| scholarly article | Q13442814 |
| P50 | author | Sheng Chih Jin | Q64358914 |
| Daniel Duran | Q41108469 | ||
| P2093 | author name string | Kristopher T Kahle | |
| Xue Zeng | |||
| Jonathan Gaillard | |||
| Ava Hunt | |||
| P2860 | cites work | Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas") | Q24292297 |
| A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy | Q24293294 | ||
| The Ras-RasGAP Complex: Structural Basis for GTPase Activation and Its Loss in Oncogenic Ras Mutants | Q24317051 | ||
| BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia | Q24318980 | ||
| Molecular Distinction and Angiogenic Interaction between Embryonic Arteries and Veins Revealed by ephrin-B2 and Its Receptor Eph-B4 | Q24336334 | ||
| Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations | Q24532144 | ||
| Hereditary haemorrhagic telangiectasia: a clinical and scientific review | Q24600839 | ||
| Roles of ephrinB ligands and EphB receptors in cardiovascular development: demarcation of arterial/venous domains, vascular morphogenesis, and sprouting angiogenesis | Q24608892 | ||
| A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells | Q24654323 | ||
| EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis. | Q27329626 | ||
| Architecture of Eph receptor clusters | Q27661948 | ||
| The molecular regulation of arteriovenous specification and maintenance | Q28088632 | ||
| Symmetrical mutant phenotypes of the receptor EphB4 and its specific transmembrane ligand ephrin-B2 in cardiovascular development | Q28145776 | ||
| Preliminary note on the differentiation of angioblasts and the method by which they produce blood-vessels, blood-plasma and red blood-cells as seen in the living chick. 1917 | Q28201647 | ||
| Structure and flexibility of the multiple domain proteins that regulate complement activation | Q28202582 | ||
| RASA1: variable phenotype with capillary and arteriovenous malformations | Q28252910 | ||
| Regulation of angiogenesis by Eph-ephrin interactions | Q28306625 | ||
| Vascular system defects and neuronal apoptosis in mice lacking ras GTPase-activating protein | Q28584833 | ||
| Bidirectional signaling mediated by ephrin-B2 and EphB2 controls urorectal development | Q28589702 | ||
| Notch1 activation in mice causes arteriovenous malformations phenocopied by ephrinB2 and EphB4 mutants | Q30493962 | ||
| Arterial-venous segregation by selective cell sprouting: an alternative mode of blood vessel formation. | Q30494377 | ||
| Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man. | Q30540127 | ||
| Expression of ephrinB2 identifies a stable genetic difference between arterial and venous vascular smooth muscle as well as endothelial cells, and marks subsets of microvessels at sites of adult neovascularization. | Q31847380 | ||
| The cytoplasmic domain of the ligand ephrinB2 is required for vascular morphogenesis but not cranial neural crest migration. | Q31859070 | ||
| RASA1 functions in EPHB4 signaling pathway to suppress endothelial mTORC1 activity | Q33872553 | ||
| Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene | Q34255091 | ||
| 5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C | Q57136624 | ||
| Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations | Q57137052 | ||
| Locus for susceptibility for familial capillary malformation (‘port-wine stain’) maps to 5q | Q57137366 | ||
| Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly | Q57445021 | ||
| Molecular cloning of two types of GAP complementary DNA from human placenta | Q67985384 | ||
| A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34 | Q72372682 | ||
| A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3 | Q72372689 | ||
| A novel mutation in RASA1 causes capillary malformation and limb enlargement | Q80838820 | ||
| Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality | Q81033699 | ||
| Generation of transgenic mice overexpressing EfnB2 in endothelial cells | Q84514621 | ||
| Multifocal capillary malformations due to RASA1 mutation misdiagnosed as cutaneous mastocytosis | Q85487408 | ||
| A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia | Q90351786 | ||
| Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation | Q90709448 | ||
| A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). | Q34306976 | ||
| Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. | Q34381015 | ||
