University of Aberdeen logo

AURA - Aberdeen University Research Archive

 

Genetic association and characterization of FSTL5 in isolated clubfoot

Simple item page
dc.contributor.authorKhanshour, Anas M
dc.contributor.authorKidane, Yared
dc.contributor.authorKozlitina, Julia
dc.contributor.authorCornelia, Reuel
dc.contributor.authorRafipay, Alexandra
dc.contributor.authorDe Mello, Vanessa
dc.contributor.authorWeston, Mitchell
dc.contributor.authorParia, Nandina
dc.contributor.authorKhalid, Aysha
dc.contributor.authorHecht, Jacqueline T
dc.contributor.authorDobbs, Matthew B
dc.contributor.authorRichards, B. Stephens
dc.contributor.authorVargesson, Neil
dc.contributor.authorKent Hamra, F
dc.contributor.authorWilson, Megan
dc.contributor.authorWise, Carol
dc.contributor.authorGurnett, Christina A
dc.contributor.authorRios, Jonathan J
dc.contributor.institutionUniversity of Aberdeen.Medical Sciencesen
dc.contributor.institutionUniversity of Aberdeen.Medical Sciences - Cell, Developmental and Cancer Biologyen
dc.date.accessioned2021-10-25T23:04:39Z
dc.date.available2021-10-25T23:04:39Z
dc.date.embargoedUntil2021-10-26
dc.date.issued2020-11-15
dc.descriptionACKNOWLEDGEMENTS: The Atherosclerosis Risk in Communities Study is carried out as a collaborative study supported by National Heart, Lung, and Blood Institute contracts (HHSN268201100005C, HHSN268201100006C, HHSN268201100007C, HHSN268201100008C, HHSN268201100009C, HHSN268201100010C, HHSN268201100011C, and HHSN268201100012C). The authors thank the staff and participants of the ARIC study for their important contributions. Funding for GENEVA was provided by National Human Genome Research Institute grant U01HG004402 (E.Boerwinkle). We thank H. Hobbs and J. Cohen for contributing control samples for replication genotyping, Nadav Ahituv for sharing RNA-seq data for both bat and mouse embryonic limb buds, Tommy Hyatt for designing the custom genotyping assay, and members of the UT Southwestern Transgenic Core facility, including John Ritter, Mylinh Nguyen, and Robert Hammer. Publicly available mouse embryonic expression analysis results were provided online at https://oncoscape.v3.sttrcancer.org/atlas.gs.washington.edu.mouse.rna/landing (24). The authors acknowledge the contributions and support of the Center for Excellence in Clubfoot Research at Scottish Rite for Children, including Shawne Faulks and Kristhen Atala. Fstl5 mutant rats were produced by the NIH Mutant Rat Resource at UT Southwestern Medical Center (R24RR03232601, R24OD011108, R01HD036022, and (5R01HD053889). This study was supported by funding from the Scottish Rite for Children Research Fund (J.J.R.), Shriners Hospital for Children (J.T.H), and the National Institutes of Health award R01HD043342 (J.T.H.).en
dc.description.statusPeer revieweden
dc.format.extent12
dc.format.extent413571
dc.identifier177761151
dc.identifierb854433c-11c0-4d36-bd20-556d226f443c
dc.identifier85100357833
dc.identifier000634700600010
dc.identifier.citationKhanshour, A M, Kidane, Y, Kozlitina, J, Cornelia, R, Rafipay, A, De Mello, V, Weston, M, Paria, N, Khalid, A, Hecht, J T, Dobbs, M B, Richards, B S, Vargesson, N, Kent Hamra, F, Wilson, M, Wise, C, Gurnett, C A & Rios, J J 2020, 'Genetic association and characterization of FSTL5 in isolated clubfoot', Human Molecular Genetics, vol. 29, no. 22, pp. 3717-3728. https://doi.org/10.1093/hmg/ddaa236en
dc.identifier.doi10.1093/hmg/ddaa236
dc.identifier.iss22en
dc.identifier.issn0964-6906
dc.identifier.otherORCID: /0000-0001-8027-114X/work/145270753
dc.identifier.urihttps://hdl.handle.net/2164/17391
dc.identifier.vol29en
dc.language.isoeng
dc.relation.ispartofHuman Molecular Geneticsen
dc.subjectgenome-wide association studyen
dc.subjectclubfooten
dc.subjectFSTL5en
dc.subjectimputationen
dc.subjectR Medicineen
dc.subject.lccRen
dc.titleGenetic association and characterization of FSTL5 in isolated clubfooten
dc.typeJournal articleen

Files

Original bundle

Now showing 1 - 1 of 1
Thumbnail Image
Name:
Khanshour_et_al_HMG_GeneticAssociationAnd_AAM.pdf
Size:
403.88 KB
Format:
Adobe Portable Document Format
Download

Collections

All research

The Sir Duncan Rice Library

University of Aberdeen

Bedford Road

Aberdeen

AB24 3AA


Tel: +44 (0)1224 273330

Email: library@abdn.ac.uk

Share and keep up to date


FacebookTwitterWordpress