| Impact of heterozygous ALK1 mutations on the transcriptomic response to BMP9 and BMP10 in endothelial cells from hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension donors. | Impact of heterozygous ALK1 mutations on the transcriptomic response to BMP9 and BMP10 in endothelial cells from hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension donors.
Al Tabosh T, Liu H, Koça D, Al Tarrass M, Tu L, Giraud S, Delagrange L, Beaudoin M, Rivière S, Grobost V, Rondeau-Lutz M, Dupuis O, Ricard N, Tillet E, Machillot P, Salomon A, Picart C, Battail C, Dupuis-Girod S, Guignabert C, Desroches-Castan A, Bailly S., Free PMC Article | 05/6/2024 |
| Endothelial cell SMAD6 balances Alk1 function to regulate adherens junctions and hepatic vascular development. | Endothelial cell SMAD6 balances Alk1 function to regulate adherens junctions and hepatic vascular development.
Kulikauskas MR, Oatley M, Yu T, Liu Z, Matsumura L, Kidder E, Ruter D, Bautch VL., Free PMC Article | 11/13/2023 |
| ACVRL1 drives resistance to multitarget tyrosine kinase inhibitors in colorectal cancer by promoting USP15-mediated GPX2 stabilization. | ACVRL1 drives resistance to multitarget tyrosine kinase inhibitors in colorectal cancer by promoting USP15-mediated GPX2 stabilization.
Lu X, Liu R, Liao Y, Cui L, Sun H, Zhang D, Wang B, Fang L, Guan X, Yao Y, Liu C, Zhang Y., Free PMC Article | 10/25/2023 |
| Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago. | Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago.
Sbalchiero A, Abu Hweij Y, Mazza T, Buscarini E, Scotti C, Pagella F, Manfredi G, Matti E, Spinozzi G, Olivieri C., Free PMC Article | 08/13/2022 |
| Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence. | Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence.
Latif MA, Sobreira NLD, Guthrie KS, Motaghi M, Robinson GM, Shafaat O, Gong AJ, Weiss CR. | 01/8/2022 |
| Clonal hematopoiesis with JAK2V617F promotes pulmonary hypertension with ALK1 upregulation in lung neutrophils. | Clonal hematopoiesis with JAK2V617F promotes pulmonary hypertension with ALK1 upregulation in lung neutrophils.
Kimishima Y, Misaka T, Yokokawa T, Wada K, Ueda K, Sugimoto K, Minakawa K, Nakazato K, Ishida T, Oshima M, Koide S, Shide K, Shimoda K, Iwama A, Ikeda K, Takeishi Y., Free PMC Article | 12/4/2021 |
| Decreased Colonic Activin Receptor-Like Kinase 1 Disrupts Epithelial Barrier Integrity in Patients With Crohn's Disease. | Decreased Colonic Activin Receptor-Like Kinase 1 Disrupts Epithelial Barrier Integrity in Patients With Crohn's Disease.
Toyonaga T, Steinbach EC, Keith BP, Barrow JB, Schaner MR, Wolber EA, Beasley C, Huling J, Wang Y, Allbritton NL, Chaumont N, Sadiq TS, Koruda MJ, Jain A, Long MD, Barnes EL, Herfarth HH, Isaacs KL, Hansen JJ, Shanahan MT, Rahbar R, Furey TS, Sethupathy P, Sheikh SZ., Free PMC Article | 11/27/2021 |
| ALK1 regulates the internalization of endoglin and the type III TGF-beta receptor. | ALK1 regulates the internalization of endoglin and the type III TGF-β receptor.
Tazat K, Pomeraniec-Abudy L, Hector-Greene M, Szilágyi SS, Sharma S, Cai EM, Corona AL, Ehrlich M, Blobe GC, Henis YI., Free PMC Article | 09/18/2021 |
| OTULIN allies with LUBAC to govern angiogenesis by editing ALK1 linear polyubiquitin. | OTULIN allies with LUBAC to govern angiogenesis by editing ALK1 linear polyubiquitin.
Fu Y, Wang H, Dai H, Zhu Q, Cui CP, Sun X, Li Y, Deng Z, Zhou X, Ge Y, Peng Z, Yuan C, Wu B, Yang X, Li R, Liu CH, He F, Wei W, Zhang L. | 08/28/2021 |
| The clinical and genetic features of hereditary haemorrhagic telangiectasia (HHT) in central South Africa-three novel pathogenic variants. | The clinical and genetic features of hereditary haemorrhagic telangiectasia (HHT) in central South Africa-three novel pathogenic variants.
Mutize TT, Seedat RY, Ploos van Amstel JK, Mager JJ, Brown SC, Gebremariam F, Coetzee MJ. | 07/17/2021 |
| The Stratified Population Screening of Hereditary Hemorrhagic Telangiectasia. | The Stratified Population Screening of Hereditary Hemorrhagic Telangiectasia.
Major T, Gindele R, Szabó Z, Kis Z, Bora L, Jóni N, Bárdossy P, Rácz T, Bereczky Z. | 07/17/2021 |
| Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia. | Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.
Giraud S, Bardel C, Dupuis-Girod S, Carette MF, Gilbert-Dussardier B, Riviere S, Saurin JC, Eyries M, Patri S, Decullier E, Calender A, Lesca G., Free PMC Article | 05/22/2021 |
| Curacao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2). | Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2).
