NID1-related autosomal dominant Dandy-Walker malformation with occipital cephalocele in three generations

Dietvorst, Sofie; Devriendt, Koen; Lambert, Julie Anne; Boogaerts, Anneleen; Bogaert, Kris Van Den; Buyse, Gunnar; Calenbergh, Frank Van

doi:10.1016/j.ejmg.2023.104713

Cited by 3 publications

(1 citation statement)

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“…Similarly, in a human disease Nidogen-Laminin interactions seem involved in expression of the illness. Case reports of patients with autosomal dominant Dandy-Walker malformation and occipital encephaloceles found mutations in Nidogen1 and the Nidogen binding region of LamininC1 ( Darbro et al, 2013 ; Chai et al, 2018 ; McNiven et al, 2019 ; Dietvorst et al, 2023 ). The patients showed a broad spectrum of phenotypic variability including small bony defects, arachnoid cysts and occipital encephaloceles ( Figure 2G ).…”

Section: Nidogen In Diseasementioning

confidence: 99%

Nidogen in development and disease

Töpfer,

Holz

2024

Front. Cell Dev. Biol.

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Nidogen, also known as entactin, is a multifunctional glycoprotein that plays a crucial role in the maintenance of the basement membrane (BM), morphogenesis and neuronal plasticity. This review aims to provide an overview of the structural features, molecular interactions and diverse functions associated with Nidogen. As a bridging molecule within the BM, Nidogen acts as a linchpin connecting various extracellular matrix (ECM) components. Its involvement in tissue development, homeostasis, and pathological conditions underscores its biological and medical significance. We discuss the current state of knowledge regarding Nidogen’s role in tissue maintenance, cell adhesion, migration, and signaling, shedding light on its intricate contributions to physiological and pathological processes.

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