ArticleAmerican journal of human genetics1997
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers.
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Who cites it
62 citing papers in PubMed, 242 citations in OpenAlex.
- Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia.Molecular genetics & genomic medicine · 2019Trial
- Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.Journal of clinical medicine · 2023Article
- Sex-biased TGFβ signalling in pulmonary arterial hypertension.Cardiovascular research · 2023Review
- Computational and Experimental Analyses for Pathogenicity Prediction ofJournal of clinical medicine · 2023Article
- Brain AVMs-Related microRNAs: Machine Learning Algorithm for Expression Profiles of Target Genes.Brain sciences · 2022Review
- An Overview of Circulating Pulmonary Arterial Hypertension Biomarkers.Frontiers in cardiovascular medicine · 2022Review
- Endothelial cilia dysfunction in pathogenesis of hereditary hemorrhagic telangiectasia.Frontiers in cell and developmental biology · 2022Article
- Founder Effects in Hereditary Hemorrhagic Telangiectasia.Journal of clinical medicine · 2021Review
- Molecular and Genetic Profiling for Precision Medicines in Pulmonary Arterial Hypertension.Cells · 2021Review
- Connective Tissue Disorders and Cardiovascular Complications: The Indomitable Role of Transforming Growth Factor-β Signaling.Advances in experimental medicine and biology · 2021Article
- Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations.Journal of the American Heart Association · 2020Observational
- Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort.Clinical and experimental otorhinolaryngology · 2019Article
- Bioengineering an Artificial Human Blood⁻Brain Barrier in Rodents.Bioengineering (Basel, Switzerland) · 2019Article
- Bone Morphogenetic Protein 9 Is a Mechanistic Biomarker of Portopulmonary Hypertension.American journal of respiratory and critical care medicine · 2019Article
- Building and Regenerating the Lung Cell by Cell.Physiological reviews · 2019Review
- Intermittent low-dose bevacizumab in hereditary hemorrhagic telangiectasia : A case report.Wiener klinische Wochenschrift · 2017Article
- Neurovascular patterning cues and implications for central and peripheral neurological disease.Surgical neurology international · 2017Review
- Complex inheritance in Pulmonary Arterial Hypertension patients with several mutations.Scientific reports · 2016Article
- Targeting BMP signalling in cardiovascular disease and anaemia.Nature reviews. Cardiology · 2016Review
- Genetic and epigenetic mechanisms in the development of arteriovenous malformations in the brain.Clinical epigenetics · 2016Review
2 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 2 countries.
Funding
Abstract
The activin receptor-like kinase 1 gene (ALK-1) is the second locus for the autosomal dominant vascular disease hereditary hemorrhagic telangiectasia (HHT). In this paper we present the genomic structure of the ALK-1 gene, a type I serine-threonine kinase receptor expressed predominantly in endothelial cells. The coding region is contained within nine exons, spanning < 15 kb of genomic DNA. All introns follow the GT-AG rule, except for intron 6, which has a TAG/gcaag 5' splice junction. The positions of introns in the intracellular domain are almost identical to those of the mouse serine-threonine kinase receptor TSK-7L. By sequencing ALK-1 from genomic DNA, mutations were found in six of six families with HHT either shown to link to chromosome 12q13 or in which linkage of HHT to chromosome 9q33 had been excluded. Mutations were also found in three of six patients from families in which available linkage data were insufficient to allow certainty with regard to the locus involved. The high rate of detection of mutations by genomic sequencing of ALK-1 suggests that this will be a useful diagnostic test for HHT2, particularly where preliminary linkage to chromosome 12q13 can be established. In two cases in which premature termination codons were found in genomic DNA, the mutant mRNA was either not present or present at barely detectable levels. These data suggest that mutations in ALK-1 are functionally null alleles.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.