Joseph M. Tilghman et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Spatiotemporal Pattern and Intensity of p53 Activation Dictates Phenotypic Diversity in p53-Driven Developmental Syndromes

(2019) Margot E. Bowen et al.   DEVELOPMENTAL CELL

The Gut and Parkinson's Disease—A Bidirectional Pathway

(2019) Susanne Fonseca Santos et al.   Frontiers in Neurology

Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing

(2018) Clara SM Tang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Hirschsprung disease — integrating basic science and clinical medicine to improve outcomes

(2018) Robert O. Heuckeroth   Nature Reviews Gastroenterology & Hepatology

Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome

(2018) Catherine Bélanger et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders

(2018) Eliezer Calo et al.   NATURE

Enteric nervous system development: what could possibly go wrong?

(2018) Meenakshi Rao et al.   NATURE REVIEWS NEUROSCIENCE

Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development

(2018) Clara Sze-man Tang et al.   GASTROENTEROLOGY

Chain organization of human interphase chromosome determines the spatiotemporal dynamics of chromatin loci

(2018) Lei Liu et al.   PLoS Computational Biology

The RNA helicase DDX3X is an essential mediator of innate antimicrobial immunity

(2018) Daniel Szappanos et al.   PLoS Pathogens

Correction of Hirschsprung-Associated Mutations in Human Induced Pluripotent Stem Cells Via Clustered Regularly Interspaced Short Palindromic Repeats/Cas9, Restores Neural Crest Cell Function

(2017) Frank Pui-Ling Lai et al.   GASTROENTEROLOGY

Allelic reprogramming of 3D chromatin architecture during early mammalian development

(2017) Zhenhai Du et al.   NATURE

Dual origin of enteric neurons in vagal Schwann cell precursors and the sympathetic neural crest

(2017) Isabel Espinosa-Medina et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Enteric nervous system development: A crest cell’s journey from neural tube to colon

(2017) Nandor Nagy et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Aberrant activation of the human sex-determining gene in early embryonic development results in postnatal growth retardation and lethality in mice

(2017) Tatsuo Kido et al.   Scientific Reports

w4CSeq: software and web application to analyze 4C-seq data

(2016) Mingyang Cai et al.   BIOINFORMATICS

Geminin prevents DNA damage in vagal neural crest cells to ensure normal enteric neurogenesis

(2016) Chrysoula Konstantinidou et al.   BMC BIOLOGY

Gene-environment interactions and the enteric nervous system: Neural plasticity and Hirschsprung disease prevention

(2016) Robert O. Heuckeroth et al.   DEVELOPMENTAL BIOLOGY

Upregulation of theNr2f1-A830082K12Rikgene pair in murine neural crest cells results in a complex phenotype reminiscent of Waardenburg syndrome type 4

(2016) Karl-F. Bergeron et al.   Disease Models & Mechanisms

Bowel dysfunction following pullthrough surgery is associated with an overabundance of nitrergic neurons in Hirschsprung disease

(2016) Lily S. Cheng et al.   JOURNAL OF PEDIATRIC SURGERY

Male-specific colon motility dysfunction in theTashTmouse line

(2016) A. M. Touré et al.   NEUROGASTROENTEROLOGY AND MOTILITY

Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation

(2016) Daisuke Sakai et al.   Nature Communications

A collagen VI–dependent pathogenic mechanism for Hirschsprung’s disease

(2015) Rodolphe Soret et al.   JOURNAL OF CLINICAL INVESTIGATION

Neuronal Differentiation in Schwann Cell Lineage Underlies Postnatal Neurogenesis in the Enteric Nervous System

(2015) T. Uesaka et al.   JOURNAL OF NEUROSCIENCE

DDX3Y, a Male-Specific Region of Y Chromosome Gene, May Modulate Neuronal Differentiation

(2015) Haghighat Vakilian et al.   JOURNAL OF PROTEOME RESEARCH

Identification and characterization of essential genes in the human genome

(2015) T. Wang et al.   SCIENCE

NSC-87877 inhibits DUSP26 function in neuroblastoma resulting in p53-mediated apoptosis

