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Items: 1 to 20 of 82

1.
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
Anna Sbalchiero, Yasmin Abu Hweij, Tommaso Mazza, Elisabetta Buscarini, Claudia Scotti, Fabio Pagella, Guido Manfredi, Elina Matti, Giuseppe Spinozzi, Carla Olivieri
Mol Genet Genomic Med. 2022 Aug; 10(8): e1972. Published online 2022 May 27. doi: 10.1002/mgg3.1972
PMCID:
PMC9356557
ArticlePDF–2.2M
2.
Founder Effects in Hereditary Hemorrhagic Telangiectasia
Tamás Major, Réka Gindele, Gábor Balogh, Péter Bárdossy, Zsuzsanna Bereczky
J Clin Med. 2021 Apr; 10(8): 1682. Published online 2021 Apr 14. doi: 10.3390/jcm10081682
PMCID:
PMC8070971
ArticlePDF–1.2M
3.
Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations
Agnes S. Kim, Katharine J. Henderson, Sumeet Pawar, Min Jung Kim, Shahnaz Punjani, Jeffrey S. Pollak, John T. Fahey, Guadalupe Garcia‐Tsao, Lissa Sugeng, Lawrence H. Young
J Am Heart Assoc. 2020 Oct 20; 9(20): e016197. Published online 2020 Oct 15. doi: 10.1161/JAHA.120.016197
PMCID:
PMC7763373
ArticlePDF–566K
4.
Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia
Sophie Giraud, Claire Bardel, Sophie Dupuis-Girod, Marie-France Carette, Brigitte Gilbert-Dussardier, Sophie Riviere, Jean-Christophe Saurin, Mélanie Eyries, Sylvie Patri, Evelyne Decullier, Alain Calender, Gaëtan Lesca
Orphanet J Rare Dis. 2020; 15: 254. Published online 2020 Sep 22. doi: 10.1186/s13023-020-01533-2
PMCID:
PMC7507685
ArticlePDF–651K
5.
A Phase I Study of the Anti-Activin Receptor-Like Kinase 1 (ALK-1) Monoclonal Antibody PF-03446962 in Patients with Advanced Solid Tumors
Laura W. Goff, Roger B. Cohen, Jordan D. Berlin, Filippo G. de Braud, Andrej Lyshchik, Cristina Noberasco, Francesco Bertolini, Marina Carpentieri, Corrado Gallo Stampino, Antonello Abbattista, Erjan Wang, Hossein Borghaei
Clin Cancer Res. Author manuscript; available in PMC 2020 Jul 1.
Published in final edited form as: Clin Cancer Res. 2016 May 1; 22(9): 2146–2154. Published online 2015 Dec 11. doi: 10.1158/1078-0432.CCR-15-1622
PMCID:
PMC7328801
ArticlePDF–853K
6.
Future treatments for hereditary hemorrhagic telangiectasia
Florian Robert, Agnès Desroches-Castan, Sabine Bailly, Sophie Dupuis-Girod, Jean-Jacques Feige
Orphanet J Rare Dis. 2020; 15: 4. Published online 2020 Jan 7. doi: 10.1186/s13023-019-1281-4
PMCID:
PMC6945546
ArticlePDF–1.3M
7.
ActivinA: a new leukemia-promoting factor conferring migratory advantage to B-cell precursor-acute lymphoblastic leukemic cells
Federica Portale, Giulia Cricrì, Silvia Bresolin, Monica Lupi, Stefania Gaspari, Daniela Silvestri, Barbara Russo, Noemi Marino, Paolo Ubezio, Fabio Pagni, Patrizia Vergani, Geertruy Te Kronnie, Maria Grazia Valsecchi, Franco Locatelli, Carmelo Rizzari, Andrea Biondi, Erica Dander, Giovanna D’Amico
Haematologica. 2019 Mar; 104(3): 533–545. Prepublished online 2018 Sep 27. doi: 10.3324/haematol.2018.188664
PMCID:
PMC6395324
ArticlePDF–2.1M
8.
