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Article

Identification of disease-relevant modulators of the SHH pathway in the developing brain.

Development (Cambridge, England) - 1 Sept 2021

Mecklenburg Nora, Kowalczyk Izabela, Witte Franziska, Görne Jessica, Laier Alena, Mamo Tamrat M, Gonschior Hannes, Lehmann Martin, Richter Matthias, Sporbert Anje, Purfürst Bettina, Hübner Norbert, Hammes Annette

Abstract excerpt

Pathogenic gene variants in humans that affect the sonic hedgehog (SHH) pathway lead to severe brain malformations with variable penetrance due to unknown modifier genes. To identify such modifiers, we established novel congenic mouse models. LRP2-deficient C57BL/6N mice suffer from heart outflow tract defects and holoprosencephaly caused by impaired SHH activity. These defects are fully rescued on a FVB/N...

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Identifiers

PMID: 34463328
DOI: 10.1242/dev.199307

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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