Ectodermal dysplasias (ED) are a group of more than 150 clinically distinct disorders, of which the underlying genes have been positively identified in only two. Many of these syndromes are rare, and can manifest with variable combinations and severity of defects in the development of the four major epidermal appendages: sweat glands, hair, teeth and nails. The conditions have been shown to be attributable to autosomal dominant, autosomal recessive and X-linked dominant and recessive genes. The classical X-linked anhydrotic ectodermal dysplasia (EDA) was linked to Xq12-q13.1, and mutations were identified in a novel transmembrane protein of unknown function, called EDA. More recently, mutations in the plakophilin I gene were found to result in a form of ectodermal dysplasia with skin fragility. In addition to these forms, four other phenotypes have been linked to different chromosomal loci, though no underlying genes or mutations have yet been identified. These include 1) Clouston syndrome in the pericentric region of chromosome 13; 2) EEC (ectrodactyly, ectodermal dysplasia) syndrome to chromosome 7q11.2-21.3; 3) Split hand/split foot malformation to chromosome 7q21.2-q21.3; and most recently 4) (autosomal dominant hypohidrotic ectodermal dysplasia) to chromosome 2q11-q13. We have had an interest in isolated disorders of the hair and teeth, and in this Pilot and Feasibility study, we propose linkage studies and gene discovery in three families with ectodermal dysplasias, with the goal of understanding additional pathways of gene expression in the development of ectodermal structures.

Project Start
1998-07-01
Project End
1999-06-30
Budget Start
1997-10-01
Budget End
1998-09-30
Support Year
2
Fiscal Year
1998
Total Cost
Indirect Cost
Name
Columbia University (N.Y.)
Department
Type
DUNS #
167204994
City
New York
State
NY
Country
United States
Zip Code
10032
Shen, Yao; Stanislauskas, Milda; Li, Gen et al. (2017) Epigenetic and genetic dissections of UV-induced global gene dysregulation in skin cells through multi-omics analyses. Sci Rep 7:42646
Mathew, Grinu; Hannan, Abdul; Hertzler-Schaefer, Kristina et al. (2016) Targeting of Ras-mediated FGF signaling suppresses Pten-deficient skin tumor. Proc Natl Acad Sci U S A 113:13156-13161
Shen, Yao; Kim, Arianna L; Du, Rong et al. (2016) Transcriptome Analysis Identifies the Dysregulation of Ultraviolet Target Genes in Human Skin Cancers. PLoS One 11:e0163054
Dai, Zhenpeng; Xing, Luzhou; Cerise, Jane et al. (2016) CXCR3 Blockade Inhibits T Cell Migration into the Skin and Prevents Development of Alopecia Areata. J Immunol 197:1089-99
Abaci, Hasan E; Guo, Zongyou; Coffman, Abigail et al. (2016) Human Skin Constructs with Spatially Controlled Vasculature Using Primary and iPSC-Derived Endothelial Cells. Adv Healthc Mater 5:1800-7
Dainichi, Teruki; Hayden, Matthew S; Park, Sung-Gyoo et al. (2016) PDK1 Is a Regulator of Epidermal Differentiation that Activates and Organizes Asymmetric Cell Division. Cell Rep 15:1615-23
Johnson, Dylan; Mathur, Mohit C; Kobayashi, Tomoyoshi et al. (2016) The Cardiomyopathy Mutation, R146G Troponin I, Stabilizes the Intermediate ""C"" State of Regulated Actin under High- and Low-Free Ca(2+) Conditions. Biochemistry 55:4533-40
Shinkuma, Satoru; Guo, Zongyou; Christiano, Angela M (2016) Site-specific genome editing for correction of induced pluripotent stem cells derived from dominant dystrophic epidermolysis bullosa. Proc Natl Acad Sci U S A 113:5676-81
Kim, Arianna L; Back, Jung Ho; Zhu, Yucui et al. (2016) AKT1 Activation is Obligatory for Spontaneous BCC Tumor Growth in a Murine Model that Mimics Some Features of Basal Cell Nevus Syndrome. Cancer Prev Res (Phila) 9:794-802
Sun, Xiaoyun; Kim, Arianna; Nakatani, Masashi et al. (2016) Distinctive molecular responses to ultraviolet radiation between keratinocytes and melanocytes. Exp Dermatol 25:708-13

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