McDonald J, Bayrak-Toydemir P, DeMille D, Wooderchak-Donahue W, Whitehead K. | 05/8/2021 |
| Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations. | Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations.
Kim AS, Henderson KJ, Pawar S, Kim MJ, Punjani S, Pollak JS, Fahey JT, Garcia-Tsao G, Sugeng L, Young LH., Free PMC Article | 03/20/2021 |
| Association of Alk1 and Endoglin Polymorphisms with Cardiovascular Damage. | Association of Alk1 and Endoglin Polymorphisms with Cardiovascular Damage.
Garzon-Martinez M, Perretta-Tejedor N, Garcia-Ortiz L, Gomez-Marcos MA, Gonzalez-Sarmiento R, Lopez-Hernandez FJ, Martinez-Salgado C., Free PMC Article | 02/13/2021 |
| ALK-1 to ALK-5 ratio dictated by the Akt1-beta-catenin pathway regulates TGFbeta-induced endothelial-to-mesenchymal transition. | ALK-1 to ALK-5 ratio dictated by the Akt1-β-catenin pathway regulates TGFβ-induced endothelial-to-mesenchymal transition.
Verma A, Artham S, Somanath PR., Free PMC Article | 01/23/2021 |
| An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis. | An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis.
De Luca C, Bevilacqua E, Badr DA, Cannie MM, Sanchez TC, Segers V, Keymolen K, Jani JC. | 01/16/2021 |
| ActivinA was found to be a leukemia-promoting factor. Importantly, the ability of ActivinA to enhance BM engraftment and the metastatic potential of leukemic cells was confirmed in a xenograft mouse model of the disease. | ActivinA: a new leukemia-promoting factor conferring migratory advantage to B-cell precursor-acute lymphoblastic leukemic cells.
Portale F, Cricrì G, Bresolin S, Lupi M, Gaspari S, Silvestri D, Russo B, Marino N, Ubezio P, Pagni F, Vergani P, Kronnie GT, Valsecchi MG, Locatelli F, Rizzari C, Biondi A, Dander E, D'Amico G., Free PMC Article | 05/16/2020 |
| Bi-allelic loss of ENG or ACVRL1 may be a required event in the development of telangiectasia. | Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1.
Snellings DA, Gallione CJ, Clark DS, Vozoris NT, Faughnan ME, Marchuk DA., Free PMC Article | 04/4/2020 |
| Activin receptor-like kinase 1 is associated with immune cell infiltration and regulates CLEC14A transcription in cancer. | Activin receptor-like kinase 1 is associated with immune cell infiltration and regulates CLEC14A transcription in cancer.
Bocci M, Sjölund J, Kurzejamska E, Lindgren D, Marzouka NA, Bartoschek M, Höglund M, Pietras K., Free PMC Article | 03/28/2020 |
| This study revealed a de novo 1.58 Mb deletion on chromosome 12q13.12q13.13 encompassing the ACVRL1 and SCN8A genes. To our knowledge, this deletion has not been previously reported and defines a new contiguous gene syndrome. | 12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndrome.
Poisson A, Lesca G, Chatron N, Favre E, Cottin V, Gamondes D, Sanlaville D, Edery P, Giraud S, Demily C, Dupuis-Girod S. | 02/8/2020 |
| Despite the difficulty of interpreting deep intronic variants, our study highlights the importance of non-coding regions in the disease mechanism of HHT, particularly the CT-rich hotspot region of ACVRL1intron 9. The addition of this region to HHT molecular diagnostic testing algorithms will improve clinical sensitivity. | Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia.
Wooderchak-Donahue WL, McDonald J, Farrell A, Akay G, Velinder M, Johnson P, VanSant-Webb C, Margraf R, Briggs E, Whitehead KJ, Thomson J, Lin AE, Pyeritz RE, Marth G, Bayrak-Toydemir P. | 11/16/2019 |
| Recurrent epistaxis is the main manifestation of hereditary hemorrhagic telangiectasia in this family. The mutation of ACVRL1 gene is the pathogenic gene of this family. | [Gene diagnosis and treatment of hereditary hemorrhagic telangiectasia with epistaxis as its main symptom].
Leng H, Zhang Q, Shi L. | 09/14/2019 |
| The SNPs of the rs6435156 and rs1048829 locus in the BMPR2 gene, the rs121909287 loci in the ACVRL1 gene, and the rs397514716 locus in the SMAD9 gene were associated with a risk of essential hypertension (EH) in Han Chinese. | Association of the gene polymorphisms of BMPR2, ACVRL1, SMAD9 and their interactions with the risk of essential hypertension in the Chinese Han population.
Chen Y, Ye C, Chen J, Lin D, Wang H, Wang S., Free PMC Article | 07/27/2019 |
| Loss of ALK1 function in endothelial cells results in increased activity of the PI3K pathway and vascular hyperplasia. | ALK1 Loss Results in Vascular Hyperplasia in Mice and Humans Through PI3K Activation.
Alsina-Sanchís E, García-Ibáñez Y, Figueiredo AM, Riera-Domingo C, Figueras A, Matias-Guiu X, Casanovas O, Botella LM, Pujana MA, Riera-Mestre A, Graupera M, Viñals F. | 07/13/2019 |