Browsing Centre for Cell Biology and Cutaneous Research by Title
Now showing items 241-260 of 380
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New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report.
(2016-07)GAPO syndrome is a very rare genetic disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive optic atrophy (GAPO). To date, only 30 cases have been described worldwide. Recently, gene ... -
Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis
(2015-01-01)© 2014 Elsevier B.V. Harequin ichthyosis is a severe autosomal recessive ichthyosis of congenital onset caused by biallelic mutations in the ABCA12 gene. We report two neonates of Indian origin with harlequin ichthyosis. ... -
A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID).
(2018-02)Common variable immunodeficiency (CVID) is characterised by repeated infection associated with primary acquired hypogammaglobulinemia. CVID frequently has a complex aetiology but, in certain cases, it has a monogenic cause. ... -
A Novel Mechanism for Activation of GLI1 by Nuclear SMO That Escapes Anti-SMO Inhibitors.
(2018-05-15)Small-molecule inhibitors of the Hedgehog (HH) pathway receptor Smoothened (SMO) have been effective in treating some patients with basal cell carcinoma (BCC), where the HH pathway is often activated, but many patients ... -
O13 JAK inhibitors to restore skin barrier function in ARCI
(Oxford University Press (OUP), 2023-07-07) -
Orchestrated control of filaggrin-actin scaffolds underpins cornification.
(2018-04-01)Epidermal stratification critically depends on keratinocyte differentiation and programmed death by cornification, leading to formation of a protective skin barrier. Cornification is dynamically controlled by the protein ...