Prognostic Value of ACVRL1 Expression in Metastatic Colorectal Cancer Patients Receiving First-Line Chemotherapy with Bevacizumab: Results from the TRIBE Study
Diana L. Hanna, Fotios Loupakis, Dongyun Yang, Chiara Cremolini, Marta Schirripa, Meng Li, Satoshi Matsusaka, Martin D. Berger, Yuji Miyamoto, Wu Zhang, Yan Ning, Carlotta Antoniotti, Lisa Salvatore, Miriana Moran, Gary Zeger, Stephanie H. Astrow, Alfredo Falcone, Heinz-Josef Lenz
Clin Colorectal Cancer. Author manuscript; available in PMC 2019 Sep 1.
Published in final edited form as: Clin Colorectal Cancer. 2018 Sep; 17(3): e471–e488. Published online 2018 Mar 14. doi: 10.1016/j.clcc.2018.03.006
PMCID:
PMC6110978
ArticlePDF–557K
9.
P7170, a novel inhibitor of mTORC1/mTORC2 and Activin receptor-like Kinase 1 (ALK1) inhibits the growth of non small cell lung cancer
Venkatasubbaiah A Venkatesha, Asavari Joshi, Magesh Venkataraman, Vinay Sonawane, Dimple Bhatia, Prashant Tannu, Julie Bose, Sarika Choudhari, Ankita Srivastava, Prashant Kumar Pandey, Vaibhavi J Lad, Ramachandra Sangana, Tausif Ahmed, Anagha Damre, Vijaykumar Deore, Bichismita Sahu, Sanjay Kumar, Somesh Sharma, Veena R Agarwal
Mol Cancer. 2014; 13: 259. Published online 2014 Dec 2. doi: 10.1186/1476-4598-13-259
PMCID:
PMC4289333
ArticlePDF–1.7M
10.
An Intron Mutation in the ACVRL1 May Be Associated with a Transcriptional Regulation Defect in a Chinese Family with Hereditary Hemorrhagic Telangiectasia
Qian Yu, Xiao-hui Shen, Ying Li, Rui-juan Li, Ji Li, Yun-ya Luo, Su-fang Liu, Ming-yang Deng, Min-fei Pei, Guang-sen Zhang
PLoS One. 2013; 8(2): e58031. Published online 2013 Feb 27. doi: 10.1371/journal.pone.0058031
PMCID:
PMC3584037
ArticlePDF–2.1M
11.
Structure of the Alk1 extracellular domain and characterization of its BMP binding properties
Pardeep Mahlawat, Udayar Ilangovan, Tanuka Biswas, LuZhe Sun, Andrew P. Hinck
Biochemistry. Author manuscript; available in PMC 2013 Aug 14.
Published in final edited form as: Biochemistry. 2012 Aug 14; 51(32): 6328–6341. Published online 2012 Aug 2. doi: 10.1021/bi300942x
PMCID:
PMC3448977
ArticlePDF–4.1M
12.
Targeting Activin Receptor-Like Kinase 1 (ALK1) Inhibits Angiogenesis and Tumorigenesis Through a Mechanism of Action Complementary to Anti-VEGF Therapies
Dana D. Hu-Lowe, Enhong Chen, Lianglin Zhang, Katherine D. Watson, Patrizia Mancuso, Patrick Lappin, Grant Wickman, Jeffrey H. Chen, Jianying Wang, Xin Jiang, Karin Amundson, Ronald Simon, Andreas Erbersdobler, Simon Bergqvist, Zheng Feng, Terri A. Swanson, Brett H. Simmons, John Lippincott, Gerald F. Casperson, Wendy J. Levin, Corrado Gallo Stampino, David R. Shalinsky, Katherine W. Ferrara, Walter Fiedler, Francesco Bertolini
Cancer Res. Author manuscript; available in PMC 2012 Feb 15.
Published in final edited form as: Cancer Res. 2011 Feb 15; 71(4): 1362–1373. Published online 2011 Jan 6. doi: 10.1158/0008-5472.CAN-10-1451
PMCID:
PMC3269003
ArticlePDF–2.5M
13.
