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  • Lyons, OliverSt Thomas Hosp, Sch Cardiovasc Med & Sci, BHF Ctr Res Excellence, Acad Dept Vasc Surg,Sect Vasc Risk & Surg,Kings C, London, England. (author)

Mutations in EPHB4 cause human venous valve aplasia

  • Article/chapterEnglish2021

Publisher, publication year, extent ...

  • 2021-09-22
  • American Society For Clinical Investigation,2021
  • electronicrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-457635
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-457635URI
  • https://doi.org/10.1172/jci.insight.140952DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Venous valve (VV) failure causes chronic venous insufficiency, but the molecular regulation of valve development is poorly understood. A primary lymphatic anomaly, caused by mutations in the receptor tyrosine kinase EPHB4, was recently described, with these patients also presenting with venous insufficiency. Whether the venous anomalies are the result of an effect on VVs is not known. VV formation requires complex "organization" of valve-forming endothelial cells, including their reorientation perpendicular to the direction of blood flow. Using quantitative ultrasound, we identified substantial VV aplasia and deep venous reflux in patients with mutations in EPHB4. We used a GFP reporter in mice to study expression of its ligand, ephrinB2, and analyzed developmental phenotypes after conditional deletion of floxed Ephb4 and Efnb2 alleles. EphB4 and ephrinB2 expression patterns were dynamically regulated around organizing valve-forming cells. Efnb2 deletion disrupted the normal endothelial expression patterns of the gap junction proteins connexin37 and connexin43 (both required for normal valve development) around reorientating valve-forming cells and produced deficient valve-forming cell elongation, reorientation, polarity, and proliferation. Ephb4 was also required for valve-forming cell organization and subsequent growth of the valve leaflets. These results uncover a potentially novel cause of primary human VV aplasia.

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  • Walker, JamesSt Thomas Hosp, Sch Cardiovasc Med & Sci, BHF Ctr Res Excellence, Acad Dept Vasc Surg,Sect Vasc Risk & Surg,Kings C, London, England. (author)
  • Seet, ChristopherSt Thomas Hosp, Sch Cardiovasc Med & Sci, BHF Ctr Res Excellence, Acad Dept Vasc Surg,Sect Vasc Risk & Surg,Kings C, London, England. (author)
  • Ikram, MohammedSt Thomas Hosp, Sch Cardiovasc Med & Sci, BHF Ctr Res Excellence, Acad Dept Vasc Surg,Sect Vasc Risk & Surg,Kings C, London, England. (author)
  • Kuchta, AdamGuys & St Thomas NHS Fdn Trust, Dept Ultrason Angiol, London, England. (author)
  • Arnold, AndrewGuys & St Thomas NHS Fdn Trust, Dept Ultrason Angiol, London, England. (author)
  • Hernandez Vasquez, MagdaUppsala universitet,Vaskulärbiologi,Rudbecklaboratoriet(Swepub:uu)maghe520 (author)
  • Frye, MaikeUppsala universitet,Vaskulärbiologi,Rudbecklaboratoriet(Swepub:uu)maifr330 (author)
  • Vizcay-Barrena, GemaKings Coll London, Ctr Ultrastruct Imaging, London, England. (author)
  • Fleck, Roland A.Kings Coll London, Ctr Ultrastruct Imaging, London, England. (author)
  • Patel, Ashish S.St Thomas Hosp, Sch Cardiovasc Med & Sci, BHF Ctr Res Excellence, Acad Dept Vasc Surg,Sect Vasc Risk & Surg,Kings C, London, England. (author)
  • Padayachee, SoundrieGuys & St Thomas NHS Fdn Trust, Dept Ultrason Angiol, London, England. (author)
  • Mortimer, PeterSt Georges Univ London, Mol & Clin Sci Res Inst, London, England. (author)
  • Jeffery, SteveSt Georges Univ London, Mol & Clin Sci Res Inst, London, England. (author)
  • Berland, SirenHaukeland Hosp, Dept Med Genet, Bergen, Norway. (author)
  • Mansour, SaharSt Georges Univ London, Mol & Clin Sci Res Inst, London, England.;St George Hosp, South West Thames Reg Genet Serv, London, England. (author)
  • Ostergaard, PiaSt Georges Univ London, Mol & Clin Sci Res Inst, London, England. (author)
  • Mäkinen, TaijaUppsala universitet,Vaskulärbiologi,Rudbecklaboratoriet(Swepub:uu)taima352 (author)
  • Modarai, BijanSt Thomas Hosp, Sch Cardiovasc Med & Sci, BHF Ctr Res Excellence, Acad Dept Vasc Surg,Sect Vasc Risk & Surg,Kings C, London, England. (author)
  • Saha, PrakashSt Thomas Hosp, Sch Cardiovasc Med & Sci, BHF Ctr Res Excellence, Acad Dept Vasc Surg,Sect Vasc Risk & Surg,Kings C, London, England. (author)
  • Smith, AlbertoSt Thomas Hosp, Sch Cardiovasc Med & Sci, BHF Ctr Res Excellence, Acad Dept Vasc Surg,Sect Vasc Risk & Surg,Kings C, London, England. (author)
  • St Thomas Hosp, Sch Cardiovasc Med & Sci, BHF Ctr Res Excellence, Acad Dept Vasc Surg,Sect Vasc Risk & Surg,Kings C, London, England.Guys & St Thomas NHS Fdn Trust, Dept Ultrason Angiol, London, England. (creator_code:org_t)

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  • In:JCI Insight: American Society For Clinical Investigation6:182379-3708

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