53 citations
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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.
13 citations
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June 2024 in “Frontiers in Genetics” This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.
51 citations
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May 2021 in “Nature Communications” This study found that ablating centrosomes in developing epidermis alters keratinocyte division without majorly affecting differentiation, suggesting early epidermal development is driven by high proliferation and cell delamination.
1 citations
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July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that centrosome ablation in developing epidermis triggers cell surveillance pathways, resulting in thinner skin and halted hair follicle growth, while later stages of epidermal growth may operate independently of basal progenitor division orientation.
August 2025 in “Scientific Reports” This study found that the protein C4BPA may link insulin resistance and acne vulgaris by influencing lipid metabolism and inflammatory pathways, suggesting it as a potential mediator in the pathogenesis of both conditions.