Bioinformatic Analysis of Pathogenic Missense Mutations of Activin Receptor Like Kinase 1 Ectodomain
Claudia Scotti, Carla Olivieri, Laura Boeri, Cecilia Canzonieri, Federica Ornati, Elisabetta Buscarini, Fabio Pagella, Cesare Danesino
PLoS One. 2011; 6(10): e26431. Published online 2011 Oct 18. doi: 10.1371/journal.pone.0026431
PMCID:
PMC3196573
ArticlePDF–925K
14.
Characterization of the human Activin-A receptor type II-like kinase 1 (ACVRL1) promoter and its regulation by Sp1
Eva M Garrido-Martin, Francisco J Blanco, Africa Fernandez-L, Carmen Langa, Calvin P Vary, Ursula E Lee, Scott L Friedman, Luisa M Botella, Carmelo Bernabeu
BMC Mol Biol. 2010; 11: 51. Published online 2010 Jun 29. doi: 10.1186/1471-2199-11-51
PMCID:
PMC2906440
ArticlePDF–4.4M
15.
Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia
C Olivieri, E Mira, G Delu, F Pagella, A Zambelli, L Malvezzi, E Buscarini, C Danesino
J Med Genet. 2002 Jul; 39(7): e39. doi: 10.1136/jmg.39.7.e39
Correction in:
J Med Genet. 2003 Feb; 40(2): 150.
PMCID:
PMC1735165
SummaryPDF–264K
16.
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.
J N Berg, C J Gallione, T T Stenzel, D W Johnson, W P Allen, C E Schwartz, C E Jackson, M E Porteous, D A Marchuk
Am J Hum Genet. 1997 Jul; 61(1): 60–67. doi: 10.1086/513903
PMCID:
PMC1715857
SummaryPage BrowsePDF–1.4M
17.
Clonal hematopoiesis with JAK2V617F promotes pulmonary hypertension with ALK1 upregulation in lung neutrophils
Yusuke Kimishima, Tomofumi Misaka, Tetsuro Yokokawa, Kento Wada, Koki Ueda, Koichi Sugimoto, Keiji Minakawa, Kazuhiko Nakazato, Takafumi Ishida, Motohiko Oshima, Shuhei Koide, Kotaro Shide, Kazuya Shimoda, Atsushi Iwama, Kazuhiko Ikeda, Yasuchika Takeishi
Nat Commun. 2021; 12: 6177. Published online 2021 Oct 26. doi: 10.1038/s41467-021-26435-0
PMCID:
PMC8548396
ArticlePDF–10M
18.
Association of Alk1 and Endoglin Polymorphisms with Cardiovascular Damage
Mercedes Garzon-Martinez, Nuria Perretta-Tejedor, Luis Garcia-Ortiz, Manuel A. Gomez-Marcos, Rogelio Gonzalez-Sarmiento, Francisco J. Lopez-Hernandez, Carlos Martinez-Salgado
Sci Rep. 2020; 10: 9383. Published online 2020 Jun 10. doi: 10.1038/s41598-020-66238-9
PMCID:
PMC7287057
ArticlePDF–1.0M
19.
Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1
Daniel A. Snellings, Carol J. Gallione, Dewi S. Clark, Nicholas T. Vozoris, Marie E. Faughnan, Douglas A. Marchuk
Am J Hum Genet. 2019 Nov 7; 105(5): 894–906. Published online 2019 Oct 17. doi: 10.1016/j.ajhg.2019.09.010
PMCID:
PMC6848992
ArticlePDF–1.3M
20.
Activin receptor-like kinase 1 is associated with immune cell infiltration and regulates CLEC14A transcription in cancer
Matteo Bocci, Jonas Sjölund, Ewa Kurzejamska, David Lindgren, Nour-Al-Dain Marzouka, Michael Bartoschek, Mattias Höglund, Kristian Pietras
Angiogenesis. 2019; 22(1): 117–131. Published online 2018 Aug 21. doi: 10.1007/s10456-018-9642-5
PMCID:
PMC6510886
ArticlePDF–3.4M

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