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acvrl1 (70) 70
humans (60) 60
hereditary hemorrhagic telangiectasia (53) 53
endoglin (52) 52
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mutation (44) 44
telangiectasia, hereditary hemorrhagic - genetics (44) 44
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telangiectasia, hereditary hemorrhagic - complications (9) 9
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aged, 80 and over (8) 8
amino acid sequence (8) 8
arteriovenous malformations (8) 8
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endothelial-cells (8) 8
epistaxis (8) 8
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activin (7) 7
bmpr2 (7) 7
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Journal Article
Human Mutation, ISSN 1059-7794, 12/2015, Volume 36, Issue 12, pp. 1113 - 1127
Journal Article
Genetics in Medicine, ISSN 1098-3600, 06/2018, Volume 20, Issue 6, pp. 639 - 644
Purpose: Pulmonary arteriovenous malformations (pAVMs) are major contributors to morbidity and mortality in hereditary hemorrhagic telangiectasia (HHT).... 
ACVRL1 | SEVERITY SCORE | pulmonary arteriovenous malformation | GENOTYPE | HHT | genotype-phenotype correlation | GENETICS & HEREDITY | PHENOTYPE | hereditary hemorrhagic telangiectasia | ENG | MANIFESTATIONS | FEATURES | Medical imaging | Mutation
Journal Article
Arteriosclerosis, Thrombosis, and Vascular Biology, ISSN 1079-5642, 11/2013, Volume 33, Issue 11, pp. 2577 - 2584
OBJECTIVE—To investigate the role of bone morphogenetic proteins (BMPs) on α-B-crystallin (CRYAB) expression and its physiological consequences on endothelial... 
ACVRL1 protein, human | Smad proteins | BMPR2 protein, human | RNA, small interfering | anoxia | Id1 protein, human | SURVIVAL | TRANSLOCATION | ACTIVATION | Id1 protein | BMPR2 protein | RNA | ANGIOGENESIS | ACVRL1 protein | HEAT-SHOCK-PROTEIN | PATHOGENESIS | INHIBITION | ARTERIAL-HYPERTENSION | PERIPHERAL VASCULAR DISEASE | small interfering | SMOOTH-MUSCLE-CELLS | HEMATOLOGY | human | EXPRESSION | Human Umbilical Vein Endothelial Cells | alpha-Crystallin B Chain - genetics | Activin Receptors, Type II - metabolism | Apoptosis - drug effects | Humans | alpha-Crystallin B Chain - metabolism | Bone Morphogenetic Protein 4 - metabolism | Bone Morphogenetic Proteins - metabolism | Growth Differentiation Factors - pharmacology | Up-Regulation - physiology | Bone Morphogenetic Proteins - pharmacology | Disease Models, Animal | Endothelial Cells - metabolism | RNA, Small Interfering - pharmacology | Familial Primary Pulmonary Hypertension | Hypertension, Pulmonary - metabolism | Bone Morphogenetic Protein 4 - pharmacology | Bone Morphogenetic Protein Receptors, Type II - metabolism | Up-Regulation - drug effects | Growth Differentiation Factors - metabolism | Animals | Signal Transduction - drug effects | Endothelial Cells - cytology | Bone Morphogenetic Protein 7 - metabolism | Signal Transduction - physiology | Mice | Apoptosis - physiology | Lung - blood supply | Hypertension, Pulmonary - pathology | Bone Morphogenetic Protein 7 - pharmacology | Endothelial Cells - drug effects
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2019, Volume 105, Issue 5, pp. 894 - 906
Hereditary hemorrhagic telangiectasia (HHT) is a Mendelian disease characterized by vascular malformations (VMs) including visceral arteriovenous malformations... 
ACVRL1 | bi-allelic | HHT | mosaicism | two-hit | somatic mutation | biallelic | hereditary hemorrhagic telangiectasia | ENG | ARTERIOVENOUS-MALFORMATIONS | EXPRESSION ANALYSIS | MECHANISM | ENDOGLIN | GENOTYPE | FAMILIES | GENES | GENETICS & HEREDITY | DISORDERS | SUGGESTS | Telangiectasia, Hereditary Hemorrhagic | Care and treatment | Genetic aspects | Research | Gene mutations | Usage | Nucleotide sequencing | DNA sequencing
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 09/2019, Volume 7, Issue 9, pp. e893 - n/a
Background Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia disorder characterized by epistaxis, mucocutaneous telangiectasias and... 
ACVRL1 | variants | hereditary hemorrhagic telangiectasia | ENG | epistaxis | MUTATION ANALYSIS | DIAGNOSIS | PULMONARY-HYPERTENSION | ENDOGLIN | GENOTYPE | PHENOTYPE | LOCUS | GENE | MAPS | HHT | GENETICS & HEREDITY | ACVRL1 gene | Dysplasia | Genomics | Genes | Organs | Hereditary hemorrhagic telangiectasia | Hemorrhage | Genetic screening | Gene sequencing | Studies | Amplification | Diagnosis | Deoxyribonucleic acid--DNA
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 11/2019, Volume 62, Issue 11, p. 103565
Hereditary hemorrhagic telangiectasia is usually linked to the presence of a pathogenic mutation ACVRL1 or ENG. Thus, apparently there is no benefit to perform... 
Contiguous gene syndrome | ACVRL1 | Deletion | Hereditary hemorrhagic telangiectasia | SCN8A | PROTEIN | ENDOGLIN | MUTATION | GENETICS & HEREDITY | MIRROR MOVEMENTS | EPILEPTIC ENCEPHALOPATHY
Journal Article
Journal Article