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Transcriptomic profiling of aganglionic and ganglionic colon segments from Hirschsprung disease patients

ABSTRACT: Transcriptomic profiling of aganglionic and ganglionic colon segments from Hirschsprung disease patients

PROVIDER: PRJNA1306000 | ENA |

REPOSITORIES: ENA

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Transcriptomic profiling of aganglionic and ganglionic colon segments from Hirschsprung disease patients

Project description:This dataset contains bulk RNA sequencing data from paired aganglionic and ganglionic colonic tissue specimens obtained from three pediatric patients diagnosed with Hirschsprung disease (HSCR, OMIM 142623). RNA was extracted and sequenced to investigate transcriptomic alterations and signaling pathway dysregulation associated with HSCR pathogenesis. Raw paired-end FASTQ files generated by Illumina NovaSeq 6000 sequencing are provided for each sample, enabling downstream analyses of differential gene expression between diseased and unaffected intestinal segments.

2025-08-14 | GSE305450 | GEO

Intramuscular Enteric Glia Persist in Hirschsprung Disease and Undergo Neurogenesis in Response to GDNF-NCAM1 Signaling

Project description:Background & Aims Enteric glial cells (EGCs) play vital roles in gut homeostasis and neurogenesis. Hirschsprung disease (HSCR) is a neurocristopathy, yet paradoxically, neural crest-derived enteric glial cells (EGCs) are present within the muscle of the affected region. This study investigates the molecular identity, origins, and neurogenic potential of EGCs in the aganglionic mouse and human colon. Methods We utilized single-cell RNA sequencing (scRNA-seq) from aganglionic and ganglionated segments of 10-14 day old Ednrb-null mice (Plp1-GFP;Ednrb-/-) and wild-type controls. Results scRNA-seq revealed the absence of GFAP+ intraganglionic (IG) glia in aganglionic colon, while CAMK2b+ extraganglionic (EG) glia and Schwann-like cells (SLCs) were present. EG glia exhibited a transcriptional profile similar to SLCs, suggesting a possible shared embryonic origin. Conclusions A subpopulation of extraganglionic EGCs, transcriptionally similar to SLCs, persists in the aganglionic segment of HSCR.

2025-10-15 | GSE293138 | GEO

Single-cell RNA sequencing of small intestine neurons in Hirschsprung disease mice

Project description:This study was undertaken to identify gene expression changes in enteric neurons of Hirschsprung disease mice. Methods: We performed single-cell RNA sequencing of enteric nervous system cells isolated from the small intestine of Ednrb-knockout mice at age P14. Results: Through comparisons with published datasets of WT small intestine enteric neurons, we identify a missing neuronal population in the ganglionated small intestine of Hirschsprung disease mice. Conclusion: Single-cell RNA sequencing permits identification of cellular perturbations in Hirschsprung disease models.

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Transcription profiling of human intestinal cells (Caco-2) and tissues from all intestinal segments (duodenum, jejunum, ileum, colon)

Project description:Affymetrix U95Av2 expression data from human intestinal cells (Caco-2) and tissues from all intestinal segments (duodenum, jejunum, ileum, colon). Entries contain the search terms glycosylase, phosphorylase, cytochrome or nucleoside, which were relevant to our search for enzymes capable of cleaving the N-glycosidic bond of nucleoside analog drugs.

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Whole exome sequencing for Hirschsprung disease

Project description:Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

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Bulk RNA-seq of the human fetal neocortex, lateral ganglionic eminence and medial ganglionic eminence at 7, 9, 11 and 20 post-conceptional weeks

Project description:Deep transcriptional profiling of the human neocortex, lateral ganglionic eminence (LGE) and medial ganglionic eminences (MGE), from 7 to 20 post-conceptional weeks (pcw), for de novo lincRNAs discovery and to establish a unique coding and non-coding gene signature for the three different regions.

2021-05-13 | E-MTAB-8893 | biostudies-arrayexpress

Genetic analysis of Hirschsprung disease

Project description:<p>Hirschsprung disease (HSCR) is a birth defect resulting from the absence of nerve (ganglion) cells in the gastrointestinal tract. Hirschsprung disease has a population incidence of 1/5,000 live births and most often occurs as an isolated condition. However, approximately 30% of HSCR cases are associated with other birth defects such as Down syndrome, deafness, hypopigmentation, and Congenital Central Hypoventilation syndrome (CCHS). Hirschsprung disease is a genetic condition with autosomal dominant, autosomal recessive, and multigenic patterns of inheritance described. The goal of the research study is to identify genes harboring causative HSCR mutations and to better understand the complex inheritance of HSCR in families using whole genome mapping and sequencing studies with functional follow-up of candidate genes and variants. We intend to ascertain the frequency with which mutations in any human gene lead to familial and isolated forms of HSCR. Clinical information is collected to allow investigation of possible genotype - phenotype correlations.</p> <p>The subject population consists of individuals diagnosed with HSCR and their unaffected relatives. Individuals/families are ascertained through support groups, web-based listings of research studies and genetic testing services, an educational study website, and referrals from genetic counselors and physicians. Blood, or tissue, samples are requested from affected individuals and their unaffected relatives.</p>

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Human enteric nervous system progenitor transplantation restores functional responses in Hirschsprung Disease patient-derived tissue

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Project description:Kids First: The genomic architecture of Hirschsprung Disease (HSCR)

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