(2015) Y Shi et al.   Cell Death & Disease

Male-Biased Aganglionic Megacolon in the TashT Mouse Line Due to Perturbation of Silencer Elements in a Large Gene Desert of Chromosome 10

(2015) Karl-F. Bergeron et al.   PLoS Genetics

SRY interference of normal regulation of the RET gene suggests a potential role of the Y-chromosome gene in sexual dimorphism in Hirschsprung disease

(2014) Yunmin Li et al.   HUMAN MOLECULAR GENETICS

Intestinal dysbiosis and bacterial enteroinvasion in a murine model of Hirschsprung’s disease

(2014) Joseph F. Pierre et al.   JOURNAL OF PEDIATRIC SURGERY

X chromosome regulation: diverse patterns in development, tissues and disease

(2014) Xinxian Deng et al.   NATURE REVIEWS GENETICS

Atomic Structure of Dual-Specificity Phosphatase 26, a Novel p53 Phosphatase

(2013) Ravi Kumar Lokareddy et al.   BIOCHEMISTRY

One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering

(2013) Haoyi Wang et al.   CELL

Altered neuronal density and neurotransmitter expression in the ganglionated region ofEdnrbnull mice: implications for Hirschsprung's disease

(2013) I. Zaitoun et al.   NEUROGASTROENTEROLOGY AND MOTILITY

DDX3 loss by p53 inactivation promotes tumor malignancy via the MDM2/Slug/E-cadherin pathway and poor patient outcome in non-small-cell lung cancer

(2013) D-W Wu et al.   ONCOGENE

DEAD box RNA helicase functions in cancer

(2013) Frances V. Fuller-Pace   RNA Biology

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

The male fight-flight response: A result of SRY regulation of catecholamines?

(2012) Joohyung Lee et al.   BIOESSAYS

The developmental genetics of Hirschsprung's disease

(2012) K-F Bergeron et al.   CLINICAL GENETICS

Transgenic mouse analysis of Sry expression during the pre- and peri-implantation stage

(2012) David W. Silversides et al.   DEVELOPMENTAL DYNAMICS

Caudal-related Homeobox (Cdx) Protein-dependent Integration of Canonical Wnt Signaling on Paired-box 3 (Pax3) Neural Crest Enhancer

(2012) Oraly Sanchez- Ferras et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The human testis-determining factor SRY localizes in midbrain dopamine neurons and regulates multiple components of catecholamine synthesis and metabolism

(2012) Daniel P. Czech et al.   JOURNAL OF NEUROCHEMISTRY

Intestinal aganglionosis is associated with early and sustained disruption of the colonic microbiome

(2012) N. L. Ward et al.   NEUROGASTROENTEROLOGY AND MOTILITY

The DEAD-box helicase DDX3 supports the assembly of functional 80S ribosomes

(2012) Rene Geissler et al.   NUCLEIC ACIDS RESEARCH

L1cam acts as a modifier gene for members of the endothelin signalling pathway during enteric nervous system development

(2011) A. S. Wallace et al.   NEUROGASTROENTEROLOGY AND MOTILITY

Genetic Background Strongly Modifies the Severity of Symptoms of Hirschsprung Disease, but Not Hearing Loss in Rats Carrying Ednrbsl Mutations

(2011) Ruihua Dang et al.   PLoS One

Dual-specificity phosphatase 26 is a novel p53 phosphatase and inhibits p53 tumor suppressor functions in human neuroblastoma

(2010) X Shang et al.   ONCOGENE

DDX3Y encodes a class I MHC-restricted H-Y antigen that is expressed in leukemic stem cells

(2008) K. V. Rosinski et al.   BLOOD

Novel pre- and post-gastrulation expression of Gata4 within cells of the inner cell mass and migratory neural crest cells

(2008) Nicolas Pilon et al.   DEVELOPMENTAL DYNAMICS

Diminished Ret expression compromises neuronal survival in the colon and causes intestinal aganglionosis in mice

(2008) Toshihiro Uesaka et al.   JOURNAL OF CLINICAL INVESTIGATION

Hirschsprung disease: do risk factors of poor surgical outcome exist?

(2008) Alessio Pini Prato et al.   JOURNAL OF PEDIATRIC SURGERY

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function

(2008) Natalie C Jones et al.   NATURE MEDICINE