ACVRL1

Summary

Gene Symbol: ACVRL1
Description: activin A receptor like type 1
Alias: ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I, serine/threonine-protein kinase receptor R3, TGF-B superfamily receptor type I, activin A receptor type II-like 1, activin A receptor type IL, activin A receptor, type II-like kinase 1
Species: human
Products:     ACVRL1

Top Publications

  1. Klaus D, Gallione C, Anthony K, Yeh E, Yu J, Lux A, et al. Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online. Hum Mutat. 1998;12:137 pubmed
    Hereditary hemmorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dyplasia and recurrent hemorrhage...
  2. Lux A, Attisano L, Marchuk D. Assignment of transforming growth factor beta1 and beta3 and a third new ligand to the type I receptor ALK-1. J Biol Chem. 1999;274:9984-92 pubmed
    Germ line mutations in one of two distinct genes, endoglin or ALK-1, cause hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant disorder of localized angiodysplasia...
  3. Lesca G, Burnichon N, Raux G, Tosi M, Pinson S, Marion M, et al. Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. Hum Mutat. 2006;27:598 pubmed
    ..disease characterized by arteriovenous malformations and resulting from mutations in two major genes: ENG and ACVRL1. The aim of the present study was to estimate the prevalence of the mutations of ENG and ACVRL1 in HHT, based on ..
  4. Sadick H, Riedel F, Naim R, Goessler U, Hormann K, Hafner M, et al. Patients with hereditary hemorrhagic telangiectasia have increased plasma levels of vascular endothelial growth factor and transforming growth factor-beta1 as well as high ALK1 tissue expression. Haematologica. 2005;90:818-28 pubmed
    ..Increased VEGF, TGF-beta1 and ALK1 immunostaining was seen in all 13 investigated patients...
  5. Garrido Martin E, Blanco F, Fernandez L A, Langa C, VARY C, Lee U, et al. Characterization of the human Activin-A receptor type II-like kinase 1 (ACVRL1) promoter and its regulation by Sp1. BMC Mol Biol. 2010;11:51 pubmed publisher
    ..Mutations in the ALK1 gene (ACVRL1) give rise to Hereditary Haemorrhagic Telangiectasia, a dominant autosomal vascular dysplasia caused by a ..
  6. Fujiwara M, Yagi H, Matsuoka R, Akimoto K, Furutani M, Imamura S, et al. Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension. Circ J. 2008;72:127-33 pubmed
    ..the bone morphogenetic protein receptor II gene (BMPR2), and 1 mutation of the activin receptor-like kinase 1 gene (ALK1) have been reported in patients with pulmonary arterial hypertension (PAH)...
  7. Schulte C, Geisthoff U, Lux A, Kupka S, Zenner H, Blin N, et al. High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients. Hum Mutat. 2005;25:595 pubmed
    ..Presently, two genes involved in the development of HHT have been identified: ACVRL1 and ENG...
  8. Abdalla S, Cymerman U, Rushlow D, Chen N, Stoeber G, Lemire E, et al. Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia. Hum Mutat. 2005;25:320-1 pubmed
    ..dominant vascular disorder caused by mutations in Endoglin (ENG) or activin receptor-like kinase-1 (ALK1, ACVRL1) genes...
  9. Goumans M, Valdimarsdottir G, Itoh S, Lebrin F, Larsson J, Mummery C, et al. Activin receptor-like kinase (ALK)1 is an antagonistic mediator of lateral TGFbeta/ALK5 signaling. Mol Cell. 2003;12:817-28 pubmed
    ..Activin receptor-like kinase-1 (ALK1) induces Smad1/5 phosphorylation, leading to an increase in endothelial cell proliferation and migration, while ..

More Information

Publications79

  1. Letteboer T, Zewald R, Kamping E, de Haas G, Mager J, Snijder R, et al. Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. Hum Genet. 2005;116:8-16 pubmed
    ..in the genes encoding endoglin (ENG, chromosome 9q34) and activin A receptor type-like kinase 1 (ALK-1, also named ACVRL1, chromosome 12q13) are associated with HHT1 and HHT2, respectively...
