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Journal Articles

22q11.2 Deletion Syndrome Causes a Sox-9–Mediated Expansion of Chondrocytes Limiting Embryonic Thymus Growth Correctable by Minoxidil

Nicolai van Oers, Pratibha Bhalla, Neha Ahuja, Ashwani Kumar, Chao Xing, Angela Moses, Ashutosh Shukla, Katelyn Boetel, Christian Wysocki, Ondine Cleaver
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.162.
https://doi.org/10.70962/CIS2025abstract.162
Published: 25 April 2025
View articletitled, 22q11.2 Deletion Syndrome Causes a Sox-9–Mediated Expansion of Chondrocytes Limiting Embryonic Thymus Growth Correctable by Minoxidil
Journal Articles

Calcium Leaking from the Endoplasmic Reticulum Caused by a Human ITPR3 R2524C Variant Causes Immunodeficiency, Ectodermal Dysplasia, and Charcot-Marie-Tooth Syndrome

Nicolai van Oers, Christian Wysocki, Chao Xing, Angela Moses, Katelyn Boetel, Pratibha Bhalla, Ashutosh Shukla, Ilya Bezprozvanny, Anne Satterthwaite
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.163.
https://doi.org/10.70962/CIS2025abstract.163
Published: 25 April 2025
View articletitled, Calcium Leaking from the Endoplasmic Reticulum Caused by a Human ITPR3 R2524C Variant Causes Immunodeficiency, Ectodermal Dysplasia, and Charcot-Marie-Tooth Syndrome