J
Jane Hartley
Researcher at Boston Children's Hospital
Publications - 53
Citations - 1469
Jane Hartley is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Medicine & Liver disease. The author has an hindex of 13, co-authored 35 publications receiving 1273 citations. Previous affiliations of Jane Hartley include University of Birmingham & National Health Service.
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Journal ArticleDOI
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Erica E. Davis,Qi Zhang,Qin Liu,Bill H. Diplas,Lisa Davey,Jane Hartley,Corinne Stoetzel,Katarzyna Szymanska,Gokul Ramaswami,Clare V. Logan,Donna M. Muzny,Alice C. Young,David A. Wheeler,Pedro Cruz,Margaret Morgan,Lora Lewis,Praveen F. Cherukuri,Baishali Maskeri,Nancy F. Hansen,James C. Mullikin,Robert W. Blakesley,Gerard G. Bouffard,Gabor Gyapay,Susanne Rieger,Burkhard Tönshoff,Ilse Kern,Neveen A. Soliman,Thomas J. Neuhaus,Kathryn J. Swoboda,Hülya Kayserili,Tomas E. Gallagher,Richard A. Lewis,Carsten Bergmann,Edgar A. Otto,Sophie Saunier,Peter J. Scambler,Philip L. Beales,Joseph G. Gleeson,Eamonn R. Maher,Tania Attié-Bitach,Hélène Dollfus,Colin A. Johnson,Eric D. Green,Richard A. Gibbs,Friedhelm Hildebrandt,Eric A. Pierce,Nicholas Katsanis,Nicholas Katsanis +47 more
TL;DR: It is shown that mutations in TTC21B, which encodes the retrograde intraflagellar transport protein IFT139, cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy.
Journal ArticleDOI
IFT80 , which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy
Philip L. Beales,Elizabeth Bland,Jonathan L. Tobin,Chiara Bacchelli,Beyhan Tüysüz,Josephine Hill,Suzanne Rix,Chad G. Pearson,Masatake Kai,Jane Hartley,Colin A. Johnson,Melita Irving,Nursel Elcioglu,Mark Winey,Masazumi Tada,Peter J. Scambler +15 more
TL;DR: It is shown that IFT80 mutations underlie a subset of Jeune asphyxiating thoracic dystrophy cases, establishing the first association of a defective intraflagellar transport (IFT) protein with human disease.
Journal ArticleDOI
The SKIV2L RNA exosome limits activation of the RIG-I-like receptors
Sterling C Eckard,Gillian I. Rice,Alexandre Fabre,Catherine Badens,Elizabeth E. Gray,Jane Hartley,Yanick J. Crow,Daniel B. Stetson +7 more
TL;DR: It is found that the SKIV2L RNA exosome potently limited the activation of RLRs, revealing a mechanism for the intracellular metabolism of immunostimulatory RNA, with implications for specific autoimmune disorders.
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Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
Jan Halbritter,Albane A. Bizet,Miriam Schmidts,Jonathan D. Porath,Daniela A. Braun,Heon Yung Gee,Aideen M. McInerney-Leo,Pauline Krug,Emilie Filhol,Erica E. Davis,Rannar Airik,Peter G. Czarnecki,Peter G. Czarnecki,Anna Lehman,Peter Trnka,Patrick Nitschke,Christine Bole-Feysot,Markus Schueler,Bertrand Knebelmann,Stéphane Burtey,Attila Szabo,Kálmán Tory,Paul Leo,Brooke Gardiner,Fiona Haslam McKenzie,Andreas Zankl,Andreas Zankl,Matthew A. Brown,Jane Hartley,Eamonn R. Maher,Eamonn R. Maher,Chunmei Li,Michel R. Leroux,Peter J. Scambler,Shing Hei Zhan,Steven J.M. Jones,Hülya Kayserili,Beyhan Tüysüz,Khemchand N. Moorani,Alexandru Constantinescu,Ian D. Krantz,Bernard S. Kaplan,Jagesh V. Shah,Jagesh V. Shah,Toby W. Hurd,Dan Doherty,Nicholas Katsanis,Emma L. Duncan,Emma L. Duncan,Emma L. Duncan,Edgar A. Otto,Philip L. Beales,Hannah M. Mitchison,Sophie Saunier,Friedhelm Hildebrandt,Friedhelm Hildebrandt +55 more
TL;DR: In this article, the authors identify defects in IFT-B components as a cause of complex thoracic dystrophy and MZSDS, and link the group of skeletal ciliopathies to an additional IFTB component, IFT172, similar to what has been shown for IFTA.
Journal ArticleDOI
Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)
Jane Hartley,Nicholas C. Zachos,Ban B. Dawood,Mark Donowitz,Julia R. Forman,Rodney J. Pollitt,Neil V. Morgan,Louise Tee,Paul Gissen,Walter H. A. Kahr,A. S. Knisely,Steve P. Watson,David Chitayat,Ian W. Booth,Sue Protheroe,Stephen Murphy,Esther de Vries,Deirdre Kelly,Eamonn R. Maher +18 more
TL;DR: THES is caused by mutations in TTC37, which encodes the uncharacterized tetratricopeptide repeat protein, thespin, andBioinformatic analysis suggested thespin to be involved in protein-protein interactions or chaperone.