  2. Upton P, Davies R, Trembath R, Morrell N. Bone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cells. J Biol Chem. 2009;284:15794-804 pubmed publisher
    ..Mutations in endoglin and activin-like kinase receptor 1 (ALK1) cause hereditary hemorrhagic telangiectasia, whereas bone morphogenetic protein type II receptor (BMPR-II) ..
  3. Finnson K, Parker W, Ten Dijke P, Thorikay M, Philip A. ALK1 opposes ALK5/Smad3 signaling and expression of extracellular matrix components in human chondrocytes. J Bone Miner Res. 2008;23:896-906 pubmed publisher
    ..However, recent studies on endothelial cells have identified ALK1 as a second type I TGF-beta receptor and have shown that ALK1 and ALK5 have opposing functions in these cells...
  4. Kuehl H, Caselitz M, Hasenkamp S, Wagner S, El Harith E, Manns M, et al. Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations. Hum Mutat. 2005;25:320 pubmed
    ..The molecular basis for liver involvement is unknown. We screened the two known HHT disease loci, the ALK1 (ACVRL1) and ENG genes, for mutations in a clinically well-characterized group of HHT patients with or without liver ..
  5. Attisano L, Carcamo J, Ventura F, Weis F, Massague J, Wrana J. Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors. Cell. 1993;75:671-80 pubmed
    ..The results indicate that type I receptors are transmembrane protein kinases that associate with type II receptors to generate diverse heteromeric serine/threonine kinase complexes of different signaling capacities. ..
  6. Blanco F, Santibanez J, Guerrero Esteo M, Langa C, Vary C, Bernabeu C. Interaction and functional interplay between endoglin and ALK-1, two components of the endothelial transforming growth factor-beta receptor complex. J Cell Physiol. 2005;204:574-84 pubmed
    ..In addition, endoglin potentiates TGF-beta/ALK1 signaling, with the extracellular domain of endoglin contributing to this functional cooperation between endoglin ..
  7. Scharpfenecker M, Van Dinther M, Liu Z, van Bezooijen R, Zhao Q, Pukac L, et al. BMP-9 signals via ALK1 and inhibits bFGF-induced endothelial cell proliferation and VEGF-stimulated angiogenesis. J Cell Sci. 2007;120:964-72 pubmed
    ..have shown that the transforming growth factor-beta (TGF-beta) type-I receptor activin receptor-like kinase 1 (ALK1) and its co-receptor endoglin play an important role in vascular development and angiogenesis...
  8. Santibanez J, Blanco F, Garrido Martin E, Sanz Rodriguez F, Del Pozo M, Bernabeu C. Caveolin-1 interacts and cooperates with the transforming growth factor-beta type I receptor ALK1 in endothelial caveolae. Cardiovasc Res. 2008;77:791-9 pubmed
    ..The aim of this work was to assess the location of ALK1 in endothelial caveolae as well as to study the role of caveolin-1 on the TGF-beta/ALK1 signalling pathway...
  9. Olivieri C, Pagella F, Semino L, Lanzarini L, Valacca C, Pilotto A, et al. Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. J Hum Genet. 2007;52:820-9 pubmed
    ..About 70-80% of HHT patients carries mutations in ENG or ACVRL1 genes, which code for a TGFbeta receptor type III and I respectively...
  10. Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, et al. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat. 2004;23:289-99 pubmed
    ..The disease is caused by mutations of two genes: ENG and ALK1 (ACVRL1). We screened the coding sequence of ENG and ALK1 in 160 unrelated French index cases...
  11. Girerd B, Montani D, Coulet F, Sztrymf B, Yaici A, Jais X, et al. Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. Am J Respir Crit Care Med. 2010;181:851-61 pubmed publisher
    Activin A receptor type II-like kinase-1 (ACVRL1, also known as ALK1) mutation is a cause of hereditary hemorrhagic telangiectasia (HHT) and/or heritable pulmonary arterial hypertension (PAH)...
