TY - JOUR
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/record/display.uri?eid=2-s2.0-84961200273&origin=resultslist&sort=plf-f&src=s&st1=Making+the+invisible+visible&nlo=&nlr=&nls=&sid=0728CD88D21DF359147AB145451AE389.53bsOu7mi7A1NSY7fPJf1g%3a370&sot=b&sdt=sisr&cluster=scopubyr%2c%222016%22%2ct&sl=43&s=TITLE-ABS-KEY%28Making+the+invisible+visible%29&ref=%28steensel%29&relpos=0&citeCnt=1&searchTerm=
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 -
