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Sökning: WFRF:(Vicente Silvia) > (2016) > EPHB4 kinase-inacti...

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FältnamnIndikatorerMetadata
00005875naa a2200577 4500
001oai:DiVA.org:uu-304428
003SwePub
008161005s2016 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3044282 URI
0247 a https://doi.org/10.1172/JCI857942 DOI
040 a (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Martin-Almedina, Silviau St Georges Univ London, Cardiovasc & Cell Sci Inst, Lymphovasc Res Unit, Cranmer Terrace, London SW17 0RE, England.4 aut
2451 0a EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis
264 1c 2016
338 a electronic2 rdacarrier
520 a Hydrops fetalis describes fluid accumulation in at least 2 fetal compartments, including abdominal cavities, pleura, and pericardium, or in body tissue. The majority of hydrops fetalis cases are nonimmune conditions that present with generalized edema of the fetus, and approximately 15% of these nonimmune cases result from a lymphatic abnormality. Here, we have identified an autosomal dominant, inherited form of lymphatic-related (nonimmune) hydrops fetalis (LRHF). Independent exome sequencing projects on 2 families with a history of in utero and neonatal deaths associated with nonimmune hydrops fetalis uncovered 2 heterozygous missense variants in the gene encoding Eph receptor B4 (EPHB4). Biochemical analysis determined that the mutant EPHB4 proteins are devoid of tyrosine kinase activity, indicating that loss of EPHB4 signaling contributes to LRHF pathogenesis. Further, inactivation of Ephb4 in lymphatic endothelial cells of developing mouse embryos led to defective lymphovenous valve formation and consequent subcutaneous edema. Together, these findings identify EPHB4 as a critical regulator of early lymphatic vascular development and demonstrate that mutations in the gene can cause an autosomal dominant form of LRHF that is associated with a high mortality rate.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicin0 (SwePub)3022 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicine0 (SwePub)3022 hsv//eng
7001 a Martinez-Corral, Inesu Uppsala universitet,Vaskulärbiologi4 aut0 (Swepub:uu)inema117
7001 a Holdhus, Ritau Univ Bergen, Dept Clin Sci, Genom Core Facil, Bergen, Norway.4 aut
7001 a Vicente, Andresu Canc Res UK London Res Inst, Lymphat Dev Lab, London, England.;UCL Inst Neurol, Dept Clin & Expt Epilepsy, Queen Sq, London, England.4 aut
7001 a Fotiou, Elisavetu St Georges Univ London, Cardiovasc & Cell Sci Inst, Lymphovasc Res Unit, Cranmer Terrace, London SW17 0RE, England.4 aut
7001 a Lin, Shinu Stanford Univ, Div Cardiovasc Med, Stanford, CA 94305 USA.;Stanford Univ, Dept Genet, Stanford, CA 94305 USA.4 aut
7001 a Petersen, Kjellu Univ Bergen, Dept Informat, Computat Biol Unit, Bergen, Norway.4 aut
7001 a Simpson, Michael A.u Kings Coll London, Guys Hosp, Sch Med, Div Genet & Mol Med, London, England.4 aut
7001 a Hoischen, Alexanderu Univ Bergen, Dept Clin Sci, Genom Core Facil, Bergen, Norway.;Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands.;Radboud Univ Nijmegen, Med Ctr, Donders Ctr Neurosci, Nijmegen, Netherlands.4 aut
7001 a Gilissen, Christianu Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands.;Radboud Univ Nijmegen, Med Ctr, Donders Ctr Neurosci, Nijmegen, Netherlands.4 aut
7001 a Jeffery, Heatheru St Georges Univ London, Cardiovasc & Cell Sci Inst, Lymphovasc Res Unit, Cranmer Terrace, London SW17 0RE, England.4 aut
7001 a Atton, Gilesu St Georges Univ London, South West Thames Reg Genet Unit, London, England.4 aut
7001 a Karapouliou, Christinau St Georges Univ London, Cardiovasc & Cell Sci Inst, Lymphovasc Res Unit, Cranmer Terrace, London SW17 0RE, England.4 aut
7001 a Brice, Glenu St Georges Univ London, South West Thames Reg Genet Unit, London, England.4 aut
7001 a Gordon, Kristianau St Georges Univ Hosp NHS Fdn Trust, Dept Dermatol, London, England.4 aut
7001 a Wiseman, John W.u AstraZeneca R&D, RAD Transgen, Discovery Sci, Molndal, Sweden.4 aut
7001 a Wedin, Marianneu AstraZeneca R&D, RAD Transgen, Discovery Sci, Molndal, Sweden.4 aut
7001 a Rockson, Stanley G.u Stanford Univ, Div Cardiovasc Med, Stanford, CA 94305 USA.4 aut
7001 a Jeffery, Steveu St Georges Univ London, Cardiovasc & Cell Sci Inst, Lymphovasc Res Unit, Cranmer Terrace, London SW17 0RE, England.4 aut
7001 a Mortimer, Peter S.u St Georges Univ London, Cardiovasc & Cell Sci Inst, Lymphovasc Res Unit, Cranmer Terrace, London SW17 0RE, England.4 aut
7001 a Snyder, Michael P.u Stanford Univ, Dept Genet, Stanford, CA 94305 USA.4 aut
7001 a Berland, Sirenu Haukeland Hosp, Ctr Med Genet & Mol Med, Bergen, Norway.4 aut
7001 a Mansour, Saharu St Georges Univ London, South West Thames Reg Genet Unit, London, England.4 aut
7001 a Mäkinen, Taijau Uppsala universitet,Vaskulärbiologi4 aut0 (Swepub:uu)taima352
7001 a Ostergaard, Piau St Georges Univ London, Cardiovasc & Cell Sci Inst, Lymphovasc Res Unit, Cranmer Terrace, London SW17 0RE, England.4 aut
7102 a St Georges Univ London, Cardiovasc & Cell Sci Inst, Lymphovasc Res Unit, Cranmer Terrace, London SW17 0RE, England.b Vaskulärbiologi4 org
7730 t Journal of Clinical Investigationg 126:8, s. 3080-3088q 126:8<3080-3088x 0021-9738x 1558-8238
8564 u https://uu.diva-portal.org/smash/get/diva2:1033139/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-304428
8564 8u https://doi.org/10.1172/JCI85794

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