  12. Wehner L, Folz B, Argyriou L, Twelkemeyer S, Teske U, Geisthoff U, et al. Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations. Clin Genet. 2006;69:239-45 pubmed
    ..Mutations in endoglin (ENG) and activin A receptor type II-like kinase 1 (ACVRL1 or ALK1) have been found in patients with HHT...
  13. Abdalla S, Pece Barbara N, Vera S, Tapia E, Paez E, Bernabeu C, et al. Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. Hum Mol Genet. 2000;9:1227-37 pubmed
    ..growth factor (TGF)-beta superfamily, is the gene mutated in hereditary hemorrhagic telangiectasia type 2 (HHT2) while endoglin is mutated in HHT1...
  14. Selva O Callaghan A, Balada E, Serrano Acedo S, Simeon Aznar C, Ordi Ros J. Mutations of activin-receptor-like kinase 1 (ALK-1) are not found in patients with pulmonary hypertension and underlying connective tissue disease. Clin Rheumatol. 2007;26:947-9 pubmed
    ..The presence of mutations in the ALK-1 gene in ten patients with underlying connective tissue diseases was investigated. ..
  15. Johnson D, Berg J, Gallione C, McAllister K, Warner J, Helmbold E, et al. A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. Genome Res. 1995;5:21-8 pubmed
    Hereditary hemorrhagic telangiectasia (HHT) or Osler-Rendu-Weber (ORW) disease is an autosomal dominant vascular dysplasia...
  16. Fontalba A, Fernandez L A, García Alegría E, Albiñana V, Garrido Martin E, Blanco F, et al. Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia. BMC Med Genet. 2008;9:75 pubmed publisher
    ..vascular disorder characterised mainly by mutations in the Endoglin (ENG) or activin receptor-like kinase-1 (ALK1, ACVRL1) genes...
  17. David L, Mallet C, Keramidas M, Lamandé N, Gasc J, Dupuis Girod S, et al. Bone morphogenetic protein-9 is a circulating vascular quiescence factor. Circ Res. 2008;102:914-22 pubmed publisher
    ..b>ALK1 (activin receptor like-kinase 1) is an endothelial-specific type 1 receptor of the transforming growth factor-beta ..
  18. Bossler A, Richards J, George C, Godmilow L, Ganguly A. Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype. Hum Mutat. 2006;27:667-75 pubmed
    ..Mutations in two genes, Endoglin (ENG) and activin receptor-like kinase 1 (ACVRL1 or ALK1) have been associated with HHT...
  19. Ricard N, Bidart M, Mallet C, Lesca G, Giraud S, Prudent R, et al. Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations. Blood. 2010;116:1604-12 pubmed publisher
    ..encoding receptors of the transforming growth factor-beta (TGF-beta) family: ENG, encoding endoglin (HHT1), and ACVRL1, encoding activin receptor-like kinase-1 (ALK1; HHT2)...
  20. Lesca G, Olivieri C, Burnichon N, Pagella F, Carette M, Gilbert Dussardier B, et al. Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network. Genet Med. 2007;9:14-22 pubmed
    ..the relationship between the phenotype and genotype in patients with a proven mutation in either ENG (HHT1) or ACVRL1 (HHT2). Clinical features and their age of onset were compared between HHT1 and HHT2...
  21. Berg J, Gallione C, Stenzel T, Johnson D, Allen W, Schwartz C, et al. The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. Am J Hum Genet. 1997;61:60-7 pubmed
    ..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...
  22. ten Dijke P, Ichijo H, Franzen P, Schulz P, Saras J, Toyoshima H, et al. Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. Oncogene. 1993;8:2879-87 pubmed
    ..These results suggest that each ALK may have different in vivo functions. ..
