|
Hereditary hemorrhagic telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in the endoglin gene (ENG) cause hereditary hemorrhagic telangiectasia type 1, a vascular disease that presents with nasal and gastrointestinal bleeding, skin and mucosa telangiectases, and arteriovenous malformations in internal organs.
|
31540324 |
2019 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia.
|
30763665 |
2019 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1.
|
31630786 |
2019 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia.
|
30763665 |
2019 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia.
|
30728427 |
2019 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia.
|
29048420 |
2018 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The endothelial receptor endoglin is involved in inflammation through integrin-mediated leukocyte adhesion and transmigration; and heterozygous mutations in the endoglin gene cause hereditary hemorrhagic telangiectasia type 1.
|
29080903 |
2018 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Soluble endoglin regulates expression of angiogenesis-related proteins and induction of arteriovenous malformations in a mouse model of hereditary hemorrhagic telangiectasia.
|
30108051 |
2018 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia.
|
29243366 |
2018 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Background Hereditary hemorrhagic telangiectasia ( HHT ) is a rare genetic vascular disorder caused by mutations in endoglin ( ENG ), activin receptor-like kinase 1 ( ACVRL 1; ALK 1), or SMAD 4.
|
30571376 |
2018 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gene mutations have been identified in 2 Mendelian syndromes of which VOGM is an infrequent but associated phenotype: capillary malformation-arteriovenous malformation syndrome ( RASA1) and hereditary hemorrhagic telangiectasia ( ENG and ACVRL1).
|
29350590 |
2018 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
In heritable PAH, bone morphogenetic protein receptor type II mutations may be absent; while mutations of other genes, such as type I receptor activin receptor-like kinase 1 and the type III receptor endoglin (both associated with hereditary hemorrhagic telangiectasia), caveolin-1 and KCNK3, the gene encoding potassium channel subfamily K, member 3, can be detected, instead.
|
28967497 |
2018 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Endothelial cell biology of Endoglin in hereditary hemorrhagic telangiectasia.
|
29438260 |
2018 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ENG c.-58G > A may therefore be a pathogenic HHT mutation leading to haploinsufficiency of Endoglin and HHT symptoms.
|
28231770 |
2017 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia.
|
28796572 |
2017 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Loss-of-function (LOF) mutations in the endothelial cell (EC)-enriched gene endoglin (ENG) cause the human disease hereditary haemorrhagic telangiectasia-1, characterized by vascular malformations promoted by vascular endothelial growth factor A (VEGFA).
|
28530660 |
2017 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.
|
25970827 |
2016 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.
|
25970827 |
2016 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
These results suggest a critical role for endoglin in integrin-mediated adhesion of mural cells and provide a better understanding on the mechanisms of vessel maturation in normal physiology as well as in pathologies such as preeclampsia or hereditary hemorrhagic telangiectasia.
|
26646071 |
2016 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic counselling in a national referral centre for pulmonary hypertension.
|
26699722 |
2016 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel endoglin mutation in hereditary hemorrhagic telangiectasia type 1: a case report.
|
25760803 |
2015 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.
|
25312062 |
2015 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.
|
25312062 |
2015 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes.
|
23722869 |
2014 |
|
Hereditary hemorrhagic telangiectasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Since the landmark discovery that bone morphogenetic protein receptor type II (BMPR2) mutations cause the majority of cases of familial PAH, investigators have discovered mutations in genes that cause PAH in families without BMPR2 mutations, including the type I receptor ACVRL1 and the type III receptor ENG (both associated with hereditary hemorrhagic telangiectasia), caveolin-1 (CAV1), and a gene (KCNK3) encoding a two-pore potassium channel.
|
25159282 |
2014 |