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EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis

Martin-Almedina, Silvia (author)
St Georges Univ London, Cardiovasc & Cell Sci Inst, Lymphovasc Res Unit, Cranmer Terrace, London SW17 0RE, England.
Martinez-Corral, Ines (author)
Uppsala universitet,Vaskulärbiologi
Holdhus, Rita (author)
Univ Bergen, Dept Clin Sci, Genom Core Facil, Bergen, Norway.
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Vicente, Andres (author)
Canc Res UK London Res Inst, Lymphat Dev Lab, London, England.;UCL Inst Neurol, Dept Clin & Expt Epilepsy, Queen Sq, London, England.
Fotiou, Elisavet (author)
St Georges Univ London, Cardiovasc & Cell Sci Inst, Lymphovasc Res Unit, Cranmer Terrace, London SW17 0RE, England.
Lin, Shin (author)
Stanford Univ, Div Cardiovasc Med, Stanford, CA 94305 USA.;Stanford Univ, Dept Genet, Stanford, CA 94305 USA.
Petersen, Kjell (author)
Univ Bergen, Dept Informat, Computat Biol Unit, Bergen, Norway.
Simpson, Michael A. (author)
Kings Coll London, Guys Hosp, Sch Med, Div Genet & Mol Med, London, England.
Hoischen, Alexander (author)
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.
Gilissen, Christian (author)
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands.;Radboud Univ Nijmegen, Med Ctr, Donders Ctr Neurosci, Nijmegen, Netherlands.
Jeffery, Heather (author)
St Georges Univ London, Cardiovasc & Cell Sci Inst, Lymphovasc Res Unit, Cranmer Terrace, London SW17 0RE, England.
Atton, Giles (author)
St Georges Univ London, South West Thames Reg Genet Unit, London, England.
Karapouliou, Christina (author)
St Georges Univ London, Cardiovasc & Cell Sci Inst, Lymphovasc Res Unit, Cranmer Terrace, London SW17 0RE, England.
Brice, Glen (author)
St Georges Univ London, South West Thames Reg Genet Unit, London, England.
Gordon, Kristiana (author)
St Georges Univ Hosp NHS Fdn Trust, Dept Dermatol, London, England.
Wiseman, John W. (author)
AstraZeneca R&D, RAD Transgen, Discovery Sci, Molndal, Sweden.
Wedin, Marianne (author)
AstraZeneca R&D, RAD Transgen, Discovery Sci, Molndal, Sweden.
Rockson, Stanley G. (author)
Stanford Univ, Div Cardiovasc Med, Stanford, CA 94305 USA.
Jeffery, Steve (author)
St Georges Univ London, Cardiovasc & Cell Sci Inst, Lymphovasc Res Unit, Cranmer Terrace, London SW17 0RE, England.
Mortimer, Peter S. (author)
St Georges Univ London, Cardiovasc & Cell Sci Inst, Lymphovasc Res Unit, Cranmer Terrace, London SW17 0RE, England.
Snyder, Michael P. (author)
Stanford Univ, Dept Genet, Stanford, CA 94305 USA.
Berland, Siren (author)
Haukeland Hosp, Ctr Med Genet & Mol Med, Bergen, Norway.
Mansour, Sahar (author)
St Georges Univ London, South West Thames Reg Genet Unit, London, England.
Mäkinen, Taija (author)
Uppsala universitet,Vaskulärbiologi
Ostergaard, Pia (author)
St Georges Univ London, Cardiovasc & Cell Sci Inst, Lymphovasc Res Unit, Cranmer Terrace, London SW17 0RE, England.
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St Georges Univ London, Cardiovasc & Cell Sci Inst, Lymphovasc Res Unit, Cranmer Terrace, London SW17 0RE, England Vaskulärbiologi (creator_code:org_t)
2016
2016
English.
In: Journal of Clinical Investigation. - 0021-9738 .- 1558-8238. ; 126:8, s. 3080-3088
Related links:
https://uu.diva-port... (primary) (Raw object)
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https://urn.kb.se/re...
https://doi.org/10.1...
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine (hsv//eng)

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