  23. David L, Mallet C, Mazerbourg S, Feige J, Bailly S. Identification of BMP9 and BMP10 as functional activators of the orphan activin receptor-like kinase 1 (ALK1) in endothelial cells. Blood. 2007;109:1953-61 pubmed
    b>ALK1 is an endothelial-specific type I receptor of the TGFbeta receptor family whose heterozygous mutations cause hereditary hemorrhagic telangiectasia type 2...
  24. Lee S, Kim J, Jang S, Kim D, Do Y, Suh G, et al. Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia. J Korean Med Sci. 2009;24:69-76 pubmed publisher
    ..Although mutations in the endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes have been known to cause HHT for more than 10 yr, little is known about the clinical features or genetic ..
  25. Cunha S, Pardali E, Thorikay M, Anderberg C, Hawinkels L, Goumans M, et al. Genetic and pharmacological targeting of activin receptor-like kinase 1 impairs tumor growth and angiogenesis. J Exp Med. 2010;207:85-100 pubmed publisher
    ..Diminution of ALK1 gene dosage or systemic treatment with the ALK1-Fc fusion protein RAP-041 retarded tumor growth and progression by ..
  26. Trembath R, Thomson J, Machado R, Morgan N, Atkinson C, Winship I, et al. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. N Engl J Med. 2001;345:325-34 pubmed
    ..for linkage to genes encoding TGF-beta-receptor proteins, including endoglin and activin-receptor-like kinase 1 (ALK1), and BMPR2...
  27. Olivieri C, Mira E, Delù G, Pagella F, Zambelli A, Malvezzi L, et al. Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia. J Med Genet. 2002;39:E39 pubmed
  28. Berg J, Porteous M, Reinhardt D, Gallione C, Holloway S, Umasunthar T, et al. Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. J Med Genet. 2003;40:585-90 pubmed
    ..Of these, 49 had endoglin mutations (HHT1) and 34 had ALK1 mutations (HHT2). Subjects with HHT1 reported an earlier onset of epistaxis (p=0.01) and telangiectasis (p=0...
  29. Johnson D, Berg J, Baldwin M, Gallione C, Marondel I, Yoon S, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet. 1996;13:189-95 pubmed
    ..A 1.38-Mb YAC contig spans the entire interval. It includes the activin receptor like kinase 1 gene (ACVRLK1 or ALK1), a member of the serine-threonine kinase receptor family expressed in endothelium...
  30. Oh S, Seki T, Goss K, Imamura T, Yi Y, Donahoe P, et al. Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis. Proc Natl Acad Sci U S A. 2000;97:2626-31 pubmed
    The activin receptor-like kinase 1 (ALK1) is a type I receptor for transforming growth factor-beta (TGF-beta) family proteins...
  31. Fernandez L A, Sanz Rodriguez F, Zarrabeitia R, Perez Molino A, Morales C, Restrepo C, et al. Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1. Hum Mutat. 2006;27:295 pubmed
    ..age-dependent vascular disorder originated by mutations in Endoglin (ENG) or activin receptor-like kinase-1 (ALK1, ACVRL1) genes...
  32. Harrison R, Flanagan J, Sankelo M, Abdalla S, Rowell J, Machado R, et al. Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. J Med Genet. 2003;40:865-71 pubmed
    ..ENDOGLIN and ALK-1 cause the autosomal dominant vascular disorder hereditary haemorrhagic telangiectasia (HHT). Heterozygous mutations of the type II receptor BMPR2 underlie familial primary pulmonary hypertension...
  33. Lamouille S, Mallet C, Feige J, Bailly S. Activin receptor-like kinase 1 is implicated in the maturation phase of angiogenesis. Blood. 2002;100:4495-501 pubmed
    ..Taken together, our results suggest that ALK-1 is implicated in the maturation phase of angiogenesis. Disruption of this latter phase of angiogenesis may be an important step in the development of hereditary hemorrhagic telangiectasia. ..
  34. Sabba C, Pasculli G, Lenato G, Suppressa P, Lastella P, Memeo M, et al. Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers. J Thromb Haemost. 2007;5:1149-57 pubmed
    ..To determine the incidence of visceral localizations and evaluate phenotypic differences between ENG and ALK1 mutation carriers...
