Inherited Disorders of the Skin in Humans and Mice: From Development to Differentiation

January 2004 in “ The International Journal of Developmental Biology ”

Ryan F.L. O’Shaughnessy, Angela M. Christiano

hair follicles epidermis ectodermal dysplasias Gorlin syndrome signaling pathways epidermolytic diseases hyperkeratoses keratin expression ichthyoses cornification alopecias hair follicle cycle

TLDR Research on skin disorders in humans and mice has improved understanding of hair and skin development.

The document reviewed the advancements in understanding the development and differentiation of hair follicles and the epidermis over the past decade, focusing on inherited skin disorders in humans and mice. It highlighted how studying conditions like ectodermal dysplasias and Gorlin syndrome helped identify crucial signaling pathways for hair follicle formation. Additionally, it discussed how epidermolytic diseases and hyperkeratoses emphasized the role of keratin expression programs, while ichthyoses provided insights into the cornification stage of epidermal development. The review also noted that various diseases and mouse models exhibiting alopecias were instrumental in uncovering the pathways controlling the hair follicle cycle.

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Inherited Disorders of the Skin in Humans and Mice: From Development to Differentiation

Research cited in this study

research The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene

research Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene

research Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix

research A Novel Missense Mutation (C622G) in the Zinc-Finger Domain of the Human Hairless Gene Associated with Congenital Atrichia with Papular Lesions

research Induction of Basal Cell Carcinomas and Trichoepitheliomas in Mice Overexpressing GLI-1

research Induction of Basal Cell Carcinomas and Trichoepitheliomas in Mice Overexpressing GLI-1

research Induction of the Hair Growth Phase in Postnatal Mice by Localized Transient Expression of Sonic Hedgehog

research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia

research The Role of the Hairless (Hr) Gene in the Regulation of Hair Follicle Catagen Transformation

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research A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix

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