Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

doi:10.1172/JCI145837

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Article

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

The Journal of clinical investigation - 15 Mar 2021

Le Thuy-Linh, Galmiche Louise, Levy Jonathan, Suwannarat Pim, Hellebrekers Debby Mei, Morarach Khomgrit, Boismoreau Franck, Theunissen Tom Ej, Lefebvre Mathilde, Pelet Anna, Martinovic Jelena, Gelot Antoinette, Guimiot Fabien, Calleroz Amanda, Gitiaux Cyril, Hully Marie, Goulet Olivier, Chardot Christophe, Drunat Severine, Capri Yline, Bole-Feysot Christine, Nitschké Patrick, Whalen Sandra, Mouthon Linda, Babcock Holly E, Hofstra Robert, de Coo Irenaeus Fm, Tabet Anne-Claude, Molina Thierry J, Keren Boris, Brooks Alice, Smeets Hubert Jm, Marklund Ulrika, Gordon Christopher T, Lyonnet Stanislas, Amiel Jeanne, Bondurand Nadège

Abstract excerpt

Hirschsprung disease (HSCR) is the most frequent developmental anomaly of the enteric nervous system, with an incidence of 1 in 5000 live births. Chronic intestinal pseudo-obstruction (CIPO) is less frequent and classified as neurogenic or myogenic. Isolated HSCR has an oligogenic inheritance with RET as the major disease-causing gene, while CIPO is genetically heterogeneous, caused by mutations in smooth...

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PMID: 33497358
DOI: 10.1172/JCI145837
PMCID: PMC7954599

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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