  35. Chaturvedi S, Clancy M, Schaefer N, Oluwole O, McCrae K. Depression and post-traumatic stress disorder in individuals with hereditary hemorrhagic telangiectasia: A cross-sectional survey. Thromb Res. 2017;153:14-18 pubmed publisher
    Hereditary hemorrhagic telangiectasia (HHT) is characterized by frequent severe bleeding, particularly epistaxis, and life-threatening complications including stroke, brain abscess and heart failure...
  36. Junus K, Centlow M, Wikström A, Larsson I, Hansson S, Olovsson M. Gene expression profiling of placentae from women with early- and late-onset pre-eclampsia: down-regulation of the angiogenesis-related genes ACVRL1 and EGFL7 in early-onset disease. Mol Hum Reprod. 2012;18:146-55 pubmed publisher
    ..Two angiogenesis-associated transcripts (Egfl7 and Acvrl1) showed lower expression in early-onset PE versus late-onset PE (P = 0.037 and P = 0...
  37. Li Y, Huang F, Mei W, Dai H, Guo J, Tan G, et al. Toxicarioside A, isolated from tropical Antiaris toxicaria, blocks endoglin/TGF-β signaling in a bone marrow stromal cell line. Asian Pac J Trop Med. 2012;5:91-7 pubmed publisher
    ..Significant inhibition of cell proliferation was also found in the HS-5 cells treated with toxicarioside A. ALK1-related Smad1 and ALK5-related Smad2 were decreased in HS-5 cells treated with toxicarioside A...
  38. Chick J, Reddy S, Pyeritz R, Trerotola S. A Survey of Pulmonary Arteriovenous Malformation Screening, Management, and Follow-Up in Hereditary Hemorrhagic Telangiectasia Centers of Excellence. Cardiovasc Intervent Radiol. 2017;40:1003-1009 pubmed publisher
    ..those with feeding arteries <3 mm in diameter, in those patients with hereditary hemorrhagic telangiectasia (HHT) at HHT Centers of Excellence...
  39. Kottgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, et al. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet. 2013;45:145-54 pubmed publisher
    ..INHBB, SFMBT1, TMEM171, VEGFA, BAZ1B, PRKAG2, STC1, HNF4G, A1CF, ATXN2, UBE2Q2, IGF1R, NFAT5, MAF, HLF, ACVR1B-ACVRL1 and B3GNT4). Associations for many of the loci were of similar magnitude in individuals of non-European ancestry...
  40. Shao E, Lin L, Yao Y, BOSTROM K. Expression of vascular endothelial growth factor is coordinately regulated by the activin-like kinase receptors 1 and 5 in endothelial cells. Blood. 2009;114:2197-206 pubmed publisher
    ..The objective was to examine regulation of VEGF by the activin-like kinase receptors (ALKs) ALK1 and ALK5...
  41. Williams T, Liao Y, Ye J, Kuchel R, Poljak A, Raftery M, et al. Cold adaptation of the Antarctic haloarchaea Halohasta litchfieldiae and Halorubrum lacusprofundi. Environ Microbiol. 2017;19:2210-2227 pubmed publisher
    ..Hrr. lacusprofundi also formed biofilms and synthesized high levels of Hsp20 chaperones. Hht. litchfieldiae was characterized by an active CRISPR system, and elevated levels of the core gene expression ..
  42. Sautter N, Smith T. Treatment of Hereditary Hemorrhagic Telangiectasia-Related Epistaxis. Otolaryngol Clin North Am. 2016;49:639-54 pubmed publisher
    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease with an incidence of 1:5000. Recurrent, spontaneous epistaxis is the most common presenting symptom...
  43. Kijima Y, Gevorgyan R, McWilliams J, Miller N, Noureddin N, Tobis J. Usefulness of Transcranial Doppler for Detecting Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia. Am J Cardiol. 2016;117:1180-4 pubmed publisher
    ..test for pulmonary arteriovenous malformation (PAVM) in patients with hereditary hemorrhagic telangiectasia (HHT)...
