Hirschsprung disease: a developmental disorder of the enteric nervous system. (Q38116935)

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3 March 2020

title

Hirschsprung disease: a developmental disorder of the enteric nervous system (English)

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3 March 2020

main subject

developmental disorder

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0 references

4

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3 March 2020

Sonja J McKeown

1

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3 March 2020

Lincon A. Stamp

2

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3 March 2020

Marlene Hao

3

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3 March 2020

author name string

Sonja J McKeown

1

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29 August 2017

Lincon Stamp

2

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29 August 2017

Marlene M Hao

3

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29 August 2017

publication date

24 April 2012

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Wiley interdisciplinary reviews. Developmental biology

3 March 2020

published in

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volume

2

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3 March 2020

issue

1

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3 March 2020

page(s)

113-129

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Hirschsprung disease, associated syndromes and genetics: a review

3 March 2020

cites work

1 reference

Down syndrome and the enteric nervous system

21 January 2018

1 reference

Practical pathology and genetics of Hirschsprung's disease

21 January 2018

1 reference

Congenital anomalies of the small intestine, colon, and rectum.

21 January 2018

1 reference

Genetic model system studies of the development of the enteric nervous system, gut motility and Hirschsprung's disease

21 January 2018

1 reference

Developmental determinants of the independence and complexity of the enteric nervous system

21 January 2018

1 reference

Regional differences in the number of neurons in the myenteric plexus of the guinea pig small intestine and colon: an evaluation of markers used to count neurons

21 January 2018

1 reference

Experimental analysis of the migration and differentiation of neuroblasts of the autonomic nervous system and of neurectodermal mesenchymal derivatives, using a biological cell marking technique

21 January 2018

1 reference

Analysis of the Sacral Neural Crest Cell Contribution to the Hindgut Enteric Nervous System in the Mouse Embryo

21 January 2018

1 reference

Time of origin of neurons in the murine enteric nervous system: Sequence in relation to phenotype

21 January 2018

1 reference

The first intestinal motility patterns in fetal mice are not mediated by neurons or interstitial cells of Cajal.

21 January 2018

1 reference

Critical numbers of neural crest cells are required in the pathways from the neural tube to the foregut to ensure complete enteric nervous system formation

21 January 2018

1 reference

Cell proliferation drives neural crest cell invasion of the intestine.

21 January 2018

1 reference

Age-dependent changes in the gut environment restrict the invasion of the hindgut by enteric neural progenitors

21 January 2018

1 reference

GDNF and ET-3 differentially modulate the numbers of avian enteric neural crest cells and enteric neurons in vitro

21 January 2018

1 reference

Enteric nervous system progenitors are coordinately controlled by the G protein-coupled receptor EDNRB and the receptor tyrosine kinase RET.

21 January 2018

1 reference

Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development.

21 January 2018

1 reference

GDNF availability determines enteric neuron number by controlling precursor proliferation.

21 January 2018

1 reference

Temporally distinct requirements for endothelin receptor B in the generation and migration of gut neural crest stem cells

21 January 2018

1 reference

Inhibition of cell death results in hyperganglionosis: implications for enteric nervous system development.

21 January 2018

1 reference

Conditional ablation of GFRalpha1 in postmigratory enteric neurons triggers unconventional neuronal death in the colon and causes a Hirschsprung's disease phenotype.

21 January 2018

1 reference

Acquisition of neuronal and glial markers by neural crest-derived cells in the mouse intestine

21 January 2018

1 reference

Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

21 January 2018

1 reference

De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease

21 January 2018

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Renal agenesis and the absence of enteric neurons in mice lacking GDNF

21 January 2018

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GDNF is abundant in the adult rat gut.

21 January 2018

1 reference

Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease

21 January 2018

1 reference

GFR alpha1-deficient mice have deficits in the enteric nervous system and kidneys.

21 January 2018

1 reference

GDNF is a chemoattractant for enteric neural cells.

21 January 2018

1 reference

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease [published erratum appears in Hum Mol Genet 1998 Oct;7(11):1831]

21 January 2018

1 reference

Gene targeting reveals a critical role for neurturin in the development and maintenance of enteric, sensory, and parasympathetic neurons

21 January 2018

1 reference

Expression of neurturin, GDNF, and GDNF family-receptor mRNA in the developing and mature mouse

21 January 2018

1 reference

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

21 January 2018

1 reference

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

21 January 2018

1 reference

Review and update of mutations causing Waardenburg syndrome.

21 January 2018

1 reference

The endothelin receptor-B is required for the migration of neural crest-derived melanocyte and enteric neuron precursors.

21 January 2018

1 reference

Maintenance of mammalian enteric nervous system progenitors by SOX10 and endothelin 3 signalling.

21 January 2018

1 reference

Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice

21 January 2018

1 reference

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease

21 January 2018

1 reference

Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies

21 January 2018

1 reference

A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?

