Publications by Sharon Ocansey

Publications by authors named "Sharon Ocansey"

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Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.

Sharon Ocansey Debbie Pullen Patricia Atkinson Antonia Clarke Medard Hadonou

Clin Dysmorphol

January 2022

DNAJC3, a co-chaperone of BiP, is a member of the heat shock protein family. These proteins are produced in the endoplasmic reticulum (ER) to counter cell stress resulting from healthy functional protein processing. Dysregulation of unfolded proteins within the ER is implicated as a mechanism of genetic disease.

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