  44. Zhang H, Du L, Zhong Y, Flanders K, Roberts J. Transforming growth factor-? stimulates Smad1/5 signaling in pulmonary artery smooth muscle cells and fibroblasts of the newborn mouse through ALK1. Am J Physiol Lung Cell Mol Physiol. 2017;313:L615-L627 pubmed publisher
    ..is mediated by TGF-?-type I receptors, not BMP-type I receptors, but possibly the accessory activin-like kinase (ALK1) receptor...
  45. Luo J, Chen H, Yang L, Zhu A, Wu Y, Li J. [Mutations of ACVRL1 gene in a pedigree with hereditary hemorrhagic telangiectasia]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008;25:308-10 pubmed
    To identify the activin A receptor type II-like 1 gene (ACVRL1) mutations in a Chinese family with hereditary hemorrhagic telangiectasia (HHT2)...
  46. Revuz S, Decullier E, Ginon I, Lamblin N, Hatron P, Kaminsky P, et al. Pulmonary hypertension subtypes associated with hereditary haemorrhagic telangiectasia: Haemodynamic profiles and survival probability. PLoS ONE. 2017;12:e0184227 pubmed publisher
    Different pulmonary hypertension (PH) mechanisms are associated with hereditary haemorrhagic telangiectasia (HHT).
  47. Saeki K, Yokomizo T. Identification, signaling, and functions of LTB4 receptors. Semin Immunol. 2017;33:30-36 pubmed publisher
    ..receptor for LTB4, and we later identified 12(S)-hydroxy-5Z,8E,10E-heptadecatrienoic acid (12-HHT) as a high-affinity ligand for BLT2...
  48. Wang F, Jiang J, Zhang J, Wang Q. Predicting pituitary stalk position by in vivo visualization of the hypothalamo-hypophyseal tract in craniopharyngioma using diffusion tensor imaging tractography. Neurosurg Rev. 2018;41:841-849 pubmed publisher
    ..The hypothalamo-hypophyseal tract (HHT) connects the hypothalamus and the posterior pituitary gland and projects through the PS...
  49. Piao C, Zhu Y, Zhang C, Xi X, Liu X, Zheng S, et al. Identification of multiple ACVRL1 mutations in patients with pulmonary arterial hypertension by targeted exome capture. Clin Sci (Lond). 2016;130:1559-69 pubmed publisher
    ..As a result, we identified 16 different mutations in the BMPR2 gene and four different mutations in ACVRL1, the gene for activin receptor-like kinase-1 (ACVRL1)...
  50. Mazaleuskaya L, Salamatipour A, Sarantopoulou D, Weng L, Fitzgerald G, Blair I, et al. Analysis of HETEs in human whole blood by chiral UHPLC-ECAPCI/HRMS. J Lipid Res. 2018;59:564-575 pubmed publisher
    ..The 12(S)-HETE, 12(S)-hydroxy-(5Z,8E,10E)-heptadecatrienoic acid [12(S)-HHT], and 15(S)-HETE were the major hydroxylated nonesterified chiral lipids in serum...
  51. Favia G, Tempesta A, Limongelli L, Suppressa P, Sabbà C, Maiorano E. Diode laser treatment and clinical management of multiple oral lesions in patients with hereditary haemorrhagic telangiectasia. Br J Oral Maxillofac Surg. 2016;54:379-83 pubmed publisher
    Hereditary haemorrhagic telangiectasia (HHT) is rare, and characterised by vascular dysplasia that leads to various symptoms including visceral arteriovenous malformations and mucocutaneous telangiectatic lesions...
  52. Ruiz Llorente L, Gallardo Vara E, Rossi E, Smadja D, Botella L, Bernabeu C. Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia. Expert Opin Ther Targets. 2017;21:933-947 pubmed publisher
    ..mutations in genes coding for the TGF-β receptors endoglin (ENG) (HHT1) or the activin receptor-like kinase-1 (ACVRL1 or ALK1) (HHT2), are responsible for more than 80% of patients with HHT...
