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ACVRL1
| Symbol: | ACVRL1 | | Name(s): | activin A receptor type II-like 1 | | Type: | protein-coding | | Organism: | Homo sapiens | | Synonyms: | ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I | | Links: |
Pubmed,
Entrez Gene,
GeneCards,
BioGPS,
Map Viewer.
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Gene Information from Publications |
| Publication Link |
Summary of findings |
| 12920067 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16179574 |
Observational study of gene-disease association. (HuGE Navigator) |
| 16705692 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16752392 |
Observational study of genetic testing. (HuGE Navigator) |
| 16776339 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17388964 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18187665 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18159113 |
ALK1 plays as notable a role as BMPR2 in the etiology of PAH. Asymptomatic carriers with the ALK1 mutation within the serine - threonine kinase domain are at risk of developing PAH and hereditary hemorrhagic telangiectasia |
| 17620321 |
These results support a significant role for ALK1 as a negative regulator of endothelial cell migration and suggest the implication of JNK and ERK as mediators of this effect. |
| 17786384 |
Mutation analysis in ENG and ACVRL1 genes was performed in hereditary hemorrhagic telangiectasia patients. | →View more information from publications. |
Recent Publications on ACVRL1: |  |
Hereditary haemorrhagic telangiectasia: a clinical and scientific review.
The autosomal-dominant trait hereditary haemorrhagic telangiectasia (HHT)... | 3rd October, 2009
| NHLI Cardiovascular Sciences, Imperial College London, London, UK.
| Eur J Hum Genet. 2009 Jul;17(7):860-71. Epub 2009 Apr 1.
DOI Direct Link |
Expression of vascular endothelial growth factor is coordinately regulated by the activin-like kinase receptors 1 and 5 in endothelial cells.
Expression of vascular endothelial growth factor (VEGF) is tightly... | 23rd September, 2009
| Division of Cardiology, David Geffen School of Medicine, University of
| Blood. 2009 Sep 3;114(10):2197-206. Epub 2009 Jun 8.
DOI Direct Link |
Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.
Hereditary hemorrhagic telangiectasia is an autosomal dominant disease... | 22nd September, 2009
| Associated Regional and University Pathologists (ARUP) Laboratories, 500
| J Mol Diagn. 2009 Nov;11(6):569-75. Epub 2009 Sep 18.
DOI Direct Link |
Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia.
BACKGROUND: Pulmonary arterial hypertension (PAH) has been linked to... | 2nd September, 2009
| Department of Cardiology, Children's Hospital Boston, 300 Longwood Avenue,
| Arch Dis Child. 2009 Jul;94(7):506-11. Epub 2009 Apr 8.
DOI Direct Link |
Aggressive presentation of breast implant-associated ALK-1 negative anaplastic large cell lymphoma with bilateral axillary lymph node involvement.
The autosomal-dominant trait hereditary haemorrhagic telangiectasia (HHT)... | 28th August, 2009
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| Leuk Lymphoma. 2009 May;50(5):831-3.
DOI Direct Link |
→View more research publications. |
ACVRL1 results (if any) from reagent suppliers |
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ACVRL1 antibody (ab10179) | Abcam
Goat polyclonal to ACVRL1. Protein kinases are enzymes that transfer a phosphate group from a phosphate donor, generally the g phosphate of ATP, ...
http://www.abcam.com/acvrl1-antibody-ab10179.html...
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GeneTex Inc. - Your source for monoclonal, polyclonal, primary ...
ACVRL1 antibody (activin A receptor type II-like 1), GTX100035, Rabbit PAb, WB, 100 μg, USD $269.00, -. ACVRL1 antibody (activin A receptor type II-like 1) ...
http://www.genetex.com/WebPage/Product/Catalog.aspx?Type=Sea...
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ACVRL1 antibodies: Signal Transduction > Protein Phosphorylation ...
ACVRL1 antibodies. ... ACVRL1 antibody. Fast Track. Goat polyclonal ... ACVRL1 antibody [RM0015-1B03]. WB, IHC-Fr. Rat monoclonal ...
http://www.abcam.com/index.html?t=56768&pt=1&c=2130&ei=&mu=r...
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Abgent - Cell and Function Antibodies
AP7807bNEW, ACVRL1 Antibody (C-term), WB, IHC, E, H. AP7807a, ACVRL1 Antibody (N -term), WB, IHC, E, IF†, H, M. AT1037a, ACY1 monoclonal antibody (M01) ...
http://www.abgent.com/products/category/cell_function...
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TGFβ RI (T-19) Antibody sc-402
Human, ACVRL1, 94, 12q13.13, NM_001130916, NM_004612 · P37023, n/a. Human, BMPR1A, 657, 10q23.2, NM_001130916, NM_004612 · P36894 ...
http://www.scbt.com/datasheet-402-tgfbeta-ri-t-19-antibody.h...
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Citations
ACVRL1 Antibody (N-term). Yu, Ming-Jiun, et al. LC-MS/MS Analysis of Apical and Basolateral Plasma Membranes of Rat Renal Collecting Duct Cells. Mol. Cell. ...
http://www.abgent.com/docs/citation...
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ALK-1 (D-20) Antibody sc-19546
Species, Gene Name, Gene ID, Chromosome Location, Isoform (mRNA) Accession #, Protein Accession #, OMIM™ Number. Human, ACVRL1, 94, 12q13.13, NM_000020 ...
http://www.scbt.com/datasheet-19546-alk-1-d-20-antibody.html...
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Search Bioportfolio and other Life Science Sites for ACVRL1,
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