T
Theodora M. Mauro
Researcher at University of California, San Francisco
Publications - 146
Citations - 8065
Theodora M. Mauro is an academic researcher from University of California, San Francisco. The author has contributed to research in topics: Keratinocyte & Barrier function. The author has an hindex of 46, co-authored 136 publications receiving 7246 citations. Previous affiliations of Theodora M. Mauro include University of California, Davis & University of San Francisco.
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Journal ArticleDOI
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease
Zhilan Hu,Jeannette M. Bonifas,Jenna Beech,Graham Bench,Takako Shigihara,Hideoki Ogawa,Shigaku Ikeda,Theodora M. Mauro,Ervin H. Epstein +8 more
TL;DR: The identification of mutations in ATP2C1, encoding the human homologue of an ATP-powered pump that sequesters calcium into the Golgi in yeast, is reported in 21 HHD kindreds, providing an understanding of the molecular basis of HHD and underscore the importance of calcium control to the functioning of stratified squamous epithelia.
Journal ArticleDOI
Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma.
Nicholas J. Wang,Zachary Sanborn,Kelly L. Arnett,Laura J. Bayston,Wilson Liao,Charlotte M. Proby,Irene M. Leigh,Eric A. Collisson,Patricia B. Gordon,Lakshmi Jakkula,Sally D. Pennypacker,Yong Zou,Mimansa Sharma,Jeffrey P. North,Swapna S. Vemula,Theodora M. Mauro,Isaac M. Neuhaus,Philip E. LeBoit,Joe S Hur,Kyunghee Park,Nam Huh,Pui-Yan Kwok,Sarah T. Arron,Pierre P. Massion,Allen E. Bale,David Haussler,James E. Cleaver,Joe W. Gray,Paul T. Spellman,Andrew P. South,Jon C. Aster,Stephen C. Blacklow,Stephen C. Blacklow,Raymond J. Cho +33 more
TL;DR: The bifunctional role of Notch in human cancer thus emphasizes the context dependency of signaling outcomes and suggests that targeted inhibition of the Notch pathway may induce squamous epithelial malignancies.
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Marked Disturbance of Calcium Homeostasis in Mice With Targeted Disruption of the Trpv6 Calcium Channel Gene
Suzy D.C. Bianco,Ji-Bin Peng,Hitomi Takanaga,Yoshiro Suzuki,Alessandra Crescenzi,Claudine H. Kos,Liyan Zhuang,Michael R. Freeman,Cecilia H. A. Gouveia,Jiangping Wu,Hongyu Luo,Theodora M. Mauro,Edward M. Brown,Matthias A. Hediger +13 more
TL;DR: The phenotype of mice with targeted disruption of the Trpv6 (Trpv 6 KO) epithelial calcium channel exhibit disordered Ca2+ homeostasis, including defective intestinal Ca2- absorption, decreased BMD, deficient weight gain, and reduced fertility.
Journal ArticleDOI
Filaggrin deficiency confers a paracellular barrier abnormality that reduces inflammatory thresholds to irritants and haptens
Tiffany C. Scharschmidt,Mao-Qiang Man,Yutaka Hatano,Debra Crumrine,Roshan Gunathilake,John P. Sundberg,Kathleen A. Silva,Theodora M. Mauro,Melanie Hupe,Soyun Cho,Yan Wu,Anna Celli,Matthias Schmuth,Kenneth R. Feingold,Peter M. Elias +14 more
TL;DR: FLG deficiency alone provokes a paracellular barrier abnormality in mice that reduces inflammatory thresholds to topical irritants/haptens, likely accounting for enhanced antigen penetration in FLG-associated AD.
Journal ArticleDOI
Temporal Dissection of Tumorigenesis in Primary Cancers
Steffen Durinck,Christine Ho,Nicholas J. Wang,Wilson Liao,Lakshmi Jakkula,Eric A. Collisson,Jennifer Pons,Sai Wing Chan,Ernest T. Lam,Catherine Chu,Kyunghee Park,Sung-Woo Hong,Joe S Hur,Nam Huh,Isaac M. Neuhaus,Siegrid S. Yu,Roy C. Grekin,Theodora M. Mauro,James E. Cleaver,Pui-Yan Kwok,Philip E. LeBoit,Gad Getz,Kristian Cibulskis,Jon C. Aster,Haiyan Huang,Elizabeth Purdom,Jian Li,Jian Li,Lars Bolund,Lars Bolund,Sarah T. Arron,Joe W. Gray,Paul T. Spellman,Raymond J. Cho +33 more
TL;DR: This work integrates DNA sequence and copy number information to reconstruct the order of abnormalities as individual tumors evolve for 2 separate cancer types, and reframe paradigms in which TP53 mutation is required later, to bypass senescence induced by driver oncogenes.