  53. Lenato G, Lastella P, Di Giacomo M, Resta N, Suppressa P, Pasculli G, et al. DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population. Hum Mutat. 2006;27:213-4 pubmed
    ..In the present study, we developed a DHPLC-based protocol for mutation detection in ALK1 and ENG genes through retrospective analysis of known sequence variants, 20 causative mutations and 11 ..
  54. Sadi Ahmed N, Kacha B, Taleb H, Kedir Talha M. Relevant Features Selection for Automatic Prediction of Preterm Deliveries from Pregnancy ElectroHysterograhic (EHG) records. J Med Syst. 2017;41:204 pubmed publisher
    ..88 weeks since recording dates. Each recording contains three bipolar channels. Using the Huang-Hilbert transform (HHT), we obtained up to twelve intrinsic mode functions (IMFs) for each signal...
  55. Iwamoto S, Koga T, Ohba M, Okuno T, Koike M, Murakami A, et al. Non-steroidal anti-inflammatory drug delays corneal wound healing by reducing production of 12-hydroxyheptadecatrienoic acid, a ligand for leukotriene B4 receptor 2. Sci Rep. 2017;7:13267 pubmed publisher
    ..Recently, the COX product 12(S)-hydroxyheptadeca-5Z,8E,10E-trienoic acid (12-HHT) was identified as an endogenous ligand for leukotriene B4 receptor 2 (BLT2), which is important in ..
  56. Sharma P, Kochar P, Sharma S, Gupta N, Li S, Hooda K, et al. A case of pulmonary arteriovenous malformation: role of interventional radiology in diagnosis and treatment. Ann Transl Med. 2017;5:345 pubmed publisher
    ..bed and about 80-90% of patients with PAVMs eventually may present with hereditary hemorrhagic telangiectasia (HHT), remaining ones are sporadic cases. On the other hand, about 15-35% of HHT patients may present with PAVMs...
  57. Gkatzis K, Thalgott J, Dos Santos Luis D, Martin S, Lamandé N, Carette M, et al. Interaction Between ALK1 Signaling and Connexin40 in the Development of Arteriovenous Malformations. Arterioscler Thromb Vasc Biol. 2016;36:707-17 pubmed publisher
    ..We next took advantage of the Acvrl1(+/-) mutant mice that develop lesions similar to those in patients with HHT2 and generated Acvrl1(+/-); Gja5(EGFP/+..
  58. Pfister M, Zalaman I, Blumenstock G, Mauz P, Baumann I. Impact of genotype and mutation type on health-related quality of life in patients with hereditary hemorrhagic telangiectasia. Acta Otolaryngol. 2009;129:862-6 pubmed publisher
    Patients with hereditary hemorrhagic telangiectasia genotype ALK-1 (HHT2-ALK-1) with nonsense mutation demonstrated tendentially higher health-related quality of life (HR-QOL) scores than patients with HHT with genotype ENG (HHT1-ENG) ..
  59. Haines P, Hant F, Lafyatis R, Trojanowska M, Bujor A. Elevated expression of cav-1 in a subset of SSc fibroblasts contributes to constitutive Alk1/Smad1 activation. J Cell Mol Med. 2012;16:2238-46 pubmed publisher
    Previous studies have shown that the transforming growth factor (TGF)?/Alk1/Smad1 signaling pathway is constitutively activated in a subset of systemic sclerosis (SSc) fibroblasts and this pathway is a critical regulator of CCN2 gene ..
  60. Li M, Shi F, Fei X, Wu S, Wu D, Pan M, et al. PEGylated long-circulating liposomes deliver homoharringtonine to suppress multiple myeloma cancer stem cells. Exp Biol Med (Maywood). 2017;242:996-1004 pubmed publisher
    ..mice that were implanted with multiple myeloma RPMI 8226 cancer stem cells and treated with the LCL-HHT-H-PEG...
