Repository logo
 

Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.

Simple item page
cam.issuedOnline2018-09-19
dc.contributor.authorWestbury, Sarah K
dc.contributor.authorDownes, Kate
dc.contributor.authorBurney, Claire
dc.contributor.authorLozano, Maria L
dc.contributor.authorObaji, Samya G
dc.contributor.authorToh, Cheng Hock
dc.contributor.authorSevivas, Teresa
dc.contributor.authorMorgan, Neil V
dc.contributor.authorErber, Wendy N
dc.contributor.authorKempster, Carly
dc.contributor.authorMoore, Samantha F
dc.contributor.authorThys, Chantal
dc.contributor.authorPapadia, Sofia
dc.contributor.authorOuwehand, Willem H
dc.contributor.authorNIHR BioResource–Rare Diseases
dc.contributor.authorLaffan, Michael A
dc.contributor.authorGomez, Keith
dc.contributor.authorFreson, Kathleen
dc.contributor.authorRivera, Jose
dc.contributor.authorMumford, Andrew D
dc.contributor.orcidWestbury, Sarah K [0000-0002-0950-8148]
dc.contributor.orcidPapadia, Sofia [0000-0002-9222-3812]
dc.contributor.orcidGomez, Keith [0000-0002-8934-0700]
dc.date.accessioned2018-11-23T00:32:36Z
dc.date.available2018-11-23T00:32:36Z
dc.date.issued2018-09-25
dc.description.abstractDIAPH1-related disorder has a bilineage hematological phenotype of macrothrombocytopenia and neutropenia associated with hearing loss. Eltrombopag increased proplatelet formation from cultured DIAPH1-related disorder megakaryocytes and improved platelet counts in vivo.
dc.format.mediumPrint
dc.identifier.doi10.17863/CAM.33169
dc.identifier.eissn2473-9537
dc.identifier.issn2473-9529
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/285825
dc.languageeng
dc.language.isoeng
dc.publisherAmerican Society of Hematology
dc.publisher.urlhttp://dx.doi.org/10.1182/bloodadvances.2018020370
dc.subjectAdaptor Proteins, Signal Transducing
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAged
dc.subjectBiomarkers
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectFemale
dc.subjectFormins
dc.subjectGenetic Association Studies
dc.subjectHumans
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectPedigree
dc.subjectPhenotype
dc.subjectReceptors, Thrombopoietin
dc.subjectSignal Transduction
dc.subjectThrombocytopenia
dc.subjectYoung Adult
dc.titlePhenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.
dc.typeArticle
dcterms.dateAccepted2018-08-01
prism.endingPage2346
prism.issueIdentifier18
prism.publicationDate2018
prism.publicationNameBlood Adv
prism.startingPage2341
prism.volume2
rioxxterms.licenseref.startdate2018-09
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.typeJournal Article/Review
rioxxterms.versionAM
rioxxterms.versionofrecord10.1182/bloodadvances.2018020370

Files

Original bundle
Now showing 1 - 3 of 3
Thumbnail Image
Name:
Manuscript_ DIAPH1 series_vsFOR CIRCULATION.pdf
Size:
221.86 KB
Format:
Adobe Portable Document Format
Description:
Accepted version
Licence
http://www.rioxx.net/licenses/all-rights-reserved
Download
Thumbnail Image
Name:
Figure 1 vFOR_CIRCULATION.pdf
Size:
131.19 KB
Format:
Adobe Portable Document Format
Description:
Supporting information
Licence
http://www.rioxx.net/licenses/all-rights-reserved
Download
Thumbnail Image
Name:
Figure 2 vFOR_CIRCULATION.pdf
Size:
191.94 KB
Format:
Adobe Portable Document Format
Description:
Supporting information
Licence
http://www.rioxx.net/licenses/all-rights-reserved
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
DepositLicenceAgreementv2.1.pdf
Size:
150.9 KB
Format:
Adobe Portable Document Format
Download

Collections

Cambridge University Research Outputs