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Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
A clear genotype--phenotype correlation can be recognized for EEC and AEC syndromes, where the p63 gene mutations have highly pleiotropic effects.
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).
A new X-linked recessive immunodeficiency syndrome is defined, distinct from other types of HED and immunODeficiency syndromes, and the data provide further evidence that the development of ectodermal appendages is mediated through a tumor necrosis factor/tumor necrosis factors receptor-like signaling pathway, with the IKK signalsome complex playing a significant role.
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
- G. Meyers, S. Orlow, I. Munro, K. A. Przylepa, E. Jabs
- Medicine, BiologyNature Genetics
- 1 December 1995
The association of non–dwarfing and even non–skeletal conditions with FGFR3 mutations reveals the potential for a wide range of FGFR pleiotropic effects as well as locus heterogeneity in Crouzon syndrome, and underscores the biologic complexity of the FGFR gene family.
Patient perspectives on the management of atopic dermatitis.
Neurocutaneous melanosis: clinical features of large congenital melanocytic nevi in patients with manifest central nervous system melanosis.
Vitiligo inducing phenols activate the unfolded protein response in melanocytes resulting in upregulation of IL6 and IL8
It is shown that expression of key UPR components, including the transcription factor X-box binding protein 1 (XBP1), are increased following exposure of melanocytes to phenols, and melanocytes themselves produce cytokines associated with activation of an immune response following exposure to chemical triggers of vitiligo.
Mebendazole Induces Apoptosis via Bcl-2 Inactivation in Chemoresistant Melanoma Cells
- N. Doudican, Adrianna S. Rodriguez, I. Osman, S. Orlow
- Biology, ChemistryMolecular Cancer Research
- 1 August 2008
It is revealed that mebendazole inhibits melanoma growth with an average IC50 of 0.32 μmol/L and preferentially induces apoptosis in melanoma cells compared with melanocytes, and is identified as a potent, melanoma-specific cytotoxic agent.
Mislocalization of melanosomal proteins in melanocytes from mice with oculocutaneous albinism type 2.
- P. Manga, R. Boissy, S. Pifko-Hirst, B. K. Zhou, S. Orlow
- BiologyExperimental eye research
- 1 June 2001
It is proposed that p is required by melanocytes for transport of melanosomal proteins, and tyrosinase accumulates in vesicles and, in cultured melanocytes, is proteolysed and secreted.
The Pmel 17/silver locus protein. Characterization and investigation of its melanogenic function.
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
The results underscore the allelic heterogeneity of these conditions and the complexity of the phenotypic consequences of FGFR2 mutations.