  61. Hume A, John A, Akawi N, Al Awadhi A, Al Suwaidi S, Al Gazali L, et al. Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations. Mol Cell Biochem. 2013;373:247-57 pubmed publisher
    ..Indeed HHT1 and HHT2 result from mutations in the genes encoding endoglin and activin-like kinase 1 (ALK1), TGF-beta receptor components...
  62. Brakensiek K, Frye Boukhriss H, Mälzer M, Abramowicz M, Bahr M, von Beckerath N, et al. Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia. Clin Genet. 2008;74:171-7 pubmed publisher
    ..Two genes are known to play a major role in the development of HHT: activin A receptor type II-like 1 gene (ACVRL1) and ENG...
  63. Ma L, Shen F, Jun K, Bao C, Kuo R, Young W, et al. Integrin ?8 Deletion Enhances Vascular Dysplasia and Hemorrhage in the Brain of Adult Alk1 Heterozygous Mice. Transl Stroke Res. 2016;7:488-496 pubmed
    ..Patients with haploinsufficiency of transforming growth factor-? (TGF-?) receptors, activin receptor-like kinase 1 (ALK1) or endoglin (ENG) have a higher incidence of bAVM than the general population...
  64. Lesca G, Genin E, Blachier C, Olivieri C, Coulet F, Brunet G, et al. Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients. Eur J Hum Genet. 2008;16:742-9 pubmed publisher
    ..characterized by widespread arteriovenous malformations and caused by mutations in two major genes: ENG and ACVRL1. Two decades ago, a French epidemiological study pointed out that its prevalence was higher than previously ..
  65. Argyriou L, Twelkemeyer S, Panchulidze I, Wehner L, Teske U, Engel W, et al. Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia. Int J Mol Med. 2006;17:655-9 pubmed
    ..Mutations in the genes for endoglin (ENG) and for activin A receptor type II-like kinase 1 (ACVRL1) have been identified to cause HHT...
  66. Fujiwara M, Yagi H, Matsuoka R, Saji T. [Analysis of genetic mutation and modifier genes in pulmonary arterial hypertension]. Nihon Rinsho. 2008;66:2071-5 pubmed
    ..hemorrhagic telangiectasia (HHT) patients with PAH, missense mutations of the activin receptor-like kinase 1 gene (ALK1) located in the serine-threonine kinase domain...
  67. Zhang G, Vilim F, Liu D, Romanova E, Yu K, Yuan W, et al. Discovery of leucokinin-like neuropeptides that modulate a specific parameter of feeding motor programs in the molluscan model, Aplysia. J Biol Chem. 2017;292:18775-18789 pubmed publisher
    ..Notably, the ALK precursor is the first verified nonarthropod precursor for leucokinin-like peptides with a novel, marked modulatory effect on a specific parameter (protraction duration) of feeding motor programs. ..
  68. Pousada G, Baloira A, Vilariño C, Cifrián J, Valverde D. Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension. PLoS ONE. 2014;9:e100261 pubmed publisher
    ..was to analyze the Bone Morphogenetic Protein Receptor 2 (BMPR2), Activin A type II receptor like kinase 1 (ALK1/ACVRL1) and potassium voltage-gated channel, shakerrelated subfamily, member 5 (KCNA5) genes in patients with idiopathic ..
  69. Shovlin C, Condliffe R, Donaldson J, Kiely D, Wort S. British Thoracic Society Clinical Statement on Pulmonary Arteriovenous Malformations. Thorax. 2017;72:1154-1163 pubmed publisher
    ..the current Clinical Statement was the plethora of new data since previous hereditary haemorrhagic telangiectasia (HHT) guidelines generated in 2006 and a systematic Cochrane Review for PAVM embolisation in 2011...
  70. Pousada G, Baloira A, Castro Añón O, Valverde D. [Pulmonary arterial hypertension associated with human immunodeficiency virus infection: study of 4 cases]. Med Clin (Barc). 2016;146:350-3 pubmed publisher
    ..The BMPR2, ACVRL1 and ENG genes are main genes involved in the pathology...