21 January 2018

1 reference

Expression of endothelin 3 by mesenchymal cells of embryonic mouse caecum

21 January 2018

1 reference

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

21 January 2018

1 reference

Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons

21 January 2018

1 reference

A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction

21 January 2018

1 reference

Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease

21 January 2018

1 reference

Multiple essential functions of neuregulin in development

21 January 2018

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The ErbB2 and ErbB3 receptors and their ligand, neuregulin-1, are essential for development of the sympathetic nervous system

21 January 2018

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SOX10 mutations in patients with Waardenburg-Hirschsprung disease

21 January 2018

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Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4

21 January 2018

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Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

21 January 2018

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Genetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10Dom model of Hirschsprung disease.

21 January 2018

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Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret

21 January 2018

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SOX10 Maintains Multipotency and Inhibits Neuronal Differentiation of Neural Crest Stem Cells

21 January 2018

1 reference

Sox proteins in melanocyte development and melanoma

21 January 2018

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Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

21 January 2018

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?Mowat-Wilson? syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

21 January 2018

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Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.

21 January 2018

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Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome

21 January 2018

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Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development.

21 January 2018

1 reference

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

21 January 2018

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The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives

21 January 2018

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A single rostrocaudal colonization of the rodent intestine by enteric neuron precursors is revealed by the expression of Phox2b, Ret, and p75 and by explants grown under the kidney capsule or in organ culture

21 January 2018

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A Histone2BCerulean BAC transgene identifies differential expression of Phox2b in migrating enteric neural crest derivatives and enteric glia

21 January 2018

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Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

21 January 2018

1 reference

KBP is essential for axonal structure, outgrowth and maintenance in zebrafish, providing insight into the cellular basis of Goldberg-Shprintzen syndrome

21 January 2018

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KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation.

21 January 2018

1 reference

Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM

21 January 2018

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Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.

21 January 2018

1 reference

The cell adhesion molecule l1 is required for chain migration of neural crest cells in the developing mouse gut.

21 January 2018

1 reference

Novel functions and signalling pathways for GDNF.

21 January 2018

1 reference

The RET receptor: function in development and dysfunction in congenital malformation

21 January 2018

1 reference

Renal and neuronal abnormalities in mice lacking GDNF

21 January 2018

1 reference

Age-dependent differences in the effects of GDNF and NT-3 on the development of neurons and glia from neural crest-derived precursors immunoselected from the fetal rat gut: expression of GFRalpha-1 in vitro and in vivo

21 January 2018

1 reference

Neurturin and GDNF promote proliferation and survival of enteric neuron and glial progenitors in vitro

21 January 2018

1 reference

Enteric nervous system development: Recent progress and future challenges.

21 January 2018

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Loss of mammalian Sprouty2 leads to enteric neuronal hyperplasia and esophageal achalasia

21 January 2018

1 reference

KIF26A is an unconventional kinesin and regulates GDNF-Ret signaling in enteric neuronal development

21 January 2018

1 reference

The timing and location of glial cell line-derived neurotrophic factor expression determine enteric nervous system structure and function.

21 January 2018

1 reference

Differential activities of the RET tyrosine kinase receptor isoforms during mammalian embryogenesis

21 January 2018

1 reference

Critical and distinct roles for key RET tyrosine docking sites in renal development

21 January 2018

1 reference

Organotypic specificity of key RET adaptor-docking sites in the pathogenesis of neurocristopathies and renal malformations in mice

21 January 2018

1 reference

Alimentary tract innervation deficits and dysfunction in mice lacking GDNF family receptor alpha2.

21 January 2018

1 reference

Endothelin-3 regulates neural crest cell proliferation and differentiation in the hindgut enteric nervous system.

21 January 2018

1 reference

Mechanisms and perspectives on differentiation of autonomic neurons

21 January 2018

1 reference

Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest-derived enteric neuron precursors.

21 January 2018

1 reference

Sorting out Sox10 functions in neural crest development

21 January 2018

1 reference

Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome.

21 January 2018

1 reference

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

21 January 2018

1 reference

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

21 January 2018

1 reference

Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb

21 January 2018

1 reference

Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect

21 January 2018

1 reference

L1cam acts as a modifier gene during enteric nervous system development

21 January 2018

1 reference

Neural precursor death is central to the pathogenesis of intestinal aganglionosis in Ret hypomorphic mice.

21 January 2018

1 reference

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

21 January 2018

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Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

21 January 2018

1 reference

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

21 January 2018

1 reference

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

21 January 2018

1 reference

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).

21 January 2018

1 reference

Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease

21 January 2018

1 reference

Vitamin A facilitates enteric nervous system precursor migration by reducing Pten accumulation

21 January 2018

1 reference

Electrophysiological properties of the aganglionic segment in Hirschsprung's disease.

21 January 2018

1 reference

Increased smooth muscle contractility of intestine in the genetic null of the endothelin ETB receptor: a rat model for long segment Hirschsprung's disease

21 January 2018

1 reference

Neural stem cell transplantation in the enteric nervous system: roadmaps and roadblocks

21 January 2018

1 reference

Potential of cell therapy to treat pediatric motility disorders

21 January 2018

1 reference

Neural crest stem cells persist in the adult gut but undergo changes in self-renewal, neuronal subtype potential, and factor responsiveness

21 January 2018

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Isolation and propagation of enteric neural crest progenitor cells from mouse embryonic stem cells and embryos

21 January 2018

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21 January 2018

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