53 citations
,
January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
23 citations
,
November 2024 in “Nature”
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
97 citations
,
March 2002 in “Molecular and cellular biology” This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.
March 2026 in “Experimental Dermatology” This study developed an in vitro model using NTERT keratinocytes expressing AEC-related TP63 mutations, which replicated skin defects observed in AEC patients and offers a valuable tool for understanding the disorder and developing new treatments.