S
Sue Kenwrick
Researcher at University of Cambridge
Publications - 21
Citations - 2247
Sue Kenwrick is an academic researcher from University of Cambridge. The author has contributed to research in topics: Incontinentia pigmenti & Gene. The author has an hindex of 17, co-authored 21 publications receiving 2167 citations. Previous affiliations of Sue Kenwrick include Baylor College of Medicine.
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X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
Rainer Doffinger,Asma Smahi,Christine Bessia,Frederic Geissmann,Jacqueline Feinberg,Anne Durandy,Christine Bodemer,Sue Kenwrick,Sophie Dupuis-Girod,Stéphane Blanche,Philip A. Wood,Smail Hadj Rabia,Denis J. Headon,Paul A. Overbeek,Françoise Le Deist,Steven M. Holland,Kiran Belani,Dinakantha S. Kumararatne,Alain Fischer,Ralph S. Shapiro,Mary Ellen Conley,Eric Reimund,Hermann Kalhoff,Mario Abinun,Arnold Munnich,Alain Israël,Gilles Courtois,Jean-Laurent Casanova +27 more
TL;DR: It is reported for the first time that impaired but not abolished NF-κB signaling in humans results in two related syndromes that associate specific developmental and immunological defects.
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Neural cell recognition molecule L1: relating biological complexity to human disease mutations
TL;DR: This review will summarize how the analysis of pathological mutations in L1 is complementing the study of mouse models and in vitro analysis of L1 function.
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Cis and trans interactions of L1 with neuropilin‐1 control axonal responses to semaphorin 3A
TL;DR: It is shown that the reversion of Sema3A is initiated by a specific trans binding of L1 to NP‐1, but not to L1 or other Ig CAMs, and leads to activation of the NO/cGMP pathway.
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A recurrent deletion in the ubiquitously expressed NEMO (IKK-γ) gene accounts for the vast majority of incontinentia pigmenti mutations
Swaroop Aradhya,Hayley Woffendin,T. Jakins,Tiziana Bardaro,Teresa Esposito,A. Smahi,Christine J. Shaw,Moise L. Levy,Arnold Munnich,Michele D'Urso,Richard A. Lewis,Sue Kenwrick,David L. Nelson +12 more
TL;DR: expression analysis of human and mouse NEMO/Nemo showed that the gene becomes active early during embryogenesis and is expressed ubiquitously, confirming the involvement of NEMo in IP and will help elucidate the mechanism underlying the manifestation of this disorder and the in vivo function of N EMO.
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Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities
Elena De Angelis,John MacFarlane,Jian-Sheng Du,Giles S.H. Yeo,Ray Hicks,Fritz G. Rathjen,Sue Kenwrick,Thomas Brümmendorf +7 more
TL;DR: The effects of 12 missense mutations on binding to L1, axonin‐1 and F11 are studied and it is shown for the first time that whereas many mutations affect all three interactions, others affect homophilic or heterophilic binding alone.