Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives (Q38800868)

6 September 2017

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title

Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives (English)

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6 September 2017

main subject

Hirschsprung's disease

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inferred from title

author name string

Consolato Maria Sergi

1

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6 September 2017

Oana Caluseriu

2

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6 September 2017

Hunter McColl

3

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6 September 2017

David D Eisenstat

4

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6 September 2017

language of work or name

English

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publication date

28 September 2016

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6 September 2017

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6 September 2017

volume

81

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6 September 2017

issue

1-2

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6 September 2017

page(s)

177-191

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From the neural crest to chromaffin cells: introduction to a session on chromaffin cell development

6 September 2017

cites work

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Regulators of gene expression in Enteric Neural Crest Cells are putative Hirschsprung disease genes.

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Distal Rectal Skip-Segment Hirschsprung Disease and the Potential for False-Negative Diagnosis

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Total colonic aganglionosis and Hirschsprung's disease: a review

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Classification and diagnostic criteria of variants of Hirschsprung's disease

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A rare case of multiple skip segment Hirschsprung's disease in the ileum and colon

21 January 2018

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Segmental aganglionosis (zonal aganglionosis or "skip" lesions) in Hirschsprungs disease: a report of 2 unusual cases

21 January 2018

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Novel classification and pathogenetic analysis of hypoganglionosis and adult-onset Hirschsprung's disease.

21 January 2018

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Skip segment Hirschsprung's disease: a systematic review.

21 January 2018

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Hirschsprung disease, associated syndromes and genetics: a review

21 January 2018

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Genetic basis of Hirschsprung's disease.

21 January 2018

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Hirschsprung disease, associated syndromes, and genetics: a review

21 January 2018

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Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals

21 January 2018

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"Down syndrome: an insight of the disease"

21 January 2018

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Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

21 January 2018

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Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

21 January 2018

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Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease

21 January 2018

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Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET.

21 January 2018

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RET and NTRK1 proto-oncogenes in human diseases.

21 January 2018

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Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model

21 January 2018

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Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Review and update of mutations causing Waardenburg syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Congenital central hypoventilation syndrome (CCHS) with Hirschsprung disease (Haddad syndrome): an unusual cause of reduced baseline variability of the fetal heart rate

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease.

21 January 2018

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https://api.crossref.org/works/10.1038%2FPR.2016.202

Pathways systematically associated to Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

NPARM in PHOX2B: why some things just should not be expanded

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Perturbation of Hoxb5 signaling in vagal and trunk neural crest cells causes apoptosis and neurocristopathies in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Associations Between CYP2B6 rs707265, rs1042389, rs2054675, and Hirschsprung Disease in a Chinese Population

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

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

https://api.crossref.org/works/10.1038%2FPR.2016.202

Developmental markers of ganglion cells in the enteric nervous system and their application for evaluation of Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

RET mutations in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Epigenetics in Medullary Thyroid Cancer: From Pathogenesis to Targeted Therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Fine mapping of the NRG1 Hirschsprung's disease locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Fine mapping of the 9q31 Hirschsprung's disease locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Disturbances of colonic motility in mouse models of Hirschsprung's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

RET and NRG1 interplay in Hirschsprung disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Segregation at three loci explains familial and population risk in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

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

https://api.crossref.org/works/10.1038%2FPR.2016.202

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Genomic variation in multigenic traits: Hirschsprung disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

The genetics of Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

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

https://api.crossref.org/works/10.1038%2FPR.2016.202

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Special basic science review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Endothelin receptor B, a candidate gene from human studies at high altitude, improves cardiac tolerance to hypoxia in genetically engineered heterozygote mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

The role of SOX10 during enteric nervous system development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Enteric nervous system development: migration, differentiation, and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

The developmental etiology and pathogenesis of Hirschsprung disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish Hirschsprung patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Association of genetic polymorphisms in the RET-protooncogene and NRG1 with Hirschsprung disease in Thai patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Suppressive action of miRNAs to ARP2/3 complex reduces cell migration and proliferation via RAC isoforms in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

A common polymorphism in pre-miR-146a underlies Hirschsprung disease risk in Han Chinese.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Decreased MiR-200a/141 suppress cell migration and proliferation by targeting PTEN in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Down-regulation of MeCP2 in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Down-regulation of miR-206 is associated with Hirschsprung disease and suppresses cell migration and proliferation in cell models

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

MiR-195 affects cell migration and cell proliferation by down-regulating DIEXF in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Nidogen-1 is a common target of microRNAs MiR-192/215 in the pathogenesis of Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

SLIT2/ROBO1-miR-218-1-RET/PLAG1: a new disease pathway involved in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Specific serum microRNA profile in the molecular diagnosis of Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Aberrant reduction of MiR-141 increased CD47/CUL3 in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Ibuprofen slows migration and inhibits bowel colonization by enteric nervous system precursors in zebrafish, chick and mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Medical management of motility disorders in patients with intestinal failure: a focus on necrotizing enterocolitis, gastroschisis, and intestinal atresia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

De-novo mutations of the RET proto-oncogene in Hirschsprung's disease

21 January 2018

1 reference

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Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum ofMED12mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Skip segment Hirschsprung's disease: a case report and novel management technique

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Ultrashort Hirschsprung's disease: myth or reality

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Frequency of RET mutations in long- and short-segment Hirschsprung disease

31 March 2020

2 references

https://api.crossref.org/works/10.1038%2FPR.2016.202

31 March 2020

12 December 2020

Genetic analysis of RET, EDNRB, and EDN3 genes and three SNPs in MCS + 9.7 in Chinese Patients with isolated Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

SEMA3A rs7804122 polymorphism is associated with Hirschsprung disease in the Northeastern region of China

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Semaphorin 3A expression in the colon of Hirschsprung disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Study of the effect of miR‑124 and the SOX9 target gene in Hirschsprung's disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2016.202

Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patients

31 March 2020

1 reference

12 December 2020

Hirschsprung's disease as a model of complex genetic etiology

1 reference

12 December 2020

Hirschsprung, RET-SOX and beyond: the challenge of examining non-mendelian traits (Review).

1 reference

12 December 2020

SNP and gene networks construction and analysis from classification of copy number variations data

1 reference

12 December 2020

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease

1 reference

12 December 2020

A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome

1 reference

12 December 2020

A genetic study of Hirschsprung disease

1 reference

12 December 2020

Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene

1 reference

12 December 2020

Ultrashort segment Hirschsprung's disease: a case report

1 reference

12 December 2020

Effectiveness of Rectal Suction Biopsy in Diagnosing Hirschsprung Disease

1 reference

12 December 2020

Novel mutation-deletion in the PHOX2B gene of the patient diagnosed with Neuroblastoma, Hirschsprung's Disease, and Congenital Central Hypoventilation Syndrome (NB-HSCR-CCHS) Cluster

1 reference

12 December 2020

Pathogenesis of Hirschsprung's disease

1 reference

12 December 2020

Hirschsprung disease associated with Mowat-Wilson syndrome: report of a case

1 reference

12 December 2020

Shah-Waardenburg syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1038/PR.2016.202

1 reference

Dimensions Publication ID

6 September 2017

1050186362

0 references

1 reference