Associated Papers
Jag1 represses Notch activation in lateral supporting cells and inhibits an outer hair cell fate in the medial cochlea.
de Haan S et al.
Development (cambridge, England), 2024
39373109 (PubMed )
Supplement: develop-151-202949-s1.pdf
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.
Gilbert MA et al.
American Journal of Human Genetics, 2024
39043182 (PubMed )
Supplement: mmc4.xlsx › Sheet1
Growth factor and receptor malfunctions associated with human genetic deafness.
Naz S et al.
Clinical Genetics, 2020
Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.
Le Caignec C et al.
American Journal of Human Genetics, 2002
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