Making the invisible visible

Maurice A. M. van Steensel

doi:10.1016/j.semcdb.2016.02.013

Making the invisible visible

Maurice A. M. van Steensel (Lead / Corresponding author)

Research output: Contribution to journal › Book/Film/Article review › peer-review

3 Citations (Scopus)

339 Downloads (Pure)

Abstract

In this review, I will discuss how careful scrutiny of genetic skin disorders could help us to understand human biology. Like other organs, the skin and its appendages, such as hairs and teeth, experience fundamental biological processes ranging from lipid metabolism to vesicular transport and cellular migration. However, in contrast to other organ systems, they are accessible and can be studied with relative ease. By visually revealing the functional consequences of single gene defects, genetic skin diseases offer a unique opportunity to study human biology. Here, I will illustrate this concept by discussing how human genetic disorders of skin pigmentation reflect the mechanisms underlying this complex and vital process.

Original language	English
Pages (from-to)	58-65
Number of pages	8
Journal	Seminars in Cell & Developmental Biology
Volume	52
Early online date	10 Feb 2016
DOIs	https://doi.org/10.1016/j.semcdb.2016.02.013
Publication status	Published - 1 Apr 2016

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Skin
Genodermatosis
Genetic
Pigment
Pigmentation

ASJC Scopus subject areas

Developmental Biology
Cell Biology

Access to Document

10.1016/j.semcdb.2016.02.013Licence: Elsevier User Licence

Author Accepted ManuscriptAccepted author manuscript, 1.1 MBLicence: CC BY-NC-ND

Cite this

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title = "Making the invisible visible",

abstract = "In this review, I will discuss how careful scrutiny of genetic skin disorders could help us to understand human biology. Like other organs, the skin and its appendages, such as hairs and teeth, experience fundamental biological processes ranging from lipid metabolism to vesicular transport and cellular migration. However, in contrast to other organ systems, they are accessible and can be studied with relative ease. By visually revealing the functional consequences of single gene defects, genetic skin diseases offer a unique opportunity to study human biology. Here, I will illustrate this concept by discussing how human genetic disorders of skin pigmentation reflect the mechanisms underlying this complex and vital process.",

keywords = "Skin, Genodermatosis, Genetic, Pigment, Pigmentation",

author = "\{van Steensel\}, \{Maurice A. M.\}",

note = "The author is supported by grants from the Wellcome Trust, the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) UK, Tenovus Scotland, The University of Dundee and the Skin Research Institute of Singapore.",

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language = "English",

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pages = "58--65",

journal = "Seminars in Cell \& Developmental Biology",

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T1 - Making the invisible visible

AU - van Steensel, Maurice A. M.

N1 - The author is supported by grants from the Wellcome Trust, the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) UK, Tenovus Scotland, The University of Dundee and the Skin Research Institute of Singapore.

PY - 2016/4/1

Y1 - 2016/4/1

N2 - In this review, I will discuss how careful scrutiny of genetic skin disorders could help us to understand human biology. Like other organs, the skin and its appendages, such as hairs and teeth, experience fundamental biological processes ranging from lipid metabolism to vesicular transport and cellular migration. However, in contrast to other organ systems, they are accessible and can be studied with relative ease. By visually revealing the functional consequences of single gene defects, genetic skin diseases offer a unique opportunity to study human biology. Here, I will illustrate this concept by discussing how human genetic disorders of skin pigmentation reflect the mechanisms underlying this complex and vital process.

AB - In this review, I will discuss how careful scrutiny of genetic skin disorders could help us to understand human biology. Like other organs, the skin and its appendages, such as hairs and teeth, experience fundamental biological processes ranging from lipid metabolism to vesicular transport and cellular migration. However, in contrast to other organ systems, they are accessible and can be studied with relative ease. By visually revealing the functional consequences of single gene defects, genetic skin diseases offer a unique opportunity to study human biology. Here, I will illustrate this concept by discussing how human genetic disorders of skin pigmentation reflect the mechanisms underlying this complex and vital process.

KW - Skin

KW - Genodermatosis

KW - Genetic

KW - Pigment

KW - Pigmentation

UR - https://www.scopus.com/pages/publications/84961200273

U2 - 10.1016/j.semcdb.2016.02.013

DO - 10.1016/j.semcdb.2016.02.013

M3 - Book/Film/Article review

C2 - 26877141

SN - 1084-9521

VL - 52

SP - 58

EP - 65

JO - Seminars in Cell & Developmental Biology

JF - Seminars in Cell & Developmental Biology

ER -

Making the invisible visible

Abstract

UN SDGs

Keywords

ASJC Scopus subject areas

Access to Document

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