T
T. Jakins
Researcher at University of Cambridge
Publications - 8
Citations - 1166
T. Jakins is an academic researcher from University of Cambridge. The author has contributed to research in topics: Incontinentia pigmenti & IKBKG. The author has an hindex of 7, co-authored 8 publications receiving 1100 citations.
Papers
More filters
Journal ArticleDOI
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.
A. Smahi,Gilles Courtois,Pierre Vabres,Shoji Yamaoka,S. Heuertz,Arnold Munnich,Alain Israël,Nina S. Heiss,Sabine M. Klauck,Petra Kioschis,Stefan Wiemann,Annemarie Poustka,Teresa Esposito,T. Bardaro,Fernando Gianfrancesco,Alfredo Ciccodicola,Michele D'Urso,Hayley Woffendin,T. Jakins,D. Donnai,H. Stewart,Susan Kenwrick,Swaroop Aradhya,Takanori Yamagata,Michael J. Levy,Richard A. Lewis,David L. Nelson +26 more
TL;DR: Most cases of familial incontinentia pigmenti are due to mutations of this locus and that a new genomic rearrangement accounts for 80% of new mutations, which means that NF-κB activation is defective in IP cells.
Journal ArticleDOI
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.
Journal ArticleDOI
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.
Susan Kenwrick,Hayley Woffendin,T. Jakins,S. Garry Shuttleworth,Eric Mayer,Lynn Greenhalgh,Joanne Whittaker,Simone Rugolotto,Tiziana Bardaro,Teresa Esposito,Michele D'Urso,Fiorenza Soli,Alberto Turco,A. Smahi,D. Hamel-Teillac,Stanislas Lyonnet,Jean-Paul Bonnefont,Arnold Munnich,Swaroop Aradhya,Catherine D. Kashork,Lisa G. Shaffer,David L. Nelson,Moise L. Levy,Richard A. Lewis +23 more
TL;DR: Four male patients with clinical hallmarks of IP were found to carry the deletion normally associated with male lethality in utero, and it was demonstrated that these patients have both wild-type and deleted copies of the NEMO gene and are therefore mosaic for the common mutation.
Journal ArticleDOI
Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection.
TL;DR: A NEMO stop codon mutation has been identified that has arisen de novo in his affected mother and may explain why this child survived for two years and 7 months with familial Incontinentia pigmenti.
Journal ArticleDOI
Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis
TL;DR: The results indicate the pathological basis of RS1 is intracellular retention of the majority of mutant proteins, which may explain why disease severity is not mutation-specific and in vitro expression of RS 1 may be a useful functional assay to investigate the pathogenicity of sequence changes within the RS1 gene.