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

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

Over the past decade, significant progress was made in understanding the development and differentiation of hair follicles and the epidermis, largely through studying human inherited diseases and mouse mutants with hair and epidermal defects. Research into conditions like ectodermal dysplasias and Gorlin syndrome helped identify crucial signaling pathways for hair follicle formation. Epidermolytic diseases and hyperkeratoses highlighted the role of keratin expression programs, while ichthyoses provided insights into cornification, the final stage of epidermal development. Additionally, various diseases and mouse models exhibiting alopecias shed light on the critical pathways controlling the hair follicle cycle.

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

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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

research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2

research Alopecia Universalis Associated with a Mutation in the Human hairless Gene

research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix

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

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research Differentiation of the basal cell epithelioma-like changes overlying dermatofibroma.

research Architecture of Reconstructed Epidermis on Collagen Lattices Varies according to the Method Used: A Comparative Study

research A new look into an old problem: keratins as tools to investigate determination, morphogenesis, and differentiation in skin.