Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis

@inproceedings{Peled2016MutationsIT,
  title={Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis},
  author={Alon Peled and Ofer Sarig and Liat Samuelov and Marta Bertolini and Limor Ziv and Daphna Weissglas-Volkov and Marina Eskin-Schwartz and Christopher A Adase and Natalia Malchin and Ron Bochner and Gilad Fainberg and Ilan Goldberg and Koji Sugawara and Avital Baniel and Daisuke Tsuruta and Chen Luxenburg and Noam Adir and Olivier Duverger and Maria I Morasso and Stavit Allon Shalev and Richard L Gallo and Noam Shomron and Ralf Paus and Eli Sprecher},
  booktitle={PLoS genetics},
  year={2016}
}
Despite recent advances in our understanding of the pathogenesis of ectodermal dysplasias (EDs), the molecular basis of many of these disorders remains unknown. In the present study, we aimed at elucidating the genetic basis of a new form of ED featuring facial dysmorphism, scalp hypotrichosis and hypodontia. Using whole exome sequencing, we identified 2 frameshift and 2 missense mutations in TSPEAR segregating with the disease phenotype in 3 families. TSPEAR encodes the thrombospondin-type… CONTINUE READING
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