C
Celeste G Nelson
Researcher at National Institutes of Health
Publications - 7
Citations - 375
Celeste G Nelson is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Allele & Atopic dermatitis. The author has an hindex of 5, co-authored 7 publications receiving 249 citations.
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Journal ArticleDOI
Germline hypomorphic CARD11 mutations in severe atopic disease
Chi Ma,Jeffrey R. Stinson,Yuan Zhang,Jordan K. Abbott,Michael A. Weinreich,Pia J. Hauk,Paul R. Reynolds,Jonathan J. Lyons,Celeste G Nelson,Elisa Ruffo,Batsukh Dorjbal,Salomé Glauzy,Natsuko Yamakawa,Swadhinya Arjunaraja,Kelsey Voss,Jennifer Stoddard,Julie E. Niemela,Yu Zhang,Sergio D. Rosenzweig,Joshua J McElwee,Thomas DiMaggio,Helen F. Matthews,Nina Jones,Kelly D. Stone,Alejandro Palma,Matías Oleastro,Emma Prieto,Andrea Bernasconi,Geronimo Dubra,Silvia Danielian,Jonathan Zaiat,Marcelo A. Martí,Brian S. Kim,Megan A. Cooper,Neil Romberg,Eric Meffre,Erwin W. Gelfand,Andrew L. Snow,Joshua D. Milner +38 more
TL;DR: It is shown that a single hypomorphic mutation in CARD11 can cause potentially correctable cellular defects that lead to atopic dermatitis, and this data indicates that monogenic causes for severe manifestations of common allergic diseases have been identified.
Journal ArticleDOI
Hypomorphic caspase activation and recruitment domain 11 ( CARD11 ) mutations associated with diverse immunologic phenotypes with or without atopic disease
Batsukh Dorjbal,Jeffrey R. Stinson,Chi Ma,Michael A. Weinreich,Bahar Miraghazadeh,Julia M. Hartberger,Stefanie Frey-Jakobs,Stephan Weidinger,Lena Moebus,Andre Franke,Alejandro A. Schäffer,Alla Bulashevska,Sebastian Fuchs,Stephan Ehl,Sandhya Limaye,Peter D. Arkwright,Tracy A Briggs,Claire Langley,Claire Bethune,Andrew F. Whyte,Hana Alachkar,Sergey Nejentsev,Thomas DiMaggio,Celeste G Nelson,Kelly D. Stone,Martha Nason,Erica Brittain,Andrew J. Oler,Daniel Veltri,T. Ronan Leahy,Niall Conlon,Maria Cecilia Poli,Arturo Borzutzky,Jeffrey I. Cohen,Joie Davis,Michele P. Lambert,Neil Romberg,Kathleen E. Sullivan,Kenneth Paris,Alexandra F. Freeman,Laura Lucas,Shanmuganathan Chandrakasan,Sinisa Savic,Sophie Hambleton,Smita Y. Patel,Michael B. Jordan,Amy Theos,Jeffrey D. Lebensburger,T. Prescott Atkinson,Troy R. Torgerson,Ivan K. Chinn,Joshua D. Milner,Bodo Grimbacher,Matthew C. Cook,Andrew L. Snow +54 more
TL;DR: A broader phenotypic spectrum associated with CARD11 mutations in human subjects is illuminated and the need for functional studies to demonstrate that rare gene variants encountered in expected and unexpected phenotypes must nonetheless be validated for pathogenic activity is underscored.
Journal ArticleDOI
ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.
Jonathan J. Lyons,Yihui Liu,Chi Ma,Xiaomin Yu,Michael P. O'Connell,Monica G. Lawrence,Yuan Zhang,Kendal A. Karpe,Ming Zhao,Andrea M. Siegel,Kelly D. Stone,Celeste G Nelson,Nina Jones,Tom DiMaggio,Dirk Darnell,E. Mendoza-Caamal,L. Orozco,Jason D. Hughes,Joshua McElwee,Robert J. Hohman,Pamela A. Frischmeyer-Guerrerio,Marc E. Rothenberg,Alexandra F. Freeman,Steve M. Holland,Joshua D. Milner +24 more
TL;DR: It is shown that STAT3 negatively regulates TGF-&bgr; signaling via ERBB2-interacting protein (ERBIN), a SMAD anchor for receptor activation and SMAD2/3 binding protein, which can induce expression and activation of the IL-4/IL-4R&agr;/GATA3 axis in vitro.
Journal ArticleDOI
Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis.
Alon Peled,Alon Peled,Ofer Sarig,Guangping Sun,Liat Samuelov,Liat Samuelov,Chi Ma,Yuan Zhang,Tom DiMaggio,Celeste G Nelson,Kelly D. Stone,Alexandra F. Freeman,Liron Malki,Lucia Seminario Vidal,Latha M. Chamarthy,Valeria Briskin,J. Mohamad,J. Mohamad,Mor Pavlovsky,Jolan E. Walter,Joshua D. Milner,Eli Sprecher,Eli Sprecher +22 more
TL;DR: Although dominant gain‐of‐function mutations in CARD14 are associated with psoriasis and related diseases, loss‐of- function mutations in the same gene are associated in 4 patients with a severe variant of AD.
Journal ArticleDOI
Correction: ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.
Jonathan J. Lyons,Yihui Liu,Chi Ma,Xiaomin Yu,Michael P. O'Connell,Monica G. Lawrence,Yuan Zhang,Kendal A. Karpe,Ming Zhao,Andrea M. Siegel,Kelly D. Stone,Celeste G Nelson,Nina Jones,Tom DiMaggio,Dirk Darnell,E. Mendoza-Caamal,L. Orozco,Jason D. Hughes,Joshua McElwee,Robert J. Hohman,Pamela A. Frischmeyer-Guerrerio,Marc E. Rothenberg,Alexandra F. Freeman,Steven M. Holland,Joshua D. Milner +24 more
TL;DR: The results obtained allow us to assess the importance of knowing the carrier and removal status of canine coronavirus, as a source of infection for other animals, not necessarily belonging to the same breeds.