| Paradominant Inheritance May Explain Familial Occurrence of Cutis marmorata telangiectatica congenita | Q34433674 | ||
| Blood vascular abnormalities in Rasa1(R780Q) knockin mice: implications for the pathogenesis of capillary malformation-arteriovenous malformation | Q34646954 | ||
| EPHB4 Protein Expression in Vascular Smooth Muscle Cells Regulates Their Contractility, and EPHB4 Deletion Leads to Hypotension in Mice | Q35662409 | ||
| RASA1 maintains the lymphatic vasculature in a quiescent functional state in mice | Q35698873 | ||
| Vascular development: from precursor cells to branched arterial and venous networks | Q36133395 | ||
| Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease | Q36167703 | ||
| Neural crest defects in ephrin-B2 mutant mice are non-autonomous and originate from defects in the vasculature | Q36264747 | ||
| ACVRL1 gene variant in a patient with vein of Galen aneurysmal malformation | Q37252225 | ||
| Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex | Q38293230 | ||
| Characterization of a ligand for receptor protein-tyrosine kinase HTK expressed in immature hematopoietic cells. | Q38354085 | ||
| Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation | Q38587722 | ||
| Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. | Q38688844 | ||
| Mechanisms of ephrin-Eph signalling in development, physiology and disease. | Q38704281 | ||
| RASA1 regulates the function of lymphatic vessel valves in mice | Q38771581 | ||
| Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia | Q38894602 | ||
| Pial arteriovenous fistulae in pediatric patients: associated syndromes and treatment outcome | Q40014403 | ||
| A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations. | Q40324949 | ||
| Regulation of vasculogenesis and angiogenesis by EphB/ephrin-B2 signaling between endothelial cells and surrounding mesenchymal cells. | Q40714435 | ||
| Membrane-bound LERK2 ligand can signal through three different Eph-related receptor tyrosine kinases | Q40788669 | ||
| RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation | Q41077079 | ||
| Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles | Q41259219 | ||
| Murine, but not human, ephrin-B2 can be efficiently cleaved by the serine protease kallikrein-4: implications for xenograft models of human prostate cancer. | Q41337528 | ||
| Ephrin-B2 controls cell motility and adhesion during blood-vessel-wall assembly | Q42168707 | ||
| Cardiovascular ephrinB2 function is essential for embryonic angiogenesis. | Q43906916 | ||
| RASA1 analysis: Clinical and molecular findings in a series of consecutive cases | Q44160788 | ||
| Ephrin-B2 reverse signaling is required for axon pathfinding and cardiac valve formation but not early vascular development | Q44956263 | ||
| Regulation of EphA 4 kinase activity is required for a subset of axon guidance decisions suggesting a key role for receptor clustering in Eph function | Q46652050 | ||
| De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients | Q47136130 | ||
| EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report | Q48089344 | ||
| A novel association between RASA1 mutations and spinal arteriovenous anomalies | Q48379826 | ||
| Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation | Q49999774 | ||
| Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation | Q50099725 | ||
| EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder. | Q50420717 | ||
| RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation | Q50485821 | ||
| Histopathologic and Ultrasound Characteristics of Cutaneous Capillary Malformations in a Patient with Capillary Malformation–Arteriovenous Malformation Syndrome | Q50488843 | ||
| Generation of mice with a conditional allele of the p120 Ras GTPase-activating protein. | Q52583891 | ||
| Ephs and ephrins | Q52793729 | ||
| Fetal MRI demonstrating vein of Galen malformations in two successive pregnancies--a previously unreported occurrence | Q53502646 | ||
| RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations. | Q54540655 | ||
| RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome. | Q55059618 | ||
| P433 | issue | 4 | |
| P304 | page(s) | 265-286 | |
| P577 | publication date | 2019-02-25 | |
| P1433 | published in | Trends in Molecular Medicine | Q15265842 |
| P1476 | title | EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease | |
| P478 | volume | 25 |
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